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Entry
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- *613208 - XPC COMPLEX SUBUNIT, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPC
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*613208</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/613208">Table View</a>
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</li>
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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 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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</li>
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</ul>
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</nav>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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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 panel-default" style="margin-top: 0px; border-radius: 0px">
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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=ENSG00000154767;t=ENST00000285021" 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=7508" 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=613208" 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="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=ENSG00000154767;t=ENST00000285021" 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_001354726,NM_001354727,NM_001354729,NM_001354730,NM_004628,NR_148950,NR_148951,XM_047448864,XM_047448865" 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_004628" 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=613208" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
|
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=02046&isoform_id=02046_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/XPC" 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/37996,475157,9438106,16741636,21914794,62897247,71841618,71841628,71841638,119584592,119584593,158260545,189021843,189021845,189021847,189021849,189021851,189021853,189021855,189021857,189021859,189021861,189021863,190335108,190335109,190335111,190335112,190335114,190335115,190335117,190335118,190335119,194380804,224809295,296453081,297718104,608785531,608785776,1234543341,1234543352,1234543376,1237938243,2217345879,2217345881,2462592383,2462592385" 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/Q01831" 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=7508" 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=ENSG00000154767;t=ENST00000285021" 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=XPC" 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=XPC" 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+7508" 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/XPC" 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:7508" 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/7508" 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=chr3&hgg_gene=ENST00000285021.12&hgg_start=14145147&hgg_end=14178601&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:12816" 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:12816" 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/xpc" 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=613208[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=613208[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/ENSG00000154767" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=XPC" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=XPC" 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=XPC" 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=XPC&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/PA37413" 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:12816" 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/FBgn0004698.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:103557" 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/XPC#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:103557" 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/7508/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=7508" 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=WBGene00022296;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-030131-8461" 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">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<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:7508" 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=XPC&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> 25784009<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">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
613208
|
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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>
|
|
<h3>
|
|
<span class="mim-font">
|
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|
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XPC COMPLEX SUBUNIT, DNA DAMAGE RECOGNITION AND REPAIR FACTOR; XPC
|
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</span>
|
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</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
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<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
|
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<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
XPC GENE<br />
|
|
XPCC GENE<br />
|
|
RAD4, YEAST, HOMOLOG OF; RAD4
|
|
</span>
|
|
</h4>
|
|
</div>
|
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</div>
|
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<div>
|
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<br />
|
|
</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=XPC" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">XPC</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
|
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/3/81?start=-3&limit=10&highlight=81">3p25.1</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr3:14145147-14178601&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'})">3:14,145,147-14,178,601</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
|
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|
|
|
</span>
|
|
</p>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
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|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/3/81?start=-3&limit=10&highlight=81">
|
|
3p25.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Xeroderma pigmentosum, group C
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/278720"> 278720 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
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|
|
</tbody>
|
|
</table>
|
|
</div>
|
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</div>
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<div>
|
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<p>The XPC gene encodes a protein that functions as a damage detector involved in the first step of global genome nucleotide excision DNA repair (<a href="#23" class="mim-tip-reference" title="Sugasawa, K., Ng, J. M. Y., Masutani, C., Iwai, S., van der Spek, P. J., Eker, A. P. M., Hanaoka, F., Bootsma, D., Hoeijmakers, J. H. J. <strong>Xeroderma pigmentosum group C protein complex is the initiator of global genome nucleotide excision repair.</strong> Molec. Cell 2: 223-232, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9734359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9734359</a>] [<a href="https://doi.org/10.1016/s1097-2765(00)80132-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9734359">Sugasawa et al. (1998)</a>; <a href="#27" 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>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9734359+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>
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<p><a href="#25" class="mim-tip-reference" title="Teitz, T., Naiman, T., Avissar, S. S., Bar, S., Okayama, H., Canaani, D. <strong>Complementation of the UV-sensitive phenotype of a xeroderma pigmentosum human cell line by transfection with a cDNA clone library.</strong> Proc. Nat. Acad. Sci. 84: 8801-8804, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3480511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3480511</a>] [<a href="https://doi.org/10.1073/pnas.84.24.8801" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3480511">Teitz et al. (1987)</a> were able to correct UV sensitivity in a xeroderma pigmentosum group C (XPC; <a href="/entry/278720">278720</a>) cell line by transfection with a human cDNA library derived from fibroblasts. UV resistance appeared to be closely linked to resistance to G418, an antibiotic. The authors suggested the gene symbol XPCC (for xeroderma pigmentosum group C-complementing). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3480511" 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="Peterson, C., Legerski, R. <strong>High-frequency transformation of human repair-deficient cell lines by an Epstein-Barr virus-based cDNA expression vector.</strong> Gene 107: 279-284, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1660831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1660831</a>] [<a href="https://doi.org/10.1016/0378-1119(91)90328-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1660831">Peterson and Legerski (1991)</a> devised a simple, highly efficient cDNA expression system for use in human cells. <a href="#15" class="mim-tip-reference" title="Legerski, R., Peterson, C. <strong>Expression cloning of a human DNA repair gene involved in xeroderma pigmentosum group C.</strong> Nature 359: 70-73, 1992. Note: Erratum: Nature 360: 610 only, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1522891/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1522891</a>] [<a href="https://doi.org/10.1038/359070a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1522891">Legerski and Peterson (1992)</a> used this system to isolate a cDNA clone that restored the ultraviolet sensitivity and unscheduled DNA synthesis of XPC cells to normal levels. The cloned XPC gene was found to encode a highly hydrophilic protein composed of a predicted 823 amino acids and sharing limited homology with the product of the yeast DNA repair gene RAD4. The XPC transcript was undetectable by Northern blotting in most XPC cell lines examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1522891+1660831" 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>Mouse cells repair UV-induced damage at 5 to 10% of the magnitude of human cells making it possible to distinguish quantitatively human and mouse DNA repair components in cell hybrids. When <a href="#13" class="mim-tip-reference" title="Lalley, P. A., Diaz, J. A., Francis, A. A., Dunn, W. C., Regan, J. D. <strong>The expression and chromosomal assignments of genes required for repair of UV-induced DNA damage.</strong> Cytogenet. Cell Genet. 37: 516 only, 1984."None>Lalley et al. (1984)</a> compared the ability to repair UV-induced DNA damage to the segregation of human chromosomes in the mouse-human hybrid cells, they found a strong correlation with human chromosome 3, indicating that a gene or a cluster of genes required for DNA repair is located on this human chromosome.</p><p><a href="#14" class="mim-tip-reference" title="Legerski, R. J., Liu, P., Li, L., Peterson, C. A., Zhao, Y., Leach, R. J., Naylor, S. L., Siciliano, M. J. <strong>Assignment of xeroderma pigmentosum group C (XPC) gene to chromosome 3p25.