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- *133510 - ERCC EXCISION REPAIR 3, TFIIH CORE COMPLEX HELICASE SUBUNIT; ERCC3
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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">*133510</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<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="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/133510">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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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=ENSG00000163161;t=ENST00000285398" 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=2071" 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=133510" 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=ENSG00000163161;t=ENST00000285398" 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_000122,NM_001303416,NM_001303418,XM_011510794,XM_011510795" 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_000122" 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=133510" 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=00593&isoform_id=00593_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/ERCC3" 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/119541,182179,4557563,14250706,24286758,62822521,62896489,119615717,119615718,119615719,119615720,158254380,193787168,193787880,194390514,742068541,742068543,767917181,767917183,2462571125,2462571127" 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/P19447" 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=2071" 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=ENSG00000163161;t=ENST00000285398" 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=ERCC3" 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=ERCC3" 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+2071" 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/ERCC3" 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:2071" 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/2071" 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=chr2&hgg_gene=ENST00000285398.7&hgg_start=127257290&hgg_end=127294144&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:3435" 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:3435" 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/ercc3" 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=133510[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=133510[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000163161" 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=ERCC3" 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=ERCC3" 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=ERCC3" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=ERCC3&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/PA27849" 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:3435" 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/FBgn0001179.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:95414" 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/ERCC3#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:95414" 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/2071/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=2071" 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=WBGene00013441;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-3043" 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:133510" 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:2071" 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=ERCC3&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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</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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133510
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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 3, TFIIH CORE COMPLEX HELICASE SUBUNIT; ERCC3
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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>
|
|
<span class="mim-font">
|
|
EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3<br />
|
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XPB GENE; XPB
|
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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">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ERCC3" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ERCC3</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>
|
|
<span class="mim-text-font">
|
|
<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/2/621?start=-3&limit=10&highlight=621">2q14.3</a>
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr2:127257290-127294144&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'})">2:127,257,290-127,294,144</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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|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
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<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=616390,610651" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
|
</a>
|
|
</span>
|
|
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/2/621?start=-3&limit=10&highlight=621">
|
|
2q14.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Trichothiodystrophy 2, photosensitive
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/616390"> 616390 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
|
</td>
|
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<td>
|
|
<span class="mim-font">
|
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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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<p>The human genes correcting the rodent repair defects are termed excision repair cross-complementing, or ERCC, genes. A number appended to the symbol refers to the rodent complementary group that is corrected by the human gene. The human ERCC3 gene product specifically corrects the defect in an early step of the DNA nucleotide excision repair (NER) pathway of UV-sensitive rodent mutants of complementation group 3. See also ERCC1 (<a href="/entry/126380">126380</a>), ERCC2 (<a href="/entry/126340">126340</a>), ERCC4 (<a href="/entry/133520">133520</a>), ERCC5 (<a href="/entry/133530">133530</a>), and ERCC6 (<a href="/entry/609413">609413</a>), as well as the XRCC1 (<a href="/entry/194360">194360</a>) gene that corrects the x-ray sensitivity of the Chinese hamster ovary (CHO) mutant cell line EM9.</p>
