5698 lines
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- *126340 - ERCC EXCISION REPAIR 2, TFIIH CORE COMPLEX HELICASE SUBUNIT; ERCC2
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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">*126340</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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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="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#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/126340">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</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=ENSG00000104884;t=ENST00000391945" 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=2068" 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=126340" 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=ENSG00000104884;t=ENST00000391945" 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_000400,NM_001130867,XM_011526611,XM_047438393,XR_001753633,XR_007066680" 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_000400" 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=126340" 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=00530&isoform_id=00530_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/ERCC2" 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/119540,296645,971453,15834617,17939382,21322260,30582605,34527746,82568960,83405523,83405926,119577745,119577746,194382496,195947407,768007305,1044329581,1388694396,2217319922,2324192856,2462563703,2462563705" 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/P18074" 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=2068" 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=ENSG00000104884;t=ENST00000391945" 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=ERCC2" 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=ERCC2" 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+2068" 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/ERCC2" 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:2068" 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/2068" 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=chr19&hgg_gene=ENST00000391945.10&hgg_start=45349837&hgg_end=45370573&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:3434" 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:3434" 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/ercc2" 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=126340[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=126340[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/ERCC2/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000104884" 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=ERCC2" 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=ERCC2" 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=ERCC2" 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="http://lovd.bx.psu.edu/home.php?select_db=ERCC2" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=ERCC2&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/PA27848" 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:3434" 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/FBgn0261850.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:95413" 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/ERCC2#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:95413" 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/2068/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=2068" 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=WBGene00021752;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040426-997" 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="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</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="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:126340" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2068" 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=ERCC2&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> 68637004<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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126340
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
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<span class="mim-font">
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ERCC EXCISION REPAIR 2, TFIIH CORE COMPLEX HELICASE SUBUNIT; ERCC2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; DNA REPAIR DEFECT EM9 OF CHINESE HAMSTER OVARY CELLS, COMPLEMENTATION OF; EM9<br />
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XPD GENE; XPD
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ERCC2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ERCC2</a></em></strong>
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</span>
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</p>
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/19/818?start=-3&limit=10&highlight=818">19q13.32</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr19:45349837-45370573&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'})">19:45,349,837-45,370,573</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
|
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
|
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<tr class="active">
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<th>
|
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Location
|
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</th>
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<th>
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Phenotype
|
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<span class="hidden-sm hidden-xs pull-right">
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19q13.32
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?Cerebrooculofacioskeletal syndrome 2
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Trichothiodystrophy 1, photosensitive
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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Xeroderma pigmentosum, group D
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>ERCC2 is a subunit of the TFIIH transcription/repair factor, which functions as a DNA helicase for nucleotide excision repair (<a href="#7" class="mim-tip-reference" title="Coin, F., Marinoni, J.-C., Rodolfo, C., Fribourg, S., Pedrini, A. M., Egly, J.-M. <strong>Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH.</strong> Nature Genet. 20: 184-188, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9771713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9771713</a>] [<a href="https://doi.org/10.1038/2491" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9771713">Coin et al., 1998</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9771713" 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="#40" class="mim-tip-reference" title="Weber, C. A., Salazar, E. P., Stewart, S. A., Thompson, L. H. <strong>Molecular cloning and biological characterization of a human gene, ERCC2, that corrects the nucleotide excision repair defect in CHO UV5 cells.</strong> Molec. Cell Biol. 8: 1137-1146, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2835663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2835663</a>] [<a href="https://doi.org/10.1128/mcb.8.3.1137-1146.1988" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2835663">Weber et al. (1988)</a> used the UV-sensitive Chinese hamster ovary (CHO) cell line UV5, which is defective in the incision step of nucleotide excision repair (NER), to identify and clone a complementing human gene, ERCC2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2835663" 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 a human fibroblast expression cDNA library to complement radiosensitivity in UV5 cells, followed by examining genomic DNA, <a href="#41" class="mim-tip-reference" title="Weber, C. A., Salazar, E. P., Stewart, S. A., Thompson, L. H. <strong>ERCC2: cDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast RAD3.</strong> EMBO J. 9: 1437-1447, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2184031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2184031</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1990.tb08260.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2184031">Weber et al. (1990)</a> identified full-length ERCC2. The deduced 760-amino acid protein has a calculated molecular mass of 86.9 kD. Comparison with yeast rad3 revealed a putative ATP-binding box, a DNA-binding box, and other domains common to the helicase superfamily. Within the conserved domains, ERCC2 and rad3 are 73.8% identical and 88.5% homologous. ERCC2 also has a highly basic 14-amino acid putative nuclear localization signal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2184031" 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="#11" class="mim-tip-reference" title="Flejter, W. L., McDaniel, L. D., Askari, M., Friedberg, E. C., Schultz, R. A. <strong>Characterization of a complex chromosomal rearrangement maps the locus for in vitro complementation of xeroderma pigmentosum group D to human chromosome band 19q13.</strong> Genes Chromosomes Cancer 5: 335-342, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1283322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1283322</a>] [<a href="https://doi.org/10.1002/gcc.2870050409" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1283322">Flejter et al. (1992)</a> demonstrated that the ERCC2 gene corrected the sensitivity to ultraviolet (UV) radiation and defective nucleotide excision repair in xeroderma pigmentosum cells of complementation group D (XPD; <a href="/entry/278730">278730</a>). The XPD cell line used in these studies was GM08207. They first demonstrated correction by the transfer of a rearranged human chromosome by the method of microcell-mediated chromosome transfer (MMCT). Then, having demonstrated that the rearranged chromosome involved human chromosomes 16 and 19, including the region of the latter chromosome containing the ERCC2 gene, they directly transferred a cosmid containing the ERCC2 gene into XPD cells and showed that UV resistance was conferred thereby. <a href="#12" class="mim-tip-reference" title="Flejter, W. L., McDaniel, L. D., Johns, D., Friedberg, E. C., Schultz, R. A. <strong>Correction of xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer: involvement of the human ERCC2 DNA repair gene.</strong> Proc. Nat. Acad. Sci. 89: 261-265, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1729695/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1729695</a>] [<a href="https://doi.org/10.1073/pnas.89.1.261" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1729695">Flejter et al. (1992)</a> further identified a single rearranged human chromosome, designated Tneo, that corrected the UV sensitivity and excision repair defect of XPD cells in culture. They went on to analyze the complex rearrangement involving material from chromosomes 16, 17, and 19 and showed that the 19q13.2-q13.3 region was included. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1283322+1729695" 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 ERCC2 gene is homologous to the RAD3 gene of the budding yeast Saccharomyces cerevisiae and the Rad15+ of the fission yeast Schizosaccharomyces pombe (<a href="#14" class="mim-tip-reference" title="Friedberg, E. C. <strong>Xeroderma pigmentosum, Cockayne's syndrome, helicases, and DNA repair: what's the relationship?</strong> Cell 71: 887-889, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1458537/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1458537</a>] [<a href="https://doi.org/10.1016/0092-8674(92)90384-o" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1458537">Friedberg, 1992</a>). <a href="#32" class="mim-tip-reference" title="Sung, P., Bailly, V., Weber, C., Thompson, L. H., Prakash, L., Prakash, S. <strong>Human xeroderma pigmentosum group D gene encodes a DNA helicase.</strong> Nature 365: 852-855, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8413672/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8413672</a>] [<a href="https://doi.org/10.1038/365852a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8413672">Sung et al. (1993)</a> purified the XPD protein to near homogeneity and showed that it possesses single-stranded DNA-dependent ATPase and DNA helicase activities. Expression of the human XPD gene in S. cerevisiae complemented the lethal defect of a mutation in the RAD3 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8413672+1458537" 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 most cases, patients with XPD and trichothiodystrophy (TTD; see <a href="/entry/601675">601675</a>) carry mutations in the carboxy-terminal domain of the XPD helicase, which is one of the subunits of the transcription/repair factor TFIIH. <a href="#7" class="mim-tip-reference" title="Coin, F., Marinoni, J.-C., Rodolfo, C., Fribourg, S., Pedrini, A. M., Egly, J.-M. <strong>Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH.</strong> Nature Genet. 20: 184-188, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9771713/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9771713</a>] [<a href="https://doi.org/10.1038/2491" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9771713">Coin et al. (1998)</a> demonstrated that XPD (ERCC2) interacts specifically with p44 (GTF2H2; <a href="/entry/601748">601748</a>), another subunit of TFIIH, and that this interaction results in the stimulation of 5-prime-to-3-prime helicase activity. Mutations in the XPD C-terminal domain, as found in most patients, prevent the interaction with p44, thus explaining the decrease in XPD helicase activity and the NER defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9771713" 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>Inherited mutations of the TFIIH helicase subunits XPB (ERCC3; <a href="/entry/133510">133510</a>) or XPD yield overlapping DNA repair and transcription syndromes. The high risk of cancer in these patients is not fully explained by the repair defect. The transcription defect, however, is subtle and more difficult to evaluate. <a href="#22" class="mim-tip-reference" title="Liu, J., Akoulitchev, S., Weber, A., Ge, H., Chuikov, S., Libutti, D., Wang, X. W., Conaway, J. W., Harris, C. C., Conaway, R. C., Reinberg, D., Levens, D. <strong>Defective interplay of activators and repressors with TFIIH in xeroderma pigmentosum.</strong> Cell 104: 353-363, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11239393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11239393</a>] [<a href="https://doi.org/10.1016/s0092-8674(01)00223-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11239393">Liu et al. (2001)</a> showed that XPB and XPD mutations block transcription activation by the FUSE-binding protein (FBP; <a href="/entry/603444">603444</a>), a regulator of MYC (<a href="/entry/190080">190080</a>) expression, and block repression by the FBP-interacting repressor (FIR; <a href="/entry/604819">604819</a>). Through TFIIH, FBP facilitates transcription until promoter escape, whereas after initiation, FIR uses TFIIH to delay promoter escape. Mutations in TFIIH that impair regulation by FBP and FIR affect proper regulation of MYC expression and have implications in the development of malignancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11239393" 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 cells derived from XPD patients, <a href="#17" class="mim-tip-reference" title="Keriel, A., Stary, A., Sarasin, A., Rochette-Egly, C., Egly, J.-M. <strong>XPD mutations prevent TFIIH-dependent transactivation by nuclear receptors and phosphorylation of RAR-alpha.</strong> Cell 109: 125-135, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11955452/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11955452</a>] [<a href="https://doi.org/10.1016/s0092-8674(02)00692-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11955452">Keriel et al. (2002)</a> observed a reduction of the ligand-dependent transactivation mediated by several nuclear receptors: retinoic acid receptor-alpha (RARA; <a href="/entry/180240">180240</a>), estrogen receptor-alpha (<a href="/entry/133430">133430</a>), and androgen receptor (<a href="/entry/313700">313700</a>). They demonstrated that the XPD mutation alters cyclin-dependent kinase-7 (CDK7; <a href="/entry/601955">601955</a>) function in RARA phosphorylation. Transactivation was restored upon overexpression of either wildtype XPD or RARA containing a ser77-to-glu (S77E) mutation, which mimics phosphorylated RARA. Thus, the authors demonstrated that the CDK7 kinase of TFIIH phosphorylates the nuclear receptor, allowing ligand-dependent control of the activation of the hormone-responsive genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11955452" 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 CDK-activating kinase, or CAK complex, consists of CDK7 cyclin H (CCNH; <a href="/entry/601953">601953</a>) and MAT1 (MNAT1; <a href="/entry/602659">602659</a>). As the kinase subunit of TFIIH, CDK7 participates in basal transcription by phosphorylating the carboxy-terminal domain of the largest subunit of RNA polymerase II. As part of CAK, CDK7 also phosphorylates other CDKs, an essential step for their activation. <a href="#5" class="mim-tip-reference" title="Chen, J., Larochelle, S., Li, X., Suter, B. <strong>Xpd/Ercc2 regulates CAK activity and mitotic progression.