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Entry
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- *611153 - XPA, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPA
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- OMIM
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<p>
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<span class="h4">*611153</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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<li role="presentation">
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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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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#nomenclature">Nomenclature</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#history">History</a>
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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/611153">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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<div id="mimFloatingLinksMenu">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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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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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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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=ENSG00000136936;t=ENST00000375128" 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=7507" 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=611153" 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 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="mimDna">
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<span class="panel-title">
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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=ENSG00000136936;t=ENST00000375128" 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_000380,NM_001354975,NR_027302,NR_149091,NR_149092,NR_149093,NR_149094,XM_006717278" 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_000380" 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=611153" 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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<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=02045&isoform_id=02045_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/XPA" 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/139816,247714,286029,501115,595929,4507937,15929010,20303098,54695906,119579259,571350951,578817868,1238789407,2462626331" 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/P23025" 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=7507" 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=ENSG00000136936;t=ENST00000375128" 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=XPA" 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=XPA" 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+7507" 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/XPA" 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:7507" 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/7507" 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=chr9&hgg_gene=ENST00000375128.5&hgg_start=97654398&hgg_end=97697340&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:12814" 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:12814" 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/xpa" 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=611153[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=611153[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://gnomad.broadinstitute.org/gene/ENSG00000136936" 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.gwascentral.org/search?q=XPA" 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=XPA" 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="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=XPA&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/PA368" 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:12814" 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/FBgn0004832.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:99135" 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/XPA#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:99135" 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/7507/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://www.orthodb.org/?ncbi=7507" 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://wormbase.org/db/gene/gene?name=WBGene00006963;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040426-1205" 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://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7507" 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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<div><a href="https://reactome.org/content/query?q=XPA&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> 43477006<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>
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611153
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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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XPA, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPA
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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>
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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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XPA GENE<br />
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XPA COMPLEMENTING GENE; XPAC
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</span>
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</h4>
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</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>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=XPA" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">XPA</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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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: <a href="/geneMap/9/343?start=-3&limit=10&highlight=343">9q22.33</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr9:97654398-97697340&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'})">9:97,654,398-97,697,340</a> </span>
|
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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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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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
|
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</th>
|
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<th>
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Phenotype <br /> mapping key
|
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</th>
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</tr>
|
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</thead>
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<tbody>
|
|
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|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/9/343?start=-3&limit=10&highlight=343">
|
|
9q22.33
|
|
</a>
|
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</span>
|
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</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Xeroderma pigmentosum, group A
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/278700"> 278700 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
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|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
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</tr>
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/611153" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/611153" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<p>The XPA gene encodes a protein involved in DNA excision repair (<a href="#39" class="mim-tip-reference" title="Tanaka, K., Miura, N., Satokata, I., Miyamoto, I., Yoshida, M. C., Satoh, Y., Kondo, S., Yasui, A., Okayama, H., Okada, Y. <strong>Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain.</strong> Nature 348: 73-76, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2234061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2234061</a>] [<a href="https://doi.org/10.1038/348073a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2234061">Tanaka et al., 1990</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2234061" 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>Tanaka et al. (<a href="#40" class="mim-tip-reference" title="Tanaka, K., Satokata, I., Ogita, Z., Uchida, T., Okada, Y. <strong>Molecular cloning of a mouse DNA repair gene that complements the defect of group-A xeroderma pigmentosum.</strong> Proc. Nat. Acad. Sci. 86: 5512-5516, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2748601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2748601</a>] [<a href="https://doi.org/10.1073/pnas.86.14.5512" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2748601">1989</a>, <a href="#39" class="mim-tip-reference" title="Tanaka, K., Miura, N., Satokata, I., Miyamoto, I., Yoshida, M. C., Satoh, Y., Kondo, S., Yasui, A., Okayama, H., Okada, Y. <strong>Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain.</strong> Nature 348: 73-76, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2234061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2234061</a>] [<a href="https://doi.org/10.1038/348073a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2234061">1990</a>) cloned a mouse gene that restored UV light-resistance in 2 cell lines from patients with xeroderma pigmentosum complementation group A (XPA; <a href="/entry/278700">278700</a>). No correction was observed in relation to other XP groups. <a href="#40" class="mim-tip-reference" title="Tanaka, K., Satokata, I., Ogita, Z., Uchida, T., Okada, Y. <strong>Molecular cloning of a mouse DNA repair gene that complements the defect of group-A xeroderma pigmentosum.</strong> Proc. Nat. Acad. Sci. 86: 5512-5516, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2748601/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2748601</a>] [<a href="https://doi.org/10.1073/pnas.86.14.5512" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2748601">Tanaka et al. (1989)</a> concluded that they had succeeded in cloning the mouse homolog of the gene that is mutant in XPA. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2234061+2748601" 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="Tanaka, K., Miura, N., Satokata, I., Miyamoto, I., Yoshida, M. C., Satoh, Y., Kondo, S., Yasui, A., Okayama, H., Okada, Y. <strong>Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain.</strong> Nature 348: 73-76, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2234061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2234061</a>] [<a href="https://doi.org/10.1038/348073a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2234061">Tanaka et al. (1990)</a> cloned a cDNA corresponding to the human XPA gene. The deduced 273-amino acid protein has a calculated molecular mass of 31 kD. The human protein is 95% similar to the mouse protein and contains several alpha-helices and a zinc-finger motif, consistent with a DNA-binding protein. Two mRNAs, 1.3-1.4 kb and 1.0-1.1 kb, were detected in normal human cells. Sequence analysis identified a truncated XPA protein that could be translated from an ATG present at position 176, which retained sufficient function to partially restore the DNA repair defect in XPA cells. A 1.0-1.1-kb mouse Xpa mRNA was also identified. Expression of XPA cDNA conferred UV resistance to several cells derived from patients with xeroderma pigmentosum complementation group A, but not with other XP complementation groups. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2234061" 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="#36" class="mim-tip-reference" title="Shimamoto, T., Kohno, K., Tanaka, K., Okada, Y. <strong>Molecular cloning of human XPAC gene homologs from chicken, Xenopus laevis and Drosophila melanogaster.</strong> Biochem. Biophys. Res. Commun. 181: 1231-1237, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1764072/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1764072</a>] [<a href="https://doi.org/10.1016/0006-291x(91)92070-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1764072">Shimamoto et al. (1991)</a> compared the homologous Xpa genes in chicken, Xenopus laevis, and Drosophila melanogaster with the human gene. A high level of conservation was found in the COOH-terminal domain where the frequency of identical amino acids was about 50% with preservation of the zinc finger motif, suggesting that this portion of the gene plays an important role in the function of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1764072" 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 the yeast Saccharomyces cerevisiae, any one of 5 genes, RAD1, RAD2, RAD3, RAD4, and RAD10, causes a total defect in the incision step of excision repair of DNA damaged by ultraviolet light and an extreme sensitivity to ultraviolet light. <a href="#1" class="mim-tip-reference" title="Bankmann, M., Prakash, L., Prakash, S. <strong>Yeast RAD14 and human xeroderma pigmentosum group A DNA-repair genes encode homologous proteins.</strong> Nature 355: 555-558, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1741034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1741034</a>] [<a href="https://doi.org/10.1038/355555a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1741034">Bankmann et al. (1992)</a> reported the characterization of the yeast RAD14 gene and found that it encodes a highly hydrophilic 247-residue protein containing zinc finger motifs with high similarity to the protein encoded by the human XPA gene. Studies with a RAD14 deletion mutation indicated the absolute requirement of the gene in the DNA incision process. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1741034" 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="#24" class="mim-tip-reference" title="Miyamoto, I., Miura, N., Niwa, H., Miyazaki, J., Tanaka, K. <strong>Mutational analysis of the structure and function of the xeroderma pigmentosum group A complementing protein: identification of essential domains for nuclear localization and DNA excision repair.</strong> J. Biol. Chem. 267: 12182-12187, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1601884/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1601884</a>]" pmid="1601884">Miyamoto et al. (1992)</a> determined that the XPA gene contains 6 exons. Studies using site-directed mutagenesis showed that the nuclear localization signal of the XPA gene is located in the region encoded by exon 1, whereas exons 2 through 6 are essential for the DNA repair function. All 4 cysteines forming a zinc finger structure and also the glutamic acid cluster in the region encoded by exon 2 were found to be important for DNA repair function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1601884" 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 mouse-human hybrid cell lines, <a href="#12" class="mim-tip-reference" title="Kaur, G. P., Athwal, R. S. <strong>Complementation of a DNA repair defect in xeroderma pigmentosum cells by transfer of human chromosome 9.</strong> Proc. Nat. Acad. Sci. 86: 8872-8876, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2813428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2813428</a>] [<a href="https://doi.org/10.1073/pnas.86.22.8872" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2813428">Kaur and Athwal (1989)</a> achieved complementation of the repair defect in xeroderma pigmentosum group A cells by the transfer of human chromosome 9. <a href="#10" class="mim-tip-reference" title="Henning, K. A., Schultz, R. A., Sekhon, G. S., Friedberg, E. C. <strong>Gene complementing xeroderma pigmentosum group A cells maps to distal human chromosome 9q.</strong> Somat. Cell Molec. Genet. 16: 395-400, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2218726/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2218726</a>] [<a href="https://doi.org/10.1007/BF01232467" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2218726">Henning et al. (1990)</a> showed that microcell-mediated transfer of a single rearranged human chromosome from a human-mouse somatic cell hybrid resulted in specific complementation of defective repair and UV sensitivity in XPA cells. Cytogenetic analysis and Southern blot analysis localized the XPA gene to chromosome 9q22.2-q34.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2813428+2218726" 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>Using microcell fusion studies, <a href="#11" class="mim-tip-reference" title="Ishizaki, K., Oshimura, M., Sasaki, M. S., Nakamura, Y., Ikenaga, M. <strong>Human chromosome 9 can complement UV sensitivity of xeroderma pigmentosum group A cells.</strong> Mutat. Res. 235: 209-215, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2342508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2342508</a>] [<a href="https://doi.org/10.1016/0921-8777(90)90076-h" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2342508">Ishizaki et al. (1990)</a> demonstrated that 7 of 11 recipient XP clones became UV-resistant after transfer of chromosome 9. Southern hybridization analysis confirmed that at least part of a normal human chromosome 9 had been transferred into recipient clones. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2342508" 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="Tanaka, K., Miura, N., Satokata, I., Miyamoto, I., Yoshida, M. C., Satoh, Y., Kondo, S., Yasui, A., Okayama, H., Okada, Y. <strong>Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain.</strong> Nature 348: 73-76, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2234061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2234061</a>] [<a href="https://doi.org/10.1038/348073a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2234061">Tanaka et al. (1990)</a> localized the human and mouse XPAC genes to 9q34.1 and 4C2, respectively, by in situ hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2234061" 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="#9" class="mim-tip-reference" title="Farndon, P. A., Morris, D. J., Hardy, C., McConville, C. M., Weissenbach, J., Kilpatrick, M. W., Reis, A. <strong>Analysis of 133 meioses places the genes for nevoid basal cell carcinoma (Gorlin) syndrome and Fanconi anemia group C in a 2.6-cM interval and contributes to the fine map of 9q22.3.</strong> Genomics 23: 486-489, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7835901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7835901</a>] [<a href="https://doi.org/10.1006/geno.1994.1528" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7835901">Farndon et al. (1994)</a> stated that the XPAC gene, like the basal cell nevus syndrome gene (NBCCS; <a href="/entry/109400">109400</a>), the gene for self-healing squamous epithelioma (MSSE; <a href="/entry/132800">132800</a>), and the group C Fanconi anemia gene (FACC; <a href="/entry/227645">227645</a>), all map to 9q22.3-q31. <a href="#20" class="mim-tip-reference" title="Lench, N. J., Telford, E. A., Andersen, S. E., Moynihan, T. P., Robinson, P. A., Markham, A. F. <strong>An EST and STS-based YAC contig map of human chromosome 9q22.3.</strong> Genomics 38: 199-205, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8954802/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8954802</a>] [<a href="https://doi.org/10.1006/geno.1996.0616" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8954802">Lench et al. (1996)</a> created an EST- and STS-based YAC contig map of human 9q22.3 and showed that it contains the following genes in this order, from centromere to telomere: TMOD (<a href="/entry/190930">190930</a>), XPA, ALDOB (<a href="/entry/612724">612724</a>), BAAT (<a href="/entry/602938">602938</a>). The 4 genes are located in a syntenic region of mouse chromosome 4 and are arranged in the same order as their human counterparts on 9q. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8954802+7835901" 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="Li, L., Elledge, S. J., Peterson, C. A., Bales, E. S., Legerski, R. J. <strong>Specific association between the human DNA repair proteins XPA and ERCC1.</strong> Proc. Nat. Acad. Sci. 91: 5012-5016, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8197174/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8197174</a>] [<a href="https://doi.org/10.1073/pnas.91.11.5012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8197174">Li et al. (1994)</a> demonstrated that the XPA protein associates in a specific manner with ERCC1 (<a href="/entry/126380">126380</a>). They suggested that one possible function of XPA is the loading and perhaps the orientation of an incision complex, containing ERCC1 and other factors, to the site of DNA damage. <a href="#30" class="mim-tip-reference" title="Park, C.-H., Sancar, A. <strong>Formation of a ternary complex by human XPA, ERCC1, and ERCC4 (XPF) excision repair proteins.</strong> Proc. Nat. Acad. Sci. 91: 5017-5021, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8197175/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8197175</a>] [<a href="https://doi.org/10.1073/pnas.91.11.5017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8197175">Park and Sancar (1994)</a> concluded from their studies that XPA, ERCC1, and ERCC4 (<a href="/entry/133520">133520</a>) proteins form a ternary complex that participates in both damage recognition and incision activities. Using site-specific mutagenesis, <a href="#22" class="mim-tip-reference" title="Li, L., Peterson, C. A., Lu, X., Legerski, R. J. <strong>Mutations in XPA that prevent association with ERCC1 are defective in nucleotide excision repair.</strong> Molec. Cell. Biol. 15: 1993-1998, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7891694/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7891694</a>] [<a href="https://doi.org/10.1128/MCB.15.4.1993" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7891694">Li et al. (1995)</a> found that the association between XPA and ERCC1 is a required step in the nucleotide excision repair pathway and that the probable role of the interaction is to recruit the ERCC1 incision complex to the damaged site. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8197174+8197175+7891694" 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>Excision repair of bulky DNA adducts, such as those formed by the cancer chemotherapy agent cisplatin, appears to be mediated by an aggregate of genes, with the XPAC and ERCC1 proteins being involved in DNA damage recognition and excision. <a href="#5" class="mim-tip-reference" title="Dabholkar, M., Vionnet, J., Bostick-Bruton, F., Yu, J. J., Reed, E. <strong>Messenger RNA levels of XPAC and ERCC1 in ovarian cancer tissue correlate with response to platinum-based chemotherapy.</strong> J. Clin. Invest. 94: 703-708, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8040325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8040325</a>] [<a href="https://doi.org/10.1172/JCI117388" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8040325">Dabholkar et al. (1994)</a> assessed mRNA levels of ERCC1 and XPAC in malignant ovarian cancer tissues from 28 patients that were harvested before the administration of platinum-based chemotherapy. They found that cancer tissues from patients whose tumors were clinically resistant to therapy showed greater levels of total ERCC1 mRNA, full-length transcript of ERCC1 mRNA, and XPAC mRNA, as compared with tumor tissues from those individuals clinically sensitive to therapy. The number of patients in the 2 groups were 13 and 15, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8040325" 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="#42" class="mim-tip-reference" title="Volker, M., Mone, M. J., Karmakar, P., van Hoffen, A., Schul, W., Vermeulen, W., Hoeijmakers, J. H. J., van Driel, R., van Zeeland, A. A., Mullenders, L. H. F. <strong>Sequential assembly of the nucleotide excision repair factors in vivo.</strong> Molec. Cell 8: 213-224, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11511374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11511374</a>] [<a href="https://doi.org/10.1016/s1097-2765(01)00281-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11511374">Volker et al. (2001)</a> described the assembly of the NER complex in normal and repair-deficient (xeroderma pigmentosum) human cells by employing a novel technique of local ultraviolet irradiation combined with fluorescent antibody labeling. The damage-recognition complex XPC (<a href="/entry/613208">613208</a>)-HR23B (RAD23B; <a href="/entry/600062">600062</a>) appeared to be essential for the recruitment of all subsequent NER factors in the preincision complex, including transcription repair factor TFIIH (see <a href="/entry/189972">189972</a>). <a href="#42" class="mim-tip-reference" title="Volker, M., Mone, M. J., Karmakar, P., van Hoffen, A., Schul, W., Vermeulen, W., Hoeijmakers, J. H. J., van Driel, R., van Zeeland, A. A., Mullenders, L. H. F. <strong>Sequential assembly of the nucleotide excision repair factors in vivo.</strong> Molec. Cell 8: 213-224, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11511374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11511374</a>] [<a href="https://doi.org/10.1016/s1097-2765(01)00281-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11511374">Volker et al. (2001)</a> found that XPA associates relatively late, is required for anchoring of ERCC1-XPF, and may be essential for activation of the endonuclease activity of XPG (<a href="/entry/133530">133530</a>). These findings identified XPC as the earliest known NER factor in the reaction mechanism, gave insight into the order of subsequent NER components, provided evidence for a dual role of XPA, and supported a concept of sequential assembly of repair proteins at the site of damage rather than a preassembled repairosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11511374" 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 yeast 2-hybrid analysis, <a href="#29" class="mim-tip-reference" title="Nitta, M., Saijo, M., Kodo, N., Matsuda, T., Nakatsu, Y., Tamai, H., Tanaka, K. <strong>A novel cytoplasmic GTPase XAB1 interacts with DNA repair protein XPA.</strong> Nucleic Acids Res. 28: 4212-4218, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11058119/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11058119</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11058119[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/10.1093/nar/28.21.4212" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11058119">Nitta et al. (2000)</a> identified XAB1 (<a href="/entry/611479">611479</a>) as an XPA-binding protein. Mutation analysis showed that XAB1 specifically bound residues 30 to 34 of XPA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11058119" 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="#19" class="mim-tip-reference" title="Lembo, F., Pero, R., Angrisano, T., Vitiello, C., Iuliano, R., Bruni, C. B., Chiariotti, L. <strong>MBDin, a novel MBD2-interacting protein, relieves MBD2 repression potential and reactivates transcription from methylated promoters.