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Entry
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- *611409 - OCA2 MELANOSOMAL TRANSMEMBRANE PROTEIN; OCA2
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- OMIM
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<p>
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<span class="h4">*611409</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#history">History</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/611409">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000104044;t=ENST00000354638" class="mim-tip-hint" title="Genome databases for vertebrates and other eukaryotic species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=4948" class="mim-tip-hint" title="Detailed views of the complete genomes of selected organisms from vertebrates to protozoa." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Genome Viewer', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Genome Viewer</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=611409" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000104044;t=ENST00000354638" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000275,NM_001300984,XM_011521640,XM_017022255,XM_017022256,XM_017022257,XM_017022258,XM_017022259,XM_017022260,XM_017022261,XM_017022262,XM_017022263,XM_017022264,XM_017022265,XM_047432605,XM_047432606,XM_047432607,XM_047432608,XM_047432609,XM_047432610,XM_047432611,XM_047432612,XM_047432613,XM_047432614,XM_047432615,XM_047432616,XM_047432617,XM_047432618,XM_047432619,XR_001751294" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_000275" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=611409" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=01945&isoform_id=01945_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/OCA2" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/189780,190285,15082369,90110050,119578065,119578066,119578067,157266326,665821278,767984330,1034590819,1034590822,1034590824,1034590826,1034590828,1034590830,1034590832,1034590834,1034590836,1034590838,1034590840,2217301366,2217301368,2217301372,2217301374,2217301376,2217301378,2217301382,2217301385,2217301387,2217301390,2217301392,2217301394,2217301396,2217301398,2217301400,2462544364,2462544366,2462544368,2462544370,2462544372,2462544374,2462544376,2462544378,2462544380,2462544382,2462544384,2462544386,2462544388,2462544390,2462544392,2462544394,2462544396,2462544398,2462544400,2462544402,2462544404,2462544406,2462544408,2462544410,2462544412,2462544414,2462544416,2462544418,2462544420,2462544422" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/Q04671" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=4948" class="mim-tip-hint" title="The Gene Portal Hub; customizable portal of gene and protein function information." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'BioGPS', 'domain': 'biogps.org'})">BioGPS</a></div>
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<div><a href="https://www.ensembl.org/Homo_sapiens/Gene/Summary?db=core;g=ENSG00000104044;t=ENST00000354638" class="mim-tip-hint" title="Orthologs, paralogs, regulatory regions, and splice variants." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.genecards.org/cgi-bin/carddisp.pl?gene=OCA2" class="mim-tip-hint" title="The Human Genome Compendium; web-based cards integrating automatically mined information on human genes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneCards', 'domain': 'genecards.org'})">GeneCards</a></div>
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<div><a href="http://amigo.geneontology.org/amigo/search/annotation?q=OCA2" class="mim-tip-hint" title="Terms, defined using controlled vocabulary, representing gene product properties (biologic process, cellular component, molecular function) across species." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GeneOntology', 'domain': 'amigo.geneontology.org'})">Gene Ontology</a></div>
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<div><a href="https://www.genome.jp/dbget-bin/www_bget?hsa+4948" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<dd><a href="http://v1.marrvel.org/search/gene/OCA2" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:4948" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/4948" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr15&hgg_gene=ENST00000354638.8&hgg_start=27719008&hgg_end=28099315&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:8101" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:8101" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/oca2" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=611409[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=611409[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/OCA2/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000104044" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=OCA2" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=OCA2" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=OCA2" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="#mimLocusSpecificDBsFold" id="mimLocusSpecificDBsToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A gene-specific database of variation."><span id="mimLocusSpecificDBsToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Locus Specific DBs</div>
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<div id="mimLocusSpecificDBsFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="http://albinismdb.med.umn.edu/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Albinism Database</a></div><div style="margin-left: 0.5em;"><a href="http://www.retina-international.org/files/sci-news/pgenemut.htm" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Mutations of the P-Gene</a></div>
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</div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=OCA2&upstreamSize=0&downstreamSize=0&x=0&y=0" class="mim-tip-hint" title="National Heart, Lung, and Blood Institute Exome Variant Server." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NHLBI EVS', 'domain': 'evs.gs.washington.edu'})">NHLBI EVS</a></div>
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<div><a href="https://www.pharmgkb.org/gene/PA31890" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:8101" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0031649.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:97454" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/OCA2#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:97454" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/4948/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://omia.org/results?search_type=advanced&omia_id=002130,002709" class="mim-tip-hint" title="OMIA" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OMIA', 'domain': 'omia.angis.org.au'})">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=4948" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-070718-4" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
|
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=OCA2&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
|
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
|
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<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 11160000, 26336006<br />
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<strong>ICD10CM:</strong> E70.321<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
|
611409
|
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
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OCA2 MELANOSOMAL TRANSMEMBRANE PROTEIN; OCA2
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</span>
|
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</h3>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
|
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
|
</span>
|
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</p>
|
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</div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
OCA2 GENE<br />
|
|
PINK-EYED DILUTION; PED<br />
|
|
P GENE
|
|
</span>
|
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</h4>
|
|
</div>
|
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</div>
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<div>
|
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<br />
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</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=OCA2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">OCA2</a></em></strong>
|
|
</span>
|
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</p>
|
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</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/15/39?start=-3&limit=10&highlight=39">15q12-q13.1</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr15:27719008-28099315&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">15:27,719,008-28,099,315</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=227220,227220,203200,203200" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
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|
<tr>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>The OCA2 gene encodes a protein that corresponds to the 'pink-eyed dilution' (p) mouse mutant. The gene product plays a role in regulating the pH of melanosomes (<a href="#39" class="mim-tip-reference" title="Yuasa, I., Umetsu, K., Harihara, S., Miyoshi, A., Saitou, N., Park, K. S., Dashnyam, B., Jin, B., Lucotte, G., Chattopadhyay, P. K., Henke, L., Henke, J. <strong>OCA2*481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations.</strong> J. Hum. Genet. 52: 690-693, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17568986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17568986</a>] [<a href="https://doi.org/10.1007/s10038-007-0167-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17568986">Yuasa et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17568986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#9" class="mim-tip-reference" title="Gardner, J. M., Nakatsu, Y., Gondo, Y., Lee, S., Lyon, M. F., King, R. A., Brilliant, M. H. <strong>The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes.</strong> Science 257: 1121-1124, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1509264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1509264</a>] [<a href="https://doi.org/10.1126/science.257.5073.1121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1509264">Gardner et al. (1992)</a> isolated mouse cDNA clones from the p locus from murine melanoma and melanocyte libraries. The deduced 833-residue protein has a molecular mass of 92 kD. <a href="#9" class="mim-tip-reference" title="Gardner, J. M., Nakatsu, Y., Gondo, Y., Lee, S., Lyon, M. F., King, R. A., Brilliant, M. H. <strong>The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes.</strong> Science 257: 1121-1124, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1509264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1509264</a>] [<a href="https://doi.org/10.1126/science.257.5073.1121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1509264">Gardner et al. (1992)</a> obtained the human counterpart of the murine p cDNA by screening a human melanoma cDNA library with a fragment of mouse genomic DNA. The predicted amino acid sequence of the human gene product showed 84% identity from amino acids 283 to 414 of the predicted mouse protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1509264" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#29" class="mim-tip-reference" title="Rinchik, E. M., Bultman, S. J., Horsthemke, B., Lee, S.-T., Strunk, K. M., Spritz, R. A., Avidano, K. M., Jong, M. T. C., Nicholls, R. D. <strong>A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism.</strong> Nature 361: 72-76, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8421497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8421497</a>] [<a href="https://doi.org/10.1038/361072a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8421497">Rinchik et al. (1993)</a> demonstrated that the human cDNA DN10, linked to the p locus in mice, identifies the human homolog (P) of the mouse p gene, and appears to encode an integral membrane transporter protein. The human P protein is an 838-amino acid polypeptide that contains 12 putative transmembrane domains and exhibits structural homology to transporters of small organic molecules. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8421497" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Lee, S.-T., Nicholls, R. D., Jong, M. T. C., Fukai, K., Spritz, R. A. <strong>Organization and sequence of the human P gene and identification of a new family of transport proteins.</strong> Genomics 26: 354-363, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7601462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7601462</a>] [<a href="https://doi.org/10.1016/0888-7543(95)80220-g" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7601462">Lee et al. (1995)</a> noted that the 838-residue P protein contains 12 transmembrane domains arranged similarly to various transporters and appears to be an integral membrane protein of melanosomes. Sequence comparisons suggested to <a href="#21" class="mim-tip-reference" title="Lee, S.-T., Nicholls, R. D., Jong, M. T. C., Fukai, K., Spritz, R. A. <strong>Organization and sequence of the human P gene and identification of a new family of transport proteins.</strong> Genomics 26: 354-363, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7601462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7601462</a>] [<a href="https://doi.org/10.1016/0888-7543(95)80220-g" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7601462">Lee et al. (1995)</a> that the P protein is a member of a family of transporters that includes an E. coli Na+/H+ antiporter and that it may be a tyrosine transporter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7601462" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#21" class="mim-tip-reference" title="Lee, S.-T., Nicholls, R. D., Jong, M. T. C., Fukai, K., Spritz, R. A. <strong>Organization and sequence of the human P gene and identification of a new family of transport proteins.</strong> Genomics 26: 354-363, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7601462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7601462</a>] [<a href="https://doi.org/10.1016/0888-7543(95)80220-g" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7601462">Lee et al. (1995)</a> reported that the human OCA2 gene contains 25 exons spanning between 250 and 600 kb; exon 1 is noncoding. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7601462" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using pulsed field gel electrophoresis, <a href="#9" class="mim-tip-reference" title="Gardner, J. M., Nakatsu, Y., Gondo, Y., Lee, S., Lyon, M. F., King, R. A., Brilliant, M. H. <strong>The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes.</strong> Science 257: 1121-1124, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1509264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1509264</a>] [<a href="https://doi.org/10.1126/science.257.5073.1121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1509264">Gardner et al. (1992)</a> found that probes derived from the mouse p gene showed identical patterns of hybridization to those observed with the human D15S12 locus on human chromosome 15q, suggesting that the 2 were homologs. The D15S12 locus had been mapped to human chromosome 15q11.2-q12 (<a href="#5" class="mim-tip-reference" title="Donlon, T. A., Lalande, M., Wyman, A., Bruns, G., Latt, S. A. <strong>Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome.</strong> Proc. Nat. Acad. Sci. 83: 4408-4412, 1986. Note: Erratum: Proc. Nat. Acad. Sci. 83: 6964 only, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3012567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3012567</a>] [<a href="https://doi.org/10.1073/pnas.83.12.4408" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3012567">Donlon et al., 1986</a>; <a href="#19" class="mim-tip-reference" title="Knoll, J. H. M., Nicholls, R. D., Magenis, R. E., Glatt, K., Graham, J. M., Jr., Kaplan, L., Lalande, M. <strong>Angelman syndrome: three molecular classes identified with chromosome 15q11q13-specific DNA markers.</strong> Am. J. Hum. Genet. 47: 149-155, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1971993/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1971993</a>]" pmid="1971993">Knoll et al., 1990</a>; <a href="#30" class="mim-tip-reference" title="Robinson, W. P., Bottani, A., Yagang, X., Balakrishman, J., Binkert, F., Machler, M., Prader, A., Schinzel, A. <strong>Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients.</strong> Am. J. Hum. Genet. 49: 1219-1234, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1684085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1684085</a>]" pmid="1684085">Robinson et al., 1991</a>), the region of abnormality associated with Prader-Willi syndrome (PWS; <a href="/entry/176270">176270</a>) and Angelman syndrome (AS; <a href="/entry/105830">105830</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1509264+1971993+1684085+3012567" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using immunoblot analysis to examine murine melanocytes, <a href="#32" class="mim-tip-reference" title="Rosemblat, S., Durham-Pierre, D., Gardner, J. M., Nakatsu, Y., Brilliant, M. H., Orlow, S. J. <strong>Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene.</strong> Proc. Nat. Acad. Sci. 91: 12071-12075, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7991586/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7991586</a>] [<a href="https://doi.org/10.1073/pnas.91.25.12071" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7991586">Rosemblat et al. (1994)</a> demonstrated that the p gene encodes a 110-kD hydrophobic integral melanosomal membrane protein. The protein was absent from melanosomes cultured from 2 strains of mutant mice in which the p gene transcript was not expressed. Subcellular fractionation of cultured melanocytes showed that the protein was present in melanosomes, but absent from the vesicle-rich small granule fraction of melanocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7991586" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#21" class="mim-tip-reference" title="Lee, S.-T., Nicholls, R. D., Jong, M. T. C., Fukai, K., Spritz, R. A. <strong>Organization and sequence of the human P gene and identification of a new family of transport proteins.</strong> Genomics 26: 354-363, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7601462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7601462</a>] [<a href="https://doi.org/10.1016/0888-7543(95)80220-g" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7601462">Lee et al. (1995)</a> reported several polymorphisms in the P gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7601462" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Oculocutaneous Albinism Type II</em></strong></p><p>