</strong> Genomics 21: 266-269, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8088800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8088800</a>] [<a href="https://doi.org/10.1006/geno.1994.1256" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8088800">Legerski et al. (1994)</a> mapped the XPC gene to chromosome 3p25 by somatic cell hybridization. The mouse homolog of XPC maps to chromosome 6 (<a href="#26" class="mim-tip-reference" title="van der Spek, P. J., Visser, C. E., Hanaoka, F., Smit, B., Hagemeijer, A., Bootsma, D., Hoeijmakers, J. H. J. <strong>Cloning, comparative mapping, and RNA expression of the mouse homologues of the Saccharomyces cerevisiae nucleotide excision repair gene RAD23.</strong> Genomics 31: 20-27, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8808275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8808275</a>] [<a href="https://doi.org/10.1006/geno.1996.0004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8808275">van der Spek et al., 1996</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8808275+8088800" 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="#17" class="mim-tip-reference" title="Masutani, C., Sugasawa, K., Yanagisawa, J., Sonoyama, T., Ui, M., Enomoto, T., Takio, K., Tanaka, K., van der Spek, P., Bootsma, D., Hoeijmakers, J. H. J., Hanaoka, F. <strong>Purification and cloning of a nucleotide excision repair complex involving the xeroderma pigmentosum group C protein and a human homologue of yeast RAD23.</strong> EMBO J. 13: 1831-1843, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8168482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8168482</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1994.tb06452.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8168482">Masutani et al. (1994)</a> reported the purification to homogeneity and subsequent cDNA cloning of a repair complex by in vitro complementation of the XPC defect in a cell-free repair system containing UV-damaged SV40 minichromosomes. The complex had a high affinity for single-stranded DNA and consisted of 2 tightly associated proteins of 125 and 58 kD. The 125-kD subunit was an N-terminally extended version of the XPC gene product, which is thought to represent the human homolog of the RAD4 nucleotide excision repair (NER) gene of Saccharomyces cerevisiae. The 58-kD species turned out to be a human homolog of yeast RAD23. Unexpectedly, a second human counterpart of RAD23 was identified. <a href="#17" class="mim-tip-reference" title="Masutani, C., Sugasawa, K., Yanagisawa, J., Sonoyama, T., Ui, M., Enomoto, T., Takio, K., Tanaka, K., van der Spek, P., Bootsma, D., Hoeijmakers, J. H. J., Hanaoka, F. <strong>Purification and cloning of a nucleotide excision repair complex involving the xeroderma pigmentosum group C protein and a human homologue of yeast RAD23.</strong> EMBO J. 13: 1831-1843, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8168482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8168482</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1994.tb06452.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8168482">Masutani et al. (1994)</a> referred to the 2 as HHR23A (<a href="/entry/600061">600061</a>) and HHR23B (<a href="/entry/600062">600062</a>). The 2 RAD23 homologs were expressed in the same cells. However, only the HHR23B protein was found in a complex with p125/XPC. <a href="#17" class="mim-tip-reference" title="Masutani, C., Sugasawa, K., Yanagisawa, J., Sonoyama, T., Ui, M., Enomoto, T., Takio, K., Tanaka, K., van der Spek, P., Bootsma, D., Hoeijmakers, J. H. J., Hanaoka, F. <strong>Purification and cloning of a nucleotide excision repair complex involving the xeroderma pigmentosum group C protein and a human homologue of yeast RAD23.</strong> EMBO J. 13: 1831-1843, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8168482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8168482</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1994.tb06452.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8168482">Masutani et al. (1994)</a> pointed out that no human mutant defective in HHR23A had been identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8168482" 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>The XPC-HHR23B complex is specifically involved in global genome but not transcription-coupled NER. Using a DNA damage recognition-competition assay, <a href="#23" class="mim-tip-reference" title="Sugasawa, K., Ng, J. M. Y., Masutani, C., Iwai, S., van der Spek, P. J., Eker, A. P. M., Hanaoka, F., Bootsma, D., Hoeijmakers, J. H. J. <strong>Xeroderma pigmentosum group C protein complex is the initiator of global genome nucleotide excision repair.</strong> Molec. Cell 2: 223-232, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9734359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9734359</a>] [<a href="https://doi.org/10.1016/s1097-2765(00)80132-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9734359">Sugasawa et al. (1998)</a> identified XPC-HHR23B as the earliest damage detector to initiate NER; it acts before the known damage-binding protein XPA (<a href="/entry/611153">611153</a>). Coimmunoprecipitation and DNase I footprinting showed that XPC-HHR23B binds to a variety of NER lesions. This provides a plausible explanation for the extreme damage specificity exhibited by global genome repair. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9734359" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#27" class="mim-tip-reference" title="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-HR23B 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="#27" 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 (<a href="/entry/126380">126380</a>)-XPF (<a href="/entry/133520">133520</a>), 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><a href="#21" class="mim-tip-reference" title="Shimizu, Y., Iwai, S., Hanaoka, F., Sugasawa, K. <strong>Xeroderma pigmentosum group C protein interacts physically and functionally with thymine DNA glycosylase.</strong> EMBO J. 22: 164-173, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12505994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12505994</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12505994[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/emboj/cdg016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12505994">Shimizu et al. (2003)</a> presented evidence that human and mouse XPC-HR23B complexes interact with thymine DNA glycosylase (TDG; <a href="/entry/601423">601423</a>), which initiates base excision repair of G/T mismatches. XPC-HR23B stimulated TDG activity by promoting the release of TDG following the excision of mismatched T bases. In the presence of apurinic/apyrimidinic endonuclease (APEX; <a href="/entry/107748">107748</a>), XPC-HR23B had an additive effect on TDG turnover without significantly inhibiting the subsequent action of APEX. <a href="#21" class="mim-tip-reference" title="Shimizu, Y., Iwai, S., Hanaoka, F., Sugasawa, K. <strong>Xeroderma pigmentosum group C protein interacts physically and functionally with thymine DNA glycosylase.</strong> EMBO J. 22: 164-173, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12505994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12505994</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12505994[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/emboj/cdg016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12505994">Shimizu et al. (2003)</a> concluded that the XPC-HR23B complex contributes to the suppression of spontaneous mutations and that compromised function in XPC patients may promote carcinogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12505994" 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 studies of the contribution of the XPC gene to DNA repair, <a href="#8" class="mim-tip-reference" title="Emmert, S., Kobayashi, N., Khan, S. G., Kraemer, K. H. <strong>The xeroderma pigmentosum group C gene leads to selective repair of cyclobutane pyrimidine dimers rather than 6-4 photoproducts.</strong> Proc. Nat. Acad. Sci. 97: 2151-2156, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10681431/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10681431</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10681431[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.040559697" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10681431">Emmert et al. (2000)</a> found that the gene leads to selective repair of cyclobutane pyrimidine dimers (CPD) rather than 6-4 photoproducts (6-4PP). Increasing XPC gene expression in vivo led to selective repair of CPD in the global genome. Undetectable XPC protein was associated with no repair of CPD or 6-4PP, detectable but subnormal XPC protein levels reconstituted CPD but not 6-4PP repair, and normal XPC protein levels fully reconstituted both CPD and 6-4PP repair. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10681431" 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 sequence profile analysis, <a href="#1" class="mim-tip-reference" title="Anantharaman, V., Koonin, E. V., Aravind, L. <strong>Peptide-N-glycanases and DNA repair proteins, Xp-C/Rad4, are, respectively, active and inactivated enzymes sharing a common transglutaminase fold.</strong> Hum. Molec. Genet. 10: 1627-1630, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11487565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11487565</a>] [<a href="https://doi.org/10.1093/hmg/10.16.1627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11487565">Anantharaman et al. (2001)</a> showed that RAD4/XPC proteins contain the ancient transglutaminase fold and are specifically related to the peptide-N-glycanases (PNGases) which remove glycans from glycoproteins during their degradation (<a href="#24" class="mim-tip-reference" title="Suzuki, T., Park, H., Hollingsworth, N. M., Sternglanz, R., Lennarz, W. L. <strong>PNG1, a yeast gene encoding a highly conserved peptide:N-glycanase.</strong> J. Cell Biol. 149: 1039-1052, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10831608/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10831608</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10831608[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/10.1083/jcb.149.5.1039" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10831608">Suzuki et al., 2000</a>). The PNGases retain the catalytic triad that is typical of this fold and are predicted to have a reaction mechanism similar to that involved in transglutamination. In contrast, the RAD4/XPC proteins are predicted to be inactive and are likely to possess only the protein interaction function in DNA repair. These proteins also contain a long, low-complexity insert in the globular transglutaminase domain. <a href="#1" class="mim-tip-reference" title="Anantharaman, V., Koonin, E. V., Aravind, L. <strong>Peptide-N-glycanases and DNA repair proteins, Xp-C/Rad4, are, respectively, active and inactivated enzymes sharing a common transglutaminase fold.</strong> Hum. Molec. Genet. 10: 1627-1630, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11487565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11487565</a>] [<a href="https://doi.org/10.1093/hmg/10.16.1627" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11487565">Anantharaman et al. (2001)</a> hypothesized that the RAD4/XPC proteins, along with other inactive transglutaminase-fold proteins, represent a case of functional reassignment of an ancient domain following the loss of the ancestral enzymatic activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10831608+11487565" 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 HeLa and U2OS human cell lines, <a href="#2" class="mim-tip-reference" title="Balbo Pogliano, C. B., Gatti, M., Ruthemann, P., Garajova, Z., Penengo, L., Naegeli, H. <strong>ASH1L histone methyltransferase regulates the handoff between damage recognition factors in global-genome nucleotide excision repair.