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<p><a href="#19" class="mim-tip-reference" title="Weeda, G., van Ham, R. C. A., Vermeulen, W., Bootsma, D., van der Eb, A. J., Hoeijmakers, J. H. J. <strong>A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome.</strong> Cell 62: 777-791, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2167179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2167179</a>] [<a href="https://doi.org/10.1016/0092-8674(90)90122-u" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2167179">Weeda et al. (1990)</a> cloned the ERCC3 gene after DNA-mediated gene transfer of HeLa chromosomal DNA into a UV-sensitive CHO mutant in complementation group 3. The deduced 782-residue protein contains several conserved DNA-binding domains, strongly suggesting that it is a DNA repair helicase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2167179" 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="Mounkes, L. C., Jones, R. S., Liang, B.-C., Gelbart, W., Fuller, M. T. <strong>A Drosophila model for xeroderma pigmentosum and Cockayne's syndrome: haywire encodes the fly homolog of ERCC3, a human excision repair gene.</strong> Cell 71: 925-937, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1458540/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1458540</a>] [<a href="https://doi.org/10.1016/0092-8674(92)90389-t" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1458540">Mounkes et al. (1992)</a> demonstrated that the 'haywire' gene of Drosophila encodes a protein with 66% identity to the product of the human ERCC3 gene. <a href="#10" class="mim-tip-reference" title="Park, E., Guzder, S. N., Koken, M. H. M., Jaspers-Dekker, I., Weeda, G., Hoeijmakers, J. H. J., Prakash, S., Prakash, L. <strong>RAD25(SSL2), the yeast homolog of the human xeroderma pigmentosum group B DNA repair gene, is essential for viability.</strong> Proc. Nat. Acad. Sci. 89: 11416-11420, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1333609/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1333609</a>] [<a href="https://doi.org/10.1073/pnas.89.23.11416" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1333609">Park et al. (1992)</a> identified a yeast homolog of human ERCC3, which they termed RAD25, or SSL2. The RAD25 gene encodes an 843-amino acid protein that shares 55% identical and 72% conserved amino acid residues with the human protein. The 2 proteins resemble one another in containing the conserved DNA helicase sequence motifs. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1458540+1333609" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#18" class="mim-tip-reference" title="Weeda, G., Ma, L., van Ham, R. C. A., van der Eb, A. J., Hoeijmakers, J. H. J. <strong>Structure and expression of the human XPBC/ERCC-3 gene involved in DNA repair disorders xeroderma pigmentosum and Cockayne's syndrome.</strong> Nucleic Acids Res. 19: 6301-6308, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1956789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1956789</a>] [<a href="https://doi.org/10.1093/nar/19.22.6301" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1956789">Weeda et al. (1991)</a> determined that the human ERCC3 gene contains 14 exons and spans approximately 45 kb. The donor splice site of the third exon contains a GC instead of the canonical GT dinucleotide. The promoter region, first exon, and first intron comprise a CpG island with several putative GC boxes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1956789" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using cell hybridization, <a href="#14" class="mim-tip-reference" title="Siciliano, M. J., Bachinski, L., Dolf, G., Carrano, A. V., Thompson, L. H. <strong>Chromosomal assignments of human DNA repair genes that complement Chinese hamster ovary (CHO) cell mutants. (Abstract)</strong> Cytogenet. Cell Genet. 46: 691-692, 1987."None>Siciliano et al. (1987)</a> and <a href="#15" class="mim-tip-reference" title="Thompson, L. H., Carrano, A. V., Sato, K., Salazar, E. P., White, B. F., Stewart, S. A., Minkler, J. L., Siciliano, M. J. <strong>Identification of nucleotide-excision-repair genes on human chromosomes 2 and 13 by functional complementation in hamster-human hybrids.</strong> Somat. Cell Molec. Genet. 13: 539-551, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3477874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3477874</a>] [<a href="https://doi.org/10.1007/BF01534495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3477874">Thompson et al. (1987)</a> mapped the ERCC3 gene to chromosome 2q23-qter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3477874" 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="#20" class="mim-tip-reference" title="Weeda, G., Wiegant, J., van der Ploeg, M., Geurts van Kessel, A. H. M., van der Eb, A. J., Hoeijmakers, J. H. J. <strong>Localization of the xeroderma pigmentosum group B-correcting gene ERCC3 to human chromosome 2q21.</strong> Genomics 10: 1035-1040, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1916809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1916809</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90195-k" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1916809">Weeda et al. (1991)</a> assigned the ERCC3 gene to 2q21 by use of somatic cell hybrids containing a translocated chromosome 2 and by in situ hybridization with fluorescently labeled ERCC3 probes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1916809" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The XPB gene product is a subunit of the general transcription factor IIH (TFIIH). <a href="#17" class="mim-tip-reference" title="Weeda, G., Eveno, E., Donker, I., Vermeulen, W., Chevallier-Lagente, O., Taieb, A., Stary, A., Hoeijmakers, J. H. J., Mezzina, M., Sarasin, A. <strong>A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.</strong> Am. J. Hum. Genet. 60: 320-329, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9012405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9012405</a>]" pmid="9012405">Weeda et al. (1997)</a> presented evidence that both XPB and XPD (ERCC2; <a href="/entry/126340">126340</a>) have dual roles in 2 distinct metabolic processes: DNA repair and transcription. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9012405" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a yeast homolog of human ERCC3, <a href="#10" class="mim-tip-reference" title="Park, E., Guzder, S. N., Koken, M. H. M., Jaspers-Dekker, I., Weeda, G., Hoeijmakers, J. H. J., Prakash, S., Prakash, L. <strong>RAD25(SSL2), the yeast homolog of the human xeroderma pigmentosum group B DNA repair gene, is essential for viability.</strong> Proc. Nat. Acad. Sci. 89: 11416-11420, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1333609/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1333609</a>] [<a href="https://doi.org/10.1073/pnas.89.23.11416" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1333609">Park et al. (1992)</a> found that a nonsense mutation at codon 799 in RAD25 that deleted the 45 C-terminal amino acid residues conferred UV sensitivity. This mutation showed epistasis in relation to genes in the excision repair group, whereas a synergistic increase in UV sensitivity occurred when it was combined with mutations in genes in other DNA repair pathways, indicating that RAD25 functions in excision repair, but not in other repair, pathways. <a href="#10" class="mim-tip-reference" title="Park, E., Guzder, S. N., Koken, M. H. M., Jaspers-Dekker, I., Weeda, G., Hoeijmakers, J. H. J., Prakash, S., Prakash, L. <strong>RAD25(SSL2), the yeast homolog of the human xeroderma pigmentosum group B DNA repair gene, is essential for viability.