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In a patient with tyrosinase-positive oculocutaneous albinism, or OCA2 (<a href="/entry/203200">203200</a>), <a href="#29" class="mim-tip-reference" title="Rinchik, E. M., Bultman, S. J., Horsthemke, B., Lee, S.-T., Strunk, K. M., Spritz, R. A., Avidano, K. M., Jong, M. T. C., Nicholls, R. D. <strong>A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism.</strong> Nature 361: 72-76, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8421497/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8421497</a>] [<a href="https://doi.org/10.1038/361072a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8421497">Rinchik et al. (1993)</a> demonstrated deletion of the poly(A) tail and part of the last exon of the OCA2 gene, inherited from his mother, and deletion of the entire locus inherited from his father. The patient also had Prader-Willi syndrome. The authors noted that the prevalence of type II OCA among patients with Prader-Willi syndrome and Angelman syndrome, perhaps 1%, is consistent with the expected frequency of carriers of type II OCA, given a frequency of the disease of approximately 1 per 36,000 in Caucasians. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8421497" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of a consanguineous kindred with OCA2, <a href="#7" class="mim-tip-reference" title="Durham-Pierre, D., Gardner, J. M., Nakatsu, Y., King, R. A., Francke, U., Ching, A., Aquaron, R., del Marmol, V., Brilliant, M. H. <strong>African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism.</strong> Nature Genet. 7: 176-179, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7920637/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7920637</a>] [<a href="https://doi.org/10.1038/ng0694-176" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7920637">Durham-Pierre et al. (1994)</a> identified a homozygous 2.7-kb deletion encompassing an exon of the P gene (<a href="#0001">611409.0001</a>). The kindred was of African, Caucasian, and American Indian descent. The same deletion allele was identified in unrelated African Americans, Haitian, and Africans with OCA2, suggesting a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7920637" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Brown oculocutaneous albinism (see <a href="/entry/203200">203200</a>) is also linked to the P locus, and the occurrence of both OCA2 and BOCA within the same family suggested that these disorders are allelic. <a href="#26" class="mim-tip-reference" title="Manga, P. <strong>Identification and molecular characterisation of the genes for brown and rufous oculocutaneous albinism in southern Africa.</strong> Ph.D. Thesis: University of the Witwatersrand, Johannesburg 1997."None>Manga (1997)</a> found that a large proportion (9/10) of BOCA subjects were compound heterozygotes with the 2.7-kb deletion of the OCA2 gene on one allele.</p><p><a href="#20" class="mim-tip-reference" title="Lee, S.-T., Nicholls, R. D., Bundey, S., Laxova, R., Musarella, M., Spritz, R. A. <strong>Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.</strong> New Eng. J. Med. 330: 529-534, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8302318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8302318</a>] [<a href="https://doi.org/10.1056/NEJM199402243300803" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8302318">Lee et al. (1994)</a> identified homozygous or compound heterozygous mutations in the OCA2 gene (see, e.g., <a href="#0003">611409.0003</a>-<a href="#0006">611409.0006</a>) in individuals with oculocutaneous albinism. <a href="#22" class="mim-tip-reference" title="Lee, S.-T., Nicholls, R. D., Schnur, R. E., Guida, L. C., Lu-Kuo, J., Spinner, N. B., Zackai, E. H., Spritz, R. A. <strong>Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2).</strong> Hum. Molec. Genet. 3: 2047-2051, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7874125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7874125</a>]" pmid="7874125">Lee et al. (1994)</a> studied 7 unrelated African American patients with OCA2 and identified different abnormalities of the P gene in all 7. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7874125+8302318" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Kawai, M., Suzuki, T., Ito, S., Inagaki, K., Suzuki, N., Tomita, Y. <strong>A patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned.</strong> Dermatology 210: 322-323, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15942220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15942220</a>] [<a href="https://doi.org/10.1159/000084758" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15942220">Kawai et al. (2005)</a> noted that over 50 different mutations in the OCA2 gene have been reported. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15942220" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#31" class="mim-tip-reference" title="Rooryck, C., Morice-Picard, F., Lasseaux, E., Cailley, D., Dollfus, H., Defoort-Dhellemme, S., Duban-Bedu, B., de Ravel, T. J. L., Taieb, A., Lacombe, D., Arveiler, B. <strong>High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients.</strong> Hum. Genet. 129: 199-208, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21085994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21085994</a>] [<a href="https://doi.org/10.1007/s00439-010-0913-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21085994">Rooryck et al. (2011)</a> identified a 184-kb deletion in the OCA2 gene (<a href="#0015">611409.0015</a>) as a founder mutation in 3 unrelated patients of Polish ancestry with OCA2. Sequence analysis indicated that the 2 breakpoints were located in repeat-rich regions containing numerous Alu and L1 repeats, suggesting nonhomologous end joining (NHEJ) as the molecular mechanism. The authors noted that they had found rearrangements of the OCA2 gene in more than 20% of their OCA2 patients and recommended high-resolution array CGH analysis for adequate molecular diagnosis in candidate patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21085994" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a mother and 3 of her children with oculocutaneous or ocular albinism, <a href="#15" class="mim-tip-reference" title="Jedlickova, J., Vajter, M., Barta, T., Black, G. C. M., Perveen, R., Mares, J., Fichtl, M., Kousal, B., Dudakova, L., Liskova, P. <strong>MIR204 n.37C-T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma.</strong> Clin. Genet. 104: 418-426, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37321975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37321975</a>] [<a href="https://doi.org/10.1111/cge.14391" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37321975">Jedlickova et al. (2023)</a> identified biallelic mutations in the OCA2 gene, involving homozygosity or compound heterozygosity for the previously reported V443I substitution (<a href="#0004">611409.0004</a>). Other members of the family had autosomal dominant retinal dystrophy with coloboma (see <a href="/entry/616722">616722</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37321975" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Normal Pigment Variation</em></strong></p><p>
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<a href="#1" class="mim-tip-reference" title="Akey, J. M., Wang, H., Xiong, M., Wu, H., Liu, W., Shriver, M. D., Jin, L. <strong>Interaction between the melanocortin-1 receptor and P genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population.</strong> Hum. Genet. 108: 516-520, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11499678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11499678</a>] [<a href="https://doi.org/10.1007/s004390100524" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11499678">Akey et al. (2001)</a> studied the contribution of the P and MC1R (<a href="/entry/155555">155555</a>) genes to interindividual variation in skin pigmentation in a Tibetan population. They genotyped 3 single-nucleotide polymorphisms (SNPs) in the MC1R gene and 2 SNPs in the P gene in 184 randomly ascertained Tibetan subjects, whose skin color was measured as a quantitative trait by reflective spectroscopy. Single-locus analyses failed to demonstrate an association between any of the 5 SNPs and skin pigmentation. However, when an epistatic model was applied to the data, a significant gene-gene interaction was identified between val92 to met (<a href="/entry/155555#0002">155555.0002</a>) in the MC1R gene and the IVS13-15T-C polymorphism in the P gene identified by <a href="#21" class="mim-tip-reference" title="Lee, S.-T., Nicholls, R. D., Jong, M. T. C., Fukai, K., Spritz, R. A. <strong>Organization and sequence of the human P gene and identification of a new family of transport proteins.</strong> Genomics 26: 354-363, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7601462/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7601462</a>] [<a href="https://doi.org/10.1016/0888-7543(95)80220-g" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7601462">Lee et al. (1995)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7601462+11499678" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>A genomewide linkage scan for eye color by <a href="#40" class="mim-tip-reference" title="Zhu, G., Evans, D. M., Duffy, D. L., Montgomery, G. W., Medland, S. E., Gillespie, N. A., Ewen, K. R., Jewell, M., Liew, Y. W., Hayward, N. K., Sturm, R. A., Trent, J. M., Martin, N. G. <strong>A genome scan for eye color in 502 twin families: most variation is due to a QTL on chromosome 15q.</strong> Twin Res. 7: 197-210, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15169604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15169604</a>] [<a href="https://doi.org/10.1375/136905204323016186" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15169604">Zhu et al. (2004)</a> suggested that 74% of variation in eye color in Europeans can be attributed to a QTL linked to the OCA2 region of 15q. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15169604" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Duffy, D. L., Montgomery, G. W., Chen, W., Zhao, Z. Z., Le, L., James, M. R., Hayward, N. K., Martin, N. G., Sturm, R. A. <strong>A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.</strong> Am. J. Hum. Genet. 80: 241-252, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17236130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17236130</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17236130[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/510885" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17236130">Duffy et al. (2007)</a> conducted additional genotyping to clarify the role of OCA2 locus in the inheritance of eye color and other pigmentary traits associated with skin-cancer risk in white populations. The highest association for blue/nonblue eye color (<a href="/entry/227220">227220</a>) was found with 3 OCA2 SNPs in intron 1, <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs7495174;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs7495174</a> (T/C), <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs4778241;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs4778241</a> (G/T), and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs4778138;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs4778138</a> (T/C). These 3 SNPs are in 1 major haplotype block (<a href="#0013">611409.0013</a>), with TGT representing 78.4% of alleles. The minor population impact of the nonsynonymous coding region polymorphisms arg305-to-trp (<a href="#0011">611409.0011</a>) and arg419-to-gln (<a href="#0012">611409.0012</a>) associated with nonblue eyes (<a href="#28" class="mim-tip-reference" title="Rebbeck, T. R., Kanetsky, P. A., Walker, A. H., Holmes, R., Halpern, A. C., Schuchter, L. M., Elder, D. E., Guerry, D. <strong>P gene as an inherited biomarker of human eye color.</strong> Cancer Epidemiol. Biomarkers Prev. 11: 782-784, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12163334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12163334</a>]" pmid="12163334">Rebbeck et al., 2002</a>; <a href="#14" class="mim-tip-reference" title="Jannot, A.-S., Meziani, R., Bertrand, G., Gerard, B., Descamps, V., Archimbaud, A., Picard, C., Ollivaud, L., Basset-Seguin, N., Kerob, D., Lanternier, G., Lebbe, C., Saiag, P., Crickx, B., Clerget-Darpoux, F., Grandchamp, B., Soufir, N., Melan-Cohort. <strong>Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.</strong> Europ. J. Hum. Genet. 13: 913-920, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15889046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15889046</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201415" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15889046">Jannot et al., 2005</a>) and the tight linkage of the major TGT haplotype within intron 1 of OCA2 with blue eye color and lighter hair and skin tones suggested that differences within the 5-prime proximal regulatory region of the OCA2 gene alter expression or mRNA transcript levels and may be responsible for these associations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15889046+12163334+17236130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Frudakis, T., Terravainen, T., Thomas, M. <strong>Multilocus OCA2 genotypes specify human iris colors.</strong> Hum. Genet. 122: 311-326, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17619204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17619204</a>] [<a href="https://doi.org/10.1007/s00439-007-0401-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17619204">Frudakis et al. (2007)</a> developed an iris color score for quantifying iris melanin content ('C') in silico and analyzed the OCA2 locus in 1,317 individuals, confirming 6 previously described associations and identifying another 27 SNPs strongly associated with 'C.' Using 4 discontinuous and nonoverlapping SNP sets across blocks of linkage disequilibrium, the authors examined 82 samples and found that those with matching diplotypes composed of nonoverlapping OCA2 SNPs exhibited a rate of 'C' concordance of 96.3%, which was significantly greater than that for randomly selected samples (62.6%; p less than 0.0001). <a href="#8" class="mim-tip-reference" title="Frudakis, T., Terravainen, T., Thomas, M. <strong>Multilocus OCA2 genotypes specify human iris colors.</strong> Hum. Genet. 122: 311-326, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17619204/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17619204</a>] [<a href="https://doi.org/10.1007/s00439-007-0401-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17619204">Frudakis et al. (2007)</a> concluded that OCA2 is the major human iris color gene and suggested that by using an empirical database-driven system, genotypes from a modest number of SNPs within this gene can be used to accurately predict iris melanin content from DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17619204" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>See HERC2 (<a href="/entry/605837">605837</a>) for information on noncoding variants in the HERC2 gene that affect OCA2 expression and are associated with eye color.</p><p>By examining 1,570 ethnically diverse African genomes from individuals with quantified pigmentation levels, <a href="#4" class="mim-tip-reference" title="Crawford, N. G., Kelly, D. E., Hansen, M. E. B., Beltrame, M. H., Fan, S., Bowman, S. L., Jewett, E., Ranciaro, A., Thompson, S., Lo, Y., Pfeifer, S. P., Jensen, J. D., and 36 others. <strong>Loci associated with skin pigmentation identified in African populations.</strong> Science 358: eaan8433, 2017. Note: Electronic Article. Erratum: Science 367: eaba7178, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29025994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29025994</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29025994[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.aan8433" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29025994">Crawford et al. (2017)</a> identified 10 SNPs in the OCA2/HERC2 region that were highly associated with pigmentation. The SNP with the highest probability of being causal in OCA2 was <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1800404;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1800404</a> (p = 1.6 x 10(-8)), a synonymous variant within exon 10. The ancestral <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1800404;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1800404</a>C allele, associated with dark pigmentation, is common in most Africans as well as southern and eastern Asians and Australo-Melanesians, whereas the derived T allele, associated with light pigmentation, is most common (greater than 70%) in Europeans and San. The <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1800404;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1800404</a>C variant, associated with dark pigmentation, is identical by descent in South Asian and Australo-Melanesian populations. <a href="#4" class="mim-tip-reference" title="Crawford, N. G., Kelly, D. E., Hansen, M. E. B., Beltrame, M. H., Fan, S., Bowman, S. L., Jewett, E., Ranciaro, A., Thompson, S., Lo, Y., Pfeifer, S. P., Jensen, J. D., and 36 others. <strong>Loci associated with skin pigmentation identified in African populations.</strong> Science 358: eaan8433, 2017. Note: Electronic Article. Erratum: Science 367: eaba7178, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29025994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29025994</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29025994[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.aan8433" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29025994">Crawford et al. (2017)</a> noted the extensive linkage disequilibrium among SNPs in the OCA2/HERC2 region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29025994" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Melanoma</em></strong></p><p>