</strong> Nature Commun. 8: 1333, 2017. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29109511/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29109511</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29109511[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/10.1038/s41467-017-01080-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29109511">Balbo Pogliano et al. (2017)</a> found that the DNA damage sensor and DNA-binding protein DDB2 (<a href="/entry/600811">600811</a>) recruited ASH1L (<a href="/entry/607999">607999</a>) to CPD lesions caused by UV irradiation. In turn, ASH1L trimethylated histone H3 (see <a href="/entry/602810">602810</a>) lys4 (H3K4me3), which promoted stable docking of XPC at nucleosomes near CPD sites and initiation of NER activity. Knockdown of either DDB2 or ASH1L via short interfering RNA abrogated UV-dependent increase in H3K4me3, caused dysregulated XPC recruitment into NER complexes at nucleosomes, and delayed CPD excision and DNA repair. XPC interacted preferentially with nucleosome particles containing H3K4me3 and did not require DNA. Mutation analysis revealed that asp748 in the beta-turn motif of XPC contributed to its association with core histones of nucleosomes and that this interaction determined the efficiency of CPD excision. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29109511" 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="#18" class="mim-tip-reference" title="Min, J.-H., Pavletich, N. P. <strong>Recognition of DNA damage by the Rad4 nucleotide excision repair protein.</strong> Nature 449: 570-575, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17882165/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17882165</a>] [<a href="https://doi.org/10.1038/nature06155" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17882165">Min and Pavletich (2007)</a> presented the crystal structure of the yeast XPC ortholog Rad4 bound to DNA containing a cyclobutane pyrimidine dimer (CPD) lesion. The structure showed that Rad4 inserts a beta-hairpin through the DNA duplex, causing the 2 damaged basepairs to flip out of the double helix. The expelled nucleotides of the undamaged strand are recognized by Rad4, whereas the 2 CPD-linked nucleotides become disordered. <a href="#18" class="mim-tip-reference" title="Min, J.-H., Pavletich, N. P. <strong>Recognition of DNA damage by the Rad4 nucleotide excision repair protein.</strong> Nature 449: 570-575, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17882165/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17882165</a>] [<a href="https://doi.org/10.1038/nature06155" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17882165">Min and Pavletich (2007)</a> concluded that the lesions recognized by Rad4/XPC thermodynamically destabilize the Watson-Crick double helix in a manner that facilitates the flipping out of 2 basepairs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17882165" 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="#16" class="mim-tip-reference" title="Li, L., Bales, E. S., Peterson, C. A., Legerski, R. J. <strong>Characterization of molecular defects in xeroderma pigmentosum group C.</strong> Nature Genet. 5: 413-417, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8298653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8298653</a>] [<a href="https://doi.org/10.1038/ng1293-413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8298653">Li et al. (1993)</a> identified changes in the XPC gene (see, e.g., <a href="#0001">613208.0001</a>-<a href="#0004">613208.0004</a>) in 5 XPC cell lines. In 4 of them, Northern blot analysis of RNAs demonstrated subnormal levels of the XPC transcript, whereas the fifth exhibited a near normal level. Four of the 5 mutations resulted in a truncated protein, and there was a correlation between the degree to which the protein was truncated and the repair defect at the cellular level. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8298653" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In affected members of 2 unrelated but consanguineous Turkish families with XPC, <a href="#12" class="mim-tip-reference" title="Khan, S. G., Metin, A., Gozukara, E., Inui, H., Shahlavi, T., Muniz-Medina, V., Baker, C. C., Ueda, T., Aiken, J. R., Schneider, T. D., Kraemer, K. H. <strong>Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk.</strong> Hum. Molec. Genet. 13: 343-352, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14662655/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14662655</a>] [<a href="https://doi.org/10.1093/hmg/ddh026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14662655">Khan et al. (2004)</a> identified 2 different splice site mutations in the XPC gene (<a href="#0008">613208.0008</a> and <a href="#0009">613208.0009</a>), respectively. RT-PCR of cells from the severely affected patients showed a short mRNA band and no detectable wildtype band. In contrast, cells from the more mildly affected patients had an mRNA band of shorter size and 1 of normal size. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14662655" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="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 in the XPC gene. <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><p>In affected members of 14 Tunisian families with XPC, <a href="#3" class="mim-tip-reference" title="Ben Rekaya, M., Messaoud, O., Talmoudi, F., Nouira, S., Ouragini, H., Amouri, A., Boussen, H., Boubaker, S., Mokni, M., Mokthar, I., Abdelhak, S., Zghal, M. <strong>High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis.</strong> J. Hum. Genet. 54: 426-429, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19478817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19478817</a>] [<a href="https://doi.org/10.1038/jhg.2009.50" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19478817">Ben Rekaya et al. (2009)</a> identified the same homozygous 2-bp deletion (1744delTG; <a href="#0010">613208.0010</a>) in the XPC gene. Haplotype analysis indicated a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19478817" 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="#20" class="mim-tip-reference" title="Sands, A. T., Abuin, A., Sanchez, A., Conti, C. J., Bradley, A. <strong>High susceptibility to ultraviolet-induced carcinogenesis in mice lacking XPC.</strong> Nature 377: 162-165, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7675084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7675084</a>] [<a href="https://doi.org/10.1038/377162a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7675084">Sands et al. (1995)</a> generated XPC-deficient mice by 'knockout' of the mouse homolog of the human XPC gene using embryonic stem cell technology. Mice homozygous for mutant alleles were viable and did not exhibit an increased susceptibility to spontaneous tumor generation at 1 year of age. However, they were found to be highly susceptible to ultraviolet-induced carcinogenesis compared to mice heterozygous for the mutant allele and to wildtype controls. Homozygous mutant mice also displayed a spectrum of ultraviolet exposure-related pathologic skin and eye changes consistent with those found in the human disease xeroderma pigmentosum group C. The deficient mice showed marked hyperplasia of the epidermis with focal areas of hyperkeratosis in varying degrees of dysplasia, acantholysis, and/or dyskeratosis, similar to the human lesions known as actinic or solar keratosis. Changes in the eye included severe keratitis and corneal ulceration. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7675084" 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="#5" class="mim-tip-reference" title="Cheo, D. L., Burns, D. K., Meira, L. B., Houle, J. F., Friedberg, E. C. <strong>Mutational inactivation of the xeroderma pigmentosum group C gene confers predisposition to 2-acetylaminofluorene-induced liver and lung cancer and to spontaneous testicular cancer in Trp53 -/- mice.</strong> Cancer Res. 59: 771-775, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10029060/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10029060</a>]" pmid="10029060">Cheo et al. (1999)</a> studied the XPC -/- mouse to determine whether there is a predisposition to cancers in noncutaneous tissues associated with exposure to environmental carcinogens. They observed a significantly higher incidence of chemically-induced liver and lung tumors in these mice, compared with normal and heterozygous littermates, using 2-acetylaminofluorene and NOH-2-acetylaminofluorene. In addition, the progression of liver tumors in the mice homozygous mutant for XPC and heterozygous mutant for p53 was accelerated, compared with the homozygous mutant XPC mice and homozygous wildtype p53 animals. They also demonstrated a higher incidence of spontaneous testicular tumors in XPC -/- p53 -/- double mutant mice, compared with mice homozygous for mutation only at the p53 locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10029060" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Hollander, M. C., Philburn, R. T., Patterson, A. D., Velasco-Miguel, S., Friedberg, E. C., Linnoila, R. I., Fornace, A. J., Jr. <strong>Deletion of XPC leads to lung tumors in mice and is associated with early events in human lung carcinogenesis.</strong> Proc. Nat. Acad. Sci. 102: 13200-13205, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16141330/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16141330</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16141330[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.0503133102" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16141330">Hollander et al. (2005)</a> found that 100% of Xpc -/- mice developed multiple spontaneous lung tumors with a minority progressing to nonsmall cell lung adenocarcinoma, occasionally with metastasis to adjacent lymph nodes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16141330" 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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<span id="mimAllelicVariantsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>10 Selected Examples</a>):</strong>
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<a href="/allelicVariants/613208" class="btn btn-default" role="button"> Table View </a>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=613208[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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<strong>.0001 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs74737358 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs74737358;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/rs74737358?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=rs74737358" 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=rs74737358" 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=RCV000000277 OR RCV000122346 OR RCV000885048 OR RCV002257356 OR RCV003904788" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000277, RCV000122346, RCV000885048, RCV002257356, RCV003904788" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000277...</a>