</strong> Molec. Cell. Biol. 23: 1656-1665, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12588985/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12588985</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12588985[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/10.1128/MCB.23.5.1656-1665.2003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12588985">Lembo et al. (2003)</a> found that coexpression of XPA, MBD2 (<a href="/entry/603547">603547</a>), and XAB1 in 293T cells resulted in their coimmunoprecipitation, and the results suggested that XAB1 functions as a bridge between MBD2 and XPA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12588985" 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>In multiple cell lines derived from Japanese patients with XP group A, <a href="#39" class="mim-tip-reference" title="Tanaka, K., Miura, N., Satokata, I., Miyamoto, I., Yoshida, M. C., Satoh, Y., Kondo, S., Yasui, A., Okayama, H., Okada, Y. <strong>Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain.</strong> Nature 348: 73-76, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2234061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2234061</a>] [<a href="https://doi.org/10.1038/348073a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2234061">Tanaka et al. (1990)</a> identified a homozygous mutation in the XPA gene (<a href="#0001">611153.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2234061" 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="#2" class="mim-tip-reference" title="Cleaver, J. E., Charles, W. C., Thomas, G. H., McDowell, M. L. <strong>A deletion and an insertion in the alleles for the xeroderma pigmentosum (XPA) DNA-binding protein in mildly affected patients.</strong> Hum. Molec. Genet. 4: 1685-1687, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8541864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8541864</a>] [<a href="https://doi.org/10.1093/hmg/4.9.1685" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8541864">Cleaver et al. (1995)</a> reported novel deletion and insertion mutations in a family with 2 daughters previously classified as homozygous for defects in the XPA gene (<a href="#6" class="mim-tip-reference" title="Davis, B. E., Koh, H. K., Rohrer, T. E., Gonzalez, E., Cleaver, J. E. <strong>Sunlight avoidance and cancer prevention in xeroderma pigmentosum.</strong> Arch. Derm. 130: 806-808, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8002661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8002661</a>]" pmid="8002661">Davis et al., 1994</a>). One mutation was a 20-bp deletion in exon 4; the other was a 1-bp adenine insertion in exon 5 in a region normally consisting of 6 adenines. Owing to the presence of multiple adenines in affected regions of both alleles, the precise bases that were lost or inserted to generate the observed alterations were ambiguous. The 20-nucleotide deletion was found to be from the maternal allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8541864+8002661" 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 patients with XPA, Satokata et al. (<a href="#33" class="mim-tip-reference" title="Satokata, I., Tanaka, K., Miura, N., Narita, M., Mimaki, T., Satoh, Y., Kondo, S., Okada, Y. <strong>Three nonsense mutations responsible for group A xeroderma pigmentosum.</strong> Mutat. Res. 273: 193-202, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1372102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1372102</a>] [<a href="https://doi.org/10.1016/0921-8777(92)90080-m" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1372102">1992</a>, <a href="#34" class="mim-tip-reference" title="Satokata, I., Tanaka, K., Okada, Y. <strong>Molecular basis of group A xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene.</strong> Hum. Genet. 88: 603-607, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1339397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1339397</a>] [<a href="https://doi.org/10.1007/BF02265282" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1339397">1992</a>) identified homozygous or compound heterozygous mutations in the XPA gene (<a href="#0002">611153.0002</a>-<a href="#0006">611153.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1339397+1372102" 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="#3" class="mim-tip-reference" title="Cleaver, J. E., Thompson, L. H., Richardson, A. S., States, J. C. <strong>A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.</strong> Hum. Mutat. 14: 9-22, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10447254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10447254</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10447254">Cleaver et al. (1999)</a> reviewed mutations identified in the XPA gene and their population frequencies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10447254" 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="#37" class="mim-tip-reference" title="States, J. C., McDuffie, E. R., Myrand, S. P., McDowell, M., Cleaver, J. E. <strong>Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein.</strong> Hum. Mutat. 12: 103-113, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9671271/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9671271</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1998)12:2<103::AID-HUMU5>3.0.CO;2-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9671271">States et al. (1998)</a> performed a mutation analysis on XPA cell lines from 19 American and European patients. Most mutations were deletions and splice site mutations, observed previously in other XPA patients in exon 3, intron 3, or exon 4, that resulted in frameshifts within the DNA-binding region. One new mutation was a point mutation within intron 3 causing a new splice acceptor site that may compete with the original splice acceptor site. Mutations in the DNA-binding region of XPA were from patients with the more severe disease often associated with neurologic complications, whereas mutations in the C terminus of the protein, which interacts with the TFIIH transcription factor, were from patients with milder skin disease only. The rarity of naturally occurring missense mutations in the DNA-binding region of XPA suggests that amino acid changes may be sufficiently tolerated such that patients could have mild symptoms and escape detection. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9671271" 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="#18" class="mim-tip-reference" title="Lehmann, A. R., Bootsma, D., Clarkson, S. G., Cleaver, J. E., McAlpine, P. J., Tanaka, K., Thompson, L. H., Wood, R. D. <strong>Nomenclature of human DNA repair genes.</strong> Mutat. Res. 315: 41-42, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7517009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7517009</a>] [<a href="https://doi.org/10.1016/0921-8777(94)90026-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7517009">Lehmann et al. (1994)</a> proposed the following nomenclature scheme for human DNA repair genes: (1) For xeroderma pigmentosum genes, the final C from the XPAC, XPBC, etc., genes should be omitted. The final C should be retained in excision repair cross-complementing (ERCC) genes; (2) where an ERCC gene has been found to be unequivocally identical to a xeroderma pigmentosum, Cockayne syndrome, or trichothiodystrophy (TTD; <a href="/entry/601675">601675</a>) gene, the name should eventually be replaced by the corresponding XP, CS, or TTD gene. Thus, ERCC2, ERCC3, and ERCC6 would become the XPD, XPB, and CSB genes, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7517009" 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="#27" class="mim-tip-reference" title="Nakane, H., Takeuchi, S., Yuba, S., Saijo, M., Nakatsu, Y., Murai, H., Nakatsuru, Y., Ishikawa, T., Hirota, S., Kitamura, Y., Kato, Y., Tsunoda, Y., Miyauchi, H., Horio, T., Tokunaga, T., Matsunaga, T., Nikaido, O., Nishimune, Y., Okada, Y., Tanaka, K. <strong>High incidence of ultraviolet-B- or chemical-carcinogen-induced skin tumours in mice lacking the xeroderma pigmentosum group A gene.</strong> Nature 377: 165-168, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7675085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7675085</a>] [<a href="https://doi.org/10.1038/377165a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7675085">Nakane et al. (1995)</a> established Xpa-deficient mice by gene targeting of mouse embryonic stem cells. The Xpa-deficient mice showed neither obvious physical abnormalities nor pathologic alterations, but were defective in nucleotide-excision repair and highly susceptible to ultraviolet-B- and 9,10-dimethyl-1,2-benz[a]anthracene-induced skin carcinogenesis. The findings provided in vivo evidence that the Xpa protein protects mice from carcinogenesis initiated by ultraviolet or chemical carcinogen. Comparable findings were independently reported by <a href="#8" class="mim-tip-reference" title="de Vries, A., van Oostrom, C. Th. M., Hofhuis, F. M. A., Dortant, P. M., Berg, R. J. W., de Gruijl, F. R., Wester, P. W., van Kreijl, C. F., Capel, P. J. A., van Steeg, H., Verbeek, S. J. <strong>Increased susceptibility to ultraviolet-B and carcinogens of mice lacking the DNA excision repair gene XPA.</strong> Nature 377: 169-173, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7675086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7675086</a>] [<a href="https://doi.org/10.1038/377169a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7675086">de Vries et al. (1995)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7675086+7675085" 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>Mouse models of XPA have been established by gene targeting and found not to develop clearly detectable neurologic abnormalities, although they do show susceptibility to UV- and chemical carcinogen-induced skin cancer. Similarly, mice who are rendered deficient in the CSB gene (<a href="/entry/609413">609413</a>), which is deficient in group B Cockayne syndrome (<a href="/entry/133540">133540</a>), show only a mild neurologic phenotype. <a href="#26" class="mim-tip-reference" title="Murai, M., Enokido, Y., Inamura, N., Yoshino, M., Nakatsu, Y., van der Horst, G. T. J., Hoeijmakers, J. H. J., Tanaka, K., Hatanaka, H. <strong>Early postnatal ataxia and abnormal cerebellar development in mice lacking xeroderma pigmentosum group A and Cockayne syndrome group B DNA repair genes.</strong> Proc. Nat. Acad. Sci. 98: 13379-13384, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11687625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11687625</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11687625[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.231329598" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11687625">Murai et al. (2001)</a> produced mice lacking both the Xpa and the Csb genes and found growth retardation and abnormal behavior closely resembling symptoms observed in human XPA and/or CSB patients at an early postnatal stage. The cerebellum was hypoplastic and showed impaired foliation and stunted Purkinje cell dendrites. The findings suggested that Xpa and Csb have additive roles in the mouse nervous system and support a crucial role for these 2 genes in normal brain development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11687625" 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="#7" class="mim-tip-reference" title="de Boer, J., Andressoo, J. O., de Wit, J., Huijmans, J., Beems, R. B., van Steeg, H., Weeda, G., van der Horst, G. T. J., van Leeuwen, W., Themmen, A. P. N., Meradji, M., Hoeijmakers, J. H. J. <strong>Premature aging in mice deficient in DNA repair and transcription.</strong> Science 296: 1276-1279, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11950998/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11950998</a>] [<a href="https://doi.org/10.1126/science.1070174" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11950998">De Boer et al. (2002)</a> found that mice with an ERCC2 mutation (R722W; <a href="/entry/126340#0014">126340.0014</a>) had many symptoms of premature aging, including osteoporosis and kyphosis, osteosclerosis, early graying, cachexia, infertility, and reduced life span. Trichothiodystrophy (TTD; <a href="/entry/601675">601675</a>) mice carrying an additional mutation in Xpa, which enhances the DNA repair defect, showed a greatly accelerated aging phenotype, which correlated with an increased cellular sensitivity to oxidative DNA damage. <a href="#7" class="mim-tip-reference" title="de Boer, J., Andressoo, J. O., de Wit, J., Huijmans, J., Beems, R. B., van Steeg, H., Weeda, G., van der Horst, G. T. J., van Leeuwen, W., Themmen, A. P. N., Meradji, M., Hoeijmakers, J. H. J. <strong>Premature aging in mice deficient in DNA repair and transcription.</strong> Science 296: 1276-1279, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11950998/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11950998</a>] [<a href="https://doi.org/10.1126/science.1070174" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11950998">De Boer et al. (2002)</a> hypothesized that aging in TTD mice is caused by unrepaired DNA damage that compromises transcription, leading to functional inactivation of critical genes and enhanced apoptosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11950998" 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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Using hamster-human hybrid cells with various chromosomal constitution, <a href="#15" class="mim-tip-reference" title="Keijzer, W., Stefanini, M., Westerveld, A., Bootsma, D. <strong>Mapping of the XPAC gene involved in complementation of the defect in xeroderma pigmentosum group A cells. (Abstract)</strong> Cytogenet. Cell Genet. 37: 508, 1984."None>Keijzer et al. (1984)</a> excluded linkage of XP group A to the X chromosome, which had been thought to be involved (<a href="#38" class="mim-tip-reference" title="Stefanini, M., Keijzer, W., Westerveld, A., Geurts van Kessel, A., Jongkind, J. F., Bootsma, D. <strong>Complementation and mapping of genes involved in deficient DNA repair in xeroderma pigmentosum cells. (Abstract)</strong> Cytogenet. Cell Genet. 