</strong> Proc. Nat. Acad. Sci. 89: 11416-11420, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1333609/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1333609</a>] [<a href="https://doi.org/10.1073/pnas.89.23.11416" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1333609">Park et al. (1992)</a> also showed that RAD25 is an essential gene; a mutation of the lys392 residue to arginine was lethal. <a href="#3" class="mim-tip-reference" title="Guzder, S. N., Sung, P., Bailly, V., Prakash, L., Prakash, S. <strong>RAD25 is a DNA helicase required for DNA repair and RNA polymerase II transcription.</strong> Nature 369: 578-581, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8202161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8202161</a>] [<a href="https://doi.org/10.1038/369578a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8202161">Guzder et al. (1994)</a> showed that purified RAD25 protein from Saccharomyces cerevisiae contains single-stranded DNA-dependent ATPase and DNA helicase activities. Extract from a conditional lethal mutant exhibited a thermolabile transcriptional defect that could be corrected by the addition of RAD25, indicating a direct and essential role of that protein in RNA polymerase II transcription. Study of other mutants in which <a href="#3" class="mim-tip-reference" title="Guzder, S. N., Sung, P., Bailly, V., Prakash, L., Prakash, S. <strong>RAD25 is a DNA helicase required for DNA repair and RNA polymerase II transcription.</strong> Nature 369: 578-581, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8202161/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8202161</a>] [<a href="https://doi.org/10.1038/369578a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8202161">Guzder et al. (1994)</a> could separate RAD25 DNA-repair activity from its transcription function suggested that the RAD25-encoded DNA helicase functions in DNA duplex opening during transcription initiation. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8202161+1333609" 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="#12" class="mim-tip-reference" title="Schaeffer, L., Roy, R., Humbert, S., Moncollin, V., Vermeulen, W., Hoeijmakers, J. H. J., Chambon, P., Egly, J-M. <strong>DNA repair helicase: a component of BTF2 (THFIIH) basic transcription factor.</strong> Science 260: 58-63, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8465201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8465201</a>] [<a href="https://doi.org/10.1126/science.8465201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8465201">Schaeffer et al. (1993)</a> identified the ERCC3 gene product as one of the components of the human transcription factor BTF2/TFIIH required for a late step in the initiation of transcription of genes with the class II promoter. ERCC3 is also a DNA repair helicase. The findings of <a href="#12" class="mim-tip-reference" title="Schaeffer, L., Roy, R., Humbert, S., Moncollin, V., Vermeulen, W., Hoeijmakers, J. H. J., Chambon, P., Egly, J-M. <strong>DNA repair helicase: a component of BTF2 (THFIIH) basic transcription factor.</strong> Science 260: 58-63, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8465201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8465201</a>] [<a href="https://doi.org/10.1126/science.8465201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8465201">Schaeffer et al. (1993)</a> indicated that transcription and nucleotide excision repair share common factors and hence may be considered to be functionally related. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8465201" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Kim, T.-K., Ebright, R. H., Reinberg, D. <strong>Mechanism of ATP-dependent promoter melting by transcription factor IIH.</strong> Science 288: 1418-1421, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10827951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10827951</a>] [<a href="https://doi.org/10.1126/science.288.5470.1418" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10827951">Kim et al. (2000)</a> demonstrated that the TFIIH ERCC3 subunit, the DNA helicase responsible for ATP-dependent promoter melting during transcription initiation, does not interact with the promoter region that undergoes melting but instead interacts with DNA downstream of this region. <a href="#5" class="mim-tip-reference" title="Kim, T.-K., Ebright, R. H., Reinberg, D. <strong>Mechanism of ATP-dependent promoter melting by transcription factor IIH.</strong> Science 288: 1418-1421, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10827951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10827951</a>] [<a href="https://doi.org/10.1126/science.288.5470.1418" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10827951">Kim et al. (2000)</a> also demonstrated that promoter melting does not change protein-DNA interactions upstream of the region that undergoes melting, but does change interactions within and downstream of this region. <a href="#5" class="mim-tip-reference" title="Kim, T.-K., Ebright, R. H., Reinberg, D. <strong>Mechanism of ATP-dependent promoter melting by transcription factor IIH.</strong> Science 288: 1418-1421, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10827951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10827951</a>] [<a href="https://doi.org/10.1126/science.288.5470.1418" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10827951">Kim et al. (2000)</a> concluded that their results rule out the proposal that TFIIH functions in promoter melting through a conventional DNA helicase mechanism; they proposed a new model wherein TFIIH functions as a molecular wrench rotating downstream DNA relative to fixed upstream protein-DNA interactions, thereby generating torque on, and melting, the intervening DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10827951" 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 or XPD yield overlapping DNA repair and transcription syndromes with increased risk of cancer (see <a href="/entry/610651">610651</a> and <a href="/entry/278730">278730</a>, respectively). Clinical features attributed to the transcription defect, however, are subtle and difficult to evaluate. <a href="#7" 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>The Rift Valley fever virus (RVFV) is the causative agent of fatal hemorrhagic fever in humans and acute hepatitis in ruminants. <a href="#6" class="mim-tip-reference" title="Le May, N., Dubaele, S., De Santis, L. P., Billecocq, A., Bouloy, M., Egly, J.-M. <strong>TFIIH transcription factor, a target for the Rift Valley hemorrhagic fever virus.