</strong> Nature 424: 228-232, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12853965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12853965</a>] [<a href="https://doi.org/10.1038/nature01746" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12853965">Chen et al. (2003)</a> showed that the Drosophila TFIIH component Xpd, whose human homolog is ERCC2, negatively regulates the cell cycle function of Cdk7, the CAK activity. Excess Xpd titrated CAK activity, resulting in decreased Cdk T-loop phosphorylation, mitotic defects, and lethality, whereas a decrease in Xpd resulted in increased CAK activity and cell proliferation. Moreover, <a href="#5" class="mim-tip-reference" title="Chen, J., Larochelle, S., Li, X., Suter, B. <strong>Xpd/Ercc2 regulates CAK activity and mitotic progression.</strong> Nature 424: 228-232, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12853965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12853965</a>] [<a href="https://doi.org/10.1038/nature01746" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12853965">Chen et al. (2003)</a> showed that Xpd is downregulated at the beginning of mitosis when Cdk1 (<a href="/entry/116940">116940</a>), a cell cycle target of Cdk7, is most active. Downregulation of Xpd thus seems to contribute to the upregulation of mitotic CAK activity and to regulate mitotic progression positively. <a href="#5" class="mim-tip-reference" title="Chen, J., Larochelle, S., Li, X., Suter, B. <strong>Xpd/Ercc2 regulates CAK activity and mitotic progression.</strong> Nature 424: 228-232, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12853965/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12853965</a>] [<a href="https://doi.org/10.1038/nature01746" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12853965">Chen et al. (2003)</a> concluded that the downregulation of Xpd might be a major mechanism of mitotic silencing of basal transcription. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12853965" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#42" class="mim-tip-reference" title="Yoder, K., Sarasin, A., Kraemer, K., McIlhatton, M., Bushman, F., Fishel, R. <strong>The DNA repair genes XPB and XPD defend cells from retroviral infection.</strong> Proc. Nat. Acad. Sci. 103: 4622-4627, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16537383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16537383</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16537383[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.0509828103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16537383">Yoder et al. (2006)</a> showed that transduction by human immunodeficiency virus (HIV) or Moloney murine leukemia virus was substantially greater in XPB or XPD mutant cells than in isogenic complemented cells or XPA (<a href="/entry/611153">611153</a>) mutant cells. The difference in transduction efficiency was not due to apoptosis. <a href="#42" class="mim-tip-reference" title="Yoder, K., Sarasin, A., Kraemer, K., McIlhatton, M., Bushman, F., Fishel, R. <strong>The DNA repair genes XPB and XPD defend cells from retroviral infection.</strong> Proc. Nat. Acad. Sci. 103: 4622-4627, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16537383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16537383</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16537383[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.0509828103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16537383">Yoder et al. (2006)</a> concluded that XPB and XPD reduce retroviral integration efficiency by enhancing degradation of retroviral cDNA, thereby reducing the available pool of cDNA molecules for integration. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16537383" 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="#28" class="mim-tip-reference" title="Rudolf, J., Makrantoni, V., Ingledew, W. J., Stark, M. J. R., White, M. F. <strong>The DNA repair helicases XPD and FancJ have essential iron-sulfur domains.</strong> Molec. Cell 23: 801-808, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16973432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16973432</a>] [<a href="https://doi.org/10.1016/j.molcel.2006.07.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16973432">Rudolf et al. (2006)</a> identified a conserved domain that includes an iron-sulfur (Fe-S) cluster near the N termini of XPD and FANCJ (BRIP1; <a href="/entry/605882">605882</a>). Three absolutely conserved cysteines provide ligands for the Fe-S cluster, and <a href="#28" class="mim-tip-reference" title="Rudolf, J., Makrantoni, V., Ingledew, W. J., Stark, M. J. R., White, M. F. <strong>The DNA repair helicases XPD and FancJ have essential iron-sulfur domains.</strong> Molec. Cell 23: 801-808, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16973432/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16973432</a>] [<a href="https://doi.org/10.1016/j.molcel.2006.07.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16973432">Rudolf et al. (2006)</a> showed that the cluster is essential for XPD helicase activity. Yeast strains harboring mutations in the Fe-S domain of Rad3 retained their overall fold and stability and could hydrolyze ATP in a single-stranded DNA-dependent manner, but they were defective in nucleotide excision repair of UV-induced damage. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16973432" 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="#25" class="mim-tip-reference" title="Orioli, D., Compe, E., Nardo, T., Mura, M., Giraudon, C., Botta, E., Arrigoni, L., Peverali, F. A., Egly, J. M., Stefanini, M. <strong>XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression.</strong> Hum. Molec. Genet. 22: 1061-1073, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23221806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23221806</a>] [<a href="https://doi.org/10.1093/hmg/dds508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23221806">Orioli et al. (2013)</a> found that skin of TTD patients with mutations in the ERCC2 gene had reduced content of COL6A1 (<a href="/entry/120220">120220</a>), an abundant collagen of skin and connective tissue. In culture, dermal fibroblasts from TTD patients failed to induce COL6A1 upon achieving confluence. XPD skin and cultured XPD fibroblasts with mutations in the ERCC2 gene did not show the same defects. Transfection of wildtype ERCC2 into TTD patient fibroblasts permitted induction of COL6A1 upon confluence. In silico analysis identified a putative SREBP1 (<a href="/entry/184756">184756</a>)-binding site in the COL6A1 promoter, and deletion of this site resulted in increased transcriptional activity from the COL6A1 promoter. Overexpression of wildtype ERCC2 in TTD patient fibroblasts resulted in RNA polymerase II and SP1 (<a href="/entry/189906">189906</a>) occupancy at the COL6A1 promoter, concomitant with loss of SREBP1 binding. Removal of SREBP1 from the COL6A1 promoter was also dependent on ATP hydrolysis. <a href="#25" class="mim-tip-reference" title="Orioli, D., Compe, E., Nardo, T., Mura, M., Giraudon, C., Botta, E., Arrigoni, L., Peverali, F. A., Egly, J. M., Stefanini, M. <strong>XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression.</strong> Hum. Molec. Genet. 22: 1061-1073, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23221806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23221806</a>] [<a href="https://doi.org/10.1093/hmg/dds508" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23221806">Orioli et al. (2013)</a> concluded that ERCC2 in the TFIIH helicase removes SREBP1 from the COL6A1 promoter in an ATP-dependent manner and that, in TTD fibroblasts, mutated ERCC2 fails to displace the SREBP1 repressor from the COL6A1 promoter, resulting in inability to effect COL6A1 transcriptional upregulation in response to cell confluence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23221806" 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="#13" class="mim-tip-reference" title="Frederick, G. D., Amirkhan, R. H., Schultz, R. A., Friedberg, E. C. <strong>Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.</strong> Hum. Molec. Genet. 3: 1783-1788, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7849702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7849702</a>] [<a href="https://doi.org/10.1093/hmg/3.10.1783" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7849702">Frederick et al. (1994)</a> characterized the genomic structure of the XPD (ERCC2) gene and found that it contains 23 exons ranging in size from 5 bp (exon 1) to 169 bp (exon 11). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7849702" 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="#41" class="mim-tip-reference" title="Weber, C. A., Salazar, E. P., Stewart, S. A., Thompson, L. H. <strong>ERCC2: cDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast RAD3.</strong> EMBO J. 9: 1437-1447, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2184031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2184031</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1990.tb08260.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2184031">Weber et al. (1990)</a> determined that the 5-prime flanking region of the ERCC2 gene contains a classical TATA box, a reverse CAAT box, and a GC box. It also has a 34-base pyrimidine-rich region and a 12-base inverted repeat with 2 central bases of noncomplementarity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2184031" 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>By somatic cell hybridization, <a href="#29" class="mim-tip-reference" title="Siciliano, M. J., Carrano, A. V., Thompson, L. H. <strong>Chromosome 19 corrects two complementing DNA repair mutations present in CHO cells. (Abstract)</strong> Cytogenet. Cell Genet. 40: 744-745, 1985."None>Siciliano et al. (1985)</a> assigned to human chromosome 19 a gene that complements a DNA repair defect in Chinese hamster ovary (CHO) cells called EM9. A second DNA repair defect of CHO cells, UV20 (ERCC1; <a href="/entry/126380">126380</a>), was likewise corrected by human chromosome 19, which appears to be homologous to hamster chromosome 9; both contain GPI (<a href="/entry/172400">172400</a>) and PEPD (<a href="/entry/613230">613230</a>). In CHO cells, chromosome 9 is hemizygous. Thus, the findings probably indicate that 2 DNA repair genes are part of the homologous synteny group in these 2 species. By large fragment restriction enzyme site mapping, <a href="#24" class="mim-tip-reference" title="Mohrenweiser, H. W., Carrano, A. V., Fertitta, A., Perry, B., Thompson, L. H., Tucker, J. D., Weber, C. A. <strong>Refined mapping of the three DNA repair genes, ERCC1, ERCC2, and XRCC1, on human chromosome 19.</strong> Cytogenet. Cell Genet. 52: 11-14, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2558854/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2558854</a>] [<a href="https://doi.org/10.1159/000132829" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2558854">Mohrenweiser et al. (1989)</a> found that ERCC1 and ERCC2 are separated by less than 250 kb. Greatly increased sister chromatid exchanges are characteristic of EM9 cells (<a href="#37" class="mim-tip-reference" title="Thompson, L. H., Brookman, K. W., Dillehay, L. E., Carrano, A. V., Mazrimas, J. A., Mooney, C. L., Minkler, J. L. <strong>A CHO-cell strain having hypersensitivity to mutagens, a defect in DNA strand-break repair, and an extraordinary baseline frequency of sister-chromatid exchange.</strong> Mutat. Res. 95: 427-440, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6889677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6889677</a>] [<a href="https://doi.org/10.1016/0027-5107(82)90276-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6889677">Thompson et al., 1982</a>), as in Bloom syndrome (<a href="/entry/210900">210900</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2558854+6889677" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In cell lines from patients with xeroderma pigmentosum group D (XPD; <a href="/entry/278730">278730</a>), <a href="#13" class="mim-tip-reference" title="Frederick, G. D., Amirkhan, R. H., Schultz, R. A., Friedberg, E. C. <strong>Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.</strong> Hum. Molec. Genet. 3: 1783-1788, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7849702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7849702</a>] [<a href="https://doi.org/10.1093/hmg/3.10.1783" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7849702">Frederick et al. (1994)</a> identified mutations in the ERCC2 gene (<a href="#0001">126340.0001</a>-<a href="#0002">126340.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7849702" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Botta, E., Nardo, T., Broughton, B. C., Marinoni, S., Lehmann, A. R., Stefanini, M. <strong>Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.</strong> Am. J. Hum. Genet. 63: 1036-1048, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9758621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9758621</a>] [<a href="https://doi.org/10.1086/302063" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9758621">Botta et al. (1998)</a> determined the mutations and the pattern of inheritance of the XPD alleles in 11 patients with trichothiodystrophy identified in Italy. In all of the patients, the hair abnormalities diagnostic for TTD were associated with different disease severity but similar cellular photosensitivity. They identified 8 causative mutations, 4 of which had not previously been described, either in TTD or XP cases, supporting their hypothesis that the mutations responsible for TTD are different from those found in other pathologic phenotypes. The arg112-to-his (R112H; <a href="#0006">126340.0006</a>) mutation was the most common one found in the Italian patients, 5 of whom were homozygous and 2 heterozygous, for this mutation. Patients with this mutation had been reported by <a href="#1" class="mim-tip-reference" title="Battistella, P. A., Peserico, A. <strong>Central nervous system dysmyelination in PIBI(D)S syndrome: a further case.</strong> Childs Nerv. Syst. 12: 110-113, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8674078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8674078</a>] [<a href="https://doi.org/10.1007/BF00819509" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8674078">Battistella and Peserico (1996)</a>, <a href="#23" class="mim-tip-reference" title="Marinoni, S., Gaeta, G., Not, T., Freschi, P., Trevisan, G., Briscik, E., Giliani, S., et al. <strong>Early recognition of trichothiodystrophy with xeroderma pigmentosum group D mutation in a collodion baby. In: Panconesi, E. (ed.): Dermatology in Europe.</strong> Oxford: Blackwell Scientific 1991. Pp. 632-633."None>Marinoni et al. (1991)</a>, <a href="#30" class="mim-tip-reference" title="Stefanini, M., Giliani, S., Nardo, T., Marinoni, S., Nazzaro, V., Rizzo, R., Trevisan, G. <strong>DNA repair investigations in nine Italian patients affected by trichothiodystrophy.</strong> Mutat. Res. 273: 119-125, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1372095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1372095</a>] [<a href="https://doi.org/10.1016/0921-8777(92)90073-c" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1372095">Stefanini et al. (1992)</a>, <a href="#26" class="mim-tip-reference" title="Peserico, A., Battistella, P. A., Bertoli, P. <strong>MRI of a very rare hereditary ectodermal dysplasia: PIBI(D)S.</strong> Neuroradiology 34: 316-317, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1528442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1528442</a>] [<a href="https://doi.org/10.1007/BF00588190" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1528442">Peserico et al. (1992)</a>, and <a href="#31" class="mim-tip-reference" title="Stefanini, M., Lagomarsini, P., Giliani, S., Nardo, T., Botta, E., Peserico, A., Kleijer, W. J., Lehmann, A. R., Sarasin, A. <strong>Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.</strong> Carcinogenesis 14: 1101-1105, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8508495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8508495</a>] [<a href="https://doi.org/10.1093/carcin/14.6.1101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8508495">Stefanini et al. (1993)</a>. Microscopic study of the hair showed pili torti, trichoschisis, and trichorrhexis nodosa. Polarization microscopy revealed a typical appearance of alternating light and dark bands, giving a 'tiger tail' pattern. Photosensitivity was reported in all patients, in association with the other symptoms typical of TTD, namely, ichthyosis, delayed physical and mental development, nail dysplasia, a face characterized by receding chin, small nose, and large ears, and microcephaly. Seven patients were still alive at ages 4 to 30 years; the 4 patients who died during early infancy showed severe physical and mental retardation and suffered from frequent respiratory infections. The 3 oldest patients, all women, aged 30, 20, and 21 years, had moderate mental and physical handicaps. They developed freckles during childhood, but progression to malignancy had not been observed. They had short stature (140 cm), began to menstruate at age 18 years, and were no longer prone to infections, although they suffered moderate infections during early childhood. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8674078+8508495+1372095+1528442+9758621" 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="#18" class="mim-tip-reference" title="Kleijer, W. J., Beemer, F. A., Boom, B. W. <strong>Intermittent hair loss in a child with PIBI(D)S syndrome and trichothiodystrophy with defective DNA repair-xeroderma pigmentosum group D.</strong> Am. J. Med. Genet. 52: 227-230, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7802014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7802014</a>] [<a href="https://doi.org/10.1002/ajmg.1320520220" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7802014">Kleijer et al. (1994)</a> described a trichothiodystrophy patient (TTD1RO) with unusual additional features: during repeated episodes of pneumonia, she lost all her 'brittle' hair in 1 or 2 days, though it did regrow to the usual length after recovery. Concomitantly, her skin symptoms showed a transient, reversible deterioration. The patient was found by <a href="#34" class="mim-tip-reference" title="Takayama, K., Salazar, E. P., Broughton, B. C., Lehmann, A. R., Sarasin, A., Thompson, L. H., Weber, C. A. <strong>Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.</strong> Am. J. Hum. Genet. 58: 263-270, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8571952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8571952</a>]" pmid="8571952">Takayama et al. (1996)</a> to carry 2 unique point mutations in XPD: an arg658-to-cys (R658C; <a href="#0007">126340.0007</a>) amino acid substitution on one allele and a gly713-to-arg (G713R; <a href="#0008">126340.0008</a>) change on the other. In a screening of various TTD cases, <a href="#38" class="mim-tip-reference" title="Vermeulen, W., Rademakers, S., Jaspers, N. G. J., Appeldoorn, E., Raams, A., Klein, B., Kleijer, W. J., Hansen, L. K., Hoeijmakers, J. H. J. <strong>A temperature-sensitive disorder in basal transcription and DNA repair in humans.</strong> Nature Genet. 27: 299-303, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11242112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11242112</a>] [<a href="https://doi.org/10.1038/85864" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11242112">Vermeulen et al. (2001)</a> detected the R658C mutation in a female patient (TTD1DOD) of different ethnic background who was previously reported by <a href="#16" class="mim-tip-reference" title="Hansen, L. K., Wulff, K., Brandrup, F. <strong>[Trichothiodystrophy: hair examination as a diagnostic tool].</strong> Ugeskr. Laeger 155: 1949-1952, 1993. Note: Article in Danish.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8317059/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8317059</a>]" pmid="8317059">Hansen et al. (1993)</a>. In conditions of high fever, she also exhibited unusual sudden hair loss, and her signs of ataxia were transiently aggravated. An affected brother and a patient from a related family showed the same manifestations. Thus, the R658C change was the phenotype-determining allele. <a href="#38" class="mim-tip-reference" title="Vermeulen, W., Rademakers, S., Jaspers, N. G. J., Appeldoorn, E., Raams, A., Klein, B., Kleijer, W. J., Hansen, L. K., Hoeijmakers, J. H. J. <strong>A temperature-sensitive disorder in basal transcription and DNA repair in humans.</strong> Nature Genet. 27: 299-303, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11242112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11242112</a>] [<a href="https://doi.org/10.1038/85864" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11242112">Vermeulen et al. (2001)</a> found that cells from these patients show an in vivo temperature-sensitive defect of transcription and DNA repair due to thermoinstability of TFIIH. <a href="#38" class="mim-tip-reference" title="Vermeulen, W., Rademakers, S., Jaspers, N. G. J., Appeldoorn, E., Raams, A., Klein, B., Kleijer, W. J., Hansen, L. K., Hoeijmakers, J. H. J. <strong>A temperature-sensitive disorder in basal transcription and DNA repair in humans.</strong> Nature Genet. 27: 299-303, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11242112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11242112</a>] [<a href="https://doi.org/10.1038/85864" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11242112">Vermeulen et al. (2001)</a> noted that temperature-sensitive mutations with manifestations associated with fever have been described rarely: see, e.g., hemoglobin Zurich (<a href="/entry/141900#0310">141900.0310</a>) and antithrombin-III Rouen VI (<a href="/entry/107300#0046">107300.0046</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8317059+7802014+11242112+8571952" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Broughton, B. C., Berneburg, M., Fawcett, H., Taylor, E. M., Arlett, C. F., Nardo, T., Stefanini, M., Menefee, E., Price, V. H., Queille, S., Sarasin, A., Bohnert, E., Krutmann, J., Davidson, R., Kraemer, K. H., Lehmann, A. R. <strong>Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.</strong> Hum. Molec. Genet. 10: 2539-2547, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11709541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11709541</a>] [<a href="https://doi.org/10.1093/hmg/10.22.2539" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11709541">Broughton et al. (2001)</a> identified 2 patients with some features of both XP and TTD. A 3-year-old girl with sun sensitivity and mental and physical developmental delay was compound heterozygous for mutations in the ERCC2 gene (<a href="#0011">126340.0011</a>-<a href="#0012">126340.0012</a>). Cultured cells from this patient demonstrated barely detectable levels of nucleotide excision repair. The other patient, a 28-year-old woman with sun sensitivity, pigmentation changes, and skin cancers typical of XP, had an arg112-to-his mutation (R112H; <a href="#0006">126340.0006</a>), seen previously in TTD patients, on one allele and a leu485-to-pro mutation (L485P; <a href="#0013">126340.0013</a>) on the other allele. The level of UV damage repair in the second patient was substantially higher than that in other patients with the same mutation. In both patients, polarized light microscopy revealed a tiger-tail appearance of the hair, and amino acid analysis of the hairshafts showed levels of sulfur-containing proteins between those of normal and TTD individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11709541" 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="#15" class="mim-tip-reference" title="Graham, J. M., Jr., Anyane-Yeboa, K., Raams, A., Appeldoorn, E., Kleijer, W. J., Garritsen, V. H., Busch, D., Edersheim, T. G., Jaspers, N. G. J. <strong>Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.</strong> Am. J. Hum. Genet. 69: 291-300, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11443545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11443545</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11443545[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/321295" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11443545">Graham et al. (2001)</a> reported involvement of the ERCC2 gene in a case of UV-sensitive COFS syndrome (<a href="/entry/214150">214150</a>), with compound heterozygosity for an arg616-to-trp null mutation (R616W; <a href="#0010">126340.0010</a>), previously found in a patient with XPD by <a href="#36" class="mim-tip-reference" title="Taylor, E. M., Broughton, B. C., Botta, E., Stefanini, M., Sarasin, A., Jaspers, N. G. J., Fawcett, H., Harcourt, S. A., Arlett, C. F., Lehmann, A. R. <strong>Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.</strong> Proc. Nat. Acad. Sci. 94: 8658-8663, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9238033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9238033</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9238033[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.94.16.8658" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9238033">Taylor et al. (1997)</a>, and a novel asp681-to-asn mutation (D681N; <a href="#0009">126340.0009</a>). They demonstrated, in a triplet pregnancy and in a subsequent singleton pregnancy, how the findings of abnormal DNA repair could be used for prenatal diagnosis of COFS syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11443545+9238033" 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 5 XPD cell strains tested, <a href="#20" class="mim-tip-reference" title="Kobayashi, T., Uchiyama, M., Fukuro, S., Tanaka, K. <strong>Mutations in the XPD gene in xeroderma pigmentosum group D cell strains: confirmation of genotype-phenotype correlation.</strong> Am. J. Med. Genet. 110: 248-252, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12116233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12116233</a>] [<a href="https://doi.org/10.1002/ajmg.10465" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12116233">Kobayashi et al. (2002)</a> identified 6 positive disease-causing mutations in the ERCC2 gene. Each cell line was a compound heterozygote with different mutations. In each, 1 allele was thought to be functionally null and the other was a less severe allele with 3 mutations. The second allele in each strain was specific to the XP phenotype. <a href="#20" class="mim-tip-reference" title="Kobayashi, T., Uchiyama, M., Fukuro, S., Tanaka, K. <strong>Mutations in the XPD gene in xeroderma pigmentosum group D cell strains: confirmation of genotype-phenotype correlation.</strong> Am. J. Med. Genet. 110: 248-252, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12116233/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12116233</a>] [<a href="https://doi.org/10.1002/ajmg.10465" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12116233">Kobayashi et al. (2002)</a> interpreted the results as consistent with the hypothesis that the site of mutation in the ERCC2 gene determines the clinical phenotype, XP or TTD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12116233" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#39" class="mim-tip-reference" title="Viprakasit, V., Gibbons, R. J., Broughton, B. C., Tolmie, J. L., Brown, D., Lunt, P., Winter, R. M., Marinoni, S., Stefanini, M., Brueton, L., Lehmann, A. R., Higgs, D. R. <strong>Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy.</strong> Hum. Molec. Genet. 10: 2797-2802, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11734544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11734544</a>] [<a href="https://doi.org/10.1093/hmg/10.24.2797" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11734544">Viprakasit et al. (2001)</a> showed that the specific mutations in the ERCC2 gene that cause TTD result in reduced expression of the beta-globin (HBB; <a href="/entry/141900">141900</a>) genes in these individuals. Eleven TTD patients with characterized mutations in the XPD gene were found to have the hematologic features of beta-thalassemia trait, and reduced levels of beta-globin synthesis and beta-globin mRNA. All of these parameters were normal in 3 patients with XP. The authors hypothesized that many of the clinical features of TTD may result from inadequate expression of a diverse set of highly expressed genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11734544" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Reviews</em></strong></p><p>
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<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> tabulated the very large number of mutations that had been identified in the XPD gene in patients with diverse phenotypes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10447254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#36" class="mim-tip-reference" title="Taylor, E. M., Broughton, B. C., Botta, E., Stefanini, M., Sarasin, A., Jaspers, N. G. J., Fawcett, H., Harcourt, S. A., Arlett, C. F., Lehmann, A. R. <strong>Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.</strong> Proc. Nat. Acad. Sci. 94: 8658-8663, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9238033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9238033</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9238033[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.94.16.8658" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9238033">Taylor et al. (1997)</a> identified the mutations in a large group of TTD and XPD patients to determine if the clinical phenotypes of XP and TTD could be attributed to the sites of the mutations. Most sites of mutations differed between XP and TTD, but there were 3 sites at which the same mutation was found in XP and TTD patients. Since the corresponding patients were all compound heterozygotes with different mutations in the 2 alleles, the alleles were tested separately in a yeast complementation assay. The mutations that were found in both XP and TTD patients behaved as null alleles, suggesting that the disease phenotype was determined by the other allele. When <a href="#36" class="mim-tip-reference" title="Taylor, E. M., Broughton, B. C., Botta, E., Stefanini, M., Sarasin, A., Jaspers, N. G. J., Fawcett, H., Harcourt, S. A., Arlett, C. F., Lehmann, A. R. <strong>Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.</strong> Proc. Nat. Acad. Sci. 94: 8658-8663, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9238033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9238033</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9238033[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.94.16.8658" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9238033">Taylor et al. (1997)</a> eliminated the null mutations, the remaining mutagenic pattern was consistent with the site of the mutation determining the phenotype. Changes at arg683 were clearly associated with XP, whereas arg112his, arg722trp, and changes at arg658 appeared to be associated with TTD. They cited unpublished observations of a TTD patient of Turkish origin who was homozygous for the arg658cys change previously found in 1 allele of a TTD patient, suggesting that this allele is sufficient for the TTD phenotype. The 6 mutational changes of arginine residues observed at these 4 sites were all C-to-T or G-to-A mutations at CpG sites, which are presumed to result from deamination of 5-methylcytosine to thymine. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9238033" 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="Petrini, J. H. J. <strong>When more is better.</strong> Nature Genet. 26: 257-258, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11062454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11062454</a>] [<a href="https://doi.org/10.1038/81529" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11062454">Petrini (2000)</a> and <a href="#21" class="mim-tip-reference" title="Lehmann, A. R. <strong>The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases.</strong> Genes Dev. 15: 15-23, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11156600/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11156600</a>] [<a href="https://doi.org/10.1101/gad.859501" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11156600">Lehmann (2001)</a> noted that the diversity of clinical outcomes associated with XPD and XPB mutations appeared to be explained by allele-specific mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11156600+11062454" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#9" class="mim-tip-reference" title="de Boer, J., de Wit, J., van Steeg, H., Berg, R. J. W., Morreau, H., Visser, P., Lehmann, A. R., Duran, M., Hoeijmakers, J. H. J., Weeda, G. <strong>A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy.</strong> Molec. Cell 1: 981-990, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9651581/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9651581</a>] [<a href="https://doi.org/10.1016/s1097-2765(00)80098-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9651581">De Boer et al. (1998)</a> generated a mouse model for trichothiodystrophy by gene-cDNA fusion targeting and introduction of the ERCC2/XPD arg722-to-trp (R722W; <a href="#0014">126340.0014</a>) mutation in the mouse, thereby mimicking the causative XPD point mutation of a TTD patient. TTD R722W/R722W mice reflect to a remarkable extent the human disorder, including brittle hair, developmental abnormalities, reduced life span, UV sensitivity, and skin abnormalities. The cutaneous symptoms are associated with reduced transcription of a skin-specific gene, SPRR2 (<a href="/entry/182267">182267</a>), strongly supporting the concept of TTD as a human disease due to inborn defects in basal transcription and DNA repair. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9651581" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="de Boer, J., Andressoo, J. O., de Wit, J., Huijmans, J., Beems, R. B., van Steeg, H., Weeda, G., van der Horst, G. T. J., van Leeuwen, W., Themmen, A. P. N., Meradji, M., Hoeijmakers, J. H. J. <strong>Premature aging in mice deficient in DNA repair and transcription.</strong> Science 296: 1276-1279, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11950998/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11950998</a>] [<a href="https://doi.org/10.1126/science.1070174" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11950998">De Boer et al. (2002)</a> found that mice with the R722W mutation in ERCC2 had many symptoms of premature aging, including osteoporosis and kyphosis, osteosclerosis, early graying, cachexia, infertility, and reduced life span. TTD mice carrying an additional mutation in XPA, which enhances the DNA repair defect, showed a greatly accelerated aging phenotype, which correlated with an increased cellular sensitivity to oxidative DNA damage. <a href="#8" class="mim-tip-reference" title="de Boer, J., Andressoo, J. O., de Wit, J., Huijmans, J., Beems, R. B., van Steeg, H., Weeda, G., van der Horst, G. T. J., van Leeuwen, W., Themmen, A. P. N., Meradji, M., Hoeijmakers, J. H. J. <strong>Premature aging in mice deficient in DNA repair and transcription.</strong> Science 296: 1276-1279, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11950998/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11950998</a>] [<a href="https://doi.org/10.1126/science.1070174" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11950998">De Boer et al. (2002)</a> hypothesized that aging in TTD mice is caused by unrepaired DNA damage that compromises transcription, leading to functional inactivation of critical genes and enhanced apoptosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11950998" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000018267 OR RCV000120764 OR RCV000171546 OR RCV000897210 OR RCV002256001 OR RCV002513097 OR RCV003123387" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018267, RCV000120764, RCV000171546, RCV000897210, RCV002256001, RCV002513097, RCV003123387" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018267...</a>