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<p>In XPC (<a href="/entry/278720">278720</a>) cell line XP1MI, <a href="#16" class="mim-tip-reference" title="Li, L., Bales, E. S., Peterson, C. A., Legerski, R. J. <strong>Characterization of molecular defects in xeroderma pigmentosum group C.</strong> Nature Genet. 5: 413-417, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8298653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8298653</a>] [<a href="https://doi.org/10.1038/ng1293-413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8298653">Li et al. (1993)</a> identified a mutation in the XPC gene, resulting in a pro218-to-his (P218H) substitution. The finding suggested that the cell line was either homozygous or hemizygous for this mutation. The XP1MI cell line was the most UV-sensitive of 5 cell lines analyzed by <a href="#16" class="mim-tip-reference" title="Li, L., Bales, E. S., Peterson, C. A., Legerski, R. J. <strong>Characterization of molecular defects in xeroderma pigmentosum group C.</strong> Nature Genet. 5: 413-417, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8298653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8298653</a>] [<a href="https://doi.org/10.1038/ng1293-413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8298653">Li et al. (1993)</a>. Furthermore, the patient demonstrated XP-associated neurologic abnormalities, a rarity in group C. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8298653" 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>.0002 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C</strong>
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XPC, 83-BP INS, NT462
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000278" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000278" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000278</a>
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<p>In XPC (<a href="/entry/278720">278720</a>) cell line XP3BE-L3, <a href="#16" class="mim-tip-reference" title="Li, L., Bales, E. S., Peterson, C. A., Legerski, R. J. <strong>Characterization of molecular defects in xeroderma pigmentosum group C.</strong> Nature Genet. 5: 413-417, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8298653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8298653</a>] [<a href="https://doi.org/10.1038/ng1293-413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8298653">Li et al. (1993)</a> identified an 83-bp insertion beginning at position 462 in the XPC cDNA, predicted to result in premature termination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8298653" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a id="0003" class="mim-anchor"></a>
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<span class="mim-font">
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<strong>.0003 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C</strong>
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XPC, 3-BP INS, GGT, CODON 580 AND LYS822GLN
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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> rs1423935768 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1423935768;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/rs1423935768?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=rs1423935768" 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=rs1423935768" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000279 OR RCV000669456 OR RCV004526003" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000279, RCV000669456, RCV004526003" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000279...</a>
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<span class="mim-text-font">
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<p>In XPC (<a href="/entry/278720">278720</a>) cell line XP8BE-L1, <a href="#16" class="mim-tip-reference" title="Li, L., Bales, E. S., Peterson, C. A., Legerski, R. J. <strong>Characterization of molecular defects in xeroderma pigmentosum group C.</strong> Nature Genet. 5: 413-417, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8298653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8298653</a>] [<a href="https://doi.org/10.1038/ng1293-413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8298653">Li et al. (1993)</a> identified 2 mutations in the XPC gene: 1 was a 3-bp insertion (GGT) that resulted in the insertion of a valine residue after val580, and the other was a point mutation that created a nonconservative amino acid change near the carboxyl terminus of the protein (lys822-to-gln; K822Q). The mutation was either homo- or hemizygous. It could not be determined whether only 1 or both of these mutations was responsible for the observed repair deficiency. Of the 5 cell lines examined, XP8BE-L1 was the least sensitive to UV irradiation and exhibited a near-normal level of XPC mRNA. Clinically, the patient XP8BE was diagnosed with XP at birth and was rigorously protected from sunlight from that time; as of 13 years of age, the patient had not exhibited any malignant neoplasms. However, an older brother with XP began to develop tumors by age 13. Like the vast majority of XPC patients, this patient did not exhibit neurologic complications. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8298653" 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>.0004 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C</strong>
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XPC, 2-BP DEL, 1132AA
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs794729654 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs794729654;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=rs794729654" 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=rs794729654" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000280" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000280" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000280</a>
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<p>In XPC (<a href="/entry/278720">278720</a>) cell line XP1BE-L1, <a href="#16" class="mim-tip-reference" title="Li, L., Bales, E. S., Peterson, C. A., Legerski, R. J. <strong>Characterization of molecular defects in xeroderma pigmentosum group C.</strong> Nature Genet. 5: 413-417, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8298653/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8298653</a>] [<a href="https://doi.org/10.1038/ng1293-413" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8298653">Li et al. (1993)</a> identified a 2-bp deletion (1132delA) in the XPC gene, predicted to result in premature termination of the protein by a new stop codon 15 nucleotides downstream. The deletion appeared to be either homozygous or hemizygous. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8298653" 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>.0005 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C</strong>
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XPC, IVS9DS, 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">rs794729655 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs794729655;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=rs794729655" 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=rs794729655" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000000281" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000281" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000281</a>
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<div class="mim-changed mim-change"><p>In a 4-year-old boy of Korean ancestry who had xeroderma pigmentosum type C (XPC; <a href="/entry/278720">278720</a>) characterized by sun sensitivity and multiple cutaneous neoplasms, <a href="#11" class="mim-tip-reference" title="Khan, S. G., Levy, H. L., Legerski, R., Quackenbush, E., Reardon, J. T., Emmert, S., Sancar, A., Li, L., Schneider, T. D., Cleaver, J. E., Kraemer, K. H. <strong>Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia.</strong> J. Invest. Derm. 111: 791-796, 1998. Note: Erratum: J. Invest. Derm. 112: 402 only, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9804340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9804340</a>] [<a href="https://doi.org/10.1046/j.1523-1747.1998.00391.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9804340">Khan et al. (1998)</a> found a T-to-G transversion at the splice donor site of exon 9 of the XPC gene. The patient had some unusual neurologic features, including the inability to speak, hyperactivity, and autistic features. There was a markedly decreased level of XPC mRNA, and the splice site mutation was found to generate 3 different isoforms: 1 with loss of exon 9, resulting in premature termination; another with an insertion of exons 9a and 9b; and a third with a deletion of exon 9 and insertion of exon 9a. The exon 9a insertion was located in intron 9 and was flanked by strong splice donor and acceptor sequences. Analysis of the patient's blood showed persistently low levels of glycine (68 microM; normal = 125-318 microM). Normal glycine levels were maintained with oral glycine supplements, and the patient's hyperactivity diminished. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9804340" 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></div>
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<strong>.0006 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs752088918 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs752088918;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/rs752088918?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=rs752088918" 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=rs752088918" 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=RCV000000282 OR RCV000589161 OR RCV001062453" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000282, RCV000589161, RCV001062453" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000282...</a>
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<div class="mim-changed mim-change"><p>In 2 Israeli sibs with severe xeroderma pigmentosum type C (XPC; <a href="/entry/278720">278720</a>), <a href="#22" class="mim-tip-reference" title="Slor, H., Batko, S., Khan, S. G., Sobe, T., Emmert, S., Khadavi, A., Frumkin, A., Busch, D. B., Albert, R. B., Kraemer, K. H. <strong>Clinical, cellular, and molecular features of an Israeli xeroderma pigmentosum family with a frameshift mutation in the XPC gene: sun protection prolongs life.</strong> J. Invest. Derm. 115: 974-980, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11121128/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11121128</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2000.00190.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11121128">Slor et al. (2000)</a> identified a homozygous 2-bp deletion (669delAT) in exon 5 of the XPC gene, predicted to result in a truncated protein. Cultured skin fibroblasts from both patients showed reductions in postultraviolet survival (11% of normal), unscheduled DNA synthesis (10% of normal), global genome DNA repair (15% of normal), and plasmid host cell reactivation (5% of normal). Transcription-coupled DNA repair was normal, however. Northern blot analysis revealed greatly reduced xeroderma pigmentosum complementation group C mRNA. Sun protection delayed the onset of skin cancer and prolonged life in the second sib. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11121128" 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></div>
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<strong>.0007 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121965088 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121965088;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/rs121965088?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=rs121965088" 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=rs121965088" 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=RCV000000283 OR RCV001260295 OR RCV001851508" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000283, RCV001260295, RCV001851508" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000283...</a>