</strong> Cell 116: 541-550, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14980221/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14980221</a>] [<a href="https://doi.org/10.1016/s0092-8674(04)00132-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14980221">Le May et al. (2004)</a> found that infection by RVFV led to a rapid and drastic suppression of host cellular RNA synthesis that paralleled a decrease of the TFIIH transcription factor cellular concentration. The nonstructural viral NSs protein interacted with the p44 component of TFIIH (GTF2H2; <a href="/entry/601748">601748</a>) to form nuclear filamentous structures that also contained the XPB subunit of TFIIH. By competing with XPD, the natural partner of p44 within TFIIH, and sequestering p44 and XPB subunits, NSs prevented the assembly of TFIIH subunits, thus destabilizing the normal host cell life. These observations shed light on the mechanism utilized by RVFV to evade the host response. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14980221" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="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 mutant cells. The difference in transduction efficiency was not due to apoptosis. <a href="#21" 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="#2" class="mim-tip-reference" title="Coin, F., Oksenych, V., Egly, J.-M. <strong>Distinct roles for the XPB/p52 and XPD/p44 subcomplexes of TFIIH in damaged DNA opening during nucleotide excision repair.</strong> Molec. Cell 26: 245-256, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17466626/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17466626</a>] [<a href="https://doi.org/10.1016/j.molcel.2007.03.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17466626">Coin et al. (2007)</a> found that XPB interacts with the TFIIH p52 subunit (GTF2H4; <a href="/entry/601760">601760</a>) and that the interaction stimulates the ATPase activity of XPB. In vitro studies showed that the TFIIH from an XPB patient with the F99S mutation (<a href="#0002">133510.0002</a>) was unable to induce the opening of DNA around lesions, due to the incorrect XPB/p52 interaction and lack of ATPase stimulation. Further studies with recombinant mutant XPB proteins showed that the helicase activity of XPB was dispensable for nucleotide excision repair, but its ATPase activity in combination with the helicase activity of XPD was required. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17466626" 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><strong><em>Xeroderma Pigmentosum Complementation Group B/Cockayne Syndrome</em></strong></p><p>
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In a woman with type B xeroderma pigmentosum/Cockayne syndrome (<a href="/entry/610651">610651</a>), originally reported by <a href="#11" class="mim-tip-reference" title="Robbins, J. H., Kraemer, K. H., Lutzner, M. A., Festoff, B. W., Coon, H. G. <strong>Xeroderma pigmentosum: an inherited disease with sun sensitivity, multiple cutaneous neoplasms and abnormal DNA repair.</strong> Ann. Intern. Med. 80: 221-248, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4811796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4811796</a>] [<a href="https://doi.org/10.7326/0003-4819-80-2-221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4811796">Robbins et al. (1974)</a>, <a href="#19" class="mim-tip-reference" title="Weeda, G., van Ham, R. C. A., Vermeulen, W., Bootsma, D., van der Eb, A. J., Hoeijmakers, J. H. J. <strong>A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome.</strong> Cell 62: 777-791, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2167179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2167179</a>] [<a href="https://doi.org/10.1016/0092-8674(90)90122-u" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2167179">Weeda et al. (1990)</a> identified a heterozygous mutation in the ERCC3 gene (<a href="#0001">133510.0001</a>). <a href="#9" class="mim-tip-reference" title="Oh, K.-S., Khan, S. G., Jaspers, N. G. J., Raams, A., Ueda, T., Lehmann, A., Friedmann, P. S., Emmert, S., Gratchev, A., Lachlan, K., Lucassan, A., Baker, C. C., Kraemer, K. H. <strong>Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.</strong> Hum. Mutat. 27: 1092-1103, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16947863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16947863</a>] [<a href="https://doi.org/10.1002/humu.20392" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16947863">Oh et al. (2006)</a> identified a second mutant allele (<a href="#0005">133510.0005</a>) in this patient. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2167179+4811796+16947863" 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 brothers with XPB/Cockayne syndrome (<a href="#13" class="mim-tip-reference" title="Scott, R. J., Itin, P., Kleijer, W. J., Kolb, K., Arlett, C., Muller, H. <strong>Xeroderma pigmentosum-Cockayne syndrome complex in two patients: absence of skin tumors despite severe deficiency of DNA excision repair.</strong> J. Am. Acad. Derm. 29: 883-889, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8408834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8408834</a>] [<a href="https://doi.org/10.1016/0190-9622(93)70263-s" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8408834">Scott et al., 1993</a>), <a href="#16" class="mim-tip-reference" title="Vermeulen, W., Scott, R. J., Rodgers, S., Muller, H. J., Cole, J., Arlett, C. F., Kleijer, W. J., Bootsma, D., Hoeijmakers, J. H. J., Weeda, G. <strong>Clinical heterogeneity with xeroderma pigmentosum associated within mutations in the DNA repair and transcription gene ERCC3.</strong> Am. J. Hum. Genet. 54: 191-200, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8304337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8304337</a>]" pmid="8304337">Vermeulen et al. (1994)</a> identified a heterozygous mutation in the ERCC3 gene (F99S; <a href="#0002">133510.0002</a>). <a href="#9" class="mim-tip-reference" title="Oh, K.-S., Khan, S. G., Jaspers, N. G. J., Raams, A., Ueda, T., Lehmann, A., Friedmann, P. S., Emmert, S., Gratchev, A., Lachlan, K., Lucassan, A., Baker, C. C., Kraemer, K. H. <strong>Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.</strong> Hum. Mutat. 27: 1092-1103, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16947863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16947863</a>] [<a href="https://doi.org/10.1002/humu.20392" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16947863">Oh et al. (2006)</a> identified a second pathogenic mutation (<a href="#0008">133510.0008</a>) in these patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8408834+16947863+8304337" 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="#1" class="mim-tip-reference" title="Cleaver, J. E., Thompson, L. H., Richardson, A. S., States, J. C. <strong>A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.</strong> Hum. Mutat. 14: 9-22, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10447254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10447254</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10447254">Cleaver et al. (1999)</a> reviewed the 3 ERCC3 mutations that had been identified in association with XPB. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10447254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 2 unrelated patients from Slovenia and Germany, respectively, with severe forms of XPB/Cockayne syndrome with skin and neurologic manifestations, <a href="#9" class="mim-tip-reference" title="Oh, K.-S., Khan, S. G., Jaspers, N. G. J., Raams, A., Ueda, T., Lehmann, A., Friedmann, P. S., Emmert, S., Gratchev, A., Lachlan, K., Lucassan, A., Baker, C. C., Kraemer, K. H. <strong>Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.</strong> Hum. Mutat. 27: 1092-1103, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16947863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16947863</a>] [<a href="https://doi.org/10.1002/humu.20392" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16947863">Oh et al. (2006)</a> identified compound heterozygosity for 2 mutations in the ERCC3 gene (<a href="#0001">133510.0001</a> and <a href="#0006">133510.0006</a> or <a href="#0007">133510.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16947863" 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 2, Photosensitive</em></strong></p><p>
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<a href="#17" class="mim-tip-reference" title="Weeda, G., Eveno, E., Donker, I., Vermeulen, W., Chevallier-Lagente, O., Taieb, A., Stary, A., Hoeijmakers, J. H. J., Mezzina, M., Sarasin, A. <strong>A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.</strong> Am. J. Hum. Genet. 60: 320-329, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9012405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9012405</a>]" pmid="9012405">Weeda et al. (1997)</a> characterized the nucleotide excision repair defect in 2 patients with a mild form of trichothiodystrophy (TTD2; <a href="/entry/616390">616390</a>) and confirmed the assignment of these cases to the complementation group B of XP. The causative mutation was found to be a single base substitution causing a missense mutation (T119P; <a href="#0003">133510.0003</a>) in a region of the XPB protein completely conserved in yeast, Drosophila, and human. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9012405" 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>Ercc3-deficient rodent mutants phenotypically resemble human xeroderma pigmentosum (<a href="#19" class="mim-tip-reference" title="Weeda, G., van Ham, R. C. A., Vermeulen, W., Bootsma, D., van der Eb, A. J., Hoeijmakers, J. H. J. <strong>A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome.</strong> Cell 62: 777-791, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2167179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2167179</a>] [<a href="https://doi.org/10.1016/0092-8674(90)90122-u" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2167179">Weeda et al., 1990</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2167179" 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>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<p>In a woman with type B xeroderma pigmentosum/Cockayne syndrome (<a href="/entry/610651">610651</a>) reported by <a href="#11" class="mim-tip-reference" title="Robbins, J. H., Kraemer, K. H., Lutzner, M. A., Festoff, B. W., Coon, H. G. <strong>Xeroderma pigmentosum: an inherited disease with sun sensitivity, multiple cutaneous neoplasms and abnormal DNA repair.</strong> Ann. Intern. Med. 80: 221-248, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4811796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4811796</a>] [<a href="https://doi.org/10.7326/0003-4819-80-2-221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4811796">Robbins et al. (1974)</a>, <a href="#19" class="mim-tip-reference" title="Weeda, G., van Ham, R. C. A., Vermeulen, W., Bootsma, D., van der Eb, A. J., Hoeijmakers, J. H. J. <strong>A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome.</strong> Cell 62: 777-791, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2167179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2167179</a>] [<a href="https://doi.org/10.1016/0092-8674(90)90122-u" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2167179">Weeda et al. (1990)</a> identified a heterozygous C-to-A transversion in the splice acceptor sequence of intron 14 of the only ERCC3 allele that was detectably expressed. Whereas the RNA of the patient showed clear hybridization only with a mutant-specific probe, the RNA from her mother showed clear hybridization with both the mutant and wildtype probes. This patient was the first identified with complementation group B xeroderma pigmentosum. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2167179+4811796" 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="#4" class="mim-tip-reference" title="Hwang, J. R., Moncollin, V., Vermeulen, W., Seroz, T., van Vuuren, H., Hoeijmakers, J. H. J., Egly, J. M. <strong>A 3-prime to 5-prime helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription.</strong> J. Biol. Chem. 271: 15898-15904, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8663148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8663148</a>] [<a href="https://doi.org/10.1074/jbc.271.27.15898" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8663148">Hwang et al. (1996)</a> performed detailed in vitro studies of the mutant XPB protein identified by <a href="#19" class="mim-tip-reference" title="Weeda, G., van Ham, R. C. A., Vermeulen, W., Bootsma, D., van der Eb, A. J., Hoeijmakers, J. H. J. <strong>A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome.</strong> Cell 62: 777-791, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2167179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2167179</a>] [<a href="https://doi.org/10.1016/0092-8674(90)90122-u" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2167179">Weeda et al. (1990)</a>. As the XPB protein is a subunit of the generalized transcription factor IIH, mutant GTF2H1 (<a href="/entry/189972">189972</a>) isolated from the patient showed decreased 3-prime to 5-prime XPB helicase activity and decreased DNA-dependent ATPase activities, resulting in a severe DNA nucleotide excision repair (NER) defect (5-10% of wildtype). There was also evidence for a decrease in basal transcription activity. The patient had combined clinical signs of XP and Cockayne syndrome, which <a href="#4" class="mim-tip-reference" title="Hwang, J. R., Moncollin, V., Vermeulen, W., Seroz, T., van Vuuren, H., Hoeijmakers, J. H. J., Egly, J. M. <strong>A 3-prime to 5-prime helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription.</strong> J. Biol. Chem. 271: 15898-15904, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8663148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8663148</a>] [<a href="https://doi.org/10.1074/jbc.271.27.15898" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8663148">Hwang et al. (1996)</a> concluded was consistent with a combined defect in DNA repair and transcription. The typical XP features, such as sun sensitivity, pigmentation abnormalities, and cancer predisposition, were consistent with a defect in NER, whereas dwarfism, neuromyelination defects, deafness, and impaired sexual development may have resulted from decreased transcription. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2167179+8663148" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Oh, K.-S., Khan, S. G., Jaspers, N. G. J., Raams, A., Ueda, T., Lehmann, A., Friedmann, P. S., Emmert, S., Gratchev, A., Lachlan, K., Lucassan, A., Baker, C. C., Kraemer, K. H. <strong>Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.</strong> Hum. Mutat. 27: 1092-1103, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16947863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16947863</a>] [<a href="https://doi.org/10.1002/humu.20392" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16947863">Oh et al. (2006)</a> identified heterozygosity for the IVS14AS-6C-A transversion in 2 unrelated patients from Slovenia and Germany, respectively, with severe forms of XPB/Cockayne syndrome with skin and neurologic manifestations. They also confirmed heterozygosity for the mutation in the original patient reported by <a href="#11" class="mim-tip-reference" title="Robbins, J. H., Kraemer, K. H., Lutzner, M. A., Festoff, B. W., Coon, H. G. <strong>Xeroderma pigmentosum: an inherited disease with sun sensitivity, multiple cutaneous neoplasms and abnormal DNA repair.</strong> Ann. Intern. Med. 80: 221-248, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4811796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4811796</a>] [<a href="https://doi.org/10.7326/0003-4819-80-2-221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4811796">Robbins et al. (1974)</a> and <a href="#19" class="mim-tip-reference" title="Weeda, G., van Ham, R. C. A., Vermeulen, W., Bootsma, D., van der Eb, A. J., Hoeijmakers, J. H. J. <strong>A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome.</strong> Cell 62: 777-791, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2167179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2167179</a>] [<a href="https://doi.org/10.1016/0092-8674(90)90122-u" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2167179">Weeda et al. (1990)</a>. Additional genetic analysis found that all 3 patients were compound heterozygous for the splice site mutation and another pathogenic ERCC3 mutation resulting in truncated proteins (see <a href="#0005">133510.0005</a>; <a href="#0006">133510.0006</a>; <a href="#0007">133510.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16947863+4811796+2167179" 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> rs121913045 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913045;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/rs121913045?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=rs121913045" 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=rs121913045" 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=RCV000018051 OR RCV005025066" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018051, RCV005025066" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018051...</a>
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<p>In 2 brothers with xeroderma pigmentosum type B/Cockayne syndrome (<a href="/entry/610651">610651</a>) reported by <a href="#13" class="mim-tip-reference" title="Scott, R. J., Itin, P., Kleijer, W. J., Kolb, K., Arlett, C., Muller, H. <strong>Xeroderma pigmentosum-Cockayne syndrome complex in two patients: absence of skin tumors despite severe deficiency of DNA excision repair.</strong> J. Am. Acad. Derm. 29: 883-889, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8408834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8408834</a>] [<a href="https://doi.org/10.1016/0190-9622(93)70263-s" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8408834">Scott et al. (1993)</a>, <a href="#16" class="mim-tip-reference" title="Vermeulen, W., Scott, R. J., Rodgers, S., Muller, H. J., Cole, J., Arlett, C. F., Kleijer, W. J., Bootsma, D., Hoeijmakers, J. H. J., Weeda, G. <strong>Clinical heterogeneity with xeroderma pigmentosum associated within mutations in the DNA repair and transcription gene ERCC3.</strong> Am. J. Hum. Genet. 54: 191-200, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8304337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8304337</a>]" pmid="8304337">Vermeulen et al. (1994)</a> identified a heterozygous mutation in the ERCC3 gene, resulting in a phe99-to-ser (F99S) substitution in a highly conserved region of the ERCC3 protein. Phenylalanine is a consistent finding at position 99 with aspartic acid at position 98 and leucine at position 100 in human, mouse, Drosophila, and yeast. Despite equally severe deficiency of nucleotide excision repair as measured in fibroblasts, the patients were much less severely affected than the original patient of <a href="#11" class="mim-tip-reference" title="Robbins, J. H., Kraemer, K. H., Lutzner, M. A., Festoff, B. W., Coon, H. G. <strong>Xeroderma pigmentosum: an inherited disease with sun sensitivity, multiple cutaneous neoplasms and abnormal DNA repair.</strong> Ann. Intern. Med. 80: 221-248, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4811796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4811796</a>] [<a href="https://doi.org/10.7326/0003-4819-80-2-221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4811796">Robbins et al. (1974)</a> (see <a href="#0001">133510.0001</a>). <a href="#9" class="mim-tip-reference" title="Oh, K.-S., Khan, S. G., Jaspers, N. G. J., Raams, A., Ueda, T., Lehmann, A., Friedmann, P. S., Emmert, S., Gratchev, A., Lachlan, K., Lucassan, A., Baker, C. C., Kraemer, K. H. <strong>Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.</strong> Hum. Mutat. 27: 1092-1103, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16947863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16947863</a>] [<a href="https://doi.org/10.1002/humu.20392" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16947863">Oh et al. (2006)</a> identified a second pathogenic ERCC3 mutation (<a href="#0008">133510.0008</a>) in these brothers. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8408834+4811796+16947863+8304337" 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 sisters with a relatively mild form of XP without major features of Cockayne syndrome, <a href="#9" class="mim-tip-reference" title="Oh, K.-S., Khan, S. G., Jaspers, N. G. J., Raams, A., Ueda, T., Lehmann, A., Friedmann, P. S., Emmert, S., Gratchev, A., Lachlan, K., Lucassan, A., Baker, C. C., Kraemer, K. H. <strong>Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.</strong> Hum. Mutat. 27: 1092-1103, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16947863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16947863</a>] [<a href="https://doi.org/10.1002/humu.20392" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16947863">Oh et al. (2006)</a> identified compound heterozygosity for 2 mutations in the ERCC3 gene: a 296T-C transition in exon 3 of the ERCC3 gene, resulting in an F99S substitution, and R425X (<a href="#0004">133510.0004</a>). Both patients had XP features of sun sensitivity and freckle-like pigmentation, multiple basal cell carcinomas, and ocular malignant melanomas. The only neurologic signs were childhood-onset progressive sensorineural deafness in both and mild cerebellar ataxia in 1. Each parent was heterozygous for 1 of the mutations. Both sisters gave birth to healthy children. Studies of patient-derived cells showed decreased DNA repair rates and decreased levels of XPB protein. <a href="#9" class="mim-tip-reference" title="Oh, K.