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<a href="#14" class="mim-tip-reference" title="Jannot, A.-S., Meziani, R., Bertrand, G., Gerard, B., Descamps, V., Archimbaud, A., Picard, C., Ollivaud, L., Basset-Seguin, N., Kerob, D., Lanternier, G., Lebbe, C., Saiag, P., Crickx, B., Clerget-Darpoux, F., Grandchamp, B., Soufir, N., Melan-Cohort. <strong>Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.</strong> Europ. J. Hum. Genet. 13: 913-920, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15889046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15889046</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201415" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15889046">Jannot et al. (2005)</a> genotyped 113 patients with cutaneous malignant melanoma (see <a href="/entry/155600">155600</a>) and 105 controls for SNPs in the OCA2 gene. Analysis of allelic distribution showed an association between melanoma and OCA2 (p = 0.030); combination testing revealed that a combination formed by 2 SNPs, IVS13+112 and A776A (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1800419;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1800419</a>), was most strongly associated with melanoma (nominal p = 0.001). <a href="#14" class="mim-tip-reference" title="Jannot, A.-S., Meziani, R., Bertrand, G., Gerard, B., Descamps, V., Archimbaud, A., Picard, C., Ollivaud, L., Basset-Seguin, N., Kerob, D., Lanternier, G., Lebbe, C., Saiag, P., Crickx, B., Clerget-Darpoux, F., Grandchamp, B., Soufir, N., Melan-Cohort. <strong>Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.</strong> Europ. J. Hum. Genet. 13: 913-920, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15889046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15889046</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201415" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15889046">Jannot et al. (2005)</a> concluded that OCA2 genotype influences melanoma risk. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15889046" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The pink-eye (or pink-eyed dilution) locus in the mouse is of historic significance because the linkage of this locus with a locus for albinism by <a href="#12" class="mim-tip-reference" title="Haldane, J. B. S., Sprunt, A. D., Haldane, N. M. <strong>Reduplication in mice.</strong> J. Genet. 5: 133-135, 1915."None>Haldane et al. (1915)</a> was the first mammalian linkage to be discovered. The gene was subsequently demonstrated to be on mouse chromosome 7 and the molecular nature of the mutation identified (<a href="#24" class="mim-tip-reference" title="Lyon, M. F., King, T. R., Gondo, Y., Gardner, J. M., Nakatsu, Y., Eicher, E. M., Brilliant, M. H. <strong>Genetic and molecular analysis of recessive alleles at the pink-eyed dilution (p) locus of the mouse.</strong> Proc. Nat. Acad. Sci. 89: 6968-6972, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1495987/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1495987</a>] [<a href="https://doi.org/10.1073/pnas.89.15.6968" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1495987">Lyon et al., 1992</a>; <a href="#9" class="mim-tip-reference" title="Gardner, J. M., Nakatsu, Y., Gondo, Y., Lee, S., Lyon, M. F., King, R. A., Brilliant, M. H. <strong>The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes.</strong> Science 257: 1121-1124, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1509264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1509264</a>] [<a href="https://doi.org/10.1126/science.257.5073.1121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1509264">Gardner et al., 1992</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1509264+1495987" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The 'pink-eyed dilution' (p) mouse has reduced pigmentation of the coat and eyes inherited as an autosomal recessive trait. <a href="#9" class="mim-tip-reference" title="Gardner, J. M., Nakatsu, Y., Gondo, Y., Lee, S., Lyon, M. F., King, R. A., Brilliant, M. H. <strong>The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes.</strong> Science 257: 1121-1124, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1509264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1509264</a>] [<a href="https://doi.org/10.1126/science.257.5073.1121" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1509264">Gardner et al. (1992)</a> found that the murine transcript for the p gene was missing or altered in 6 independent mutant alleles of the p locus derived from hypopigmented mice, suggesting that disruption of this gene is responsible for the disorder. The authors noted that although hypopigmentation characterizes both Prader-Willi and Angelman syndromes, other features of these disorders are not found in the p mouse. Mice heterozygous for mutant p alleles are fully pigmented regardless of the parental origin of the mutant allele, suggesting that the mouse gene is not affected by imprinting. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1509264" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Gondo, Y., Gardner, J. M., Nakatsu, Y., Durham-Pierre, D., Deveau, S. A., Kuper, C., Brilliant, M. H. <strong>High-frequency genetic reversion mediated by a DNA duplication: the mouse pink-eyed unstable mutation.</strong> Proc. Nat. Acad. Sci. 90: 297-301, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8419934/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8419934</a>] [<a href="https://doi.org/10.1073/pnas.90.1.297" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8419934">Gondo et al. (1993)</a> studied the mouse pink-eyed unstable mutation, p(un), affecting coat color, which exhibits one of the highest reported reversion frequencies of any mammalian mutation and is associated with a duplication of genomic DNA at the p locus. They showed that DNA from p(un) was distinguished from wildtype and revertant DNA by a head-to-tail tandem duplication of approximately 70 kb. No differences were detected between revertant and wildtype DNAs. Thus, the reversion in phenotype was coupled with a loss of one copy of the 70-kb duplicated segment. They commented that the mouse p locus has a human homolog in D15S12 and that duplications of this gene occur in about 6% of Prader-Willi syndrome patients (<a href="#13" class="mim-tip-reference" title="Hamabe, J., Fukushima, Y., Harada, N., Abe, K., Matsuo, N., Nagai, T., Yoshioka, A., Tonoki, H., Tsukino, R., Niikawa, N. <strong>Molecular study of the Prader-Willi syndrome: deletion, RFLP, and phenotype analyses of 50 patients.</strong> Am. J. Med. Genet. 41: 54-63, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1683159/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1683159</a>] [<a href="https://doi.org/10.1002/ajmg.1320410116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1683159">Hamabe et al., 1991</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1683159+8419934" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Hagiwara, N., Klewer, S. E., Samson, R. A., Erickson, D. T., Lyon, M. F., Brilliant, M. H. <strong>Sox6 is a candidate gene for p100H myopathy, heart block, and sudden neonatal death.</strong> Proc. Nat. Acad. Sci. 97: 4180-4185, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10760285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10760285</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10760285[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.97.8.4180" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10760285">Hagiwara et al. (2000)</a> characterized a radiation-induced mutant allele of the mouse p locus that was associated with failure-to-thrive syndrome and diminished pigmentation. Homozygous mice showed delayed growth and died within 2 weeks of birth. They developed progressive atrioventricular heart block and significant ultrastructural changes in both cardiac and skeletal muscle cells. <a href="#11" class="mim-tip-reference" title="Hagiwara, N., Klewer, S. E., Samson, R. A., Erickson, D. T., Lyon, M. F., Brilliant, M. H. <strong>Sox6 is a candidate gene for p100H myopathy, heart block, and sudden neonatal death.</strong> Proc. Nat. Acad. Sci. 97: 4180-4185, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10760285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10760285</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10760285[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.97.8.4180" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10760285">Hagiwara et al. (2000)</a> determined that the mutation was associated with a chromosome 7 inversion that disrupted both the p gene and the Sox6 gene (<a href="/entry/607257">607257</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10760285" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#27" class="mim-tip-reference" title="Protas, M. E., Hersey, C., Kochanek, D., Zhou, Y., Wilkens, H., Jeffery, W. R., Zon, L. I., Borowsky, R., Tabin, C. J. <strong>Genetic analysis of cavefish reveals molecular convergence in the evolution of albinism.</strong> Nature Genet. 38: 107-111, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16341223/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16341223</a>] [<a href="https://doi.org/10.1038/ng1700" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16341223">Protas et al. (2006)</a> generated a genomewide linkage map to allow quantitative trait analysis of evolutionarily derived morphologies in the Mexican cave tetra, a species that has, in a series of independent caves, repeatedly evolved specialized characteristics adapted to a unique and well-studied ecologic environment. They focused on the trait of albinism and discovered that it is linked to the Oca2 gene in 2 cave populations. They found different deletions in Oca2 in each population, and, using a cell-based assay, showed that both caused loss of function of the corresponding protein. Thus, the 2 cave populations evolved albinism independently, through similar mutational events. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16341223" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0001 ALBINISM, OCULOCUTANEOUS, TYPE II</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1555375711 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555375711;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1555375711" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1555375711" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In affected members of a consanguineous kindred with oculocutaneous albinism type II (OCA2; <a href="/entry/203200">203200</a>), <a href="#7" class="mim-tip-reference" title="Durham-Pierre, D., Gardner, J. M., Nakatsu, Y., King, R. A., Francke, U., Ching, A., Aquaron, R., del Marmol, V., Brilliant, M. H. <strong>African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism.</strong> Nature Genet. 7: 176-179, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7920637/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7920637</a>] [<a href="https://doi.org/10.1038/ng0694-176" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7920637">Durham-Pierre et al. (1994)</a> identified a homozygous 2.7-kb deletion encompassing an exon of the P gene. The kindred was of African, Caucasian, and American Indian descent. The same deletion allele was identified in unrelated African Americans, Haitian, and Africans with OCA2, suggesting a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7920637" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Brown oculocutaneous albinism (BOCA) is also linked to the P locus, and the occurrence of both OCA2 and BOCA within the same family suggested that these disorders are allelic. <a href="#26" class="mim-tip-reference" title="Manga, P. <strong>Identification and molecular characterisation of the genes for brown and rufous oculocutaneous albinism in southern Africa.</strong> Ph.D. Thesis: University of the Witwatersrand, Johannesburg 1997."None>Manga (1997)</a> found that a large proportion (9/10) of BOCA subjects were compound heterozygotes with the 2.7-kb deletion of the OCA2 gene on one allele. <a href="#25" class="mim-tip-reference" title="Manga, P., Kromberg, J. G. R., Turner, A., Jenkins, T., Ramsay, M. <strong>In southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified.</strong> Am. J. Hum. Genet. 68: 782-787, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11179026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11179026</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11179026[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/318800" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11179026">Manga et al. (2001)</a> demonstrated that 10 persons with brown oculocutaneous albinism in southern Africa were heterozygous for the 2.7-kb deletion. They did not succeed in defining the second mutation but presumed that it was a milder mutation, possibly in the promoter region (downregulating expression) or in other regions of the P gene they did not screen. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11179026" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By analyzing a 5-SNP haplotype of the OCA2 gene in 53 unrelated Cameroonian OCA2 patients homozygous for the 2.7-kb deletion and 48 ethnically matched controls, <a href="#2" class="mim-tip-reference" title="Aquaron, R., Soufir, N., Berge-Lefranc, J.-L., Badens, C., Austerlitz, F., Grandchamp, B. <strong>Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene.</strong> J. Hum. Genet. 52: 771-780, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17767372/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17767372</a>] [<a href="https://doi.org/10.1007/s10038-007-0181-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17767372">Aquaron et al. (2007)</a> estimated that the mutation originated 4,100 to 5,645 years ago. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17767372" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs387906240 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906240;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs387906240?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387906240" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387906240" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 7-year-old girl of northern European ancestry with a mild form of oculocutaneous albinism type II (OCA2; <a href="/entry/203200">203200</a>), <a href="#20" class="mim-tip-reference" title="Lee, S.-T., Nicholls, R. D., Bundey, S., Laxova, R., Musarella, M., Spritz, R. A. <strong>Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.</strong> New Eng. J. Med. 330: 529-534, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8302318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8302318</a>] [<a href="https://doi.org/10.1056/NEJM199402243300803" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8302318">Lee et al. (1994)</a> identified compound heterozygosity for 2 mutations in the OCA2 gene: a G-to-T transversion in the first nucleotide of the donor splice junction of IVS17 gene, and A481T (<a href="#0003">611409.0003</a>). The patient's skin was fair but tanned normally, and her hair was reddish brown. Her irides were blue and showed transillumination, and the fundi appeared nonpigmented, with hypoplastic maculae. She had nystagmus and severe myopia, with corrected visual acuity of 20/200. Her parents were unrelated and had normal pigmentation, and there was no family history of albinism. Hair-bulb tyrosinase activity was normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8302318" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs74653330 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs74653330;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs74653330?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs74653330" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs74653330" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a girl with a mild form of oculocutaneous albinism type II (OCA2; <a href="/entry/203200">203200</a>), <a href="#20" class="mim-tip-reference" title="Lee, S.-T., Nicholls, R. D., Bundey, S., Laxova, R., Musarella, M., Spritz, R. A. <strong>Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.</strong> New Eng. J. Med. 330: 529-534, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8302318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8302318</a>] [<a href="https://doi.org/10.1056/NEJM199402243300803" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8302318">Lee et al. (1994)</a> identified compound heterozygosity for 2 substitutions in the OCA2 gene: an ala481-to-thr (A481T) change and a splice site mutation (<a href="#0002">611409.0002</a>). <a href="#20" class="mim-tip-reference" title="Lee, S.-T., Nicholls, R. D., Bundey, S., Laxova, R., Musarella, M., Spritz, R. A. <strong>Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.</strong> New Eng. J. Med. 330: 529-534, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8302318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8302318</a>] [<a href="https://doi.org/10.1056/NEJM199402243300803" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8302318">Lee et al. (1994)</a> estimated the frequency of the A481T substitution to be 0.01 in normal Caucasian individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8302318" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a cellular transfection study, <a href="#36" class="mim-tip-reference" title="Sviderskaya, E. V., Bennett, D. C., Ho, L., Bailin, T., Lee, S.-T., Spritz, R. A. <strong>Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences.</strong> J. Invest. Derm. 108: 30-34, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8980282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8980282</a>] [<a href="https://doi.org/10.1111/1523-1747.ep12285621" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8980282">Sviderskaya et al. (1997)</a> showed that the thr481 allele had approximately 70% residual function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8980282" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#35" class="mim-tip-reference" title="Suzuki, T., Miyamura, Y., Tomita, Y. <strong>High frequency of the ala481thr mutation of the P gene in the Japanese population. (Letter)</strong> Am. J. Med. Genet. 118A: 402-403, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12687678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12687678</a>] [<a href="https://doi.org/10.1002/ajmg.a.20044" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12687678">Suzuki et al. (2003)</a> found that the allele frequency of thr481 was 0.12 in normally pigmented Japanese individuals. Two individuals who were homozygous were entirely normal with respect to pigmentation of the eyes, skin, and hair. The findings suggested that the thr481 only results in the OCA2 phenotype when combined with a null or almost null mutant OCA2 allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12687678" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#39" class="mim-tip-reference" title="Yuasa, I., Umetsu, K., Harihara, S., Miyoshi, A., Saitou, N., Park, K. S., Dashnyam, B., Jin, B., Lucotte, G., Chattopadhyay, P. K., Henke, L., Henke, J. <strong>OCA2*481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations.</strong> J. Hum. Genet. 52: 690-693, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17568986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17568986</a>] [<a href="https://doi.org/10.1007/s10038-007-0167-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17568986">Yuasa et al. (2007)</a> stated that the A481T substitution results from a 1559G-A transition in exon 14 of the OCA2 gene. Among more than 2,615 healthy individuals from 20 African and Eurasian populations, <a href="#39" class="mim-tip-reference" title="Yuasa, I., Umetsu, K., Harihara, S., Miyoshi, A., Saitou, N., Park, K. S., Dashnyam, B., Jin, B., Lucotte, G., Chattopadhyay, P. K., Henke, L., Henke, J. <strong>OCA2*481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations.</strong> J. Hum. Genet. 52: 690-693, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17568986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17568986</a>] [<a href="https://doi.org/10.1007/s10038-007-0167-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17568986">Yuasa et al. (2007)</a> found that the thr481 allele prevailed almost exclusively in a northeastern part of Asia. The allele frequency was highest in Buryat (0.24) in Mongolia and showed a north-south gradient. The findings suggested that thr481 allele arose in a region of low ultraviolet radiation and thereafter spread to neighboring populations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17568986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918166 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918166;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121918166?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001006 OR RCV000310636 OR RCV000477815 OR RCV000623104 OR RCV002251850 OR RCV003415611 OR RCV003466772 OR RCV004584136" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001006, RCV000310636, RCV000477815, RCV000623104, RCV002251850, RCV003415611, RCV003466772, RCV004584136" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001006...</a>