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<p><strong><em>Xeroderma Pigmentosum, Complementation Group D</em></strong></p><p>
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In cell line GM436 from a patient with xeroderma pigmentosum complementation group D (XPD; <a href="/entry/278730">278730</a>), <a href="#13" class="mim-tip-reference" title="Frederick, G. D., Amirkhan, R. H., Schultz, R. A., Friedberg, E. C. <strong>Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.</strong> Hum. Molec. Genet. 3: 1783-1788, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7849702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7849702</a>] [<a href="https://doi.org/10.1093/hmg/3.10.1783" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7849702">Frederick et al. (1994)</a> identified a 1411C-G transversion in the ERCC2 gene, predicted to result in a leu461-to-val (L461V) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7849702" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Trichothiodystrophy 1, Photosensitive</em></strong></p><p>
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<a href="#33" class="mim-tip-reference" title="Takayama, K., Danks, D. M., Salazar, E. P., Cleaver, J. E., Weber, C. A. <strong>DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.</strong> Hum. Mutat. 9: 519-525, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9195225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9195225</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:6<519::AID-HUMU4>3.0.CO;2-X" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9195225">Takayama et al. (1997)</a> studied a male patient with typical features of trichothiodystrophy (TTD1; <a href="/entry/601675">601675</a>), including brittle hair, ichthyosis, characteristic face with receding chin and protruding ears, sun sensitivity, and mental and growth retardation. The relative amount of nucleotide excision repair (NER) carried out by a fibroblast cell strain from the patient after ultraviolet exposure was approximately 65% of normal as determined by a method that converted repair patches into quantifiable DNA breaks. UV survival curves showed a reduction in survival only at doses greater than 4 joules per square meter. Sequence analysis of the ERCC2 gene showed a leu461-to-val (L461V; <a href="#0001">126340.0001</a>) substitution and a deletion of amino acids 716-730 on one allele and an ala725-to-pro (A725P; <a href="#0003">126340.0003</a>) substitution on the other allele. The L461V mutation had been reported in a patient with xeroderma pigmentosum group D by <a href="#13" class="mim-tip-reference" title="Frederick, G. D., Amirkhan, R. H., Schultz, R. A., Friedberg, E. C. <strong>Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.</strong> Hum. Molec. Genet. 3: 1783-1788, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7849702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7849702</a>] [<a href="https://doi.org/10.1093/hmg/3.10.1783" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7849702">Frederick et al. (1994)</a> and in 2 other trichothiodystrophy patients (see <a href="#34" class="mim-tip-reference" title="Takayama, K., Salazar, E. P., Broughton, B. C., Lehmann, A. R., Sarasin, A., Thompson, L. H., Weber, C. A. <strong>Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.</strong> Am. J. Hum. Genet. 58: 263-270, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8571952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8571952</a>]" pmid="8571952">Takayama et al., 1996</a>), whereas the A725P mutation had not previously been reported. Comparisons suggested that the A725P mutation correlated with TTD with intermediate UV sensitivity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9195225+7849702+8571952" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121913017 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913017;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/rs121913017?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=rs121913017" 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=rs121913017" 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=RCV000018269" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018269" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018269</a>
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<p>In cell line XP67MA from a patient with xeroderma pigmentosum complementation group D (XPD; <a href="/entry/278730">278730</a>), <a href="#13" class="mim-tip-reference" title="Frederick, G. D., Amirkhan, R. H., Schultz, R. A., Friedberg, E. C. <strong>Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.</strong> Hum. Molec. Genet. 3: 1783-1788, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7849702/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7849702</a>] [<a href="https://doi.org/10.1093/hmg/3.10.1783" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7849702">Frederick et al. (1994)</a> identified a 2176C-T transition in exon 22 of the ERCC2 gene, changing codon 726 from CAG (gln) to TAG (stop). The mutation was predicted to produce a protein truncated by 34 amino acids. Although expression of the normal XPD cDNA could be shown to correct the UV sensitivity phenotype in XPD cells, cDNA constructs bearing either this or the L461V mutation (<a href="#0001">126340.0001</a>) failed to yield complementation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7849702" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121913018 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913018;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/rs121913018?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=rs121913018" 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=rs121913018" 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=RCV000018270 OR RCV001851906 OR RCV002490383 OR RCV003155035 OR RCV003343601 OR RCV003460482" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018270, RCV001851906, RCV002490383, RCV003155035, RCV003343601, RCV003460482" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018270...</a>
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<p>For discussion of the ala725-to-pro (A725P) mutation in the ERCC2 gene that was found in compound heterozygous state in a patient with photosensitive trichothiodystrophy (TTD1; <a href="/entry/601675">601675</a>) by <a href="#33" class="mim-tip-reference" title="Takayama, K., Danks, D. M., Salazar, E. P., Cleaver, J. E., Weber, C. A. <strong>DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.</strong> Hum. Mutat. 9: 519-525, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9195225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9195225</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:6<519::AID-HUMU4>3.0.CO;2-X" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9195225">Takayama et al. (1997)</a>, see <a href="#0001">126340.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9195225" 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 D</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> rs767747355 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs767747355;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/rs767747355?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=rs767747355" 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=rs767747355" 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=RCV002266015 OR RCV003464133 OR RCV003560844" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV002266015, RCV003464133, RCV003560844" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV002266015...</a>
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<p><a href="#19" class="mim-tip-reference" title="Kobayashi, T., Kuraoka, I., Saijo, M., Nakatsu, Y., Tanaka, A., Someda, Y., Fukuro, S., Tanaka, K. <strong>Mutations in the XPD gene leading to xeroderma pigmentosum symptoms.</strong> Hum. Mutat. 9: 322-331, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9101292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9101292</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:4<322::AID-HUMU4>3.0.CO;2-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9101292">Kobayashi et al. (1997)</a> reported 2 causative mutations of the XPD gene in a Japanese patient with xeroderma pigmentosum complementation group D (XPD; <a href="/entry/278730">278730</a>) and only mild skin symptoms of the disorder, without Cockayne syndrome, trichothiodystrophy, or other neurologic complications. One of the mutations in this compound heterozygote was a 4-bp deletion at nucleotides 668 to 671, resulting in frameshift and premature termination. The other was a nucleotide substitution leading to conversion of serine-541 to arginine (S541R; <a href="#0005">126340.0005</a>) in helicase domain IV of the XPD protein. The patient's father was heterozygous for the deletion, whereas the mother was heterozygous for the S541R mutation. An expression study showed that the XPD cDNA containing the deletion or the S541R missense mutation failed to restore UV sensitivity of XPD cells, whereas the wildtype XPD cDNA restored it to the normal level. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9101292" 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 D</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> rs121913019 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913019;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/rs121913019?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=rs121913019" 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=rs121913019" 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=RCV000018272" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018272" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018272</a>
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<p>For discussion of the ser541-to-arg (S541R) mutation in the XPD gene that was found in compound heterozygous state in a patient with xeroderma pigmentosum complementation group D (XPD; <a href="/entry/278730">278730</a>) by <a href="#19" class="mim-tip-reference" title="Kobayashi, T., Kuraoka, I., Saijo, M., Nakatsu, Y., Tanaka, A., Someda, Y., Fukuro, S., Tanaka, K. <strong>Mutations in the XPD gene leading to xeroderma pigmentosum symptoms.</strong> Hum. Mutat. 9: 322-331, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9101292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9101292</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1997)9:4<322::AID-HUMU4>3.0.CO;2-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9101292">Kobayashi et al. (1997)</a>, see <a href="#0004">126340.0004</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9101292" 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>.0006 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE</strong>
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XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D, INCLUDED
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ERCC2, ARG112HIS
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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> rs121913020 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913020;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/rs121913020?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=rs121913020" 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=rs121913020" 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=RCV000018273 OR RCV000018274 OR RCV000424822 OR RCV003466865" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018273, RCV000018274, RCV000424822, RCV003466865" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018273...</a>
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<p><strong><em>Trichothiodystrophy 1, Photosensitive</em></strong></p><p>
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Of 11 reported Italian patients with photosensitive trichothiodystrophy-1 (TTD1; <a href="/entry/601675">601675</a>), <a href="#2" class="mim-tip-reference" title="Botta, E., Nardo, T., Broughton, B. C., Marinoni, S., Lehmann, A. R., Stefanini, M. <strong>Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy: site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.</strong> Am. J. Hum. Genet. 63: 1036-1048, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9758621/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9758621</a>] [<a href="https://doi.org/10.1086/302063" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9758621">Botta et al. (1998)</a> noted that 5 were homozygous for an arg112-to-his (R112H) mutation in the ERCC2 gene and 2 were compound heterozygous. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9758621" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Xeroderma Pigmentosum, Complementation Group D</em></strong></p><p>
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<a href="#3" class="mim-tip-reference" title="Broughton, B. C., Berneburg, M., Fawcett, H., Taylor, E. M., Arlett, C. F., Nardo, T., Stefanini, M., Menefee, E., Price, V. H., Queille, S., Sarasin, A., Bohnert, E., Krutmann, J., Davidson, R., Kraemer, K. H., Lehmann, A. R. <strong>Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.</strong> Hum. Molec. Genet. 10: 2539-2547, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11709541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11709541</a>] [<a href="https://doi.org/10.1093/hmg/10.22.2539" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11709541">Broughton et al. (2001)</a> described a 28-year-old woman with sun sensitivity, pigmentation changes, and skin cancers typical of xeroderma pigmentosum complementation group D (XPD; <a href="/entry/278730">278730</a>). Mutation analysis revealed compound heterozygous mutations in the ERCC2 gene: the R112H mutation and a leu485-to-pro (L485P; <a href="#0003">126340.0003</a>) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11709541" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121913021 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913021;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/rs121913021?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=rs121913021" 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=rs121913021" 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=RCV000018275 OR RCV002482884 OR RCV002513098 OR RCV003153304 OR RCV003460483" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018275, RCV002482884, RCV002513098, RCV003153304, RCV003460483" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018275...</a>
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<p>In a girl with photosensitive trichothiodystrophy-1 (TTD1; <a href="/entry/601675">601675</a>), <a href="#34" class="mim-tip-reference" title="Takayama, K., Salazar, E. P., Broughton, B. C., Lehmann, A. R., Sarasin, A., Thompson, L. H., Weber, C. A. <strong>Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.</strong> Am. J. Hum. Genet. 58: 263-270, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8571952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8571952</a>]" pmid="8571952">Takayama et al. (1996)</a> found a C-to-T transition at nucleotide position 2050 of the ERCC2 gene, resulting in an arg658-to-cys amino acid change (R658C). The causative mutation on the other allele was identified as gly713-to-arg (G713R; <a href="#0008">126340.0008</a>). Ichthyosis and loss of scalp hair occurred intermittently in the patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8571952" 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 2 patients with trichothiodystrophy with the unusual additional feature of aggravation during fever, <a href="#38" class="mim-tip-reference" title="Vermeulen, W., Rademakers, S., Jaspers, N. G. J., Appeldoorn, E., Raams, A., Klein, B., Kleijer, W. J., Hansen, L. K., Hoeijmakers, J. H. J. <strong>A temperature-sensitive disorder in basal transcription and DNA repair in humans.</strong> Nature Genet. 27: 299-303, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11242112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11242112</a>] [<a href="https://doi.org/10.1038/85864" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11242112">Vermeulen et al. (2001)</a> found an R658C mutation in the ERCC2 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11242112" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs121913022 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913022;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=rs121913022" 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=rs121913022" 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=RCV000018276 OR RCV003230368" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018276, RCV003230368" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018276...</a>