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<div class="mim-changed mim-change"><p>In 2 severely affected Turkish sibs with xeroderma pigmentosum type C (XPC; <a href="/entry/278720">278720</a>), a boy with multiple skin cancers who died at age 10 (XP67TMA), and an 8-year-old girl who began developing skin cancer before 3 years of age (XP68TMA), <a href="#9" class="mim-tip-reference" title="Gozukara, E. M., Khan, S. G., Metin, A., Emmert, S., Busch, D. B., Shahlavi, T., Coleman, D. M., Miller, M., Chinsomboon, N., Stefanini, M., Kraemer, K. H. <strong>A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor.</strong> J. Invest. Derm. 117: 197-204, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11511294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11511294</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2001.01424.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11511294">Gozukara et al. (2001)</a> identified a 1840C-T transition in exon 8 of the XPC gene, resulting in an arg579-to-ter (R579X) substitution. This change would lead to a truncation of the XPC protein at amino acid 579 rather than at its full length of 940 amino acids. Restriction fragment length polymorphism (RFLP) analysis of XPC exon 8 DNA showed that both affected children were homozygous and both parents were heterozygous for the mutation, consistent with a history of consanguinity in the family. This mutation was reported by <a href="#4" class="mim-tip-reference" title="Chavanne, F., Broughton, B. C., Pietra, D., Nardo, T., Browitt, A., Lehmann, A. R., Stefanini, M. <strong>Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels.</strong> Cancer Res. 60: 1974-1982, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10766188/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10766188</a>]" pmid="10766188">Chavanne et al. (2000)</a> in an Italian patient (XP10PV) from Bologna who developed skin cancers beginning at age 4 years. She had ocular lesions including tumors and died at age 15 years. The parents were not known to be consanguineous. <a href="#9" class="mim-tip-reference" title="Gozukara, E. M., Khan, S. G., Metin, A., Emmert, S., Busch, D. B., Shahlavi, T., Coleman, D. M., Miller, M., Chinsomboon, N., Stefanini, M., Kraemer, K. H. <strong>A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor.</strong> J. Invest. Derm. 117: 197-204, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11511294/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11511294</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2001.01424.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11511294">Gozukara et al. (2001)</a> studied 19 microsatellite markers flanking the XPC gene on chromosome 3; their results suggested that the XPC allele passed between Italy and Turkey approximately 300 to 500 years ago. The R579X XPC allele is thus associated with severe clinical disease with multiple skin cancers and early death. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11511294+10766188" 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></div>
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<strong>.0008 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs794729656 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs794729656;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=rs794729656" 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=rs794729656" 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=RCV000000284" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000284" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000284</a>
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<div class="mim-changed mim-change"><p>In 2 sibs with xeroderma pigmentosum type C (XPC; <a href="/entry/278720">278720</a>) and multiple skin cancers from a consanguineous Turkish family, <a href="#12" class="mim-tip-reference" title="Khan, S. G., Metin, A., Gozukara, E., Inui, H., Shahlavi, T., Muniz-Medina, V., Baker, C. C., Ueda, T., Aiken, J. R., Schneider, T. D., Kraemer, K. H. <strong>Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk.</strong> Hum. Molec. Genet. 13: 343-352, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14662655/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14662655</a>] [<a href="https://doi.org/10.1093/hmg/ddh026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14662655">Khan et al. (2004)</a> identified homozygosity for a -9T-A transversion in intron 3 of the XPC gene. The mutation was located in a splice lariat branchpoint sequence. PCR analysis of fibroblast cells detected an XPC mRNA isoform with deletion of exon 4 that had no DNA repair activity in a post-UV host cell reactivation assay. The 20-year-old male and his 16-year-old sister were severely affected. They developed skin lesions at 3 years of age. Both had cutaneous atrophy, telangiectasia, actinic keratoses, and multiple skin cancers including squamous cell carcinomas, basal cell carcinomas, and melanomas. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14662655" 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></div>
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<strong>.0009 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs794729657 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs794729657;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=rs794729657" 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=rs794729657" 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=RCV000000285 OR RCV002292452" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000285, RCV002292452" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000285...</a>
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<div class="mim-changed mim-change"><p>In 3 sibs with mild xeroderma pigmentosum type C (XPC; <a href="/entry/278720">278720</a>) from a consanguineous Turkish family, <a href="#12" class="mim-tip-reference" title="Khan, S. G., Metin, A., Gozukara, E., Inui, H., Shahlavi, T., Muniz-Medina, V., Baker, C. C., Ueda, T., Aiken, J. R., Schneider, T. D., Kraemer, K. H. <strong>Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk.</strong> Hum. Molec. Genet. 13: 343-352, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14662655/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14662655</a>] [<a href="https://doi.org/10.1093/hmg/ddh026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14662655">Khan et al. (2004)</a> identified homozygosity for a -24A-G transition in intron 3 of the XPC gene. Cells from the affected sibs produced 3 to 5% normal XPC message and had a higher level of post-UV host cell reactivation than cells from the severely affected sibs harboring the -9T-A mutation (<a href="#0008">613208.0008</a>). The authors concluded that a small amount of normal XPC mRNA can provide partial protection against skin cancers. The 3 sisters, aged 20, 18, and 11 years, were mildly affected. Skin lesions began at age 3 to 5 years. They had freckling but no skin atrophy, telangiectasia, or actinic keratoses. The oldest sister had a squamous cell carcinoma excised from her face at age 12 years. The other sisters did not have skin cancer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14662655" 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></div>
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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> rs754532049 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs754532049;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/rs754532049?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=rs754532049" 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=rs754532049" 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=RCV000000286 OR RCV000781925 OR RCV000791609 OR RCV002251840 OR RCV003952331" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000000286, RCV000781925, RCV000791609, RCV002251840, RCV003952331" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000000286...</a>
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<div class="mim-changed mim-change"><p>In affected members of 14 Tunisian families with severe xeroderma pigmentosum type C (XPC; <a href="/entry/278720">278720</a>), <a href="#3" class="mim-tip-reference" title="Ben Rekaya, M., Messaoud, O., Talmoudi, F., Nouira, S., Ouragini, H., Amouri, A., Boussen, H., Boubaker, S., Mokni, M., Mokthar, I., Abdelhak, S., Zghal, M. <strong>High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis.</strong> J. Hum. Genet. 54: 426-429, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19478817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19478817</a>] [<a href="https://doi.org/10.1038/jhg.2009.50" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19478817">Ben Rekaya et al. (2009)</a> identified a homozygous 2-bp deletion (1744delTG) in exon 9 of the XPC gene, resulting in a frameshift and premature termination (fsTer572). Clinical features included photophobia and skin tumors, including basal cell carcinoma, squamous cell carcinoma, and malignant melanoma. None of the patients had neurologic abnormalities. Haplotype analysis indicated a founder effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19478817" 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></div>
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<a href="#Cleaver1986" class="mim-tip-reference" title="Cleaver, J. E. <strong>DNA repair in human xeroderma pigmentosum group C cells involves a different distribution of damaged sites in confluent and growing cells.</strong> Nucleic Acids Res. 14: 8155-8165, 1986.">Cleaver (1986)</a>
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Ben Rekaya, M., Messaoud, O., Talmoudi, F., Nouira, S., Ouragini, H., Amouri, A., Boussen, H., Boubaker, S., Mokni, M., Mokthar, I., Abdelhak, S., Zghal, M.
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<strong>High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis.</strong>
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J. Hum. Genet. 54: 426-429, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19478817/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19478817</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19478817" 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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Cleaver, J. E.
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<strong>DNA repair in human xeroderma pigmentosum group C cells involves a different distribution of damaged sites in confluent and growing cells.</strong>
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[<a href="https://doi.org/10.1093/nar/14.20.8155" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.040559697" target="_blank">Full Text</a>]
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Gozukara, E. M., Khan, S. G., Metin, A., Emmert, S., Busch, D. B., Shahlavi, T., Coleman, D. M., Miller, M., Chinsomboon, N., Stefanini, M., Kraemer, K. H.
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[<a href="https://doi.org/10.1046/j.1523-1747.2001.01424.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.0503133102" target="_blank">Full Text</a>]
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Khan, S. G., Levy, H. L., Legerski, R., Quackenbush, E., Reardon, J. T., Emmert, S., Sancar, A., Li, L., Schneider, T. D., Cleaver, J. E., Kraemer, K. H.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9804340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9804340</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9804340" 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/10.1046/j.1523-1747.1998.00391.x" target="_blank">Full Text</a>]
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Khan, S. G., Metin, A., Gozukara, E., Inui, H., Shahlavi, T., Muniz-Medina, V., Baker, C. C., Ueda, T., Aiken, J. R., Schneider, T. D., Kraemer, K. H.