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<p>In a 4-year-old boy of northern European ancestry with typical type II oculocutaneous albinism (OCA2; <a href="/entry/203200">203200</a>), <a href="#20" class="mim-tip-reference" title="Lee, S.-T., Nicholls, R. D., Bundey, S., Laxova, R., Musarella, M., Spritz, R. A. <strong>Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.</strong> New Eng. J. Med. 330: 529-534, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8302318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8302318</a>] [<a href="https://doi.org/10.1056/NEJM199402243300803" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8302318">Lee et al. (1994)</a> identified compound heterozygosity for 2 mutations in the OCA2 gene: a G-to-A transition, resulting in a val443-to-ile (V443I) substitution inherited from the mother, and a C-to-T transition in exon 22 resulting in a pro743-to-leu (P743L; <a href="#0005">611409.0005</a>) substitution inherited from the father. The patient's skin was very lightly pigmented with no apparent tanning ability, and his hair was pale golden yellow. His irides were blue and showed transillumination, and the fundi appeared nonpigmented, with hypoplastic maculae. His corrected visual acuity was 20/100, and he had nystagmus and strabismus. Chromosomal analysis demonstrated mosaicism for 46,XY and 46,XY,dup(15)(q12). The duplication, which occurred in 25% of stimulated peripheral-blood leukocytes, was interpreted as a nonpathologic chromosomal variant (<a href="#23" class="mim-tip-reference" title="Ludowese, C. J., Thompson, K. J., Sekhon, G. S., Pauli, R. M. <strong>Absence of predictable phenotypic expression in proximal 15q duplications.</strong> Clin. Genet. 40: 194-201, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1773534/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1773534</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1991.tb03076.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1773534">Ludowese et al., 1991</a>). <a href="#20" class="mim-tip-reference" title="Lee, S.-T., Nicholls, R. D., Bundey, S., Laxova, R., Musarella, M., Spritz, R. A. <strong>Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.</strong> New Eng. J. Med. 330: 529-534, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8302318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8302318</a>] [<a href="https://doi.org/10.1056/NEJM199402243300803" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8302318">Lee et al. (1994)</a> found the same V443I substitution on the maternally derived chromosome 15 in a 7-year-old boy with typical type II oculocutaneous albinism and Prader-Willi syndrome (PWS; <a href="/entry/176270">176270</a>), the latter being due to deletion of 15q11.2-q13.1 derived from the father. The paternal OCA2 gene was deleted in this child. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1773534+8302318" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a mother and 3 of her children in a Czech family with oculocutaneous or ocular albinism, <a href="#15" class="mim-tip-reference" title="Jedlickova, J., Vajter, M., Barta, T., Black, G. C. M., Perveen, R., Mares, J., Fichtl, M., Kousal, B., Dudakova, L., Liskova, P. <strong>MIR204 n.37C-T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma.</strong> Clin. Genet. 104: 418-426, 2023.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/37321975/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">37321975</a>] [<a href="https://doi.org/10.1111/cge.14391" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="37321975">Jedlickova et al. (2023)</a> identified homozygosity or compound heterozygosity for the V443I mutation in the OCA2 gene. The mother and a daughter, who both had oculocutaneous albinism, were compound heterozygous for V443I and a large complex rearrangement in the OCA2 gene, whereas the 2 sons, who had ocular albinism, were homozygous for the V443I substitution. The authors noted that the sons had normal visual acuity with discrete fundus hypopigmentation and foveal hypoplasia, which was only revealed due to the familial investigation; they suggested that these findings supported the notion of V443I as a hypomorphic allele causing only a partial loss of function, thus accounting for the 4 homozygous individuals present in the gnomAD database (v2.1.1). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=37321975" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918167 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918167;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121918167?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918167" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918167" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the pro743-to-val (P743V) mutation in the OCA2 gene that was found in compound heterozygous state in a patient with oculocutaneous albinism type II (OCA2; <a href="/entry/203200">203200</a>) by <a href="#20" class="mim-tip-reference" title="Lee, S.-T., Nicholls, R. D., Bundey, S., Laxova, R., Musarella, M., Spritz, R. A. <strong>Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.</strong> New Eng. J. Med. 330: 529-534, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8302318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8302318</a>] [<a href="https://doi.org/10.1056/NEJM199402243300803" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8302318">Lee et al. (1994)</a>, see <a href="#0004">611409.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8302318" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs387906241 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387906241;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs387906241?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs387906241" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs387906241" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001008" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001008" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001008</a>
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<p>In an 8-year-old Pakistani girl with severe type II oculocutaneous albinism (OCA2; <a href="/entry/203200">203200</a>), <a href="#20" class="mim-tip-reference" title="Lee, S.-T., Nicholls, R. D., Bundey, S., Laxova, R., Musarella, M., Spritz, R. A. <strong>Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.</strong> New Eng. J. Med. 330: 529-534, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8302318/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8302318</a>] [<a href="https://doi.org/10.1056/NEJM199402243300803" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8302318">Lee et al. (1994)</a> identified a homozygous 1-bp deletion of the first base in codon 654 of the OCA2 gene, resulting in a frameshift and premature termination of the protein at codon 662. The patient was a member of a large and highly consanguineous kindred. Her skin was virtually white, with no apparent tanning ability, and her hair was pale golden yellow. Her irides were pale blue and showed transillumination, and the optic fundi appeared nonpigmented with hypoplastic maculae. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8302318" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918168 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918168;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121918168?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918168" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918168" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001009 OR RCV001851522 OR RCV003466773" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001009, RCV001851522, RCV003466773" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001009...</a>
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<p>In a study of southern African blacks with oculocutaneous albinism type II (OCA2; <a href="/entry/203200">203200</a>) who had at least 1 allele of the OCA2 gene that was not the common 2.7-kb deletion (<a href="#0001">611409.0001</a>), <a href="#17" class="mim-tip-reference" title="Kerr, R., Stevens, G., Manga, P., Salm, S., John, P., Haw, T., Ramsay, M. <strong>Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.</strong> Hum. Mutat. 15: 166-172, 2000. Note: Erratum: Hum. Mutat. 16: following 86, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10649493/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10649493</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(200002)15:2<166::AID-HUMU5>3.0.CO;2-Z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10649493">Kerr et al. (2000)</a> found 4 mutations in the OCA2 gene, 1 of which was an ala334-to-val (A334V) substitution in the second transmembrane domain of the OCA2 protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10649493" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#38" class="mim-tip-reference" title="Yi, Z., Garrison, N., Cohen-Barak, O., Karafet, T. M., King, R. A., Erickson, R. P., Hammer, M. F., Brilliant, M. H. <strong>A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population.</strong> Am. J. Hum. Genet. 72: 62-72, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12469324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12469324</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12469324[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/345380" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12469324">Yi et al. (2003)</a> found a LINE-mediated 122.5-kb deletion of the OCA2 gene as the cause of frequently occurring oculocutaneous albinism type II (OCA2; <a href="/entry/203200">203200</a>) among Navajo of northeastern Arizona. The deletion removed exons 10 through 20. Although it did not disrupt the reading frame of the gene, it removed 345 of the total 838 amino acids. The 12 transmembrane domains of the wildtype protein were reduced to 5. Sequence analysis of the breakpoints and the flanking sequences showed that both breakpoints were exactly end-joined and both were found within long interspersed nucleotide elements (LINEs). However, the breakpoint LINEs were oppositely oriented, and no sequence homology between them was found at the breakpoint juncture. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12469324" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 ALBINISM, OCULOCUTANEOUS, TYPE II</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918169 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918169;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121918169?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918169" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918169" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001011 OR RCV001093225 OR RCV001262139 OR RCV003317027 OR RCV005007802" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001011, RCV001093225, RCV001262139, RCV003317027, RCV005007802" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001011...</a>
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<p>In a patient with oculocutaneous albinism type II (OCA2; <a href="/entry/203200">203200</a>), <a href="#18" class="mim-tip-reference" title="King, R. A., Willaert, R. K., Schmidt, R. M., Pietsch, J., Savage, S., Brott, M. J., Fryer, J. P., Summers, C. G., Oetting, W. S. <strong>MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).</strong> Am. J. Hum. Genet. 73: 638-645, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12876664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12876664</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12876664[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/377569" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12876664">King et al. (2003)</a> found compound heterozygosity for 2 mutations in the OCA2 gene: trp679-to-cys (W679C) on the maternal allele and asn489-to-asp (N489D; <a href="#0010">611409.0010</a>) on the paternal allele. This patient represented an unusual pigmentation phenotype that involved red rather than yellow hair. Indeed, <a href="#18" class="mim-tip-reference" title="King, R. A., Willaert, R. K., Schmidt, R. M., Pietsch, J., Savage, S., Brott, M. J., Fryer, J. P., Summers, C. G., Oetting, W. S. <strong>MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).</strong> Am. J. Hum. Genet. 73: 638-645, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12876664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12876664</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12876664[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/377569" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12876664">King et al. (2003)</a> found a mutation in the MC1R gene (<a href="/entry/155555#0004">155555.0004</a>) to be responsible for the red hair in this patient and in 5 others with OCA2 who continued to have red hair after birth. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12876664" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121918170 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918170;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121918170?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121918170" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121918170" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the asn489-to-asp (N489D) mutation in the OCA2 gene that was found in compound heterozygous state in a patient with oculocutaneous albinism type II (OCA2; <a href="/entry/203200">203200</a>) by <a href="#18" class="mim-tip-reference" title="King, R. A., Willaert, R. K., Schmidt, R. M., Pietsch, J., Savage, S., Brott, M. J., Fryer, J. P., Summers, C. G., Oetting, W. S. <strong>MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).</strong> Am. J. Hum. Genet. 73: 638-645, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12876664/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12876664</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12876664[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/377569" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12876664">King et al. (2003)</a>, see <a href="#0009">611409.0009</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12876664" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0011 SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1800401 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1800401;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs1800401?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1800401" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1800401" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000001013 OR RCV000180482 OR RCV000312067 OR RCV001522992 OR RCV002490287" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001013, RCV000180482, RCV000312067, RCV001522992, RCV002490287" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001013...</a>
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<p>Using a sample of 629 normally pigmented individuals, <a href="#28" class="mim-tip-reference" title="Rebbeck, T. R., Kanetsky, P. A., Walker, A. H., Holmes, R., Halpern, A. C., Schuchter, L. M., Elder, D. E., Guerry, D. <strong>P gene as an inherited biomarker of human eye color.</strong> Cancer Epidemiol. Biomarkers Prev. 11: 782-784, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12163334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12163334</a>]" pmid="12163334">Rebbeck et al. (2002)</a> found that individuals carrying the OCA2 variants arg305-to-trp (R305W) or arg419-to-gln (R419Q) (<a href="#0012">611409.0012</a>) or both were more likely to have nonblue eyes (see <a href="/entry/227220">227220</a>) (P = 0.002, 0.001, and 0.003, respectively). The R305W variant was associated with brown eyes. These results suggested that the OCA2 gene may, in part, determine normal phenotypic variation in human eye color and may therefore represent an inherited biomarker of cutaneous cancer risk. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12163334" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Jannot, A.-S., Meziani, R., Bertrand, G., Gerard, B., Descamps, V., Archimbaud, A., Picard, C., Ollivaud, L., Basset-Seguin, N., Kerob, D., Lanternier, G., Lebbe, C., Saiag, P., Crickx, B., Clerget-Darpoux, F., Grandchamp, B., Soufir, N., Melan-Cohort. <strong>Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.</strong> Europ. J. Hum. Genet. 13: 913-920, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15889046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15889046</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201415" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15889046">Jannot et al. (2005)</a> replicated the association of the R305W variant in OCA2 with nonblue eye color in a French population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15889046" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs1800407 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1800407;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs1800407?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs1800407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs1800407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the arg419-to-gln (R419Q) mutation in the OCA2 gene that was found in individuals with nonblue eyes (see <a href="/entry/227220">227220</a>) by <a href="#28" class="mim-tip-reference" title="Rebbeck, T. R., Kanetsky, P. A., Walker, A. H., Holmes, R., Halpern, A. C., Schuchter, L. M., Elder, D. E., Guerry, D. <strong>P gene as an inherited biomarker of human eye color.</strong> Cancer Epidemiol. Biomarkers Prev. 11: 782-784, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12163334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12163334</a>]" pmid="12163334">Rebbeck et al. (2002)</a>, see <a href="#0011">611409.0011</a>. <a href="#28" class="mim-tip-reference" title="Rebbeck, T. R., Kanetsky, P. A., Walker, A. H., Holmes, R., Halpern, A. C., Schuchter, L. M., Elder, D. E., Guerry, D. <strong>P gene as an inherited biomarker of human eye color.</strong> Cancer Epidemiol. Biomarkers Prev. 11: 782-784, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12163334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12163334</a>]" pmid="12163334">Rebbeck et al. (2002)</a> found that the R419Q variant was associated with green/hazel eyes (see <a href="/entry/227220">227220</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12163334" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#14" class="mim-tip-reference" title="Jannot, A.-S., Meziani, R., Bertrand, G., Gerard, B., Descamps, V., Archimbaud, A., Picard, C., Ollivaud, L., Basset-Seguin, N., Kerob, D., Lanternier, G., Lebbe, C., Saiag, P., Crickx, B., Clerget-Darpoux, F., Grandchamp, B., Soufir, N., Melan-Cohort. <strong>Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.</strong> Europ. J. Hum. Genet. 