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<p>In a girl with photosensitive trichothiodystrophy-1 (TTD1; <a href="/entry/601675">601675</a>), <a href="#34" class="mim-tip-reference" title="Takayama, K., Salazar, E. P., Broughton, B. C., Lehmann, A. R., Sarasin, A., Thompson, L. H., Weber, C. A. <strong>Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.</strong> Am. J. Hum. Genet. 58: 263-270, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8571952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8571952</a>]" pmid="8571952">Takayama et al. (1996)</a> found a G-to-C transversion at nucleotide position 2215 of the ERCC2 gene, resulting in a gly713-to-arg amino acid substitution. They identified this mutation in compound heterozygous state with R658C (<a href="#0007">126340.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8571952" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0009 CEREBROOCULOFACIOSKELETAL SYNDROME 2 (1 patient)</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> rs121913023 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913023;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/rs121913023?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=rs121913023" 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=rs121913023" 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=RCV000018277 OR RCV003114198 OR RCV003488344" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018277, RCV003114198, RCV003488344" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018277...</a>
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<p><a href="#15" class="mim-tip-reference" title="Graham, J. M., Jr., Anyane-Yeboa, K., Raams, A., Appeldoorn, E., Kleijer, W. J., Garritsen, V. H., Busch, D., Edersheim, T. G., Jaspers, N. G. J. <strong>Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.</strong> Am. J. Hum. Genet. 69: 291-300, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11443545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11443545</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11443545[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/321295" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11443545">Graham et al. (2001)</a> described a patient with cerebrooculofacioskeletal syndrome-2 (COFS2; <a href="/entry/610756">610756</a>) who was compound heterozygous for 2 mutations in the ERCC2 gene: an arg616-to-trp null mutation (R616W; <a href="#0010">126340.0010</a>) and a novel asp681-to-asn (D681N) mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11443545" 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>.0010 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D</strong>
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CEREBROOCULOFACIOSKELETAL SYNDROME 2, INCLUDED (1 patient)
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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> rs121913024 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913024;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/rs121913024?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=rs121913024" 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=rs121913024" 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=RCV000018278 OR RCV000171547 OR RCV001582486 OR RCV002468972 OR RCV005016278" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018278, RCV000171547, RCV001582486, RCV002468972, RCV005016278" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018278...</a>
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<p><strong><em>Xeroderma Pigmentosum, Complementation Group D</em></strong></p><p>
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In cell line XP1DU from a patient with xeroderma pigmentosum complementation group D (XPD; <a href="/entry/278730">278730</a>), <a href="#36" class="mim-tip-reference" title="Taylor, E. M., Broughton, B. C., Botta, E., Stefanini, M., Sarasin, A., Jaspers, N. G. J., Fawcett, H., Harcourt, S. A., Arlett, C. F., Lehmann, A. R. <strong>Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.</strong> Proc. Nat. Acad. Sci. 94: 8658-8663, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9238033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9238033</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9238033[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.94.16.8658" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9238033">Taylor et al. (1997)</a> identified compound heterozygous mutations in the ERCC2 gene: an arg616-to-trp substitution (R616W) and an arg683-to-trp (R683W; <a href="#0015">126340.0015</a>) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9238033" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Cerebrooculofacioskeletal Syndrome 2</em></strong></p><p>
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For discussion of the R616W mutation in the ERCC2 gene that was found in compound heterozygous state in a patient with cerebrooculofacioskeletal syndrome-2 (COFS2; <a href="/entry/610756">610756</a>) by <a href="#15" class="mim-tip-reference" title="Graham, J. M., Jr., Anyane-Yeboa, K., Raams, A., Appeldoorn, E., Kleijer, W. J., Garritsen, V. H., Busch, D., Edersheim, T. G., Jaspers, N. G. J. <strong>Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.</strong> Am. J. Hum. Genet. 69: 291-300, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11443545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11443545</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11443545[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/321295" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11443545">Graham et al. (2001)</a>, see <a href="#0009">126340.0009</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11443545" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs587778271 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587778271;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/rs587778271?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=rs587778271" 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=rs587778271" 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=RCV000120767 OR RCV000778548 OR RCV001008079 OR RCV002498561 OR RCV003230409 OR RCV003343649 OR RCV003444202 OR RCV003467077 OR RCV004529999" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000120767, RCV000778548, RCV001008079, RCV002498561, RCV003230409, RCV003343649, RCV003444202, RCV003467077, RCV004529999" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000120767...</a>
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<p><a href="#3" class="mim-tip-reference" title="Broughton, B. C., Berneburg, M., Fawcett, H., Taylor, E. M., Arlett, C. F., Nardo, T., Stefanini, M., Menefee, E., Price, V. H., Queille, S., Sarasin, A., Bohnert, E., Krutmann, J., Davidson, R., Kraemer, K. H., Lehmann, A. R. <strong>Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.</strong> Hum. Molec. Genet. 10: 2539-2547, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11709541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11709541</a>] [<a href="https://doi.org/10.1093/hmg/10.22.2539" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11709541">Broughton et al. (2001)</a> described a 3-year-old girl with sun sensitivity and mental and physical developmental delay (XPD; <a href="/entry/278730">278730</a>) who was compound heterozygous for mutations in the ERCC2 gene: a deletion of dinucleotide TT at 1781-1782, resulting in a frameshift and an immediate stop codon, and a complex alteration with deletion of trinucleotide AGA at 1823-1825 and insertion of TTTCGG at this site (<a href="#0012">126340.0012</a>). The latter resulted in an in-frame alteration of codons 582 and 583 plus the addition of a glutamate residue after codon 583 adjacent to the helicase domain V. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11709541" 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>.0012 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D</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">rs2123229159 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2123229159;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=rs2123229159" 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=rs2123229159" 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=RCV000018281" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018281" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018281</a>
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<p>For discussion of the ins/del mutation in the ERCC2 gene that was found in compound heterozygous state in a patient with xeroderma pigmentosum complementation group D (XPD; <a href="/entry/278730">278730</a>) by <a href="#3" class="mim-tip-reference" title="Broughton, B. C., Berneburg, M., Fawcett, H., Taylor, E. M., Arlett, C. F., Nardo, T., Stefanini, M., Menefee, E., Price, V. H., Queille, S., Sarasin, A., Bohnert, E., Krutmann, J., Davidson, R., Kraemer, K. H., Lehmann, A. R. <strong>Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.</strong> Hum. Molec. Genet. 10: 2539-2547, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11709541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11709541</a>] [<a href="https://doi.org/10.1093/hmg/10.22.2539" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11709541">Broughton et al. (2001)</a>, see <a href="#0011">126340.0011</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11709541" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0013 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D</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">rs121913025 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913025;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=rs121913025" 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=rs121913025" 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=RCV000018282" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018282" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018282</a>
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<p><a href="#3" class="mim-tip-reference" title="Broughton, B. C., Berneburg, M., Fawcett, H., Taylor, E. M., Arlett, C. F., Nardo, T., Stefanini, M., Menefee, E., Price, V. H., Queille, S., Sarasin, A., Bohnert, E., Krutmann, J., Davidson, R., Kraemer, K. H., Lehmann, A. R. <strong>Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene.</strong> Hum. Molec. Genet. 10: 2539-2547, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11709541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11709541</a>] [<a href="https://doi.org/10.1093/hmg/10.22.2539" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11709541">Broughton et al. (2001)</a> described a 28-year-old woman with sun sensitivity, pigmentation changes, and skin cancers typical of xeroderma pigmentosum complementation group D (XPD; <a href="/entry/278730">278730</a>). Mutation analysis revealed compound heterozygous mutations in the ERCC2 gene: an arg112-to-his mutation (R112H; <a href="#0006">126340.0006</a>), which was previously found in patients with photosensitive trichothiodystrophy, and a leu485-to-pro (L485P) mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11709541" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0014 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE</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> rs121913026 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913026;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/rs121913026?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=rs121913026" 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=rs121913026" 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=RCV000018283 OR RCV000255624 OR RCV000677676 OR RCV000763052 OR RCV001199920 OR RCV001449816 OR RCV004532382" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018283, RCV000255624, RCV000677676, RCV000763052, RCV001199920, RCV001449816, RCV004532382" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018283...</a>
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<p>In a patient with photosensitive trichothiodystrophy-1 (TTD1; <a href="/entry/601675">601675</a>), <a href="#4" class="mim-tip-reference" title="Broughton, B. C., Steingrimsdottir, H., Weber, C. A., Lehmann, A. R. <strong>Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy.</strong> Nature Genet. 7: 189-194, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7920640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7920640</a>] [<a href="https://doi.org/10.1038/ng0694-189" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7920640">Broughton et al. (1994)</a> found a homozygous C-to-T transition at nucleotide 2166 in the ERCC2 gene that resulted in an arg722-to-trp (R722W) amino acid substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7920640" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs41556519 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs41556519;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/rs41556519?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=rs41556519" 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=rs41556519" 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=RCV000018284 OR RCV000518900 OR RCV000623275 OR RCV000763053 OR RCV003460484" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018284, RCV000518900, RCV000623275, RCV000763053, RCV003460484" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018284...</a>
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<p>In patients with xeroderma pigmentosum complementation group D (XPD; <a href="/entry/278730">278730</a>), <a href="#35" class="mim-tip-reference" title="Takayama, K., Salazar, E. P., Lehmann, A., Stefanini, M., Thompson, L. H., Weber, C. A. <strong>Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.</strong> Cancer Res. 55: 5656-5663, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7585650/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7585650</a>]" pmid="7585650">Takayama et al. (1995)</a> identified a C-to-T transition at nucleotide 2125 of the ERCC2 gene, resulting in an arg683-to-trp (R683W) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7585650" 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="Drane, P., Compe, E., Catez, P., Chymkowitch, P., Egly, J.-M. <strong>Selective regulation of vitamin D receptor-responsive genes by TFIIH.</strong> Molec. Cell 16: 187-197, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15494306/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15494306</a>] [<a href="https://doi.org/10.1016/j.molcel.2004.10.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15494306">Drane et al. (2004)</a> found that fibroblasts from XPD patients with the R683W mutation failed to upregulate CYP24 (CYP24A1; <a href="/entry/126065">126065</a>) in response to vitamin D, whereas upregulation of osteopontin (SPP1; <a href="/entry/166490">166490</a>) was normal. They demonstrated that the R683W mutation interfered with phosphorylation of ETS1 (<a href="/entry/164720">164720</a>) by TFIIH, which prevented binding of liganded vitamin D receptor (VDR; <a href="/entry/601769">601769</a>) on the CYP24 promoter and proper assembly of the transcriptional machinery on this promoter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15494306" 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>Central nervous system dysmyelination in PIBI(D)S syndrome: a further case.</strong>
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Childs Nerv. Syst. 12: 110-113, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8674078/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8674078</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8674078" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00819509" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9238033/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9238033</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9238033[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9238033" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.94.16.8658" target="_blank">Full Text</a>]
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</p>
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</li>
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<li>
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<a id="37" class="mim-anchor"></a>
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<a id="Thompson1982" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Thompson, L. H., Brookman, K. W., Dillehay, L. E., Carrano, A. V., Mazrimas, J. A., Mooney, C. L., Minkler, J. L.