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[<a href="https://doi.org/10.1093/hmg/ddh026" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8088800/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8088800</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8088800" 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.1994.1256" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1046/j.1523-1747.2000.00190.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/s1097-2765(00)80132-x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/geno.1996.0004" 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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[<a href="https://doi.org/10.1016/s1097-2765(01)00281-7" target="_blank">Full Text</a>]
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Patricia A. Hartz - updated : 02/08/2018
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Cassandra L. Kniffin : 1/7/2010
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carol : 08/07/2020<br>carol : 02/09/2018<br>mgross : 02/08/2018<br>carol : 06/03/2014<br>carol : 9/12/2013<br>carol : 3/12/2013<br>terry : 8/9/2012<br>carol : 12/3/2010<br>terry : 11/5/2010<br>carol : 1/12/2010<br>ckniffin : 1/8/2010
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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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XPC GENE<br />
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XPCC GENE<br />
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RAD4, YEAST, HOMOLOG OF; RAD4
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: XPC</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> 25784009;
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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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<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: 3p25.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 3:14,145,147-14,178,601 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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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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<tr>
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<td rowspan="1">
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<span class="mim-font">
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3p25.1
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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 C
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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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278720
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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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</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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<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>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 XPC gene encodes a protein that functions as a damage detector involved in the first step of global genome nucleotide excision DNA repair (Sugasawa et al. (1998); Volker et al., 2001). </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>Teitz et al. (1987) were able to correct UV sensitivity in a xeroderma pigmentosum group C (XPC; 278720) cell line by transfection with a human cDNA library derived from fibroblasts. UV resistance appeared to be closely linked to resistance to G418, an antibiotic. The authors suggested the gene symbol XPCC (for xeroderma pigmentosum group C-complementing). </p><p>Peterson and Legerski (1991) devised a simple, highly efficient cDNA expression system for use in human cells. Legerski and Peterson (1992) used this system to isolate a cDNA clone that restored the ultraviolet sensitivity and unscheduled DNA synthesis of XPC cells to normal levels. The cloned XPC gene was found to encode a highly hydrophilic protein composed of a predicted 823 amino acids and sharing limited homology with the product of the yeast DNA repair gene RAD4. The XPC transcript was undetectable by Northern blotting in most XPC cell lines examined. </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>Mouse cells repair UV-induced damage at 5 to 10% of the magnitude of human cells making it possible to distinguish quantitatively human and mouse DNA repair components in cell hybrids. When Lalley et al. (1984) compared the ability to repair UV-induced DNA damage to the segregation of human chromosomes in the mouse-human hybrid cells, they found a strong correlation with human chromosome 3, indicating that a gene or a cluster of genes required for DNA repair is located on this human chromosome.</p><p>Legerski et al. (1994) mapped the XPC gene to chromosome 3p25 by somatic cell hybridization. The mouse homolog of XPC maps to chromosome 6 (van der Spek et al., 1996). </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>Masutani et al. (1994) reported the purification to homogeneity and subsequent cDNA cloning of a repair complex by in vitro complementation of the XPC defect in a cell-free repair system containing UV-damaged SV40 minichromosomes. The complex had a high affinity for single-stranded DNA and consisted of 2 tightly associated proteins of 125 and 58 kD. The 125-kD subunit was an N-terminally extended version of the XPC gene product, which is thought to represent the human homolog of the RAD4 nucleotide excision repair (NER) gene of Saccharomyces cerevisiae. The 58-kD species turned out to be a human homolog of yeast RAD23. Unexpectedly, a second human counterpart of RAD23 was identified. Masutani et al. (1994) referred to the 2 as HHR23A (600061) and HHR23B (600062). The 2 RAD23 homologs were expressed in the same cells. However, only the HHR23B protein was found in a complex with p125/XPC. Masutani et al. (1994) pointed out that no human mutant defective in HHR23A had been identified. </p><p>The XPC-HHR23B complex is specifically involved in global genome but not transcription-coupled NER. Using a DNA damage recognition-competition assay, Sugasawa et al. (1998) identified XPC-HHR23B as the earliest damage detector to initiate NER; it acts before the known damage-binding protein XPA (611153). Coimmunoprecipitation and DNase I footprinting showed that XPC-HHR23B binds to a variety of NER lesions. This provides a plausible explanation for the extreme damage specificity exhibited by global genome repair. </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-HR23B 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 (126380)-XPF (133520), 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>Shimizu et al. (2003) presented evidence that human and mouse XPC-HR23B complexes interact with thymine DNA glycosylase (TDG; 601423), which initiates base excision repair of G/T mismatches. XPC-HR23B stimulated TDG activity by promoting the release of TDG following the excision of mismatched T bases. In the presence of apurinic/apyrimidinic endonuclease (APEX; 107748), XPC-HR23B had an additive effect on TDG turnover without significantly inhibiting the subsequent action of APEX. Shimizu et al. (2003) concluded that the XPC-HR23B complex contributes to the suppression of spontaneous mutations and that compromised function in XPC patients may promote carcinogenesis. </p><p>In studies of the contribution of the XPC gene to DNA repair, Emmert et al. (2000) found that the gene leads to selective repair of cyclobutane pyrimidine dimers (CPD) rather than 6-4 photoproducts (6-4PP). Increasing XPC gene expression in vivo led to selective repair of CPD in the global genome. Undetectable XPC protein was associated with no repair of CPD or 6-4PP, detectable but subnormal XPC protein levels reconstituted CPD but not 6-4PP repair, and normal XPC protein levels fully reconstituted both CPD and 6-4PP repair. </p><p>Using sequence profile analysis, Anantharaman et al. (2001) showed that RAD4/XPC proteins contain the ancient transglutaminase fold and are specifically related to the peptide-N-glycanases (PNGases) which remove glycans from glycoproteins during their degradation (Suzuki et al., 2000). The PNGases retain the catalytic triad that is typical of this fold and are predicted to have a reaction mechanism similar to that involved in transglutamination. In contrast, the RAD4/XPC proteins are predicted to be inactive and are likely to possess only the protein interaction function in DNA repair. These proteins also contain a long, low-complexity insert in the globular transglutaminase domain. Anantharaman et al. (2001) hypothesized that the RAD4/XPC proteins, along with other inactive transglutaminase-fold proteins, represent a case of functional reassignment of an ancient domain following the loss of the ancestral enzymatic activity. </p><p>Using HeLa and U2OS human cell lines, Balbo Pogliano et al. (2017) found that the DNA damage sensor and DNA-binding protein DDB2 (600811) recruited ASH1L (607999) to CPD lesions caused by UV irradiation. In turn, ASH1L trimethylated histone H3 (see 602810) lys4 (H3K4me3), which promoted stable docking of XPC at nucleosomes near CPD sites and initiation of NER activity. Knockdown of either DDB2 or ASH1L via short interfering RNA abrogated UV-dependent increase in H3K4me3, caused dysregulated XPC recruitment into NER complexes at nucleosomes, and delayed CPD excision and DNA repair. XPC interacted preferentially with nucleosome particles containing H3K4me3 and did not require DNA. Mutation analysis revealed that asp748 in the beta-turn motif of XPC contributed to its association with core histones of nucleosomes and that this interaction determined the efficiency of CPD excision. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
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|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Biochemical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Crystal Structure</em></strong></p><p>
|
|
Min and Pavletich (2007) presented the crystal structure of the yeast XPC ortholog Rad4 bound to DNA containing a cyclobutane pyrimidine dimer (CPD) lesion. The structure showed that Rad4 inserts a beta-hairpin through the DNA duplex, causing the 2 damaged basepairs to flip out of the double helix. The expelled nucleotides of the undamaged strand are recognized by Rad4, whereas the 2 CPD-linked nucleotides become disordered. Min and Pavletich (2007) concluded that the lesions recognized by Rad4/XPC thermodynamically destabilize the Watson-Crick double helix in a manner that facilitates the flipping out of 2 basepairs. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Li et al. (1993) identified changes in the XPC gene (see, e.g., 613208.0001-613208.0004) in 5 XPC cell lines. In 4 of them, Northern blot analysis of RNAs demonstrated subnormal levels of the XPC transcript, whereas the fifth exhibited a near normal level. Four of the 5 mutations resulted in a truncated protein, and there was a correlation between the degree to which the protein was truncated and the repair defect at the cellular level. </p><p>In affected members of 2 unrelated but consanguineous Turkish families with XPC, Khan et al. (2004) identified 2 different splice site mutations in the XPC gene (613208.0008 and 613208.0009), respectively. RT-PCR of cells from the severely affected patients showed a short mRNA band and no detectable wildtype band. In contrast, cells from the more mildly affected patients had an mRNA band of shorter size and 1 of normal size. </p><p>Cleaver et al. (1999) reviewed mutations in the XPC gene. </p><p>In affected members of 14 Tunisian families with XPC, Ben Rekaya et al. (2009) identified the same homozygous 2-bp deletion (1744delTG; 613208.0010) in the XPC gene. Haplotype analysis indicated a founder effect. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
|
<span class="mim-text-font">
|
|
<p>Sands et al. (1995) generated XPC-deficient mice by 'knockout' of the mouse homolog of the human XPC gene using embryonic stem cell technology. Mice homozygous for mutant alleles were viable and did not exhibit an increased susceptibility to spontaneous tumor generation at 1 year of age. However, they were found to be highly susceptible to ultraviolet-induced carcinogenesis compared to mice heterozygous for the mutant allele and to wildtype controls. Homozygous mutant mice also displayed a spectrum of ultraviolet exposure-related pathologic skin and eye changes consistent with those found in the human disease xeroderma pigmentosum group C. The deficient mice showed marked hyperplasia of the epidermis with focal areas of hyperkeratosis in varying degrees of dysplasia, acantholysis, and/or dyskeratosis, similar to the human lesions known as actinic or solar keratosis. Changes in the eye included severe keratitis and corneal ulceration. </p><p>Cheo et al. (1999) studied the XPC -/- mouse to determine whether there is a predisposition to cancers in noncutaneous tissues associated with exposure to environmental carcinogens. They observed a significantly higher incidence of chemically-induced liver and lung tumors in these mice, compared with normal and heterozygous littermates, using 2-acetylaminofluorene and NOH-2-acetylaminofluorene. In addition, the progression of liver tumors in the mice homozygous mutant for XPC and heterozygous mutant for p53 was accelerated, compared with the homozygous mutant XPC mice and homozygous wildtype p53 animals. They also demonstrated a higher incidence of spontaneous testicular tumors in XPC -/- p53 -/- double mutant mice, compared with mice homozygous for mutation only at the p53 locus. </p><p>Hollander et al. (2005) found that 100% of Xpc -/- mice developed multiple spontaneous lung tumors with a minority progressing to nonsmall cell lung adenocarcinoma, occasionally with metastasis to adjacent lymph nodes. </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>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>10 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C</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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|