-S., Khan, S. G., Jaspers, N. G. J., Raams, A., Ueda, T., Lehmann, A., Friedmann, P. S., Emmert, S., Gratchev, A., Lachlan, K., Lucassan, A., Baker, C. C., Kraemer, K. H. <strong>Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.</strong> Hum. Mutat. 27: 1092-1103, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16947863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16947863</a>] [<a href="https://doi.org/10.1002/humu.20392" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16947863">Oh et al. (2006)</a> noted the relatively mild phenotype associated with this mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16947863" 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">rs121913046 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913046;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=rs121913046" 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=rs121913046" 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=RCV000018052" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018052" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018052</a>
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<p>In 2 sibs, born of consanguineous parents, with photosensitive trichothiodystrophy-2 (TTD2; <a href="/entry/616390">616390</a>), <a href="#17" class="mim-tip-reference" title="Weeda, G., Eveno, E., Donker, I., Vermeulen, W., Chevallier-Lagente, O., Taieb, A., Stary, A., Hoeijmakers, J. H. J., Mezzina, M., Sarasin, A. <strong>A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.</strong> Am. J. Hum. Genet. 60: 320-329, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9012405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9012405</a>]" pmid="9012405">Weeda et al. (1997)</a> identified a homozygous thr119-to-pro (T119P) substitution in the ERCC3 gene. The proband, a male, had congenital ichthyosis (collodion baby). The skin condition improved within 3 weeks, leaving a mild ichthyosis of the trunk. TTD was suspected at 3 years of age, on the basis of mild ichthyosis of the trunk, with involvement of the scalp, palms, and soles; mild photosensitivity; lack of second upper incisor; and hair that grew normally but was coarse, with a tiger-tail pattern under polarized light. The diagnosis of TTD was confirmed by analysis of the amino acid content of hair, showing a decrease in cysteine residues. An older affected sister had a similar presentation as a collodion baby with favorable outcome. A diagnosis of TTD was confirmed by hair microscopy and biochemical analysis showing low cysteine content. Both the proband and his sister were in good general health, without physical and mental impairment, at the ages of 10 and 16 years, respectively. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9012405" 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 B/COCKAYNE SYNDROME</strong>
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ERCC3, ARG425TER
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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> rs121913047 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913047;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/rs121913047?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=rs121913047" 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=rs121913047" 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=RCV000018053 OR RCV001851900 OR RCV002513092 OR RCV004541009 OR RCV005025067" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018053, RCV001851900, RCV002513092, RCV004541009, RCV005025067" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018053...</a>
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<p>In 2 sisters with a relatively mild form of type B xeroderma pigmentosum without major manifestations of Cockayne syndrome (<a href="/entry/610651">610651</a>), <a href="#9" class="mim-tip-reference" title="Oh, K.-S., Khan, S. G., Jaspers, N. G. J., Raams, A., Ueda, T., Lehmann, A., Friedmann, P. S., Emmert, S., Gratchev, A., Lachlan, K., Lucassan, A., Baker, C. C., Kraemer, K. H. <strong>Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.</strong> Hum. Mutat. 27: 1092-1103, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16947863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16947863</a>] [<a href="https://doi.org/10.1002/humu.20392" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16947863">Oh et al. (2006)</a> identified compound heterozygosity for 2 mutations in the ERCC3 gene: a 1273C-T transition in exon 8, resulting in an arg425-to-ter (R425X) substitution, and F99S (<a href="#0002">133510.0002</a>). Each parent was heterozygous for 1 of the mutations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16947863" 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 B/COCKAYNE SYNDROME</strong>
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ERCC3, 2-BP DEL, 807TT
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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> rs866379139 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs866379139;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/rs866379139?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=rs866379139" 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=rs866379139" 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=RCV000018054 OR RCV002513093" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018054, RCV002513093" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018054...</a>
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<p>In a patient with a severe form of type B xeroderma pigmentosum/Cockayne syndrome (<a href="/entry/610651">610651</a>) first reported by <a href="#11" class="mim-tip-reference" title="Robbins, J. H., Kraemer, K. H., Lutzner, M. A., Festoff, B. W., Coon, H. G. <strong>Xeroderma pigmentosum: an inherited disease with sun sensitivity, multiple cutaneous neoplasms and abnormal DNA repair.</strong> Ann. Intern. Med. 80: 221-248, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4811796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4811796</a>] [<a href="https://doi.org/10.7326/0003-4819-80-2-221" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4811796">Robbins et al. (1974)</a>, <a href="#9" class="mim-tip-reference" title="Oh, K.-S., Khan, S. G., Jaspers, N. G. J., Raams, A., Ueda, T., Lehmann, A., Friedmann, P. S., Emmert, S., Gratchev, A., Lachlan, K., Lucassan, A., Baker, C. C., Kraemer, K. H. <strong>Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.</strong> Hum. Mutat. 27: 1092-1103, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16947863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16947863</a>] [<a href="https://doi.org/10.1002/humu.20392" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16947863">Oh et al. (2006)</a> identified compound heterozygosity for 2 mutations in the ERCC3 gene: a splice site mutation (<a href="#0001">133510.0001</a>) and a 2-bp deletion (807delTT). The 2-bp deletion was inherited from the patient's father. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16947863+4811796" 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 XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME</strong>