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|
<strong>A CHO-cell strain having hypersensitivity to mutagens, a defect in DNA strand-break repair, and an extraordinary baseline frequency of sister-chromatid exchange.</strong>
|
|
Mutat. Res. 95: 427-440, 1982.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6889677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6889677</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6889677" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0027-5107(82)90276-7" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="38" class="mim-anchor"></a>
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<a id="Vermeulen2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vermeulen, W., Rademakers, S., Jaspers, N. G. J., Appeldoorn, E., Raams, A., Klein, B., Kleijer, W. J., Hansen, L. K., Hoeijmakers, J. H. J.
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|
<strong>A temperature-sensitive disorder in basal transcription and DNA repair in humans.</strong>
|
|
Nature Genet. 27: 299-303, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11242112/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11242112</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11242112" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/85864" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="39" class="mim-anchor"></a>
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<a id="Viprakasit2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Viprakasit, V., Gibbons, R. J., Broughton, B. C., Tolmie, J. L., Brown, D., Lunt, P., Winter, R. M., Marinoni, S., Stefanini, M., Brueton, L., Lehmann, A. R., Higgs, D. R.
|
|
<strong>Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy.</strong>
|
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Hum. Molec. Genet. 10: 2797-2802, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11734544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11734544</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11734544" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/10.24.2797" target="_blank">Full Text</a>]
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<li>
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<a id="40" class="mim-anchor"></a>
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<a id="Weber1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weber, C. A., Salazar, E. P., Stewart, S. A., Thompson, L. H.
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<strong>Molecular cloning and biological characterization of a human gene, ERCC2, that corrects the nucleotide excision repair defect in CHO UV5 cells.</strong>
|
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Molec. Cell Biol. 8: 1137-1146, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2835663/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2835663</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2835663" 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/10.1128/mcb.8.3.1137-1146.1988" target="_blank">Full Text</a>]
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<li>
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<a id="41" class="mim-anchor"></a>
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<a id="Weber1990" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Weber, C. A., Salazar, E. P., Stewart, S. A., Thompson, L. H.
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<strong>ERCC2: cDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast RAD3.</strong>
|
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EMBO J. 9: 1437-1447, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2184031/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2184031</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2184031" 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/j.1460-2075.1990.tb08260.x" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="42" class="mim-anchor"></a>
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<a id="Yoder2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yoder, K., Sarasin, A., Kraemer, K., McIlhatton, M., Bushman, F., Fishel, R.
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<strong>The DNA repair genes XPB and XPD defend cells from retroviral infection.</strong>
|
|
Proc. Nat. Acad. Sci. 103: 4622-4627, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16537383/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16537383</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16537383[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16537383" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.0509828103" target="_blank">Full Text</a>]
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</p>
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</ol>
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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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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Carol A. Bocchini - updated : 02/27/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 10/26/2016<br>Patricia A. Hartz - updated : 1/12/2007<br>Patricia A. Hartz - updated : 5/3/2006<br>Paul J. Converse - updated : 4/5/2006<br>Marla J. F. O'Neill - updated : 4/4/2006<br>Ada Hamosh - updated : 8/4/2003<br>Ada Hamosh - updated : 4/3/2003<br>George E. Tiller - updated : 10/15/2002<br>Victor A. McKusick - updated : 7/2/2002<br>George E. Tiller - updated : 5/13/2002<br>Victor A. McKusick - updated : 8/30/2001<br>Stylianos E. Antonarakis - updated : 3/8/2001<br>Victor A. McKusick - updated : 2/28/2001<br>Victor A. McKusick - updated : 10/27/2000<br>Victor A. McKusick - updated : 7/21/1999<br>Victor A. McKusick - updated : 10/23/1998<br>Victor A. McKusick - updated : 9/24/1998<br>Stylianos E. Antonarakis - updated : 8/3/1998<br>Victor A. McKusick - updated : 9/5/1997<br>Victor A. McKusick - updated : 6/23/1997
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/27/2024
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/22/2022<br>carol : 09/19/2022<br>carol : 09/17/2022<br>carol : 04/25/2017<br>alopez : 10/26/2016<br>carol : 08/09/2016<br>alopez : 09/25/2015<br>ckniffin : 9/23/2015<br>mcolton : 6/3/2015<br>carol : 6/2/2015<br>carol : 5/29/2015<br>carol : 5/29/2015<br>mcolton : 5/29/2015<br>carol : 5/29/2015<br>carol : 2/29/2012<br>carol : 2/29/2012<br>carol : 1/26/2010<br>carol : 7/13/2007<br>carol : 7/12/2007<br>alopez : 2/12/2007<br>mgross : 1/12/2007<br>mgross : 6/7/2006<br>mgross : 6/7/2006<br>terry : 5/3/2006<br>mgross : 4/5/2006<br>carol : 4/4/2006<br>carol : 7/7/2004<br>alopez : 8/6/2003<br>terry : 8/4/2003<br>alopez : 4/4/2003<br>alopez : 4/4/2003<br>terry : 4/3/2003<br>cwells : 10/15/2002<br>cwells : 7/17/2002<br>cwells : 7/15/2002<br>terry : 7/2/2002<br>joanna : 5/28/2002<br>cwells : 5/17/2002<br>cwells : 5/13/2002<br>cwells : 10/18/2001<br>cwells : 9/20/2001<br>cwells : 9/12/2001<br>terry : 8/30/2001<br>mgross : 3/8/2001<br>alopez : 3/8/2001<br>alopez : 3/1/2001<br>alopez : 3/1/2001<br>terry : 2/28/2001<br>alopez : 10/31/2000<br>terry : 10/27/2000<br>terry : 7/21/1999<br>carol : 10/26/1998<br>terry : 10/23/1998<br>alopez : 9/29/1998<br>carol : 9/24/1998<br>carol : 8/4/1998<br>terry : 8/3/1998<br>terry : 8/3/1998<br>terry : 9/12/1997<br>terry : 9/5/1997<br>alopez : 7/7/1997<br>jenny : 6/27/1997<br>jenny : 6/23/1997<br>mark : 2/21/1997<br>mark : 8/7/1996<br>terry : 8/6/1996<br>mark : 2/22/1996<br>terry : 2/19/1996<br>carol : 12/13/1994<br>mimadm : 6/25/1994<br>carol : 12/6/1993<br>carol : 1/21/1993<br>carol : 12/17/1992<br>supermim : 3/16/1992
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</span>
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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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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 126340
|
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</span>
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</h3>
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</div>
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<div>
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<h3>
|
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<span class="mim-font">
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ERCC EXCISION REPAIR 2, TFIIH CORE COMPLEX HELICASE SUBUNIT; ERCC2
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
|
EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 2; DNA REPAIR DEFECT EM9 OF CHINESE HAMSTER OVARY CELLS, COMPLEMENTATION OF; EM9<br />
|
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XPD GENE; XPD
|
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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: ERCC2</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> 68637004;
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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: 19q13.32
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Genomic coordinates <span class="small">(GRCh38)</span> : 19:45,349,837-45,370,573 </span>
|
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</em>
|
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</strong>
|
|
<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>
|
|
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="3">
|
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<span class="mim-font">
|
|
19q13.32
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
?Cerebrooculofacioskeletal syndrome 2
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
610756
|
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
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">
|
|
3
|
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</span>
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</td>
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</tr>
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<tr>
|
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<td>
|
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<span class="mim-font">
|
|
Trichothiodystrophy 1, photosensitive
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
601675
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
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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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Xeroderma pigmentosum, group D
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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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278730
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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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<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>ERCC2 is a subunit of the TFIIH transcription/repair factor, which functions as a DNA helicase for nucleotide excision repair (Coin et al., 1998). </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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<span class="mim-text-font">
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<p>Weber et al. (1988) used the UV-sensitive Chinese hamster ovary (CHO) cell line UV5, which is defective in the incision step of nucleotide excision repair (NER), to identify and clone a complementing human gene, ERCC2. </p><p>Using a human fibroblast expression cDNA library to complement radiosensitivity in UV5 cells, followed by examining genomic DNA, Weber et al. (1990) identified full-length ERCC2. The deduced 760-amino acid protein has a calculated molecular mass of 86.9 kD. Comparison with yeast rad3 revealed a putative ATP-binding box, a DNA-binding box, and other domains common to the helicase superfamily. Within the conserved domains, ERCC2 and rad3 are 73.8% identical and 88.5% homologous. ERCC2 also has a highly basic 14-amino acid putative nuclear localization signal. </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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<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>Flejter et al. (1992) demonstrated that the ERCC2 gene corrected the sensitivity to ultraviolet (UV) radiation and defective nucleotide excision repair in xeroderma pigmentosum cells of complementation group D (XPD; 278730). The XPD cell line used in these studies was GM08207. They first demonstrated correction by the transfer of a rearranged human chromosome by the method of microcell-mediated chromosome transfer (MMCT). Then, having demonstrated that the rearranged chromosome involved human chromosomes 16 and 19, including the region of the latter chromosome containing the ERCC2 gene, they directly transferred a cosmid containing the ERCC2 gene into XPD cells and showed that UV resistance was conferred thereby. Flejter et al. (1992) further identified a single rearranged human chromosome, designated Tneo, that corrected the UV sensitivity and excision repair defect of XPD cells in culture. They went on to analyze the complex rearrangement involving material from chromosomes 16, 17, and 19 and showed that the 19q13.2-q13.3 region was included. </p><p>The ERCC2 gene is homologous to the RAD3 gene of the budding yeast Saccharomyces cerevisiae and the Rad15+ of the fission yeast Schizosaccharomyces pombe (Friedberg, 1992). Sung et al. (1993) purified the XPD protein to near homogeneity and showed that it possesses single-stranded DNA-dependent ATPase and DNA helicase activities. Expression of the human XPD gene in S. cerevisiae complemented the lethal defect of a mutation in the RAD3 gene. </p><p>In most cases, patients with XPD and trichothiodystrophy (TTD; see 601675) carry mutations in the carboxy-terminal domain of the XPD helicase, which is one of the subunits of the transcription/repair factor TFIIH. Coin et al. (1998) demonstrated that XPD (ERCC2) interacts specifically with p44 (GTF2H2; 601748), another subunit of TFIIH, and that this interaction results in the stimulation of 5-prime-to-3-prime helicase activity. Mutations in the XPD C-terminal domain, as found in most patients, prevent the interaction with p44, thus explaining the decrease in XPD helicase activity and the NER defect. </p><p>Inherited mutations of the TFIIH helicase subunits XPB (ERCC3; 133510) or XPD yield overlapping DNA repair and transcription syndromes. The high risk of cancer in these patients is not fully explained by the repair defect. The transcription defect, however, is subtle and more difficult to evaluate. Liu et al. (2001) showed that XPB and XPD mutations block transcription activation by the FUSE-binding protein (FBP; 603444), a regulator of MYC (190080) expression, and block repression by the FBP-interacting repressor (FIR; 604819). Through TFIIH, FBP facilitates transcription until promoter escape, whereas after initiation, FIR uses TFIIH to delay promoter escape. Mutations in TFIIH that impair regulation by FBP and FIR affect proper regulation of MYC expression and have implications in the development of malignancy. </p><p>In cells derived from XPD patients, Keriel et al. (2002) observed a reduction of the ligand-dependent transactivation mediated by several nuclear receptors: retinoic acid receptor-alpha (RARA; 180240), estrogen receptor-alpha (133430), and androgen receptor (313700). They demonstrated that the XPD mutation alters cyclin-dependent kinase-7 (CDK7; 601955) function in RARA phosphorylation. Transactivation was restored upon overexpression of either wildtype XPD or RARA containing a ser77-to-glu (S77E) mutation, which mimics phosphorylated RARA. Thus, the authors demonstrated that the CDK7 kinase of TFIIH phosphorylates the nuclear receptor, allowing ligand-dependent control