|
XPC, PRO218HIS
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|
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<br />
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|
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SNP: rs74737358,
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|
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gnomAD: rs74737358,
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|
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ClinVar: RCV000000277, RCV000122346, RCV000885048, RCV002257356, RCV003904788
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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 XPC (278720) cell line XP1MI, Li et al. (1993) identified a mutation in the XPC gene, resulting in a pro218-to-his (P218H) substitution. The finding suggested that the cell line was either homozygous or hemizygous for this mutation. The XP1MI cell line was the most UV-sensitive of 5 cell lines analyzed by Li et al. (1993). Furthermore, the patient demonstrated XP-associated neurologic abnormalities, a rarity in group C. </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>.0002 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C</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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XPC, 83-BP INS, NT462
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<br />
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ClinVar: RCV000000278
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In XPC (278720) cell line XP3BE-L3, Li et al. (1993) identified an 83-bp insertion beginning at position 462 in the XPC cDNA, predicted to result in premature termination. </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C</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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XPC, 3-BP INS, GGT, CODON 580 AND LYS822GLN
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<br />
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|
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SNP: rs1423935768,
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gnomAD: rs1423935768,
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ClinVar: RCV000000279, RCV000669456, RCV004526003
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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 XPC (278720) cell line XP8BE-L1, Li et al. (1993) identified 2 mutations in the XPC gene: 1 was a 3-bp insertion (GGT) that resulted in the insertion of a valine residue after val580, and the other was a point mutation that created a nonconservative amino acid change near the carboxyl terminus of the protein (lys822-to-gln; K822Q). The mutation was either homo- or hemizygous. It could not be determined whether only 1 or both of these mutations was responsible for the observed repair deficiency. Of the 5 cell lines examined, XP8BE-L1 was the least sensitive to UV irradiation and exhibited a near-normal level of XPC mRNA. Clinically, the patient XP8BE was diagnosed with XP at birth and was rigorously protected from sunlight from that time; as of 13 years of age, the patient had not exhibited any malignant neoplasms. However, an older brother with XP began to develop tumors by age 13. Like the vast majority of XPC patients, this patient did not exhibit neurologic complications. </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>.0004 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C</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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XPC, 2-BP DEL, 1132AA
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<br />
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SNP: rs794729654,
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ClinVar: RCV000000280
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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 XPC (278720) cell line XP1BE-L1, Li et al. (1993) identified a 2-bp deletion (1132delA) in the XPC gene, predicted to result in premature termination of the protein by a new stop codon 15 nucleotides downstream. The deletion appeared to be either homozygous or hemizygous. </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 C</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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XPC, IVS9DS, T-G, +2
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<br />
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SNP: rs794729655,
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ClinVar: RCV000000281
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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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<div class="mim-changed mim-change"><p>In a 4-year-old boy of Korean ancestry who had xeroderma pigmentosum type C (XPC; 278720) characterized by sun sensitivity and multiple cutaneous neoplasms, Khan et al. (1998) found a T-to-G transversion at the splice donor site of exon 9 of the XPC gene. The patient had some unusual neurologic features, including the inability to speak, hyperactivity, and autistic features. There was a markedly decreased level of XPC mRNA, and the splice site mutation was found to generate 3 different isoforms: 1 with loss of exon 9, resulting in premature termination; another with an insertion of exons 9a and 9b; and a third with a deletion of exon 9 and insertion of exon 9a. The exon 9a insertion was located in intron 9 and was flanked by strong splice donor and acceptor sequences. Analysis of the patient's blood showed persistently low levels of glycine (68 microM; normal = 125-318 microM). Normal glycine levels were maintained with oral glycine supplements, and the patient's hyperactivity diminished. </p></div>
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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>.0006 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C</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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XPC, 2-BP DEL, 669AT
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<br />
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SNP: rs752088918,
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gnomAD: rs752088918,
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ClinVar: RCV000000282, RCV000589161, RCV001062453
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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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<div class="mim-changed mim-change"><p>In 2 Israeli sibs with severe xeroderma pigmentosum type C (XPC; 278720), Slor et al. (2000) identified a homozygous 2-bp deletion (669delAT) in exon 5 of the XPC gene, predicted to result in a truncated protein. Cultured skin fibroblasts from both patients showed reductions in postultraviolet survival (11% of normal), unscheduled DNA synthesis (10% of normal), global genome DNA repair (15% of normal), and plasmid host cell reactivation (5% of normal). Transcription-coupled DNA repair was normal, however. Northern blot analysis revealed greatly reduced xeroderma pigmentosum complementation group C mRNA. Sun protection delayed the onset of skin cancer and prolonged life in the second sib. </p></div>
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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>.0007 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C</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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XPC, ARG579TER
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<br />
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SNP: rs121965088,
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gnomAD: rs121965088,
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ClinVar: RCV000000283, RCV001260295, RCV001851508
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<div class="mim-changed mim-change"><p>In 2 severely affected Turkish sibs with xeroderma pigmentosum type C (XPC; 278720), a boy with multiple skin cancers who died at age 10 (XP67TMA), and an 8-year-old girl who began developing skin cancer before 3 years of age (XP68TMA), Gozukara et al. (2001) identified a 1840C-T transition in exon 8 of the XPC gene, resulting in an arg579-to-ter (R579X) substitution. This change would lead to a truncation of the XPC protein at amino acid 579 rather than at its full length of 940 amino acids. Restriction fragment length polymorphism (RFLP) analysis of XPC exon 8 DNA showed that both affected children were homozygous and both parents were heterozygous for the mutation, consistent with a history of consanguinity in the family. This mutation was reported by Chavanne et al. (2000) in an Italian patient (XP10PV) from Bologna who developed skin cancers beginning at age 4 years. She had ocular lesions including tumors and died at age 15 years. The parents were not known to be consanguineous. Gozukara et al. (2001) studied 19 microsatellite markers flanking the XPC gene on chromosome 3; their results suggested that the XPC allele passed between Italy and Turkey approximately 300 to 500 years ago. The R579X XPC allele is thus associated with severe clinical disease with multiple skin cancers and early death. </p></div>
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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>.0008 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C</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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XPC, IVS3AS, T-A, -9
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<br />
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SNP: rs794729656,
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ClinVar: RCV000000284
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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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<div class="mim-changed mim-change"><p>In 2 sibs with xeroderma pigmentosum type C (XPC; 278720) and multiple skin cancers from a consanguineous Turkish family, Khan et al. (2004) identified homozygosity for a -9T-A transversion in intron 3 of the XPC gene. The mutation was located in a splice lariat branchpoint sequence. PCR analysis of fibroblast cells detected an XPC mRNA isoform with deletion of exon 4 that had no DNA repair activity in a post-UV host cell reactivation assay. The 20-year-old male and his 16-year-old sister were severely affected. They developed skin lesions at 3 years of age. Both had cutaneous atrophy, telangiectasia, actinic keratoses, and multiple skin cancers including squamous cell carcinomas, basal cell carcinomas, and melanomas. </p></div>
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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>.0009 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C</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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XPC, IVS3AS, A-G, -24
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<br />
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SNP: rs794729657,
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ClinVar: RCV000000285, RCV002292452
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<div class="mim-changed mim-change"><p>In 3 sibs with mild xeroderma pigmentosum type C (XPC; 278720) from a consanguineous Turkish family, Khan et al. (2004) identified homozygosity for a -24A-G transition in intron 3 of the XPC gene. Cells from the affected sibs produced 3 to 5% normal XPC message and had a higher level of post-UV host cell reactivation than cells from the severely affected sibs harboring the -9T-A mutation (613208.0008). The authors concluded that a small amount of normal XPC mRNA can provide partial protection against skin cancers. The 3 sisters, aged 20, 18, and 11 years, were mildly affected. Skin lesions began at age 3 to 5 years. They had freckling but no skin atrophy, telangiectasia, or actinic keratoses. The oldest sister had a squamous cell carcinoma excised from her face at age 12 years. The other sisters did not have skin cancer. </p></div>
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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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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP C</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
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|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
XPC, 2-BP DEL, 1744TG
|
|
|
|
|
|
<br />
|
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|
|
SNP: rs754532049,
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|
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|
|
|
gnomAD: rs754532049,
|
|
|
|
|
|
ClinVar: RCV000000286, RCV000781925, RCV000791609, RCV002251840, RCV003952331
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<div class="mim-changed mim-change"><p>In affected members of 14 Tunisian families with severe xeroderma pigmentosum type C (XPC; 278720), Ben Rekaya et al. (2009) identified a homozygous 2-bp deletion (1744delTG) in exon 9 of the XPC gene, resulting in a frameshift and premature termination (fsTer572). Clinical features included photophobia and skin tumors, including basal cell carcinoma, squamous cell carcinoma, and malignant melanoma. None of the patients had neurologic abnormalities. Haplotype analysis indicated a founder effect. </p></div>
|
|
</span>
|
|
</div>
|
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Cleaver (1986)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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|
|
|
<div>
|
|
<ol>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Anantharaman, V., Koonin, E. V., Aravind, L.