13: 913-920, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15889046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15889046</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201415" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15889046">Jannot et al. (2005)</a> were unable to replicate the association of the R419Q variant of OCA2 with nonblue eye color in a French population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15889046" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#33" class="mim-tip-reference" title="Sturm, R. A., Duffy, D. L., Zhao, Z. Z., Leite, F. P. N., Stark, M. S., Hayward, N. K., Martin, N. G., Montgomery, G. W. <strong>A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.</strong> Am. J. Hum. Genet. 82: 424-431, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18252222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18252222</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18252222[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2007.11.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18252222">Sturm et al. (2008)</a> demonstrated that the OCA2 coding SNP R419Q (<a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1800407;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs1800407</a>) acts as a penetrance modifier of HERC2 <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs12913832;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs12913832</a> (<a href="/entry/605837#0003">605837.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18252222" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0013 SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs4778138 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs4778138;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs4778138?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs4778138" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs4778138" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs4778241 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs4778241;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs4778241?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs4778241" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs4778241" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div> <div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs7495174 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs7495174;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs7495174?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs7495174" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs7495174" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>To clarify the role of OCA2 locus in the inheritance of eye color and other pigmentary traits associated with skin-cancer risk in white populations, <a href="#6" class="mim-tip-reference" title="Duffy, D. L., Montgomery, G. W., Chen, W., Zhao, Z. Z., Le, L., James, M. R., Hayward, N. K., Martin, N. G., Sturm, R. A. <strong>A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.</strong> Am. J. Hum. Genet. 80: 241-252, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17236130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17236130</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17236130[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/510885" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17236130">Duffy et al. (2007)</a> genotyped 3,839 adolescent twins, sibs, and parents for 58 synonymous and nonsynonymous exonic SNPs and tagging SNPs at the OCA2 locus. The authors found that the highest association for blue/nonblue eye color (<a href="/entry/227220">227220</a>) was found with 3 OCA2 SNPs in intron 1: <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs7495174;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs7495174</a>, T/C; <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs4778241;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs4778241</a> (formerly rs6497268), G/T; and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs4778138;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs4778138</a> (formerly 11855019), T/C. These 3 SNPs are in 1 major haplotype block, with TGT representing 78.4% of alleles. The TGT/TGT diplotype found in 62.2% of samples was the major genotype seen to modify eye color, with a frequency of 0.905 in blue or green compared with only 0.095 in brown eye color. This genotype was also at highest frequency in subjects with light brown hair and was more frequent in fair and medium skin types, consistent with the TGT haplotype acting as a recessive modifier of lighter pigmentary phenotypes. Homozygotes for <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs4778138;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs4778138</a> C/C were predominantly without freckles and had lower mole counts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17236130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an association study of pigmentation variants using Icelandic and Dutch population samples, <a href="#34" class="mim-tip-reference" title="Sulem, P., Gudbjartsson, D. F., Stacey, S. N., Helgason, A., Rafnar, T., Magnusson, K. P., Manolescu, A., Karason, A., Palsson, A., Thorleifsson, G., Jakobsdottir, M., Steinberg, S., and 13 others. <strong>Genetic determinants of hair, eye and skin pigmentation in Europeans.</strong> Nature Genet. 39: 1443-1452, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17952075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17952075</a>] [<a href="https://doi.org/10.1038/ng.2007.13" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17952075">Sulem et al. (2007)</a> found association of the <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs7495174;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs7495174</a>, <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs4778241;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs4778241</a>, and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs4778138;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs4778138</a> identified by <a href="#6" class="mim-tip-reference" title="Duffy, D. L., Montgomery, G. W., Chen, W., Zhao, Z. Z., Le, L., James, M. R., Hayward, N. K., Martin, N. G., Sturm, R. A. <strong>A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.</strong> Am. J. Hum. Genet. 80: 241-252, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17236130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17236130</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17236130[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/510885" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17236130">Duffy et al. (2007)</a> with blue eye color and blond hair. The A allele of <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs7495174;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs7495174</a> was strongly associated with blue versus brown eyes (OR = 6.90, p = 3.0 x 10(-24)). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17952075+17236130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0014 ALBINISM, OCULOCUTANEOUS, TYPE II</strong>
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<p>In a 21-year-old Japanese man with subclinical oculocutaneous albinism type II (OCA2; <a href="/entry/203200">203200</a>), <a href="#16" class="mim-tip-reference" title="Kawai, M., Suzuki, T., Ito, S., Inagaki, K., Suzuki, N., Tomita, Y. <strong>A patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned.</strong> Dermatology 210: 322-323, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15942220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15942220</a>] [<a href="https://doi.org/10.1159/000084758" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15942220">Kawai et al. (2005)</a> identified compound heterozygosity for 2 mutations in the OCA2 gene: a G-to-A transition, resulting in a met394-to-ile (M394I) substitution, and A481T (<a href="#0003">611409.0003</a>). The man presented with a severe blistering sunburn on the back and upper arms after bathing in the sea for about 1 hour. He had a superficial dermal burn over 18% of the body surface and was admitted to the hospital for treatment. He was noted to have pale skin, but dark brown hair and irides. <a href="#16" class="mim-tip-reference" title="Kawai, M., Suzuki, T., Ito, S., Inagaki, K., Suzuki, N., Tomita, Y. <strong>A patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned.</strong> Dermatology 210: 322-323, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15942220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15942220</a>] [<a href="https://doi.org/10.1159/000084758" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15942220">Kawai et al. (2005)</a> noted that this patient had a subclinical form of OCA2 with pale skin and little resistance to the stress of sunburn. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15942220" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0015 ALBINISM, OCULOCUTANEOUS, TYPE II</strong>
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OCA2, 184-KB DEL
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000023893" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023893" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023893</a>
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<p>In 3 unrelated patients of Polish ancestry with oculocutaneous albinism type II (OCA2; <a href="/entry/203200">203200</a>), <a href="#31" class="mim-tip-reference" title="Rooryck, C., Morice-Picard, F., Lasseaux, E., Cailley, D., Dollfus, H., Defoort-Dhellemme, S., Duban-Bedu, B., de Ravel, T. J. L., Taieb, A., Lacombe, D., Arveiler, B. <strong>High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients.</strong> Hum. Genet. 129: 199-208, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21085994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21085994</a>] [<a href="https://doi.org/10.1007/s00439-010-0913-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21085994">Rooryck et al. (2011)</a> identified a 184-kB deletion in the OCA2 gene (chr15:25,793,533-25,977,380, NCBI36.1) encompassing exons 3 to 20. One patient was homozygous for the deletion, and another was compound heterozygous for the deletion and another pathogenic OCA2 mutation. A second mutation could not be identified in the third patient. Haplotype analysis indicated a founder effect. Sequence analysis showed that the 2 breakpoints were located in repeat-rich regions containing numerous Alu and L1 repeats, suggesting nonhomologous end joining as the molecular mechanism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21085994" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="seeAlso" class="mim-anchor"></a>
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<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimSeeAlsoToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>See Also:</strong>
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<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
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<a href="#Brilliant1992" class="mim-tip-reference" title="Brilliant, M. H. <strong>The mouse pink-eyed dilution locus: a model for aspects of Prader-Willi syndrome, Angelman syndrome, and a form of hypomelanosis of Ito.</strong> Mammalian Genome 3: 187-191, 1992.">Brilliant (1992)</a>; <a href="#Waardenburg1961" class="mim-tip-reference" title="Waardenburg, P. J. <strong>Genetics and Ophthalmology. Vol. 1.</strong> Springfield, Ill.: Charles C Thomas (pub.) 1961. P. 732.">Waardenburg (1961)</a>
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<br />
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<strong>Interaction between the melanocortin-1 receptor and P genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11499678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11499678</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11499678" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s004390100524" target="_blank">Full Text</a>]
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<strong>Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17767372/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17767372</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17767372" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s10038-007-0181-y" target="_blank">Full Text</a>]
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<a id="Brilliant1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Brilliant, M. H.
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<strong>The mouse pink-eyed dilution locus: a model for aspects of Prader-Willi syndrome, Angelman syndrome, and a form of hypomelanosis of Ito.</strong>
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Mammalian Genome 3: 187-191, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1611213/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1611213</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1611213" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00355717" target="_blank">Full Text</a>]
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<a id="Crawford2017" class="mim-anchor"></a>
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Crawford, N. G., Kelly, D. E., Hansen, M. E. B., Beltrame, M. H., Fan, S., Bowman, S. L., Jewett, E., Ranciaro, A., Thompson, S., Lo, Y., Pfeifer, S. P., Jensen, J. D., and 36 others.
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<strong>Loci associated with skin pigmentation identified in African populations.</strong>
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Science 358: eaan8433, 2017. Note: Electronic Article. Erratum: Science 367: eaba7178, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29025994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29025994</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29025994[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29025994" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.aan8433" target="_blank">Full Text</a>]
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<a id="Donlon1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Donlon, T. A., Lalande, M., Wyman, A., Bruns, G., Latt, S. A.
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<strong>Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome.</strong>
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Proc. Nat. Acad. Sci. 83: 4408-4412, 1986. Note: Erratum: Proc. Nat. Acad. Sci. 83: 6964 only, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3012567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3012567</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3012567" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.83.12.4408" target="_blank">Full Text</a>]
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Duffy, D. L., Montgomery, G. W., Chen, W., Zhao, Z. Z., Le, L., James, M. R., Hayward, N. K., Martin, N. G., Sturm, R. A.
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<strong>A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17236130/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17236130</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17236130[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17236130" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/510885" target="_blank">Full Text</a>]
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<a id="Durham-Pierre1994" class="mim-anchor"></a>
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Durham-Pierre, D., Gardner, J. M., Nakatsu, Y., King, R. A., Francke, U., Ching, A., Aquaron, R., del Marmol, V., Brilliant, M. H.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7920637/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7920637</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7920637" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng0694-176" target="_blank">Full Text</a>]
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<a id="Frudakis2007" class="mim-anchor"></a>
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<div class="">
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[<a href="https://doi.org/10.1007/s00439-007-0401-8" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
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<a id="Gardner1992" class="mim-anchor"></a>
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<div class="">
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Gardner, J. M., Nakatsu, Y., Gondo, Y., Lee, S., Lyon, M. F., King, R. A., Brilliant, M. H.
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<strong>The mouse pink-eyed dilution gene: association with human Prader-Willi and Angelman syndromes.</strong>
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Science 257: 1121-1124, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1509264/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1509264</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1509264" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.257.5073.1121" target="_blank">Full Text</a>]
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<a id="Gondo1993" class="mim-anchor"></a>
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Gondo, Y., Gardner, J. M., Nakatsu, Y., Durham-Pierre, D., Deveau, S. A., Kuper, C., Brilliant, M. H.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8419934/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8419934</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8419934" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.90.1.297" target="_blank">Full Text</a>]
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<a id="Hagiwara2000" class="mim-anchor"></a>
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Hagiwara, N., Klewer, S. E., Samson, R. A., Erickson, D. T., Lyon, M. F., Brilliant, M. H.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10760285/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10760285</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10760285[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10760285" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.97.8.4180" target="_blank">Full Text</a>]
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Haldane, J. B. S., Sprunt, A. D., Haldane, N. M.
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<a id="Hamabe1991" class="mim-anchor"></a>
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Hamabe, J., Fukushima, Y., Harada, N., Abe, K., Matsuo, N., Nagai, T., Yoshioka, A., Tonoki, H., Tsukino, R., Niikawa, N.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1683159/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1683159</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1683159" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.1320410116" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/cge.14391" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000084758" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1002/(SICI)1098-1004(200002)15:2<166::AID-HUMU5>3.0.CO;2-Z" target="_blank">Full Text</a>]
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<a id="31" class="mim-anchor"></a>
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<a id="Rooryck2011" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Rooryck, C., Morice-Picard, F., Lasseaux, E., Cailley, D., Dollfus, H., Defoort-Dhellemme, S., Duban-Bedu, B., de Ravel, T. J. L., Taieb, A., Lacombe, D., Arveiler, B.