of the activation of the hormone-responsive genes. </p><p>The CDK-activating kinase, or CAK complex, consists of CDK7 cyclin H (CCNH; 601953) and MAT1 (MNAT1; 602659). As the kinase subunit of TFIIH, CDK7 participates in basal transcription by phosphorylating the carboxy-terminal domain of the largest subunit of RNA polymerase II. As part of CAK, CDK7 also phosphorylates other CDKs, an essential step for their activation. Chen et al. (2003) showed that the Drosophila TFIIH component Xpd, whose human homolog is ERCC2, negatively regulates the cell cycle function of Cdk7, the CAK activity. Excess Xpd titrated CAK activity, resulting in decreased Cdk T-loop phosphorylation, mitotic defects, and lethality, whereas a decrease in Xpd resulted in increased CAK activity and cell proliferation. Moreover, Chen et al. (2003) showed that Xpd is downregulated at the beginning of mitosis when Cdk1 (116940), a cell cycle target of Cdk7, is most active. Downregulation of Xpd thus seems to contribute to the upregulation of mitotic CAK activity and to regulate mitotic progression positively. Chen et al. (2003) concluded that the downregulation of Xpd might be a major mechanism of mitotic silencing of basal transcription. </p><p>Yoder et al. (2006) showed that transduction by human immunodeficiency virus (HIV) or Moloney murine leukemia virus was substantially greater in XPB or XPD mutant cells than in isogenic complemented cells or XPA (611153) mutant cells. The difference in transduction efficiency was not due to apoptosis. Yoder et al. (2006) concluded that XPB and XPD reduce retroviral integration efficiency by enhancing degradation of retroviral cDNA, thereby reducing the available pool of cDNA molecules for integration. </p><p>Rudolf et al. (2006) identified a conserved domain that includes an iron-sulfur (Fe-S) cluster near the N termini of XPD and FANCJ (BRIP1; 605882). Three absolutely conserved cysteines provide ligands for the Fe-S cluster, and Rudolf et al. (2006) showed that the cluster is essential for XPD helicase activity. Yeast strains harboring mutations in the Fe-S domain of Rad3 retained their overall fold and stability and could hydrolyze ATP in a single-stranded DNA-dependent manner, but they were defective in nucleotide excision repair of UV-induced damage. </p><p>Orioli et al. (2013) found that skin of TTD patients with mutations in the ERCC2 gene had reduced content of COL6A1 (120220), an abundant collagen of skin and connective tissue. In culture, dermal fibroblasts from TTD patients failed to induce COL6A1 upon achieving confluence. XPD skin and cultured XPD fibroblasts with mutations in the ERCC2 gene did not show the same defects. Transfection of wildtype ERCC2 into TTD patient fibroblasts permitted induction of COL6A1 upon confluence. In silico analysis identified a putative SREBP1 (184756)-binding site in the COL6A1 promoter, and deletion of this site resulted in increased transcriptional activity from the COL6A1 promoter. Overexpression of wildtype ERCC2 in TTD patient fibroblasts resulted in RNA polymerase II and SP1 (189906) occupancy at the COL6A1 promoter, concomitant with loss of SREBP1 binding. Removal of SREBP1 from the COL6A1 promoter was also dependent on ATP hydrolysis. Orioli et al. (2013) concluded that ERCC2 in the TFIIH helicase removes SREBP1 from the COL6A1 promoter in an ATP-dependent manner and that, in TTD fibroblasts, mutated ERCC2 fails to displace the SREBP1 repressor from the COL6A1 promoter, resulting in inability to effect COL6A1 transcriptional upregulation in response to cell confluence. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Frederick et al. (1994) characterized the genomic structure of the XPD (ERCC2) gene and found that it contains 23 exons ranging in size from 5 bp (exon 1) to 169 bp (exon 11). </p><p>Weber et al. (1990) determined that the 5-prime flanking region of the ERCC2 gene contains a classical TATA box, a reverse CAAT box, and a GC box. It also has a 34-base pyrimidine-rich region and a 12-base inverted repeat with 2 central bases of noncomplementarity. </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>By somatic cell hybridization, Siciliano et al. (1985) assigned to human chromosome 19 a gene that complements a DNA repair defect in Chinese hamster ovary (CHO) cells called EM9. A second DNA repair defect of CHO cells, UV20 (ERCC1; 126380), was likewise corrected by human chromosome 19, which appears to be homologous to hamster chromosome 9; both contain GPI (172400) and PEPD (613230). In CHO cells, chromosome 9 is hemizygous. Thus, the findings probably indicate that 2 DNA repair genes are part of the homologous synteny group in these 2 species. By large fragment restriction enzyme site mapping, Mohrenweiser et al. (1989) found that ERCC1 and ERCC2 are separated by less than 250 kb. Greatly increased sister chromatid exchanges are characteristic of EM9 cells (Thompson et al., 1982), as in Bloom syndrome (210900). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In cell lines from patients with xeroderma pigmentosum group D (XPD; 278730), Frederick et al. (1994) identified mutations in the ERCC2 gene (126340.0001-126340.0002). </p><p>Botta et al. (1998) determined the mutations and the pattern of inheritance of the XPD alleles in 11 patients with trichothiodystrophy identified in Italy. In all of the patients, the hair abnormalities diagnostic for TTD were associated with different disease severity but similar cellular photosensitivity. They identified 8 causative mutations, 4 of which had not previously been described, either in TTD or XP cases, supporting their hypothesis that the mutations responsible for TTD are different from those found in other pathologic phenotypes. The arg112-to-his (R112H; 126340.0006) mutation was the most common one found in the Italian patients, 5 of whom were homozygous and 2 heterozygous, for this mutation. Patients with this mutation had been reported by Battistella and Peserico (1996), Marinoni et al. (1991), Stefanini et al. (1992), Peserico et al. (1992), and Stefanini et al. (1993). Microscopic study of the hair showed pili torti, trichoschisis, and trichorrhexis nodosa. Polarization microscopy revealed a typical appearance of alternating light and dark bands, giving a 'tiger tail' pattern. Photosensitivity was reported in all patients, in association with the other symptoms typical of TTD, namely, ichthyosis, delayed physical and mental development, nail dysplasia, a face characterized by receding chin, small nose, and large ears, and microcephaly. Seven patients were still alive at ages 4 to 30 years; the 4 patients who died during early infancy showed severe physical and mental retardation and suffered from frequent respiratory infections. The 3 oldest patients, all women, aged 30, 20, and 21 years, had moderate mental and physical handicaps. They developed freckles during childhood, but progression to malignancy had not been observed. They had short stature (140 cm), began to menstruate at age 18 years, and were no longer prone to infections, although they suffered moderate infections during early childhood. </p><p>Kleijer et al. (1994) described a trichothiodystrophy patient (TTD1RO) with unusual additional features: during repeated episodes of pneumonia, she lost all her 'brittle' hair in 1 or 2 days, though it did regrow to the usual length after recovery. Concomitantly, her skin symptoms showed a transient, reversible deterioration. The patient was found by Takayama et al. (1996) to carry 2 unique point mutations in XPD: an arg658-to-cys (R658C; 126340.0007) amino acid substitution on one allele and a gly713-to-arg (G713R; 126340.0008) change on the other. In a screening of various TTD cases, Vermeulen et al. (2001) detected the R658C mutation in a female patient (TTD1DOD) of different ethnic background who was previously reported by Hansen et al. (1993). In conditions of high fever, she also exhibited unusual sudden hair loss, and her signs of ataxia were transiently aggravated. An affected brother and a patient from a related family showed the same manifestations. Thus, the R658C change was the phenotype-determining allele. Vermeulen et al. (2001) found that cells from these patients show an in vivo temperature-sensitive defect of transcription and DNA repair due to thermoinstability of TFIIH. Vermeulen et al. (2001) noted that temperature-sensitive mutations with manifestations associated with fever have been described rarely: see, e.g., hemoglobin Zurich (141900.0310) and antithrombin-III Rouen VI (107300.0046). </p><p>Broughton et al. (2001) identified 2 patients with some features of both XP and TTD. A 3-year-old girl with sun sensitivity and mental and physical developmental delay was compound heterozygous for mutations in the ERCC2 gene (126340.0011-126340.0012). Cultured cells from this patient demonstrated barely detectable levels of nucleotide excision repair. The other patient, a 28-year-old woman with sun sensitivity, pigmentation changes, and skin cancers typical of XP, had an arg112-to-his mutation (R112H; 126340.0006), seen previously in TTD patients, on one allele and a leu485-to-pro mutation (L485P; 126340.0013) on the other allele. The level of UV damage repair in the second patient was substantially higher than that in other patients with the same mutation. In both patients, polarized light microscopy revealed a tiger-tail appearance of the hair, and amino acid analysis of the hairshafts showed levels of sulfur-containing proteins between those of normal and TTD individuals. </p><p>Graham et al. (2001) reported involvement of the ERCC2 gene in a case of UV-sensitive COFS syndrome (214150), with compound heterozygosity for an arg616-to-trp null mutation (R616W; 126340.0010), previously found in a patient with XPD by Taylor et al. (1997), and a novel asp681-to-asn mutation (D681N; 126340.0009). They demonstrated, in a triplet pregnancy and in a subsequent singleton pregnancy, how the findings of abnormal DNA repair could be used for prenatal diagnosis of COFS syndrome. </p><p>In 5 XPD cell strains tested, Kobayashi et al. (2002) identified 6 positive disease-causing mutations in the ERCC2 gene. Each cell line was a compound heterozygote with different mutations. In each, 1 allele was thought to be functionally null and the other was a less severe allele with 3 mutations. The second allele in each strain was specific to the XP phenotype. Kobayashi et al. (2002) interpreted the results as consistent with the hypothesis that the site of mutation in the ERCC2 gene determines the clinical phenotype, XP or TTD. </p><p>Viprakasit et al. (2001) showed that the specific mutations in the ERCC2 gene that cause TTD result in reduced expression of the beta-globin (HBB; 141900) genes in these individuals. Eleven TTD patients with characterized mutations in the XPD gene were found to have the hematologic features of beta-thalassemia trait, and reduced levels of beta-globin synthesis and beta-globin mRNA. All of these parameters were normal in 3 patients with XP. The authors hypothesized that many of the clinical features of TTD may result from inadequate expression of a diverse set of highly expressed genes. </p><p><strong><em>Reviews</em></strong></p><p>
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Cleaver et al. (1999) tabulated the very large number of mutations that had been identified in the XPD gene in patients with diverse phenotypes. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Genotype/Phenotype Correlations</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Taylor et al. (1997) identified the mutations in a large group of TTD and XPD patients to determine if the clinical phenotypes of XP and TTD could be attributed to the sites of the mutations. Most sites of mutations differed between XP and TTD, but there were 3 sites at which the same mutation was found in XP and TTD patients. Since the corresponding patients were all compound heterozygotes with different mutations in the 2 alleles, the alleles were tested separately in a yeast complementation assay. The mutations that were found in both XP and TTD patients behaved as null alleles, suggesting that the disease phenotype was determined by the other allele. When Taylor et al. (1997) eliminated the null mutations, the remaining mutagenic pattern was consistent with the site of the mutation determining the phenotype. Changes at arg683 were clearly associated with XP, whereas arg112his, arg722trp, and changes at arg658 appeared to be associated with TTD. They cited unpublished observations of a TTD patient of Turkish origin who was homozygous for the arg658cys change previously found in 1 allele of a TTD patient, suggesting that this allele is sufficient for the TTD phenotype. The 6 mutational changes of arginine residues observed at these 4 sites were all C-to-T or G-to-A mutations at CpG sites, which are presumed to result from deamination of 5-methylcytosine to thymine. </p><p>Petrini (2000) and Lehmann (2001) noted that the diversity of clinical outcomes associated with XPD and XPB mutations appeared to be explained by allele-specific mutations. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>De Boer et al. (1998) generated a mouse model for trichothiodystrophy by gene-cDNA fusion targeting and introduction of the ERCC2/XPD arg722-to-trp (R722W; 126340.0014) mutation in the mouse, thereby mimicking the causative XPD point mutation of a TTD patient. TTD R722W/R722W mice reflect to a remarkable extent the human disorder, including brittle hair, developmental abnormalities, reduced life span, UV sensitivity, and skin abnormalities. The cutaneous symptoms are associated with reduced transcription of a skin-specific gene, SPRR2 (182267), strongly supporting the concept of TTD as a human disease due to inborn defects in basal transcription and DNA repair. </p><p>De Boer et al. (2002) found that mice with the R722W mutation in ERCC2 had many symptoms of premature aging, including osteoporosis and kyphosis, osteosclerosis, early graying, cachexia, infertility, and reduced life span. TTD mice carrying an additional mutation in XPA, which enhances the DNA repair defect, showed a greatly accelerated aging phenotype, which correlated with an increased cellular sensitivity to oxidative DNA damage. De Boer et al. (2002) hypothesized that aging in TTD mice is caused by unrepaired DNA damage that compromises transcription, leading to functional inactivation of critical genes and enhanced apoptosis. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>15 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D</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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TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE, INCLUDED
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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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ERCC2, LEU461VAL
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<br />
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SNP: rs121913016,
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gnomAD: rs121913016,
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ClinVar: RCV000018267, RCV000120764, RCV000171546, RCV000897210, RCV002256001, RCV002513097, RCV003123387
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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 />
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<p><strong><em>Xeroderma Pigmentosum, Complementation Group D</em></strong></p><p>