|
|
<strong>Peptide-N-glycanases and DNA repair proteins, Xp-C/Rad4, are, respectively, active and inactivated enzymes sharing a common transglutaminase fold.</strong>
|
|
Hum. Molec. Genet. 10: 1627-1630, 2001.
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[PubMed: 11487565]
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[Full Text: https://doi.org/10.1093/hmg/10.16.1627]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Balbo Pogliano, C. B., Gatti, M., Ruthemann, P., Garajova, Z., Penengo, L., Naegeli, H.
|
|
<strong>ASH1L histone methyltransferase regulates the handoff between damage recognition factors in global-genome nucleotide excision repair.</strong>
|
|
Nature Commun. 8: 1333, 2017. Note: Electronic Article.
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|
[PubMed: 29109511]
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[Full Text: https://doi.org/10.1038/s41467-017-01080-8]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Ben Rekaya, M., Messaoud, O., Talmoudi, F., Nouira, S., Ouragini, H., Amouri, A., Boussen, H., Boubaker, S., Mokni, M., Mokthar, I., Abdelhak, S., Zghal, M.
|
|
<strong>High frequency of the V548A fs X572 XPC mutation in Tunisia: implication for molecular diagnosis.</strong>
|
|
J. Hum. Genet. 54: 426-429, 2009.
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[PubMed: 19478817]
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[Full Text: https://doi.org/10.1038/jhg.2009.50]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Chavanne, F., Broughton, B. C., Pietra, D., Nardo, T., Browitt, A., Lehmann, A. R., Stefanini, M.
|
|
<strong>Mutations in the XPC gene in families with xeroderma pigmentosum and consequences at the cell, protein, and transcript levels.</strong>
|
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Cancer Res. 60: 1974-1982, 2000.
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[PubMed: 10766188]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Cheo, D. L., Burns, D. K., Meira, L. B., Houle, J. F., Friedberg, E. C.
|
|
<strong>Mutational inactivation of the xeroderma pigmentosum group C gene confers predisposition to 2-acetylaminofluorene-induced liver and lung cancer and to spontaneous testicular cancer in Trp53 -/- mice.</strong>
|
|
Cancer Res. 59: 771-775, 1999.
|
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|
|
[PubMed: 10029060]
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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.
|
|
<strong>A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.</strong>
|
|
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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|
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<li>
|
|
<p class="mim-text-font">
|
|
Cleaver, J. E.
|
|
<strong>DNA repair in human xeroderma pigmentosum group C cells involves a different distribution of damaged sites in confluent and growing cells.</strong>
|
|
Nucleic Acids Res. 14: 8155-8165, 1986.
|
|
|
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|
|
[PubMed: 3774554]
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|
|
[Full Text: https://doi.org/10.1093/nar/14.20.8155]
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Emmert, S., Kobayashi, N., Khan, S. G., Kraemer, K. H.
|
|
<strong>The xeroderma pigmentosum group C gene leads to selective repair of cyclobutane pyrimidine dimers rather than 6-4 photoproducts.</strong>
|
|
Proc. Nat. Acad. Sci. 97: 2151-2156, 2000.
|
|
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|
|
|
[PubMed: 10681431]
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|
|
[Full Text: https://doi.org/10.1073/pnas.040559697]
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</p>
|
|
</li>
|
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<li>
|
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<p class="mim-text-font">
|
|
Gozukara, E. M., Khan, S. G., Metin, A., Emmert, S., Busch, D. B., Shahlavi, T., Coleman, D. M., Miller, M., Chinsomboon, N., Stefanini, M., Kraemer, K. H.
|
|
<strong>A stop codon in xeroderma pigmentosum group C families in Turkey and Italy: molecular genetic evidence for a common ancestor.</strong>
|
|
J. Invest. Derm. 117: 197-204, 2001.
|
|
|
|
|
|
[PubMed: 11511294]
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|
|
|
|
[Full Text: https://doi.org/10.1046/j.1523-1747.2001.01424.x]
|
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|
</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Hollander, M. C., Philburn, R. T., Patterson, A. D., Velasco-Miguel, S., Friedberg, E. C., Linnoila, R. I., Fornace, A. J., Jr.
|
|
<strong>Deletion of XPC leads to lung tumors in mice and is associated with early events in human lung carcinogenesis.</strong>
|
|
Proc. Nat. Acad. Sci. 102: 13200-13205, 2005.
|
|
|
|
|
|
[PubMed: 16141330]
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|
|
[Full Text: https://doi.org/10.1073/pnas.0503133102]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Khan, S. G., Levy, H. L., Legerski, R., Quackenbush, E., Reardon, J. T., Emmert, S., Sancar, A., Li, L., Schneider, T. D., Cleaver, J. E., Kraemer, K. H.
|
|
<strong>Xeroderma pigmentosum group C splice mutation associated with autism and hypoglycinemia.</strong>
|
|
J. Invest. Derm. 111: 791-796, 1998. Note: Erratum: J. Invest. Derm. 112: 402 only, 1999.
|
|
|
|
|
|
[PubMed: 9804340]
|
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|
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|
|
[Full Text: https://doi.org/10.1046/j.1523-1747.1998.00391.x]
|
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|
|
</p>
|
|
</li>
|
|
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<li>
|
|
<p class="mim-text-font">
|
|
Khan, S. G., Metin, A., Gozukara, E., Inui, H., Shahlavi, T., Muniz-Medina, V., Baker, C. C., Ueda, T., Aiken, J. R., Schneider, T. D., Kraemer, K. H.
|
|
<strong>Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk.</strong>
|
|
Hum. Molec. Genet. 13: 343-352, 2004.
|
|
|
|
|
|
[PubMed: 14662655]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddh026]
|
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Lalley, P. A., Diaz, J. A., Francis, A. A., Dunn, W. C., Regan, J. D.
|
|
<strong>The expression and chromosomal assignments of genes required for repair of UV-induced DNA damage.</strong>
|
|
Cytogenet. Cell Genet. 37: 516 only, 1984.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
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