32: 321-322, 1982."None>Stefanini et al., 1982</a>), and found linkage to chromosome 1q. <a href="#14" class="mim-tip-reference" title="Keijzer, W., Stefanini, M., Bootsma, D., Verkerk, A., Geurts van Kessel, A. H. M., Jongkind, J. F., Westerveld, A. <strong>Localization of a gene involved in complementation of the defect in xeroderma pigmentosum group A cells on human chromosome 1.</strong> Exp. Cell Res. 169: 490-501, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3556430/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3556430</a>] [<a href="https://doi.org/10.1016/0014-4827(87)90209-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3556430">Keijzer et al. (1987)</a> fused human, Chinese hamster or Chinese hamster/human hybrid cytoplasts with UV-irradiated XPA cells. Unscheduled DNA synthesis in the XP nucleus showed correction of the defect immediately after fusion of human cytoplasts, whereas the Chinese hamster cytoplasts did not show this rapid increase in excision repair. The results obtained after fusion of cytoplasts isolated from a panel of 26 Chinese hamster-human hybrids showed that chromosome 1q42-qter contained genetic information necessary for the rapid correction of the XP defect. However, correction was also observed with cytoplasts from a hybrid cell made between a Chinese hamster cell and an XP cell containing human chromosome 1, suggesting that the correcting factor consisted of both human and Chinese hamster components and that the gene mapped to chromosome 1 may not be the one that is mutated in XP of the A group. In fact, the mapping to chromosome 1 was never confirmed (<a href="#4" class="mim-tip-reference" title="Cleaver, J. E. <strong>Personal Communication.</strong> San Francisco, Calif. 1/15/1993."None>Cleaver, 1993</a>) and the gene was subsequently mapped to chromosome 9. <a href="#13" class="mim-tip-reference" title="Kaur, G. P., Rinaldy, A., Lloyd, R. S., Athwal, R. S. <strong>A gene that partially complements xeroderma pigmentosum group A cells maps to human chromosome 8.</strong> Somat. Cell Molec. Genet. 18: 371-379, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1440057/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1440057</a>] [<a href="https://doi.org/10.1007/BF01235760" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1440057">Kaur et al. (1992)</a> observed partial complementation in XP group A cells by a gene that mapped to human chromosome 8. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3556430+1440057" 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 href="https://www.ncbi.nlm.nih.gov/clinvar?term=611153[MIM]" class="btn btn-default mim-tip-hint" role="button" 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>
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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> rs750218942 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs750218942;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/rs750218942?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=rs750218942" 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=rs750218942" 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=RCV000246304 OR RCV001063951 OR RCV001255518" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000246304, RCV001063951, RCV001255518" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000246304...</a>
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<p>In 19 of 20 Japanese patients with xeroderma pigmentosum complementation group A (XPA; <a href="/entry/278700">278700</a>), <a href="#39" class="mim-tip-reference" title="Tanaka, K., Miura, N., Satokata, I., Miyamoto, I., Yoshida, M. C., Satoh, Y., Kondo, S., Yasui, A., Okayama, H., Okada, Y. <strong>Analysis of a human DNA excision repair gene involved in group A xeroderma pigmentosum and containing a zinc-finger domain.</strong> Nature 348: 73-76, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2234061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2234061</a>] [<a href="https://doi.org/10.1038/348073a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2234061">Tanaka et al. (1990)</a> identified a G-to-C transversion at the 3-prime splice acceptor site of intron 3 of the XPA gene. <a href="#32" class="mim-tip-reference" title="Satokata, I., Tanaka, K., Miura, N., Miyamoto, I., Satoh, Y., Kondo, S., Okada, Y. <strong>Characterization of a splicing mutation in group A xeroderma pigmentosum.</strong> Proc. Nat. Acad. Sci. 87: 9908-9912, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1702221/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1702221</a>] [<a href="https://doi.org/10.1073/pnas.87.24.9908" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1702221">Satokata et al. (1990)</a> found that the G-to-C transversion abolished the canonical 3-prime splice site and created 2 abnormally spliced mRNA forms. The larger form was identical with normal mRNA except for a dinucleotide deletion at the 5-prime end of exon 4, which resulted in a frameshift with premature termination of translation in exon 4. The smaller form had a deletion of the entire exon 3 and the dinucleotide at the 5-prime end of exon 4. A single base substitution creates a new cleavage site for the restriction endonuclease AlwNI. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1702221+2234061" 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>Using the AlwNI RFLP, <a href="#32" class="mim-tip-reference" title="Satokata, I., Tanaka, K., Miura, N., Miyamoto, I., Satoh, Y., Kondo, S., Okada, Y. <strong>Characterization of a splicing mutation in group A xeroderma pigmentosum.</strong> Proc. Nat. Acad. Sci. 87: 9908-9912, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1702221/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1702221</a>] [<a href="https://doi.org/10.1073/pnas.87.24.9908" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1702221">Satokata et al. (1990)</a> found that 16 of 21 unrelated Japanese patients with XP were homozygous and 4 were heterozygous for this mutation. However, 11 Caucasians and 2 blacks with group A XP did not have this mutant allele. <a href="#17" class="mim-tip-reference" title="Kore-eda, S., Tanaka, T., Moriwaki, S., Nishigori, C., Imamura, S. <strong>A case of xeroderma pigmentosum group A diagnosed with a polymerase chain reaction (PCR) technique: usefulness of PCR in the detection of point mutation in a patient with a hereditary disease.</strong> Arch. Derm. 128: 971-974, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1352672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1352672</a>]" pmid="1352672">Kore-eda et al. (1992)</a> demonstrated the usefulness of the polymerase chain reaction (PCR) followed by search for the AlwNI RFLP in the diagnosis of XPA. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1702221+1352672" 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="#2" class="mim-tip-reference" title="Cleaver, J. E., Charles, W. C., Thomas, G. H., McDowell, M. L. <strong>A deletion and an insertion in the alleles for the xeroderma pigmentosum (XPA) DNA-binding protein in mildly affected patients.</strong> Hum. Molec. Genet. 4: 1685-1687, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8541864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8541864</a>] [<a href="https://doi.org/10.1093/hmg/4.9.1685" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8541864">Cleaver et al. (1995)</a> stated that homozygosity for the G-to-C transversion at the 3-prime acceptor site of intron III/exon IV of the XPA gene represents 80 to 90% of Japanese patients with XPA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8541864" 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="#23" class="mim-tip-reference" title="Maeda, T., Sato, K., Minami, H., Taguchi, H., Yoshikawa, K. <strong>Chronological difference in walking impairment among Japanese group A xeroderma pigmentosum (XP-A) patients with various combinations of mutation sites.</strong> Clin. Genet. 48: 225-231, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8825598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8825598</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1995.tb04094.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8825598">Maeda et al. (1995)</a> reported that patients who were homozygous for the common splice site mutation in intron 3 could walk unaided until 7-16 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8825598" 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> rs104894131 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894131;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/rs104894131?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=rs104894131" 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=rs104894131" 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=RCV000001048 OR RCV005055500" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001048, RCV005055500" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001048...</a>
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<p>In a cell line derived from a patient with xeroderma pigmentosum complementation group A (XPA; <a href="/entry/278700">278700</a>), <a href="#34" class="mim-tip-reference" title="Satokata, I., Tanaka, K., Okada, Y. <strong>Molecular basis of group A xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene.</strong> Hum. Genet. 88: 603-607, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1339397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1339397</a>] [<a href="https://doi.org/10.1007/BF02265282" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1339397">Satokata et al. (1992)</a> found compound heterozygosity for 2 mutations in the XPA gene: a 323G-T transversion resulting in a cys108-to-phe (C108F) substitution that disrupted a putative zinc finger domain, and a 5-bp deletion (<a href="#0003">611153.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1339397" 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> rs1200172747 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1200172747;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/rs1200172747?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=rs1200172747" 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=rs1200172747" 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=RCV000001049 OR RCV000780797 OR RCV001057886" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001049, RCV000780797, RCV001057886" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001049...</a>
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<p>In a cell line derived from a patient with xeroderma pigmentosum complementation group A (XPA; <a href="/entry/278700">278700</a>), <a href="#34" class="mim-tip-reference" title="Satokata, I., Tanaka, K., Okada, Y. <strong>Molecular basis of group A xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene.</strong> Hum. Genet. 88: 603-607, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1339397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1339397</a>] [<a href="https://doi.org/10.1007/BF02265282" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1339397">Satokata et al. (1992)</a> <a href="#34" class="mim-tip-reference" title="Satokata, I., Tanaka, K., Okada, Y. <strong>Molecular basis of group A xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene.</strong> Hum. Genet. 88: 603-607, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1339397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1339397</a>] [<a href="https://doi.org/10.1007/BF02265282" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1339397">Satokata et al. (1992)</a> found compound heterozygosity for 2 mutations in the XPA gene: a 5-bp deletion causing a frameshift and premature termination, and C108F (<a href="#0002">611153.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1339397" 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> rs104894132 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894132;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/rs104894132?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=rs104894132" 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=rs104894132" 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=RCV000001050 OR RCV000781924 OR RCV000815514" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001050, RCV000781924, RCV000815514" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001050...</a>