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<strong>High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients.</strong>
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[<a href="https://doi.org/10.1007/s00439-010-0913-5" target="_blank">Full Text</a>]
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<a id="Rosemblat1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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<strong>Identification of a melanosomal membrane protein encoded by the pink-eyed dilution (type II oculocutaneous albinism) gene.</strong>
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[<a href="https://doi.org/10.1073/pnas.91.25.12071" target="_blank">Full Text</a>]
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<a id="Sturm2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sturm, R. A., Duffy, D. L., Zhao, Z. Z., Leite, F. P. N., Stark, M. S., Hayward, N. K., Martin, N. G., Montgomery, G. W.
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<strong>A single SNP in an evolutionary conserved region within intron 86 of the HERC2 gene determines human blue-brown eye color.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18252222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18252222</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18252222[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18252222" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2007.11.005" target="_blank">Full Text</a>]
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<a id="Sulem2007" class="mim-anchor"></a>
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<div class="">
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Sulem, P., Gudbjartsson, D. F., Stacey, S. N., Helgason, A., Rafnar, T., Magnusson, K. P., Manolescu, A., Karason, A., Palsson, A., Thorleifsson, G., Jakobsdottir, M., Steinberg, S., and 13 others.
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<strong>Genetic determinants of hair, eye and skin pigmentation in Europeans.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17952075/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17952075</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17952075" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.2007.13" target="_blank">Full Text</a>]
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<a id="Suzuki2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Suzuki, T., Miyamura, Y., Tomita, Y.
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<strong>High frequency of the ala481thr mutation of the P gene in the Japanese population. (Letter)</strong>
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Am. J. Med. Genet. 118A: 402-403, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12687678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12687678</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12687678" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.20044" target="_blank">Full Text</a>]
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<a id="Sviderskaya1997" class="mim-anchor"></a>
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<p class="mim-text-font">
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Sviderskaya, E. V., Bennett, D. C., Ho, L., Bailin, T., Lee, S.-T., Spritz, R. A.
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<strong>Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences.</strong>
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J. Invest. Derm. 108: 30-34, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8980282/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8980282</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8980282" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1111/1523-1747.ep12285621" target="_blank">Full Text</a>]
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<a id="37" class="mim-anchor"></a>
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<a id="Waardenburg1961" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Waardenburg, P. J.
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<strong>Genetics and Ophthalmology. Vol. 1.</strong>
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Springfield, Ill.: Charles C Thomas (pub.) 1961. P. 732.
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<a id="38" class="mim-anchor"></a>
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<a id="Yi2003" class="mim-anchor"></a>
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Yi, Z., Garrison, N., Cohen-Barak, O., Karafet, T. M., King, R. A., Erickson, R. P., Hammer, M. F., Brilliant, M. H.
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<strong>A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population.</strong>
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Am. J. Hum. Genet. 72: 62-72, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12469324/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12469324</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12469324[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12469324" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/345380" target="_blank">Full Text</a>]
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Yuasa, I., Umetsu, K., Harihara, S., Miyoshi, A., Saitou, N., Park, K. S., Dashnyam, B., Jin, B., Lucotte, G., Chattopadhyay, P. K., Henke, L., Henke, J.
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<strong>OCA2*481Thr, a hypofunctional allele in pigmentation, is characteristic of northeastern Asian populations.</strong>
|
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J. Hum. Genet. 52: 690-693, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17568986/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17568986</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17568986" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s10038-007-0167-9" target="_blank">Full Text</a>]
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<a id="40" class="mim-anchor"></a>
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<a id="Zhu2004" class="mim-anchor"></a>
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Zhu, G., Evans, D. M., Duffy, D. L., Montgomery, G. W., Medland, S. E., Gillespie, N. A., Ewen, K. R., Jewell, M., Liew, Y. W., Hayward, N. K., Sturm, R. A., Trent, J. M., Martin, N. G.
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<strong>A genome scan for eye color in 502 twin families: most variation is due to a QTL on chromosome 15q.</strong>
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Twin Res. 7: 197-210, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15169604/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15169604</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15169604" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1375/136905204323016186" target="_blank">Full Text</a>]
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<br />
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 10/24/2023
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Ada Hamosh - updated : 02/13/2018<br>Cassandra L. Kniffin - updated : 4/26/2011<br>Marla J. F. O'Neill - updated : 5/29/2008<br>Marla J. F. O'Neill - updated : 1/7/2008<br>Cassandra L. Kniffin - updated : 9/11/2007
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin : 9/4/2007
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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carol : 10/24/2023
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<span class="mim-text-font">
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alopez : 02/17/2021<br>carol : 01/28/2020<br>carol : 02/15/2018<br>carol : 02/14/2018<br>alopez : 02/13/2018<br>carol : 10/11/2016<br>alopez : 04/29/2015<br>mcolton : 4/20/2015<br>mgross : 1/14/2014<br>alopez : 9/26/2013<br>terry : 12/21/2012<br>alopez : 11/26/2012<br>terry : 3/16/2012<br>terry : 6/2/2011<br>carol : 5/25/2011<br>carol : 5/25/2011<br>wwang : 5/13/2011<br>ckniffin : 4/26/2011<br>terry : 5/11/2010<br>joanna : 3/9/2010<br>joanna : 11/16/2009<br>joanna : 11/16/2009<br>alopez : 11/16/2009<br>carol : 5/30/2008<br>terry : 5/29/2008<br>alopez : 4/4/2008<br>alopez : 4/3/2008<br>alopez : 1/18/2008<br>wwang : 1/17/2008<br>alopez : 1/16/2008<br>terry : 1/7/2008<br>carol : 9/13/2007<br>carol : 9/12/2007<br>ckniffin : 9/11/2007
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</span>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 611409
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<div>
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<h3>
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<span class="mim-font">
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OCA2 MELANOSOMAL TRANSMEMBRANE PROTEIN; OCA2
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</span>
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</h3>
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</div>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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OCA2 GENE<br />
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PINK-EYED DILUTION; PED<br />
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P GENE
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</span>
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</h4>
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<br />
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: OCA2</em></strong>
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</span>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 11160000, 26336006;
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<strong>ICD10CM:</strong> E70.321;
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</span>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 15q12-q13.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 15:27,719,008-28,099,315 </span>
|
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</em>
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</strong>
|
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<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="4">
|
|
<span class="mim-font">
|
|
15q12-q13.1
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
[Skin/hair/eye pigmentation 1, blond/brown hair]
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
227220
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
[Skin/hair/eye pigmentation 1, blue/nonblue eyes]
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
227220
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Albinism, brown oculocutaneous
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
203200
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
Albinism, oculocutaneous, type II
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
203200
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>The OCA2 gene encodes a protein that corresponds to the 'pink-eyed dilution' (p) mouse mutant. The gene product plays a role in regulating the pH of melanosomes (Yuasa et al., 2007). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Gardner et al. (1992) isolated mouse cDNA clones from the p locus from murine melanoma and melanocyte libraries. The deduced 833-residue protein has a molecular mass of 92 kD. Gardner et al. (1992) obtained the human counterpart of the murine p cDNA by screening a human melanoma cDNA library with a fragment of mouse genomic DNA. The predicted amino acid sequence of the human gene product showed 84% identity from amino acids 283 to 414 of the predicted mouse protein. </p><p>Rinchik et al. (1993) demonstrated that the human cDNA DN10, linked to the p locus in mice, identifies the human homolog (P) of the mouse p gene, and appears to encode an integral membrane transporter protein. The human P protein is an 838-amino acid polypeptide that contains 12 putative transmembrane domains and exhibits structural homology to transporters of small organic molecules. </p><p>Lee et al. (1995) noted that the 838-residue P protein contains 12 transmembrane domains arranged similarly to various transporters and appears to be an integral membrane protein of melanosomes. Sequence comparisons suggested to Lee et al. (1995) that the P protein is a member of a family of transporters that includes an E. coli Na+/H+ antiporter and that it may be a tyrosine transporter. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Lee et al. (1995) reported that the human OCA2 gene contains 25 exons spanning between 250 and 600 kb; exon 1 is noncoding. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Using pulsed field gel electrophoresis, Gardner et al. (1992) found that probes derived from the mouse p gene showed identical patterns of hybridization to those observed with the human D15S12 locus on human chromosome 15q, suggesting that the 2 were homologs. The D15S12 locus had been mapped to human chromosome 15q11.2-q12 (Donlon et al., 1986; Knoll et al., 1990; Robinson et al., 1991), the region of abnormality associated with Prader-Willi syndrome (PWS; 176270) and Angelman syndrome (AS; 105830). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Using immunoblot analysis to examine murine melanocytes, Rosemblat et al. (1994) demonstrated that the p gene encodes a 110-kD hydrophobic integral melanosomal membrane protein. The protein was absent from melanosomes cultured from 2 strains of mutant mice in which the p gene transcript was not expressed. Subcellular fractionation of cultured melanocytes showed that the protein was present in melanosomes, but absent from the vesicle-rich small granule fraction of melanocytes. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Lee et al. (1995) reported several polymorphisms in the P gene. </p><p><strong><em>Oculocutaneous Albinism Type II</em></strong></p><p>
|
|
In a patient with tyrosinase-positive oculocutaneous albinism, or OCA2 (203200), Rinchik et al. (1993) demonstrated deletion of the poly(A) tail and part of the last exon of the OCA2 gene, inherited from his mother, and deletion of the entire locus inherited from his father. The patient also had Prader-Willi syndrome. The authors noted that the prevalence of type II OCA among patients with Prader-Willi syndrome and Angelman syndrome, perhaps 1%, is consistent with the expected frequency of carriers of type II OCA, given a frequency of the disease of approximately 1 per 36,000 in Caucasians. </p><p>In affected members of a consanguineous kindred with OCA2, Durham-Pierre et al. (1994) identified a homozygous 2.7-kb deletion encompassing an exon of the P gene (611409.0001). The kindred was of African, Caucasian, and American Indian descent. The same deletion allele was identified in unrelated African Americans, Haitian, and Africans with OCA2, suggesting a founder effect. </p><p>Brown oculocutaneous albinism (see 203200) is also linked to the P locus, and the occurrence of both OCA2 and BOCA within the same family suggested that these disorders are allelic. Manga (1997) found that a large proportion (9/10) of BOCA subjects were compound heterozygotes with the 2.7-kb deletion of the OCA2 gene on one allele.</p><p>Lee et al. (1994) identified homozygous or compound heterozygous mutations in the OCA2 gene (see, e.g., 611409.0003-611409.0006) in individuals with oculocutaneous albinism. Lee et al. (1994) studied 7 unrelated African American patients with OCA2 and identified different abnormalities of the P gene in all 7. </p><p>Kawai et al. (2005) noted that over 50 different mutations in the OCA2 gene have been reported. </p><p>Rooryck et al. (2011) identified a 184-kb deletion in the OCA2 gene (611409.0015) as a founder mutation in 3 unrelated patients of Polish ancestry with OCA2. Sequence analysis indicated that the 2 breakpoints were located in repeat-rich regions containing numerous Alu and L1 repeats, suggesting nonhomologous end joining (NHEJ) as the molecular mechanism. The authors noted that they had found rearrangements of the OCA2 gene in more than 20% of their OCA2 patients and recommended high-resolution array CGH analysis for adequate molecular diagnosis in candidate patients. </p><p>In a mother and 3 of her children with oculocutaneous or ocular albinism, Jedlickova et al. (2023) identified biallelic mutations in the OCA2 gene, involving homozygosity or compound heterozygosity for the previously reported V443I substitution (611409.0004). Other members of the family had autosomal dominant retinal dystrophy with coloboma (see 616722). </p><p><strong><em>Normal Pigment Variation</em></strong></p><p>
|
|