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In cell line GM436 from a patient with xeroderma pigmentosum complementation group D (XPD; 278730), Frederick et al. (1994) identified a 1411C-G transversion in the ERCC2 gene, predicted to result in a leu461-to-val (L461V) substitution. </p><p><strong><em>Trichothiodystrophy 1, Photosensitive</em></strong></p><p>
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Takayama et al. (1997) studied a male patient with typical features of trichothiodystrophy (TTD1; 601675), including brittle hair, ichthyosis, characteristic face with receding chin and protruding ears, sun sensitivity, and mental and growth retardation. The relative amount of nucleotide excision repair (NER) carried out by a fibroblast cell strain from the patient after ultraviolet exposure was approximately 65% of normal as determined by a method that converted repair patches into quantifiable DNA breaks. UV survival curves showed a reduction in survival only at doses greater than 4 joules per square meter. Sequence analysis of the ERCC2 gene showed a leu461-to-val (L461V; 126340.0001) substitution and a deletion of amino acids 716-730 on one allele and an ala725-to-pro (A725P; 126340.0003) substitution on the other allele. The L461V mutation had been reported in a patient with xeroderma pigmentosum group D by Frederick et al. (1994) and in 2 other trichothiodystrophy patients (see Takayama et al., 1996), whereas the A725P mutation had not previously been reported. Comparisons suggested that the A725P mutation correlated with TTD with intermediate UV sensitivity. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D</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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ERCC2, GLN726TER
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<br />
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SNP: rs121913017,
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gnomAD: rs121913017,
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ClinVar: RCV000018269
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|
|
</span>
|
|
</div>
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In cell line XP67MA from a patient with xeroderma pigmentosum complementation group D (XPD; 278730), Frederick et al. (1994) identified a 2176C-T transition in exon 22 of the ERCC2 gene, changing codon 726 from CAG (gln) to TAG (stop). The mutation was predicted to produce a protein truncated by 34 amino acids. Although expression of the normal XPD cDNA could be shown to correct the UV sensitivity phenotype in XPD cells, cDNA constructs bearing either this or the L461V mutation (126340.0001) failed to yield complementation. </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
|
|
</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>.0003 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
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|
|
|
ERCC2, ALA725PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913018,
|
|
|
|
|
|
gnomAD: rs121913018,
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|
|
|
|
|
ClinVar: RCV000018270, RCV001851906, RCV002490383, RCV003155035, RCV003343601, RCV003460482
|
|
|
|
|
|
</span>
|
|
</div>
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|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the ala725-to-pro (A725P) mutation in the ERCC2 gene that was found in compound heterozygous state in a patient with photosensitive trichothiodystrophy (TTD1; 601675) by Takayama et al. (1997), see 126340.0001. </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
|
|
</div>
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|
</div>
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|
<div>
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
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|
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|
ERCC2, 4-BP DEL, NT668
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|
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|
|
|
<br />
|
|
|
|
SNP: rs767747355,
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|
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|
|
|
gnomAD: rs767747355,
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|
|
|
|
|
ClinVar: RCV002266015, RCV003464133, RCV003560844
|
|
|
|
|
|
</span>
|
|
</div>
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|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Kobayashi et al. (1997) reported 2 causative mutations of the XPD gene in a Japanese patient with xeroderma pigmentosum complementation group D (XPD; 278730) and only mild skin symptoms of the disorder, without Cockayne syndrome, trichothiodystrophy, or other neurologic complications. One of the mutations in this compound heterozygote was a 4-bp deletion at nucleotides 668 to 671, resulting in frameshift and premature termination. The other was a nucleotide substitution leading to conversion of serine-541 to arginine (S541R; 126340.0005) in helicase domain IV of the XPD protein. The patient's father was heterozygous for the deletion, whereas the mother was heterozygous for the S541R mutation. An expression study showed that the XPD cDNA containing the deletion or the S541R missense mutation failed to restore UV sensitivity of XPD cells, whereas the wildtype XPD cDNA restored it to the normal level. </p>
|
|
</span>
|
|
</div>
|
|
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|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
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|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ERCC2, SER541ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913019,
|
|
|
|
|
|
gnomAD: rs121913019,
|
|
|
|
|
|
ClinVar: RCV000018272
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the ser541-to-arg (S541R) mutation in the XPD gene that was found in compound heterozygous state in a patient with xeroderma pigmentosum complementation group D (XPD; 278730) by Kobayashi et al. (1997), see 126340.0004. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ERCC2, ARG112HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913020,
|
|
|
|
|
|
gnomAD: rs121913020,
|
|
|
|
|
|
ClinVar: RCV000018273, RCV000018274, RCV000424822, RCV003466865
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p />
|
|
<p><strong><em>Trichothiodystrophy 1, Photosensitive</em></strong></p><p>
|
|
Of 11 reported Italian patients with photosensitive trichothiodystrophy-1 (TTD1; 601675), Botta et al. (1998) noted that 5 were homozygous for an arg112-to-his (R112H) mutation in the ERCC2 gene and 2 were compound heterozygous. </p><p><strong><em>Xeroderma Pigmentosum, Complementation Group D</em></strong></p><p>
|
|
Broughton et al. (2001) described a 28-year-old woman with sun sensitivity, pigmentation changes, and skin cancers typical of xeroderma pigmentosum complementation group D (XPD; 278730). Mutation analysis revealed compound heterozygous mutations in the ERCC2 gene: the R112H mutation and a leu485-to-pro (L485P; 126340.0003) substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ERCC2, ARG658CYS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913021,
|
|
|
|
|
|
gnomAD: rs121913021,
|
|
|
|
|
|
ClinVar: RCV000018275, RCV002482884, RCV002513098, RCV003153304, RCV003460483
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a girl with photosensitive trichothiodystrophy-1 (TTD1; 601675), Takayama et al. (1996) found a C-to-T transition at nucleotide position 2050 of the ERCC2 gene, resulting in an arg658-to-cys amino acid change (R658C). The causative mutation on the other allele was identified as gly713-to-arg (G713R; 126340.0008). Ichthyosis and loss of scalp hair occurred intermittently in the patient. </p><p>In 2 patients with trichothiodystrophy with the unusual additional feature of aggravation during fever, Vermeulen et al. (2001) found an R658C mutation in the ERCC2 gene. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ERCC2, GLY713ARG
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913022,
|
|
|
|
|
|
|
|
ClinVar: RCV000018276, RCV003230368
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a girl with photosensitive trichothiodystrophy-1 (TTD1; 601675), Takayama et al. (1996) found a G-to-C transversion at nucleotide position 2215 of the ERCC2 gene, resulting in a gly713-to-arg amino acid substitution. They identified this mutation in compound heterozygous state with R658C (126340.0007). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 CEREBROOCULOFACIOSKELETAL SYNDROME 2 (1 patient)</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ERCC2, ASP681ASN
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913023,
|
|
|
|
|
|
gnomAD: rs121913023,
|
|
|
|
|
|
ClinVar: RCV000018277, RCV003114198, RCV003488344
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Graham et al. (2001) described a patient with cerebrooculofacioskeletal syndrome-2 (COFS2; 610756) who was compound heterozygous for 2 mutations in the ERCC2 gene: an arg616-to-trp null mutation (R616W; 126340.0010) and a novel asp681-to-asn (D681N) mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
CEREBROOCULOFACIOSKELETAL SYNDROME 2, INCLUDED (1 patient)
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ERCC2, ARG616TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913024,
|
|
|
|
|
|
gnomAD: rs121913024,
|
|
|
|
|
|
ClinVar: RCV000018278, RCV000171547, RCV001582486, RCV002468972, RCV005016278
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p />
|
|
<p><strong><em>Xeroderma Pigmentosum, Complementation Group D</em></strong></p><p>
|
|
In cell line XP1DU from a patient with xeroderma pigmentosum complementation group D (XPD; 278730), Taylor et al. (1997) identified compound heterozygous mutations in the ERCC2 gene: an arg616-to-trp substitution (R616W) and an arg683-to-trp (R683W; 126340.0015) substitution. </p><p><strong><em>Cerebrooculofacioskeletal Syndrome 2</em></strong></p><p>
|
|
For discussion of the R616W mutation in the ERCC2 gene that was found in compound heterozygous state in a patient with cerebrooculofacioskeletal syndrome-2 (COFS2; 610756) by Graham et al. (2001), see 126340.0009. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ERCC2, 2-BP DEL, 1781TT
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs587778271,
|
|
|
|
|
|
gnomAD: rs587778271,
|
|
|
|
|
|
ClinVar: RCV000120767, RCV000778548, RCV001008079, RCV002498561, RCV003230409, RCV003343649, RCV003444202, RCV003467077, RCV004529999
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Broughton et al. (2001) described a 3-year-old girl with sun sensitivity and mental and physical developmental delay (XPD; 278730) who was compound heterozygous for mutations in the ERCC2 gene: a deletion of dinucleotide TT at 1781-1782, resulting in a frameshift and an immediate stop codon, and a complex alteration with deletion of trinucleotide AGA at 1823-1825 and insertion of TTTCGG at this site (126340.0012). The latter resulted in an in-frame alteration of codons 582 and 583 plus the addition of a glutamate residue after codon 583 adjacent to the helicase domain V. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ERCC2, 3-BP DEL/6-BP INS, NT1823
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs2123229159,
|
|
|
|
|
|
|
|
ClinVar: RCV000018281
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>For discussion of the ins/del mutation in the ERCC2 gene that was found in compound heterozygous state in a patient with xeroderma pigmentosum complementation group D (XPD; 278730) by Broughton et al. (2001), see 126340.0011. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0013 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ERCC2, LEU485PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913025,
|
|
|
|
|
|
|
|
ClinVar: RCV000018282
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Broughton et al. (2001) described a 28-year-old woman with sun sensitivity, pigmentation changes, and skin cancers typical of xeroderma pigmentosum complementation group D (XPD; 278730). Mutation analysis revealed compound heterozygous mutations in the ERCC2 gene: an arg112-to-his mutation (R112H; 126340.0006), which was previously found in patients with photosensitive trichothiodystrophy, and a leu485-to-pro (L485P) mutation. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0014 TRICHOTHIODYSTROPHY 1, PHOTOSENSITIVE</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ERCC2, ARG722TRP
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121913026,
|
|
|
|
|
|
gnomAD: rs121913026,
|
|
|
|
|
|
ClinVar: RCV000018283, RCV000255624, RCV000677676, RCV000763052, RCV001199920, RCV001449816, RCV004532382
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with photosensitive trichothiodystrophy-1 (TTD1; 601675), Broughton et al. (1994) found a homozygous C-to-T transition at nucleotide 2166 in the ERCC2 gene that resulted in an arg722-to-trp (R722W) amino acid substitution. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0015 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP D</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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ERCC2, ARG683TRP
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<br />
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SNP: rs41556519,
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gnomAD: rs41556519,
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ClinVar: RCV000018284, RCV000518900, RCV000623275, RCV000763053, RCV003460484
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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 patients with xeroderma pigmentosum complementation group D (XPD; 278730), Takayama et al. (1995) identified a C-to-T transition at nucleotide 2125 of the ERCC2 gene, resulting in an arg683-to-trp (R683W) substitution. </p><p>Drane et al. (2004) found that fibroblasts from XPD patients with the R683W mutation failed to upregulate CYP24 (CYP24A1; 126065) in response to vitamin D, whereas upregulation of osteopontin (SPP1; 166490) was normal. They demonstrated that the R683W mutation interfered with phosphorylation of ETS1 (164720) by TFIIH, which prevented binding of liganded vitamin D receptor (VDR; 601769) on the CYP24 promoter and proper assembly of the transcriptional machinery on this promoter. </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>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<strong>DNA repair investigations in nine Italian patients affected by trichothiodystrophy.</strong>
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Yoder, K., Sarasin, A., Kraemer, K., McIlhatton, M., Bushman, F., Fishel, R.
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<strong>The DNA repair genes XPB and XPD defend cells from retroviral infection.</strong>
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Carol A. Bocchini - updated : 02/27/2024<br>Patricia A. Hartz - updated : 10/26/2016<br>Patricia A. Hartz - updated : 1/12/2007<br>Patricia A. Hartz - updated : 5/3/2006<br>Paul J. Converse - updated : 4/5/2006<br>Marla J. F. O'Neill - updated : 4/4/2006<br>Ada Hamosh - updated : 8/4/2003<br>Ada Hamosh - updated : 4/3/2003<br>George E. Tiller - updated : 10/15/2002<br>Victor A. McKusick - updated : 7/2/2002<br>George E. Tiller - updated : 5/13/2002<br>Victor A. McKusick - updated : 8/30/2001<br>Stylianos E. Antonarakis - updated : 3/8/2001<br>Victor A. McKusick - updated : 2/28/2001<br>Victor A. McKusick - updated : 10/27/2000<br>Victor A. McKusick - updated : 7/21/1999<br>Victor A. McKusick - updated : 10/23/1998<br>Victor A. McKusick - updated : 9/24/1998<br>Stylianos E. Antonarakis - updated : 8/3/1998<br>Victor A. McKusick - updated : 9/5/1997<br>Victor A. McKusick - updated : 6/23/1997
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