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<p><a href="#33" class="mim-tip-reference" title="Satokata, I., Tanaka, K., Miura, N., Narita, M., Mimaki, T., Satoh, Y., Kondo, S., Okada, Y. <strong>Three nonsense mutations responsible for group A xeroderma pigmentosum.</strong> Mutat. Res. 273: 193-202, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1372102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1372102</a>] [<a href="https://doi.org/10.1016/0921-8777(92)90080-m" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1372102">Satokata et al. (1992)</a> described a C-to-T transition in exon 6 of the XPA gene, resulting in an arg228-to-ter (R228X) substitution, as a cause of xeroderma pigmentosum complementation group A (XPA; <a href="/entry/278700">278700</a>). The mutation created a new cleavage site for the restriction endonuclease HphI. Of 21 unrelated XPA patients examined, 1 was homozygous for this mutation and 3 were compound heterozygotes for this mutation and a splice site mutation in intron 3 (<a href="#0001">611153.0001</a>). The homozygous patient was atypical with mild skin symptoms and minimal neurologic abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1372102" 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>Xeroderma pigmentosum patients in Tunisia who belong to the genetic complementation group A have milder skin symptoms than do Japanese XPA patients. <a href="#28" class="mim-tip-reference" title="Nishigori, C., Zghal, M., Yagi, T., Imamura, S., Komoun, M. R., Takebe, H. <strong>High prevalence of the point mutation in exon 6 of the xeroderma pigmentosum group A-complementing (XPAC) gene in xeroderma pigmentosum group A patients in Tunisia.</strong> Am. J. Hum. Genet. 53: 1001-1006, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8105686/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8105686</a>]" pmid="8105686">Nishigori et al. (1993)</a> found that 6 of 7 Tunisian XPA patients had the R228X mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8105686" 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="#23" class="mim-tip-reference" title="Maeda, T., Sato, K., Minami, H., Taguchi, H., Yoshikawa, K. <strong>Chronological difference in walking impairment among Japanese group A xeroderma pigmentosum (XP-A) patients with various combinations of mutation sites.</strong> Clin. Genet. 48: 225-231, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8825598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8825598</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1995.tb04094.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8825598">Maeda et al. (1995)</a> reported that a patient who was homozygous for the R228X mutation could walk unaided without any difficulty until the age of 21 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8825598" 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> rs104894133 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894133;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/rs104894133?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=rs104894133" 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=rs104894133" 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=RCV000001051 OR RCV000657642 OR RCV001420782" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001051, RCV000657642, RCV001420782" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001051...</a>
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<p>In a Palestinian patient with severe xeroderma pigmentosum complementation group A (XPA; <a href="/entry/278700">278700</a>), <a href="#33" class="mim-tip-reference" title="Satokata, I., Tanaka, K., Miura, N., Narita, M., Mimaki, T., Satoh, Y., Kondo, S., Okada, Y. <strong>Three nonsense mutations responsible for group A xeroderma pigmentosum.</strong> Mutat. Res. 273: 193-202, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1372102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1372102</a>] [<a href="https://doi.org/10.1016/0921-8777(92)90080-m" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1372102">Satokata et al. (1992)</a> identified homozygosity for a nucleotide transition in the XPA gene, resulting in an arg207-to-ter (R207X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1372102" 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> rs104894134 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs104894134;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/rs104894134?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=rs104894134" 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=rs104894134" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 unrelated Japanese patients with severe xeroderma pigmentosum complementation group A (XPA; <a href="/entry/278700">278700</a>), <a href="#33" class="mim-tip-reference" title="Satokata, I., Tanaka, K., Miura, N., Narita, M., Mimaki, T., Satoh, Y., Kondo, S., Okada, Y. <strong>Three nonsense mutations responsible for group A xeroderma pigmentosum.</strong> Mutat. Res. 273: 193-202, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1372102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1372102</a>] [<a href="https://doi.org/10.1016/0921-8777(92)90080-m" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1372102">Satokata et al. (1992)</a> identified a T-to-A transversion in the XPA gene, resulting in a tyr116-to-ter (Y116X) substitution. One patient was compound heterozygous for this mutation and for the splice site mutation in intron 3 (<a href="#0001">611153.0001</a>), and the other patient was heterozygous for this mutation and homozygous for the splice site mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1372102" 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="#23" class="mim-tip-reference" title="Maeda, T., Sato, K., Minami, H., Taguchi, H., Yoshikawa, K. <strong>Chronological difference in walking impairment among Japanese group A xeroderma pigmentosum (XP-A) patients with various combinations of mutation sites.</strong> Clin. Genet. 48: 225-231, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8825598/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8825598</a>] [<a href="https://doi.org/10.1111/j.1399-0004.1995.tb04094.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8825598">Maeda et al. (1995)</a> reported that a patient who was homozygous for the Y116X mutation had never walked unaided. This was in contrast to the finding in patients homozygous for the common splice site mutation in intron 3 who could walk unaided until 7-16 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8825598" 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>.0007 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A</strong>
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XPA, IVS1DS, T-G, +2
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1587755557 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1587755557;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=rs1587755557" 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=rs1587755557" 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=RCV000001053" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000001053" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000001053</a>
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<p>In a Japanese patient with xeroderma pigmentosum complementation group A (XPA; <a href="/entry/278700">278700</a>), <a href="#41" class="mim-tip-reference" title="Tanioka, M., Budiyant, A., Ueda, T., Nagano, T., Ichihashi, M., Miyachi, Y., Nichigori, C. <strong>A novel XPA gene mutation and its functional analysis in a Japanese patient with xeroderma pigmentosum group A.</strong> J. Invest. Derm. 125: 244-246, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16098033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16098033</a>] [<a href="https://doi.org/10.1111/j.0022-202X.2005.23783.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16098033">Tanioka et al. (2005)</a> identified compound heterozygosity for 2 mutations in the XPA gene: a T-to-G transversion in intron 1, resulting in a splice site defect, and the common IVS3 splice site mutation (<a href="#0001">611153.0001</a>). The intron 1 mutation resulted in 2 different mRNA transcripts that were both predicted to cause frameshift and premature termination. XPA protein was not detected in patient cells, and UV-induced unscheduled DNA synthesis was 4.75% of normal. The patient had photosensitivity but had not developed neurologic involvement by age 6 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16098033" 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>See Also:</strong>
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<a href="#Keijzer1982" class="mim-tip-reference" title="Keijzer, W., Verkerk, A., Bootsma, D. <strong>Phenotypic correction of the defect in xeroderma pigmentosum cells after fusion with isolated cytoplasts.</strong> Exp. Cell Res. 140: 119-125, 1982.">Keijzer et al. (1982)</a>; <a href="#Mori1993" class="mim-tip-reference" title="Mori, T., Rinaldy, T. L., Athwal, R. S., Kaur, G. P., Nikaido, O., Lloyd, R. S., Rinaldy, A. <strong>A xeroderma pigmentosum complementation group A related gene: confirmation using monoclonal antibodies against the cyclobutane dimer and (6-4) photoproduct.</strong> Mutat. Res. 293: 143-150, 1993.">Mori et al. (1993)</a>; <a href="#Rinaldy1988" class="mim-tip-reference" title="Rinaldy, A., Dodson, M. L., Darling, T. L., Lloyd, R. S. <strong>Gene cloning using cDNA libraries in a differential competition hybridization strategy: application to cloning XP-A related genes.</strong> DNA 7: 563-570, 1988.">Rinaldy et al. (1988)</a>; <a href="#Schultz1985" class="mim-tip-reference" title="Schultz, R. A., Barbis, D. P., Friedberg, E. C. <strong>Studies on gene transfer and reversion to UV resistance in xeroderma pigmentosum cells.</strong> Somat. Cell Molec. Genet. 11: 617-624, 1985.">Schultz et al. (1985)</a>
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<strong>REFERENCES</strong>
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<a id="Bankmann1992" class="mim-anchor"></a>
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Bankmann, M., Prakash, L., Prakash, S.
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<strong>Yeast RAD14 and human xeroderma pigmentosum group A DNA-repair genes encode homologous proteins.</strong>
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Nature 355: 555-558, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1741034/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1741034</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1741034" 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/10.1038/355555a0" target="_blank">Full Text</a>]
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<a id="Cleaver1995" class="mim-anchor"></a>
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Cleaver, J. E., Charles, W. C., Thomas, G. H., McDowell, M. L.
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<strong>A deletion and an insertion in the alleles for the xeroderma pigmentosum (XPA) DNA-binding protein in mildly affected patients.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8541864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8541864</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8541864" 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/10.1093/hmg/4.9.1685" target="_blank">Full Text</a>]
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<a id="Cleaver1999" class="mim-anchor"></a>
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Cleaver, J. E., Thompson, L. H., Richardson, A. S., States, J. C.
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<strong>A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.</strong>
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Hum. Mutat. 14: 9-22, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10447254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10447254</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10447254" 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/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6" target="_blank">Full Text</a>]
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<a id="Cleaver1993" class="mim-anchor"></a>
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Cleaver, J. E.
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<strong>Personal Communication.</strong>
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San Francisco, Calif. 1/15/1993.
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<a id="Dabholkar1994" class="mim-anchor"></a>
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Dabholkar, M., Vionnet, J., Bostick-Bruton, F., Yu, J. J., Reed, E.
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<strong>Messenger RNA levels of XPAC and ERCC1 in ovarian cancer tissue correlate with response to platinum-based chemotherapy.</strong>
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J. Clin. Invest. 94: 703-708, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8040325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8040325</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8040325" 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/10.1172/JCI117388" target="_blank">Full Text</a>]
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<a id="Davis1994" class="mim-anchor"></a>
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Davis, B. E., Koh, H. K., Rohrer, T. E., Gonzalez, E., Cleaver, J. E.
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<strong>Sunlight avoidance and cancer prevention in xeroderma pigmentosum.</strong>
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Arch. Derm. 130: 806-808, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8002661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8002661</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8002661" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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de Boer, J., Andressoo, J. O., de Wit, J., Huijmans, J., Beems, R. B., van Steeg, H., Weeda, G., van der Horst, G. T. J., van Leeuwen, W., Themmen, A. P. N., Meradji, M., Hoeijmakers, J. H. J.
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[<a href="https://doi.org/10.1126/science.1070174" target="_blank">Full Text</a>]
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<a id="de Vries1995" class="mim-anchor"></a>
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de Vries, A., van Oostrom, C. Th. M., Hofhuis, F. M. A., Dortant, P. M., Berg, R. J. W., de Gruijl, F. R., Wester, P. W., van Kreijl, C. F., Capel, P. J. A., van Steeg, H., Verbeek, S. J.
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Nature 377: 169-173, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7675086/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7675086</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7675086" 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/10.1038/377169a0" target="_blank">Full Text</a>]
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<a id="Farndon1994" class="mim-anchor"></a>
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Farndon, P. A., Morris, D. J., Hardy, C., McConville, C. M., Weissenbach, J., Kilpatrick, M. W., Reis, A.