Akey et al. (2001) studied the contribution of the P and MC1R (155555) genes to interindividual variation in skin pigmentation in a Tibetan population. They genotyped 3 single-nucleotide polymorphisms (SNPs) in the MC1R gene and 2 SNPs in the P gene in 184 randomly ascertained Tibetan subjects, whose skin color was measured as a quantitative trait by reflective spectroscopy. Single-locus analyses failed to demonstrate an association between any of the 5 SNPs and skin pigmentation. However, when an epistatic model was applied to the data, a significant gene-gene interaction was identified between val92 to met (155555.0002) in the MC1R gene and the IVS13-15T-C polymorphism in the P gene identified by Lee et al. (1995). </p><p>A genomewide linkage scan for eye color by Zhu et al. (2004) suggested that 74% of variation in eye color in Europeans can be attributed to a QTL linked to the OCA2 region of 15q. </p><p>Duffy et al. (2007) conducted additional genotyping to clarify the role of OCA2 locus in the inheritance of eye color and other pigmentary traits associated with skin-cancer risk in white populations. The highest association for blue/nonblue eye color (227220) was found with 3 OCA2 SNPs in intron 1, rs7495174 (T/C), rs4778241 (G/T), and rs4778138 (T/C). These 3 SNPs are in 1 major haplotype block (611409.0013), with TGT representing 78.4% of alleles. The minor population impact of the nonsynonymous coding region polymorphisms arg305-to-trp (611409.0011) and arg419-to-gln (611409.0012) associated with nonblue eyes (Rebbeck et al., 2002; Jannot et al., 2005) and the tight linkage of the major TGT haplotype within intron 1 of OCA2 with blue eye color and lighter hair and skin tones suggested that differences within the 5-prime proximal regulatory region of the OCA2 gene alter expression or mRNA transcript levels and may be responsible for these associations. </p><p>Frudakis et al. (2007) developed an iris color score for quantifying iris melanin content ('C') in silico and analyzed the OCA2 locus in 1,317 individuals, confirming 6 previously described associations and identifying another 27 SNPs strongly associated with 'C.' Using 4 discontinuous and nonoverlapping SNP sets across blocks of linkage disequilibrium, the authors examined 82 samples and found that those with matching diplotypes composed of nonoverlapping OCA2 SNPs exhibited a rate of 'C' concordance of 96.3%, which was significantly greater than that for randomly selected samples (62.6%; p less than 0.0001). Frudakis et al. (2007) concluded that OCA2 is the major human iris color gene and suggested that by using an empirical database-driven system, genotypes from a modest number of SNPs within this gene can be used to accurately predict iris melanin content from DNA. </p><p>See HERC2 (605837) for information on noncoding variants in the HERC2 gene that affect OCA2 expression and are associated with eye color.</p><p>By examining 1,570 ethnically diverse African genomes from individuals with quantified pigmentation levels, Crawford et al. (2017) identified 10 SNPs in the OCA2/HERC2 region that were highly associated with pigmentation. The SNP with the highest probability of being causal in OCA2 was rs1800404 (p = 1.6 x 10(-8)), a synonymous variant within exon 10. The ancestral rs1800404C allele, associated with dark pigmentation, is common in most Africans as well as southern and eastern Asians and Australo-Melanesians, whereas the derived T allele, associated with light pigmentation, is most common (greater than 70%) in Europeans and San. The rs1800404C variant, associated with dark pigmentation, is identical by descent in South Asian and Australo-Melanesian populations. Crawford et al. (2017) noted the extensive linkage disequilibrium among SNPs in the OCA2/HERC2 region. </p><p><strong><em>Melanoma</em></strong></p><p>
|
|
Jannot et al. (2005) genotyped 113 patients with cutaneous malignant melanoma (see 155600) and 105 controls for SNPs in the OCA2 gene. Analysis of allelic distribution showed an association between melanoma and OCA2 (p = 0.030); combination testing revealed that a combination formed by 2 SNPs, IVS13+112 and A776A (rs1800419), was most strongly associated with melanoma (nominal p = 0.001). Jannot et al. (2005) concluded that OCA2 genotype influences melanoma risk. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>History</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>The pink-eye (or pink-eyed dilution) locus in the mouse is of historic significance because the linkage of this locus with a locus for albinism by Haldane et al. (1915) was the first mammalian linkage to be discovered. The gene was subsequently demonstrated to be on mouse chromosome 7 and the molecular nature of the mutation identified (Lyon et al., 1992; Gardner et al., 1992). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>The 'pink-eyed dilution' (p) mouse has reduced pigmentation of the coat and eyes inherited as an autosomal recessive trait. Gardner et al. (1992) found that the murine transcript for the p gene was missing or altered in 6 independent mutant alleles of the p locus derived from hypopigmented mice, suggesting that disruption of this gene is responsible for the disorder. The authors noted that although hypopigmentation characterizes both Prader-Willi and Angelman syndromes, other features of these disorders are not found in the p mouse. Mice heterozygous for mutant p alleles are fully pigmented regardless of the parental origin of the mutant allele, suggesting that the mouse gene is not affected by imprinting. </p><p>Gondo et al. (1993) studied the mouse pink-eyed unstable mutation, p(un), affecting coat color, which exhibits one of the highest reported reversion frequencies of any mammalian mutation and is associated with a duplication of genomic DNA at the p locus. They showed that DNA from p(un) was distinguished from wildtype and revertant DNA by a head-to-tail tandem duplication of approximately 70 kb. No differences were detected between revertant and wildtype DNAs. Thus, the reversion in phenotype was coupled with a loss of one copy of the 70-kb duplicated segment. They commented that the mouse p locus has a human homolog in D15S12 and that duplications of this gene occur in about 6% of Prader-Willi syndrome patients (Hamabe et al., 1991). </p><p>Hagiwara et al. (2000) characterized a radiation-induced mutant allele of the mouse p locus that was associated with failure-to-thrive syndrome and diminished pigmentation. Homozygous mice showed delayed growth and died within 2 weeks of birth. They developed progressive atrioventricular heart block and significant ultrastructural changes in both cardiac and skeletal muscle cells. Hagiwara et al. (2000) determined that the mutation was associated with a chromosome 7 inversion that disrupted both the p gene and the Sox6 gene (607257). </p><p>Protas et al. (2006) generated a genomewide linkage map to allow quantitative trait analysis of evolutionarily derived morphologies in the Mexican cave tetra, a species that has, in a series of independent caves, repeatedly evolved specialized characteristics adapted to a unique and well-studied ecologic environment. They focused on the trait of albinism and discovered that it is linked to the Oca2 gene in 2 cave populations. They found different deletions in Oca2 in each population, and, using a cell-based assay, showed that both caused loss of function of the corresponding protein. Thus, the 2 cave populations evolved albinism independently, through similar mutational events. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>15 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 ALBINISM, OCULOCUTANEOUS, TYPE II</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
BROWN OCULOCUTANEOUS ALBINISM, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
OCA2, 2.7-KB DEL, EX7DEL
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1555375711,
|
|
|
|
|
|
|
|
ClinVar: RCV000001002, RCV000001003
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In affected members of a consanguineous kindred with oculocutaneous albinism type II (OCA2; 203200), Durham-Pierre et al. (1994) identified a homozygous 2.7-kb deletion encompassing an exon of the P gene. The kindred was of African, Caucasian, and American Indian descent. The same deletion allele was identified in unrelated African Americans, Haitian, and Africans with OCA2, suggesting a founder effect. </p><p>Brown oculocutaneous albinism (BOCA) is also linked to the P locus, and the occurrence of both OCA2 and BOCA within the same family suggested that these disorders are allelic. Manga (1997) found that a large proportion (9/10) of BOCA subjects were compound heterozygotes with the 2.7-kb deletion of the OCA2 gene on one allele. Manga et al. (2001) demonstrated that 10 persons with brown oculocutaneous albinism in southern Africa were heterozygous for the 2.7-kb deletion. They did not succeed in defining the second mutation but presumed that it was a milder mutation, possibly in the promoter region (downregulating expression) or in other regions of the P gene they did not screen. </p><p>By analyzing a 5-SNP haplotype of the OCA2 gene in 53 unrelated Cameroonian OCA2 patients homozygous for the 2.7-kb deletion and 48 ethnically matched controls, Aquaron et al. (2007) estimated that the mutation originated 4,100 to 5,645 years ago. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 ALBINISM, OCULOCUTANEOUS, TYPE II</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
OCA2, IVS17DS, G-T, +1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs387906240,
|
|
|
|
|
|
gnomAD: rs387906240,
|
|
|
|
|
|
ClinVar: RCV000001004, RCV001851521, RCV003323345, RCV004566666
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 7-year-old girl of northern European ancestry with a mild form of oculocutaneous albinism type II (OCA2; 203200), Lee et al. (1994) identified compound heterozygosity for 2 mutations in the OCA2 gene: a G-to-T transversion in the first nucleotide of the donor splice junction of IVS17 gene, and A481T (611409.0003). The patient's skin was fair but tanned normally, and her hair was reddish brown. Her irides were blue and showed transillumination, and the fundi appeared nonpigmented, with hypoplastic maculae. She had nystagmus and severe myopia, with corrected visual acuity of 20/200. Her parents were unrelated and had normal pigmentation, and there was no family history of albinism. Hair-bulb tyrosinase activity was normal. </p>
|
|
</span>
|
|
</div>
|
|
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|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 ALBINISM, OCULOCUTANEOUS, TYPE II</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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OCA2, ALA481THR
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<br />
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SNP: rs74653330,
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gnomAD: rs74653330,
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ClinVar: RCV000001005, RCV000251919, RCV000487934, RCV003891424
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a girl with a mild form of oculocutaneous albinism type II (OCA2; 203200), Lee et al. (1994) identified compound heterozygosity for 2 substitutions in the OCA2 gene: an ala481-to-thr (A481T) change and a splice site mutation (611409.0002). Lee et al. (1994) estimated the frequency of the A481T substitution to be 0.01 in normal Caucasian individuals. </p><p>In a cellular transfection study, Sviderskaya et al. (1997) showed that the thr481 allele had approximately 70% residual function. </p><p>Suzuki et al. (2003) found that the allele frequency of thr481 was 0.12 in normally pigmented Japanese individuals. Two individuals who were homozygous were entirely normal with respect to pigmentation of the eyes, skin, and hair. The findings suggested that the thr481 only results in the OCA2 phenotype when combined with a null or almost null mutant OCA2 allele. </p><p>Yuasa et al. (2007) stated that the A481T substitution results from a 1559G-A transition in exon 14 of the OCA2 gene. Among more than 2,615 healthy individuals from 20 African and Eurasian populations, Yuasa et al. (2007) found that the thr481 allele prevailed almost exclusively in a northeastern part of Asia. The allele frequency was highest in Buryat (0.24) in Mongolia and showed a north-south gradient. The findings suggested that thr481 allele arose in a region of low ultraviolet radiation and thereafter spread to neighboring populations. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 ALBINISM, OCULOCUTANEOUS, TYPE II</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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OCA2, VAL443ILE
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<br />
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SNP: rs121918166,
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gnomAD: rs121918166,
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ClinVar: RCV000001006, RCV000310636, RCV000477815, RCV000623104, RCV002251850, RCV003415611, RCV003466772, RCV004584136
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>In a 4-year-old boy of northern European ancestry with typical type II oculocutaneous albinism (OCA2; 203200), Lee et al. (1994) identified compound heterozygosity for 2 mutations in the OCA2 gene: a G-to-A transition, resulting in a val443-to-ile (V443I) substitution inherited from the mother, and a C-to-T transition in exon 22 resulting in a pro743-to-leu (P743L; 611409.0005) substitution inherited from the father. The patient's skin was very lightly pigmented with no apparent tanning ability, and his hair was pale golden yellow. His irides were blue and showed transillumination, and the fundi appeared nonpigmented, with hypoplastic maculae. His corrected visual acuity was 20/100, and he had nystagmus and strabismus. Chromosomal analysis demonstrated mosaicism for 46,XY and 46,XY,dup(15)(q12). The duplication, which occurred in 25% of stimulated peripheral-blood leukocytes, was interpreted as a nonpathologic chromosomal variant (Ludowese et al., 1991). Lee et al. (1994) found the same V443I substitution on the maternally derived chromosome 15 in a 7-year-old boy with typical type II oculocutaneous albinism and Prader-Willi syndrome (PWS; 176270), the latter being due to deletion of 15q11.2-q13.1 derived from the father. The paternal OCA2 gene was deleted in this child. </p><p>In a mother and 3 of her children in a Czech family with oculocutaneous or ocular albinism, Jedlickova et al. (2023) identified homozygosity or compound heterozygosity for the V443I mutation in the OCA2 gene. The mother and a daughter, who both had oculocutaneous albinism, were compound heterozygous for V443I and a large complex rearrangement in the OCA2 gene, whereas the 2 sons, who had ocular albinism, were homozygous for the V443I substitution. The authors noted that the sons had normal visual acuity with discrete fundus hypopigmentation and foveal hypoplasia, which was only revealed due to the familial investigation; they suggested that these findings supported the notion of V443I as a hypomorphic allele causing only a partial loss of function, thus accounting for the 4 homozygous individuals present in the gnomAD database (v2.1.1). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0005 ALBINISM, OCULOCUTANEOUS, TYPE II</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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OCA2, PRO743LEU
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<br />
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SNP: rs121918167,
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gnomAD: rs121918167,
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ClinVar: RCV000001007, RCV000481371, RCV000755092, RCV000762938, RCV003460401
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>For discussion of the pro743-to-val (P743V) mutation in the OCA2 gene that was found in compound heterozygous state in a patient with oculocutaneous albinism type II (OCA2; 203200) by Lee et al. (1994), see 611409.0004. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 ALBINISM, OCULOCUTANEOUS, TYPE II</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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|
|
|
OCA2, 1-BP DEL
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<br />
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|
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SNP: rs387906241,
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gnomAD: rs387906241,
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ClinVar: RCV000001008
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|
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</span>
|
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In an 8-year-old Pakistani girl with severe type II oculocutaneous albinism (OCA2; 203200), Lee et al. (1994) identified a homozygous 1-bp deletion of the first base in codon 654 of the OCA2 gene, resulting in a frameshift and premature termination of the protein at codon 662. The patient was a member of a large and highly consanguineous kindred. Her skin was virtually white, with no apparent tanning ability, and her hair was pale golden yellow. Her irides were pale blue and showed transillumination, and the optic fundi appeared nonpigmented with hypoplastic maculae. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 ALBINISM, OCULOCUTANEOUS, TYPE II</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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OCA2, ALA334VAL
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<br />
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SNP: rs121918168,
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gnomAD: rs121918168,
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ClinVar: RCV000001009, RCV001851522, RCV003466773
|
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|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a study of southern African blacks with oculocutaneous albinism type II (OCA2; 203200) who had at least 1 allele of the OCA2 gene that was not the common 2.7-kb deletion (611409.0001), Kerr et al. (2000) found 4 mutations in the OCA2 gene, 1 of which was an ala334-to-val (A334V) substitution in the second transmembrane domain of the OCA2 protein. </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
|
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</div>
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</div>
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<div>
|
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 ALBINISM, OCULOCUTANEOUS, TYPE II</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
OCA2, 122.5-KB DEL
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|
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|
|
<br />
|
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|
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ClinVar: RCV000001010
|
|
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|
|
|
</span>
|
|
</div>
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|
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|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Yi et al. (2003) found a LINE-mediated 122.5-kb deletion of the OCA2 gene as the cause of frequently occurring oculocutaneous albinism type II (OCA2; 203200) among Navajo of northeastern Arizona. The deletion removed exons 10 through 20. Although it did not disrupt the reading frame of the gene, it removed 345 of the total 838 amino acids. The 12 transmembrane domains of the wildtype protein were reduced to 5. Sequence analysis of the breakpoints and the flanking sequences showed that both breakpoints were exactly end-joined and both were found within long interspersed nucleotide elements (LINEs). However, the breakpoint LINEs were oppositely oriented, and no sequence homology between them was found at the breakpoint juncture. </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 ALBINISM, OCULOCUTANEOUS, TYPE II</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