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<strong>Analysis of 133 meioses places the genes for nevoid basal cell carcinoma (Gorlin) syndrome and Fanconi anemia group C in a 2.6-cM interval and contributes to the fine map of 9q22.3.</strong>
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Genomics 23: 486-489, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7835901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7835901</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7835901" 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/10.1006/geno.1994.1528" target="_blank">Full Text</a>]
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<a id="Henning1990" class="mim-anchor"></a>
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Henning, K. A., Schultz, R. A., Sekhon, G. S., Friedberg, E. C.
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<strong>Gene complementing xeroderma pigmentosum group A cells maps to distal human chromosome 9q.</strong>
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Somat. Cell Molec. Genet. 16: 395-400, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2218726/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2218726</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2218726" 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/BF01232467" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0921-8777(90)90076-h" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.86.22.8872" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF01235760" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0014-4827(82)90163-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1128/MCB.15.4.1993" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/nar/28.21.4212" target="_blank">Full Text</a>]
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<strong>Formation of a ternary complex by human XPA, ERCC1, and ERCC4 (XPF) excision repair proteins.</strong>
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[<a href="https://doi.org/10.1073/pnas.91.11.5017" target="_blank">Full Text</a>]
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<a id="Rinaldy1988" class="mim-anchor"></a>
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<p class="mim-text-font">
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[<a href="https://doi.org/10.1089/dna.1.1988.7.563" target="_blank">Full Text</a>]
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<a id="Satokata1990" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1073/pnas.87.24.9908" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0921-8777(92)90080-m" target="_blank">Full Text</a>]
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<a id="Satokata1992" class="mim-anchor"></a>
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Satokata, I., Tanaka, K., Okada, Y.
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<strong>Molecular basis of group A xeroderma pigmentosum: a missense mutation and two deletions located in a zinc finger consensus sequence of the XPAC gene.</strong>
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Hum. Genet. 88: 603-607, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1339397/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1339397</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1339397" 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/BF02265282" target="_blank">Full Text</a>]
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Schultz, R. A., Barbis, D. P., Friedberg, E. C.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3000003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3000003</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3000003" 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/BF01534726" target="_blank">Full Text</a>]
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Shimamoto, T., Kohno, K., Tanaka, K., Okada, Y.
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<strong>Molecular cloning of human XPAC gene homologs from chicken, Xenopus laevis and Drosophila melanogaster.</strong>
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[<a href="https://doi.org/10.1016/0006-291x(91)92070-z" target="_blank">Full Text</a>]
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<a id="States1998" class="mim-anchor"></a>
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States, J. C., McDuffie, E. R., Myrand, S. P., McDowell, M., Cleaver, J. E.
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<strong>Distribution of mutations in the human xeroderma pigmentosum group A gene and their relationships to the functional regions of the DNA damage recognition protein.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9671271/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9671271</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9671271" 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/(SICI)1098-1004(1998)12:2<103::AID-HUMU5>3.0.CO;2-6" target="_blank">Full Text</a>]
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Tanaka, K., Miura, N., Satokata, I., Miyamoto, I., Yoshida, M. C., Satoh, Y., Kondo, S., Yasui, A., Okayama, H., Okada, Y.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2234061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2234061</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2234061" 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/10.1038/348073a0" target="_blank">Full Text</a>]
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Tanaka, K., Satokata, I., Ogita, Z., Uchida, T., Okada, Y.
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<strong>Molecular cloning of a mouse DNA repair gene that complements the defect of group-A xeroderma pigmentosum.</strong>
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[<a href="https://doi.org/10.1073/pnas.86.14.5512" target="_blank">Full Text</a>]
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Tanioka, M., Budiyant, A., Ueda, T., Nagano, T., Ichihashi, M., Miyachi, Y., Nichigori, C.
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<strong>A novel XPA gene mutation and its functional analysis in a Japanese patient with xeroderma pigmentosum group A.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16098033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16098033</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16098033" 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/j.0022-202X.2005.23783.x" target="_blank">Full Text</a>]
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Volker, M., Mone, M. J., Karmakar, P., van Hoffen, A., Schul, W., Vermeulen, W., Hoeijmakers, J. H. J., van Driel, R., van Zeeland, A. A., Mullenders, L. H. F.
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<strong>Sequential assembly of the nucleotide excision repair factors in vivo.</strong>
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Molec. Cell 8: 213-224, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11511374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11511374</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11511374" 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/s1097-2765(01)00281-7" target="_blank">Full Text</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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Cassandra L. Kniffin - updated : 10/1/2007
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Patricia A. Hartz - updated : 10/1/2007
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Cassandra L. Kniffin : 6/29/2007
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carol : 03/15/2021<br>alopez : 10/05/2016<br>mcolton : 06/03/2015<br>carol : 9/12/2013<br>carol : 1/12/2010<br>carol : 4/14/2009<br>wwang : 10/9/2007<br>ckniffin : 10/1/2007<br>mgross : 10/1/2007<br>carol : 7/12/2007<br>carol : 7/12/2007<br>ckniffin : 7/6/2007
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</span>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 611153
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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XPA, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPA
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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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<p>
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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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XPA GENE<br />
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XPA COMPLEMENTING GENE; XPAC
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</span>
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</h4>
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</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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: XPA</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 43477006;
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</span>
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</p>
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<p>
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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: 9q22.33
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Genomic coordinates <span class="small">(GRCh38)</span> : 9:97,654,398-97,697,340 </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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<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>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<td rowspan="1">
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<span class="mim-font">
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9q22.33
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</span>
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</td>
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<td>
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<span class="mim-font">
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Xeroderma pigmentosum, group A
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</td>
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<td>
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<span class="mim-font">
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278700
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</tr>
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</tbody>
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</table>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The XPA gene encodes a protein involved in DNA excision repair (Tanaka et al., 1990). </p>
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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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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Tanaka et al. (1989, 1990) cloned a mouse gene that restored UV light-resistance in 2 cell lines from patients with xeroderma pigmentosum complementation group A (XPA; 278700). No correction was observed in relation to other XP groups. Tanaka et al. (1989) concluded that they had succeeded in cloning the mouse homolog of the gene that is mutant in XPA. </p><p>Tanaka et al. (1990) cloned a cDNA corresponding to the human XPA gene. The deduced 273-amino acid protein has a calculated molecular mass of 31 kD. The human protein is 95% similar to the mouse protein and contains several alpha-helices and a zinc-finger motif, consistent with a DNA-binding protein. Two mRNAs, 1.3-1.4 kb and 1.0-1.1 kb, were detected in normal human cells. Sequence analysis identified a truncated XPA protein that could be translated from an ATG present at position 176, which retained sufficient function to partially restore the DNA repair defect in XPA cells. A 1.0-1.1-kb mouse Xpa mRNA was also identified. Expression of XPA cDNA conferred UV resistance to several cells derived from patients with xeroderma pigmentosum complementation group A, but not with other XP complementation groups. </p><p>Shimamoto et al. (1991) compared the homologous Xpa genes in chicken, Xenopus laevis, and Drosophila melanogaster with the human gene. A high level of conservation was found in the COOH-terminal domain where the frequency of identical amino acids was about 50% with preservation of the zinc finger motif, suggesting that this portion of the gene plays an important role in the function of the protein. </p><p>In the yeast Saccharomyces cerevisiae, any one of 5 genes, RAD1, RAD2, RAD3, RAD4, and RAD10, causes a total defect in the incision step of excision repair of DNA damaged by ultraviolet light and an extreme sensitivity to ultraviolet light. Bankmann et al. (1992) reported the characterization of the yeast RAD14 gene and found that it encodes a highly hydrophilic 247-residue protein containing zinc finger motifs with high similarity to the protein encoded by the human XPA gene. Studies with a RAD14 deletion mutation indicated the absolute requirement of the gene in the DNA incision process. </p>
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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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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Miyamoto et al. (1992) determined that the XPA gene contains 6 exons. Studies using site-directed mutagenesis showed that the nuclear localization signal of the XPA gene is located in the region encoded by exon 1, whereas exons 2 through 6 are essential for the DNA repair function. All 4 cysteines forming a zinc finger structure and also the glutamic acid cluster in the region encoded by exon 2 were found to be important for DNA repair function. </p>