OCA2, TRP679CYS
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|
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|
<br />
|
|
|
|
SNP: rs121918169,
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|
|
|
|
|
gnomAD: rs121918169,
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|
|
|
|
|
ClinVar: RCV000001011, RCV001093225, RCV001262139, RCV003317027, RCV005007802
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with oculocutaneous albinism type II (OCA2; 203200), King et al. (2003) found compound heterozygosity for 2 mutations in the OCA2 gene: trp679-to-cys (W679C) on the maternal allele and asn489-to-asp (N489D; 611409.0010) on the paternal allele. This patient represented an unusual pigmentation phenotype that involved red rather than yellow hair. Indeed, King et al. (2003) found a mutation in the MC1R gene (155555.0004) to be responsible for the red hair in this patient and in 5 others with OCA2 who continued to have red hair after birth. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 ALBINISM, OCULOCUTANEOUS, TYPE II</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
OCA2, ASN489ASP
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|
|
|
|
|
<br />
|
|
|
|
SNP: rs121918170,
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|
|
|
|
|
gnomAD: rs121918170,
|
|
|
|
|
|
ClinVar: RCV000001012, RCV000413429, RCV000762940, RCV003421891, RCV003466774, RCV003492280
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the asn489-to-asp (N489D) mutation in the OCA2 gene that was found in compound heterozygous state in a patient with oculocutaneous albinism type II (OCA2; 203200) by King et al. (2003), see 611409.0009. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/BROWN EYES, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
OCA2, ARG305TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1800401,
|
|
|
|
|
|
gnomAD: rs1800401,
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|
|
|
|
|
ClinVar: RCV000001013, RCV000180482, RCV000312067, RCV001522992, RCV002490287
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Using a sample of 629 normally pigmented individuals, Rebbeck et al. (2002) found that individuals carrying the OCA2 variants arg305-to-trp (R305W) or arg419-to-gln (R419Q) (611409.0012) or both were more likely to have nonblue eyes (see 227220) (P = 0.002, 0.001, and 0.003, respectively). The R305W variant was associated with brown eyes. These results suggested that the OCA2 gene may, in part, determine normal phenotypic variation in human eye color and may therefore represent an inherited biomarker of cutaneous cancer risk. </p><p>Jannot et al. (2005) replicated the association of the R305W variant in OCA2 with nonblue eye color in a French population. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
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<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
OCA2, ARG419GLN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1800407,
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|
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|
|
|
gnomAD: rs1800407,
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|
|
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ClinVar: RCV000001014, RCV000252408, RCV000397427, RCV001521859
|
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|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the arg419-to-gln (R419Q) mutation in the OCA2 gene that was found in individuals with nonblue eyes (see 227220) by Rebbeck et al. (2002), see 611409.0011. Rebbeck et al. (2002) found that the R419Q variant was associated with green/hazel eyes (see 227220). </p><p>Jannot et al. (2005) were unable to replicate the association of the R419Q variant of OCA2 with nonblue eye color in a French population. </p><p>Sturm et al. (2008) demonstrated that the OCA2 coding SNP R419Q (rs1800407) acts as a penetrance modifier of HERC2 rs12913832 (605837.0003). </p>
|
|
</span>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
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|
|
</div>
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
SKIN/HAIR/EYE PIGMENTATION 1, BLUE/BROWN EYES, INCLUDED<br />
|
|
SKIN/HAIR/EYE PIGMENTATION 1, BLOND/BROWN HAIR, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
OCA2, IVS1, HAPLOTYPE 1
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs4778138, rs4778241, rs7495174,
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|
|
|
|
|
gnomAD: rs4778138, rs4778241, rs7495174,
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|
|
|
|
|
ClinVar: RCV000001015
|
|
|
|
|
|
</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>To clarify the role of OCA2 locus in the inheritance of eye color and other pigmentary traits associated with skin-cancer risk in white populations, Duffy et al. (2007) genotyped 3,839 adolescent twins, sibs, and parents for 58 synonymous and nonsynonymous exonic SNPs and tagging SNPs at the OCA2 locus. The authors found that the highest association for blue/nonblue eye color (227220) was found with 3 OCA2 SNPs in intron 1: rs7495174, T/C; rs4778241 (formerly rs6497268), G/T; and rs4778138 (formerly 11855019), T/C. These 3 SNPs are in 1 major haplotype block, with TGT representing 78.4% of alleles. The TGT/TGT diplotype found in 62.2% of samples was the major genotype seen to modify eye color, with a frequency of 0.905 in blue or green compared with only 0.095 in brown eye color. This genotype was also at highest frequency in subjects with light brown hair and was more frequent in fair and medium skin types, consistent with the TGT haplotype acting as a recessive modifier of lighter pigmentary phenotypes. Homozygotes for rs4778138 C/C were predominantly without freckles and had lower mole counts. </p><p>In an association study of pigmentation variants using Icelandic and Dutch population samples, Sulem et al. (2007) found association of the rs7495174, rs4778241, and rs4778138 identified by Duffy et al. (2007) with blue eye color and blond hair. The A allele of rs7495174 was strongly associated with blue versus brown eyes (OR = 6.90, p = 3.0 x 10(-24)). </p>
|
|
</span>
|
|
</div>
|
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<div>
|
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<br />
|
|
</div>
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|
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|
</div>
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<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 ALBINISM, OCULOCUTANEOUS, TYPE II</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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OCA2, MET394ILE
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<br />
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SNP: rs121918171,
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gnomAD: rs121918171,
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ClinVar: RCV000001016
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 21-year-old Japanese man with subclinical oculocutaneous albinism type II (OCA2; 203200), Kawai et al. (2005) identified compound heterozygosity for 2 mutations in the OCA2 gene: a G-to-A transition, resulting in a met394-to-ile (M394I) substitution, and A481T (611409.0003). The man presented with a severe blistering sunburn on the back and upper arms after bathing in the sea for about 1 hour. He had a superficial dermal burn over 18% of the body surface and was admitted to the hospital for treatment. He was noted to have pale skin, but dark brown hair and irides. Kawai et al. (2005) noted that this patient had a subclinical form of OCA2 with pale skin and little resistance to the stress of sunburn. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0015 ALBINISM, OCULOCUTANEOUS, TYPE II</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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OCA2, 184-KB DEL
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<br />
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ClinVar: RCV000023893
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 3 unrelated patients of Polish ancestry with oculocutaneous albinism type II (OCA2; 203200), Rooryck et al. (2011) identified a 184-kB deletion in the OCA2 gene (chr15:25,793,533-25,977,380, NCBI36.1) encompassing exons 3 to 20. One patient was homozygous for the deletion, and another was compound heterozygous for the deletion and another pathogenic OCA2 mutation. A second mutation could not be identified in the third patient. Haplotype analysis indicated a founder effect. Sequence analysis showed that the 2 breakpoints were located in repeat-rich regions containing numerous Alu and L1 repeats, suggesting nonhomologous end joining as the molecular mechanism. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Brilliant (1992); Waardenburg (1961)
|
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</span>
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<div>
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<br />
|
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<strong>Interaction between the melanocortin-1 receptor and P genes contributes to inter-individual variation in skin pigmentation phenotypes in a Tibetan population.</strong>
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[Full Text: https://doi.org/10.1007/s004390100524]
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Aquaron, R., Soufir, N., Berge-Lefranc, J.-L., Badens, C., Austerlitz, F., Grandchamp, B.
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<strong>Oculocutaneous albinism type 2 (OCA2) with homozygous 2.7-kb deletion of the P gene and sickle cell disease in a Cameroonian family. Identification of a common TAG haplotype in the mutated P gene.</strong>
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Brilliant, M. H.
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<strong>The mouse pink-eyed dilution locus: a model for aspects of Prader-Willi syndrome, Angelman syndrome, and a form of hypomelanosis of Ito.</strong>
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Mammalian Genome 3: 187-191, 1992.
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<strong>Loci associated with skin pigmentation identified in African populations.</strong>
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<strong>Isolation of molecular probes associated with the chromosome 15 instability in the Prader-Willi syndrome.</strong>
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<strong>A three-single-nucleotide polymorphism haplotype in intron 1 of OCA2 explains most human eye-color variation.</strong>
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<strong>African origin of an intragenic deletion of the human P gene in tyrosinase positive oculocutaneous albinism.</strong>
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Gondo, Y., Gardner, J. M., Nakatsu, Y., Durham-Pierre, D., Deveau, S. A., Kuper, C., Brilliant, M. H.
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Proc. Nat. Acad. Sci. 90: 297-301, 1993.
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Hagiwara, N., Klewer, S. E., Samson, R. A., Erickson, D. T., Lyon, M. F., Brilliant, M. H.
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<strong>Sox6 is a candidate gene for p100H myopathy, heart block, and sudden neonatal death.</strong>
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Haldane, J. B. S., Sprunt, A. D., Haldane, N. M.
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<strong>Reduplication in mice.</strong>
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Hamabe, J., Fukushima, Y., Harada, N., Abe, K., Matsuo, N., Nagai, T., Yoshioka, A., Tonoki, H., Tsukino, R., Niikawa, N.
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Jannot, A.-S., Meziani, R., Bertrand, G., Gerard, B., Descamps, V., Archimbaud, A., Picard, C., Ollivaud, L., Basset-Seguin, N., Kerob, D., Lanternier, G., Lebbe, C., Saiag, P., Crickx, B., Clerget-Darpoux, F., Grandchamp, B., Soufir, N., Melan-Cohort.
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<strong>Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.</strong>
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Jedlickova, J., Vajter, M., Barta, T., Black, G. C. M., Perveen, R., Mares, J., Fichtl, M., Kousal, B., Dudakova, L., Liskova, P.
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<strong>MIR204 n.37C-T variant as a cause of chorioretinal dystrophy variably associated with iris coloboma, early-onset cataracts and congenital glaucoma.</strong>
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Kawai, M., Suzuki, T., Ito, S., Inagaki, K., Suzuki, N., Tomita, Y.
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<strong>A patient with subclinical oculocutaneous albinism type 2 diagnosed on getting severely sunburned.</strong>
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King, R. A., Willaert, R. K., Schmidt, R. M., Pietsch, J., Savage, S., Brott, M. J., Fryer, J. P., Summers, C. G., Oetting, W. S.
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Knoll, J. H. M., Nicholls, R. D., Magenis, R. E., Glatt, K., Graham, J. M., Jr., Kaplan, L., Lalande, M.
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Lee, S.-T., Nicholls, R. D., Bundey, S., Laxova, R., Musarella, M., Spritz, R. A.
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<strong>Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.</strong>
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[PubMed: 8302318]
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<p class="mim-text-font">
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Lee, S.-T., Nicholls, R. D., Jong, M. T. C., Fukai, K., Spritz, R. A.
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<strong>Organization and sequence of the human P gene and identification of a new family of transport proteins.</strong>
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<p class="mim-text-font">
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Lee, S.-T., Nicholls, R. D., Schnur, R. E., Guida, L. C., Lu-Kuo, J., Spinner, N. B., Zackai, E. H., Spritz, R. A.
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<strong>Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2).</strong>
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Hum. Molec. Genet. 3: 2047-2051, 1994.
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[PubMed: 7874125]
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<p class="mim-text-font">
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Ludowese, C. J., Thompson, K. J., Sekhon, G. S., Pauli, R. M.
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<strong>Absence of predictable phenotypic expression in proximal 15q duplications.</strong>
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Clin. Genet. 40: 194-201, 1991.
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[PubMed: 1773534]
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<p class="mim-text-font">
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Lyon, M. F., King, T. R., Gondo, Y., Gardner, J. M., Nakatsu, Y., Eicher, E. M., Brilliant, M. H.
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<strong>Genetic and molecular analysis of recessive alleles at the pink-eyed dilution (p) locus of the mouse.</strong>
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Proc. Nat. Acad. Sci. 89: 6968-6972, 1992.
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[PubMed: 1495987]
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[Full Text: https://doi.org/10.1073/pnas.89.15.6968]
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<p class="mim-text-font">
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Manga, P., Kromberg, J. G. R., Turner, A., Jenkins, T., Ramsay, M.
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<strong>In southern Africa, brown oculocutaneous albinism (BOCA) maps to the OCA2 locus on chromosome 15q: P-gene mutations identified.</strong>
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Am. J. Hum. Genet. 68: 782-787, 2001.
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[PubMed: 11179026]
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[Full Text: https://doi.org/10.1086/318800]
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<p class="mim-text-font">
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Manga, P.
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<strong>Identification and molecular characterisation of the genes for brown and rufous oculocutaneous albinism in southern Africa.</strong>
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Ph.D. Thesis: University of the Witwatersrand, Johannesburg 1997.
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</p>
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<li>
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<p class="mim-text-font">
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Protas, M. E., Hersey, C., Kochanek, D., Zhou, Y., Wilkens, H., Jeffery, W. R., Zon, L. I., Borowsky, R., Tabin, C. J.
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<strong>Genetic analysis of cavefish reveals molecular convergence in the evolution of albinism.</strong>
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Zhu, G., Evans, D. M., Duffy, D. L., Montgomery, G. W., Medland, S. E., Gillespie, N. A., Ewen, K. R., Jewell, M., Liew, Y. W., Hayward, N. K., Sturm, R. A., Trent, J. M., Martin, N. G.
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Marla J. F. O'Neill - updated : 10/24/2023<br>Ada Hamosh - updated : 02/13/2018<br>Cassandra L. Kniffin - updated : 4/26/2011<br>Marla J. F. O'Neill - updated : 5/29/2008<br>Marla J. F. O'Neill - updated : 1/7/2008<br>Cassandra L. Kniffin - updated : 9/11/2007
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