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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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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using mouse-human hybrid cell lines, Kaur and Athwal (1989) achieved complementation of the repair defect in xeroderma pigmentosum group A cells by the transfer of human chromosome 9. Henning et al. (1990) showed that microcell-mediated transfer of a single rearranged human chromosome from a human-mouse somatic cell hybrid resulted in specific complementation of defective repair and UV sensitivity in XPA cells. Cytogenetic analysis and Southern blot analysis localized the XPA gene to chromosome 9q22.2-q34.3. </p><p>Using microcell fusion studies, Ishizaki et al. (1990) demonstrated that 7 of 11 recipient XP clones became UV-resistant after transfer of chromosome 9. Southern hybridization analysis confirmed that at least part of a normal human chromosome 9 had been transferred into recipient clones. </p><p>Tanaka et al. (1990) localized the human and mouse XPAC genes to 9q34.1 and 4C2, respectively, by in situ hybridization. </p><p>Farndon et al. (1994) stated that the XPAC gene, like the basal cell nevus syndrome gene (NBCCS; 109400), the gene for self-healing squamous epithelioma (MSSE; 132800), and the group C Fanconi anemia gene (FACC; 227645), all map to 9q22.3-q31. Lench et al. (1996) created an EST- and STS-based YAC contig map of human 9q22.3 and showed that it contains the following genes in this order, from centromere to telomere: TMOD (190930), XPA, ALDOB (612724), BAAT (602938). The 4 genes are located in a syntenic region of mouse chromosome 4 and are arranged in the same order as their human counterparts on 9q. </p>
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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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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Li et al. (1994) demonstrated that the XPA protein associates in a specific manner with ERCC1 (126380). They suggested that one possible function of XPA is the loading and perhaps the orientation of an incision complex, containing ERCC1 and other factors, to the site of DNA damage. Park and Sancar (1994) concluded from their studies that XPA, ERCC1, and ERCC4 (133520) proteins form a ternary complex that participates in both damage recognition and incision activities. Using site-specific mutagenesis, Li et al. (1995) found that the association between XPA and ERCC1 is a required step in the nucleotide excision repair pathway and that the probable role of the interaction is to recruit the ERCC1 incision complex to the damaged site. </p><p>Excision repair of bulky DNA adducts, such as those formed by the cancer chemotherapy agent cisplatin, appears to be mediated by an aggregate of genes, with the XPAC and ERCC1 proteins being involved in DNA damage recognition and excision. Dabholkar et al. (1994) assessed mRNA levels of ERCC1 and XPAC in malignant ovarian cancer tissues from 28 patients that were harvested before the administration of platinum-based chemotherapy. They found that cancer tissues from patients whose tumors were clinically resistant to therapy showed greater levels of total ERCC1 mRNA, full-length transcript of ERCC1 mRNA, and XPAC mRNA, as compared with tumor tissues from those individuals clinically sensitive to therapy. The number of patients in the 2 groups were 13 and 15, respectively. </p><p>Volker et al. (2001) described the assembly of the NER complex in normal and repair-deficient (xeroderma pigmentosum) human cells by employing a novel technique of local ultraviolet irradiation combined with fluorescent antibody labeling. The damage-recognition complex XPC (613208)-HR23B (RAD23B; 600062) appeared to be essential for the recruitment of all subsequent NER factors in the preincision complex, including transcription repair factor TFIIH (see 189972). Volker et al. (2001) found that XPA associates relatively late, is required for anchoring of ERCC1-XPF, and may be essential for activation of the endonuclease activity of XPG (133530). These findings identified XPC as the earliest known NER factor in the reaction mechanism, gave insight into the order of subsequent NER components, provided evidence for a dual role of XPA, and supported a concept of sequential assembly of repair proteins at the site of damage rather than a preassembled repairosome. </p><p>By yeast 2-hybrid analysis, Nitta et al. (2000) identified XAB1 (611479) as an XPA-binding protein. Mutation analysis showed that XAB1 specifically bound residues 30 to 34 of XPA. </p><p>Lembo et al. (2003) found that coexpression of XPA, MBD2 (603547), and XAB1 in 293T cells resulted in their coimmunoprecipitation, and the results suggested that XAB1 functions as a bridge between MBD2 and XPA. </p>
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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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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In multiple cell lines derived from Japanese patients with XP group A, Tanaka et al. (1990) identified a homozygous mutation in the XPA gene (611153.0001). </p><p>Cleaver et al. (1995) reported novel deletion and insertion mutations in a family with 2 daughters previously classified as homozygous for defects in the XPA gene (Davis et al., 1994). One mutation was a 20-bp deletion in exon 4; the other was a 1-bp adenine insertion in exon 5 in a region normally consisting of 6 adenines. Owing to the presence of multiple adenines in affected regions of both alleles, the precise bases that were lost or inserted to generate the observed alterations were ambiguous. The 20-nucleotide deletion was found to be from the maternal allele. </p><p>In patients with XPA, Satokata et al. (1992, 1992) identified homozygous or compound heterozygous mutations in the XPA gene (611153.0002-611153.0006). </p><p>Cleaver et al. (1999) reviewed mutations identified in the XPA gene and their population frequencies. </p>
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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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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>States et al. (1998) performed a mutation analysis on XPA cell lines from 19 American and European patients. Most mutations were deletions and splice site mutations, observed previously in other XPA patients in exon 3, intron 3, or exon 4, that resulted in frameshifts within the DNA-binding region. One new mutation was a point mutation within intron 3 causing a new splice acceptor site that may compete with the original splice acceptor site. Mutations in the DNA-binding region of XPA were from patients with the more severe disease often associated with neurologic complications, whereas mutations in the C terminus of the protein, which interacts with the TFIIH transcription factor, were from patients with milder skin disease only. The rarity of naturally occurring missense mutations in the DNA-binding region of XPA suggests that amino acid changes may be sufficiently tolerated such that patients could have mild symptoms and escape detection. </p>
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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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<h4>
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<span class="mim-font">
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<strong>Nomenclature</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Lehmann et al. (1994) proposed the following nomenclature scheme for human DNA repair genes: (1) For xeroderma pigmentosum genes, the final C from the XPAC, XPBC, etc., genes should be omitted. The final C should be retained in excision repair cross-complementing (ERCC) genes; (2) where an ERCC gene has been found to be unequivocally identical to a xeroderma pigmentosum, Cockayne syndrome, or trichothiodystrophy (TTD; 601675) gene, the name should eventually be replaced by the corresponding XP, CS, or TTD gene. Thus, ERCC2, ERCC3, and ERCC6 would become the XPD, XPB, and CSB genes, respectively. </p>
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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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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Nakane et al. (1995) established Xpa-deficient mice by gene targeting of mouse embryonic stem cells. The Xpa-deficient mice showed neither obvious physical abnormalities nor pathologic alterations, but were defective in nucleotide-excision repair and highly susceptible to ultraviolet-B- and 9,10-dimethyl-1,2-benz[a]anthracene-induced skin carcinogenesis. The findings provided in vivo evidence that the Xpa protein protects mice from carcinogenesis initiated by ultraviolet or chemical carcinogen. Comparable findings were independently reported by de Vries et al. (1995). </p><p>Mouse models of XPA have been established by gene targeting and found not to develop clearly detectable neurologic abnormalities, although they do show susceptibility to UV- and chemical carcinogen-induced skin cancer. Similarly, mice who are rendered deficient in the CSB gene (609413), which is deficient in group B Cockayne syndrome (133540), show only a mild neurologic phenotype. Murai et al. (2001) produced mice lacking both the Xpa and the Csb genes and found growth retardation and abnormal behavior closely resembling symptoms observed in human XPA and/or CSB patients at an early postnatal stage. The cerebellum was hypoplastic and showed impaired foliation and stunted Purkinje cell dendrites. The findings suggested that Xpa and Csb have additive roles in the mouse nervous system and support a crucial role for these 2 genes in normal brain development. </p><p>De Boer et al. (2002) found that mice with an ERCC2 mutation (R722W; 126340.0014) had many symptoms of premature aging, including osteoporosis and kyphosis, osteosclerosis, early graying, cachexia, infertility, and reduced life span. Trichothiodystrophy (TTD; 601675) mice carrying an additional mutation in Xpa, which enhances the DNA repair defect, showed a greatly accelerated aging phenotype, which correlated with an increased cellular sensitivity to oxidative DNA damage. De Boer et al. (2002) hypothesized that aging in TTD mice is caused by unrepaired DNA damage that compromises transcription, leading to functional inactivation of critical genes and enhanced apoptosis. </p>
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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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<h4>
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<span class="mim-font">
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<strong>History</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Early Mapping Studies</em></strong></p><p>
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Using hamster-human hybrid cells with various chromosomal constitution, Keijzer et al. (1984) excluded linkage of XP group A to the X chromosome, which had been thought to be involved (Stefanini et al., 1982), and found linkage to chromosome 1q. Keijzer et al. (1987) fused human, Chinese hamster or Chinese hamster/human hybrid cytoplasts with UV-irradiated XPA cells. Unscheduled DNA synthesis in the XP nucleus showed correction of the defect immediately after fusion of human cytoplasts, whereas the Chinese hamster cytoplasts did not show this rapid increase in excision repair. The results obtained after fusion of cytoplasts isolated from a panel of 26 Chinese hamster-human hybrids showed that chromosome 1q42-qter contained genetic information necessary for the rapid correction of the XP defect. However, correction was also observed with cytoplasts from a hybrid cell made between a Chinese hamster cell and an XP cell containing human chromosome 1, suggesting that the correcting factor consisted of both human and Chinese hamster components and that the gene mapped to chromosome 1 may not be the one that is mutated in XP of the A group. In fact, the mapping to chromosome 1 was never confirmed (Cleaver, 1993) and the gene was subsequently mapped to chromosome 9. Kaur et al. (1992) observed partial complementation in XP group A cells by a gene that mapped to human chromosome 8. </p>
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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>ALLELIC VARIANTS</strong>
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</span>
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<strong>7 Selected Examples):</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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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A</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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XPA, IVS3AS, G-C
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<br />
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SNP: rs750218942,
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gnomAD: rs750218942,
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ClinVar: RCV000246304, RCV001063951, RCV001255518
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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 19 of 20 Japanese patients with xeroderma pigmentosum complementation group A (XPA; 278700), Tanaka et al. (1990) identified a G-to-C transversion at the 3-prime splice acceptor site of intron 3 of the XPA gene. Satokata et al. (1990) found that the G-to-C transversion abolished the canonical 3-prime splice site and created 2 abnormally spliced mRNA forms. The larger form was identical with normal mRNA except for a dinucleotide deletion at the 5-prime end of exon 4, which resulted in a frameshift with premature termination of translation in exon 4. The smaller form had a deletion of the entire exon 3 and the dinucleotide at the 5-prime end of exon 4. A single base substitution creates a new cleavage site for the restriction endonuclease AlwNI. </p><p>Using the AlwNI RFLP, Satokata et al. (1990) found that 16 of 21 unrelated Japanese patients with XP were homozygous and 4 were heterozygous for this mutation. However, 11 Caucasians and 2 blacks with group A XP did not have this mutant allele. Kore-eda et al. (1992) demonstrated the usefulness of the polymerase chain reaction (PCR) followed by search for the AlwNI RFLP in the diagnosis of XPA. </p><p>Cleaver et al. (1995) stated that homozygosity for the G-to-C transversion at the 3-prime acceptor site of intron III/exon IV of the XPA gene represents 80 to 90% of Japanese patients with XPA. </p><p>Maeda et al. (1995) reported that patients who were homozygous for the common splice site mutation in intron 3 could walk unaided until 7-16 years of age. </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>.0002 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A</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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XPA, CYS108PHE
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<br />
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SNP: rs104894131,
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gnomAD: rs104894131,
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ClinVar: RCV000001048, RCV005055500
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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 cell line derived from a patient with xeroderma pigmentosum complementation group A (XPA; 278700), Satokata et al. (1992) found compound heterozygosity for 2 mutations in the XPA gene: a 323G-T transversion resulting in a cys108-to-phe (C108F) substitution that disrupted a putative zinc finger domain, and a 5-bp deletion (611153.0003). </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>.0003 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A</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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XPA, 5-BP DEL
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<br />
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SNP: rs1200172747,
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gnomAD: rs1200172747,
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ClinVar: RCV000001049, RCV000780797, RCV001057886
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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 cell line derived from a patient with xeroderma pigmentosum complementation group A (XPA; 278700), Satokata et al. (1992) Satokata et al. (1992) found compound heterozygosity for 2 mutations in the XPA gene: a 5-bp deletion causing a frameshift and premature termination, and C108F (611153.0002). </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 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A</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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XPA, ARG228TER
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<br />
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SNP: rs104894132,
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gnomAD: rs104894132,
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ClinVar: RCV000001050, RCV000781924, RCV000815514
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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>Satokata et al. (1992) described a C-to-T transition in exon 6 of the XPA gene, resulting in an arg228-to-ter (R228X) substitution, as a cause of xeroderma pigmentosum complementation group A (XPA; 278700). The mutation created a new cleavage site for the restriction endonuclease HphI. Of 21 unrelated XPA patients examined, 1 was homozygous for this mutation and 3 were compound heterozygotes for this mutation and a splice site mutation in intron 3 (611153.0001). The homozygous patient was atypical with mild skin symptoms and minimal neurologic abnormalities. </p><p>Xeroderma pigmentosum patients in Tunisia who belong to the genetic complementation group A have milder skin symptoms than do Japanese XPA patients. Nishigori et al. (1993) found that 6 of 7 Tunisian XPA patients had the R228X mutation. </p><p>Maeda et al. (1995) reported that a patient who was homozygous for the R228X mutation could walk unaided without any difficulty until the age of 21 years. </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>.0005 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A</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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XPA, ARG207TER
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<br />
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SNP: rs104894133,
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gnomAD: rs104894133,
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ClinVar: RCV000001051, RCV000657642, RCV001420782
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a Palestinian patient with severe xeroderma pigmentosum complementation group A (XPA; 278700), Satokata et al. (1992) identified homozygosity for a nucleotide transition in the XPA gene, resulting in an arg207-to-ter (R207X) substitution. </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>.0006 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A</strong>
|
|
</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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XPA, TYR116TER
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<br />
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SNP: rs104894134,
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gnomAD: rs104894134,
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ClinVar: RCV000001052
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 2 unrelated Japanese patients with severe xeroderma pigmentosum complementation group A (XPA; 278700), Satokata et al. (1992) identified a T-to-A transversion in the XPA gene, resulting in a tyr116-to-ter (Y116X) substitution. One patient was compound heterozygous for this mutation and for the splice site mutation in intron 3 (611153.0001), and the other patient was heterozygous for this mutation and homozygous for the splice site mutation. </p><p>Maeda et al. (1995) reported that a patient who was homozygous for the Y116X mutation had never walked unaided. This was in contrast to the finding in patients homozygous for the common splice site mutation in intron 3 who could walk unaided until 7-16 years of age. </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 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A</strong>
|
|
</span>
|
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</h4>
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</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
XPA, IVS1DS, T-G, +2
|
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<br />
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|
|
SNP: rs1587755557,
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|
|
|
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|
|
|
ClinVar: RCV000001053
|
|
|
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|
|
</span>
|
|
</div>
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Japanese patient with xeroderma pigmentosum complementation group A (XPA; 278700), Tanioka et al. (2005) identified compound heterozygosity for 2 mutations in the XPA gene: a T-to-G transversion in intron 1, resulting in a splice site defect, and the common IVS3 splice site mutation (611153.0001). The intron 1 mutation resulted in 2 different mRNA transcripts that were both predicted to cause frameshift and premature termination. XPA protein was not detected in patient cells, and UV-induced unscheduled DNA synthesis was 4.75% of normal. The patient had photosensitivity but had not developed neurologic involvement by age 6 years. </p>
|
|
</span>
|
|
</div>
|
|
|
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|
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|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
|
|
|
</div>
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|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Keijzer et al. (1982); Mori et al. (1993); Rinaldy et al. (1988);
|
|
Schultz et al. (1985)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bankmann, M., Prakash, L., Prakash, S.
|
|
<strong>Yeast RAD14 and human xeroderma pigmentosum group A DNA-repair genes encode homologous proteins.</strong>
|
|
Nature 355: 555-558, 1992.
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[PubMed: 1741034]
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[Full Text: https://doi.org/10.1038/355555a0]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Cleaver, J. E., Charles, W. C., Thomas, G. H., McDowell, M. L.
|
|
<strong>A deletion and an insertion in the alleles for the xeroderma pigmentosum (XPA) DNA-binding protein in mildly affected patients.</strong>
|
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Hum. Molec. Genet. 4: 1685-1687, 1995.
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[PubMed: 8541864]
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[Full Text: https://doi.org/10.1093/hmg/4.9.1685]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Cleaver, J. E., Thompson, L. H., Richardson, A. S., States, J. C.
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<strong>A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.</strong>
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Hum. Mutat. 14: 9-22, 1999.
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[PubMed: 10447254]
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[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Cleaver, J. E.
|
|
<strong>Personal Communication.</strong>
|
|
San Francisco, Calif. 1/15/1993.
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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|
Dabholkar, M., Vionnet, J., Bostick-Bruton, F., Yu, J. J., Reed, E.
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|
<strong>Messenger RNA levels of XPAC and ERCC1 in ovarian cancer tissue correlate with response to platinum-based chemotherapy.</strong>
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J. Clin. Invest. 94: 703-708, 1994.
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[PubMed: 8040325]
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[Full Text: https://doi.org/10.1172/JCI117388]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Davis, B. E., Koh, H. K., Rohrer, T. E., Gonzalez, E., Cleaver, J. E.
|
|
<strong>Sunlight avoidance and cancer prevention in xeroderma pigmentosum.</strong>
|
|
Arch. Derm. 130: 806-808, 1994.
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[PubMed: 8002661]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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de Boer, J., Andressoo, J. O., de Wit, J., Huijmans, J., Beems, R. B., van Steeg, H., Weeda, G., van der Horst, G. T. J., van Leeuwen, W., Themmen, A. P. N., Meradji, M., Hoeijmakers, J. H. J.
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<strong>Premature aging in mice deficient in DNA repair and transcription.</strong>
|
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Science 296: 1276-1279, 2002.
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[PubMed: 11950998]
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[Full Text: https://doi.org/10.1126/science.1070174]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
de Vries, A., van Oostrom, C. Th. M., Hofhuis, F. M. A., Dortant, P. M., Berg, R. J. W., de Gruijl, F. R., Wester, P. W., van Kreijl, C. F., Capel, P. J. A., van Steeg, H., Verbeek, S. J.
|
|
<strong>Increased susceptibility to ultraviolet-B and carcinogens of mice lacking the DNA excision repair gene XPA.</strong>
|
|
Nature 377: 169-173, 1995.
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|
[PubMed: 7675086]
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[Full Text: https://doi.org/10.1038/377169a0]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Farndon, P. A., Morris, D. J., Hardy, C., McConville, C. M., Weissenbach, J., Kilpatrick, M. W., Reis, A.
|
|
<strong>Analysis of 133 meioses places the genes for nevoid basal cell carcinoma (Gorlin) syndrome and Fanconi anemia group C in a 2.6-cM interval and contributes to the fine map of 9q22.3.</strong>
|
|
Genomics 23: 486-489, 1994.
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[PubMed: 7835901]
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[Full Text: https://doi.org/10.1006/geno.1994.1528]
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</p>
|
|
</li>
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<li>
|
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<p class="mim-text-font">
|
|
Henning, K. A., Schultz, R. A., Sekhon, G. S., Friedberg, E. C.
|
|
<strong>Gene complementing xeroderma pigmentosum group A cells maps to distal human chromosome 9q.</strong>
|
|
Somat. Cell Molec. Genet. 16: 395-400, 1990.
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|
[PubMed: 2218726]
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|
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[Full Text: https://doi.org/10.1007/BF01232467]
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ishizaki, K., Oshimura, M., Sasaki, M. S., Nakamura, Y., Ikenaga, M.
|
|
<strong>Human chromosome 9 can complement UV sensitivity of xeroderma pigmentosum group A cells.</strong>
|
|
Mutat. Res. 235: 209-215, 1990.
|
|
|
|
|
|
[PubMed: 2342508]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0921-8777(90)90076-h]
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</p>
|
|
</li>
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|
<li>
|
|
<p class="mim-text-font">
|
|
Kaur, G. P., Athwal, R. S.
|
|
<strong>Complementation of a DNA repair defect in xeroderma pigmentosum cells by transfer of human chromosome 9.</strong>
|
|
Proc. Nat. Acad. Sci. 86: 8872-8876, 1989.
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|
|
|
|
|
[PubMed: 2813428]
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|
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|
|
[Full Text: https://doi.org/10.1073/pnas.86.22.8872]
|
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Kaur, G. P., Rinaldy, A., Lloyd, R. S., Athwal, R. S.
|
|
<strong>A gene that partially complements xeroderma pigmentosum group A cells maps to human chromosome 8.</strong>
|
|
Somat. Cell Molec. Genet. 18: 371-379, 1992.
|
|
|
|
|
|
[PubMed: 1440057]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF01235760]
|
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|
|
</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Keijzer, W., Stefanini, M., Bootsma, D., Verkerk, A., Geurts van Kessel, A. H. M., Jongkind, J. F., Westerveld, A.
|
|
<strong>Localization of a gene involved in complementation of the defect in xeroderma pigmentosum group A cells on human chromosome 1.</strong>
|
|
Exp. Cell Res. 169: 490-501, 1987.
|
|
|
|
|
|
[PubMed: 3556430]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0014-4827(87)90209-6]
|
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|
|
</p>
|
|
</li>
|
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Keijzer, W., Stefanini, M., Westerveld, A., Bootsma, D.
|
|
<strong>Mapping of the XPAC gene involved in complementation of the defect in xeroderma pigmentosum group A cells. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 37: 508, 1984.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
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