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ERCC3, 1-BP INS, 1421A
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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> rs587778281 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587778281;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/rs587778281?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=rs587778281" 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=rs587778281" 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=RCV000018055 OR RCV000120802 OR RCV000482017 OR RCV002255296 OR RCV002477310 OR RCV004757130" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018055, RCV000120802, RCV000482017, RCV002255296, RCV002477310, RCV004757130" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018055...</a>
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<p>In a patient with a severe form of type B xeroderma pigmentosum/Cockayne syndrome (<a href="/entry/610651">610651</a>), <a href="#9" class="mim-tip-reference" title="Oh, K.-S., Khan, S. G., Jaspers, N. G. J., Raams, A., Ueda, T., Lehmann, A., Friedmann, P. S., Emmert, S., Gratchev, A., Lachlan, K., Lucassan, A., Baker, C. C., Kraemer, K. H. <strong>Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.</strong> Hum. Mutat. 27: 1092-1103, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16947863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16947863</a>] [<a href="https://doi.org/10.1002/humu.20392" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16947863">Oh et al. (2006)</a> identified compound heterozygosity for 2 mutations in the ERCC3 gene: a splice site mutation (<a href="#0001">133510.0001</a>) and a 1-bp insertion (1421insA) in exon 9, resulting in a frameshift and premature termination of the protein at codon 475. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16947863" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0007 XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME</strong>
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ERCC3, GLN545TER
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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> rs121913048 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121913048;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/rs121913048?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=rs121913048" 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=rs121913048" 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=RCV000018056 OR RCV005089269" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018056, RCV005089269" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018056...</a>
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<p>In a patient with a severe form of type B xeroderma pigmentosum/Cockayne syndrome (<a href="/entry/610651">610651</a>), <a href="#9" class="mim-tip-reference" title="Oh, K.-S., Khan, S. G., Jaspers, N. G. J., Raams, A., Ueda, T., Lehmann, A., Friedmann, P. S., Emmert, S., Gratchev, A., Lachlan, K., Lucassan, A., Baker, C. C., Kraemer, K. H. <strong>Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.</strong> Hum. Mutat. 27: 1092-1103, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16947863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16947863</a>] [<a href="https://doi.org/10.1002/humu.20392" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16947863">Oh et al. (2006)</a> identified compound heterozygosity for 2 mutations in the ERCC3 gene: a splice site mutation (<a href="#0001">133510.0001</a>) and a 1633C-T transition in exon 10, resulting in a gln545-to-ter (Q545X) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16947863" 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>.0008 XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME</strong>
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ERCC3, IVS3DS, G-A, +1
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1558964705 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1558964705;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=rs1558964705" 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=rs1558964705" 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=RCV000018057 OR RCV003226162" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018057, RCV003226162" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018057...</a>
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<p>In 2 adult brothers with type B xeroderma pigmentosum/Cockayne syndrome (<a href="/entry/610651">610651</a>), <a href="#9" class="mim-tip-reference" title="Oh, K.-S., Khan, S. G., Jaspers, N. G. J., Raams, A., Ueda, T., Lehmann, A., Friedmann, P. S., Emmert, S., Gratchev, A., Lachlan, K., Lucassan, A., Baker, C. C., Kraemer, K. H. <strong>Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.</strong> Hum. Mutat. 27: 1092-1103, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16947863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16947863</a>] [<a href="https://doi.org/10.1002/humu.20392" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16947863">Oh et al. (2006)</a> identified a heterozygous G-to-A transition at the +1 position of intron 3 (IVS3DS+1G-A) of the ERCC3 gene, resulting in premature termination of the protein at codon 162. The mother also carried the mutation. These brothers had been shown by <a href="#16" class="mim-tip-reference" title="Vermeulen, W., Scott, R. J., Rodgers, S., Muller, H. J., Cole, J., Arlett, C. F., Kleijer, W. J., Bootsma, D., Hoeijmakers, J. H. J., Weeda, G. <strong>Clinical heterogeneity with xeroderma pigmentosum associated within mutations in the DNA repair and transcription gene ERCC3.</strong> Am. J. Hum. Genet. 54: 191-200, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8304337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8304337</a>]" pmid="8304337">Vermeulen et al. (1994)</a> to also have a heterozygous mutation in the ERCC3 gene (F99S; <a href="#0002">133510.0002</a>). Both men had early onset of severe sunburn and freckle-like skin pigmentation. Other features included short stature, early-onset sensorineural hearing loss, immature sexual development, and late-onset neurologic impairment with hyperreflexia, demyelinating neuropathy, enlarged cerebral ventricles, and retinopathy. Neither patient had skin cancers. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16947863+8304337" 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>REFERENCES</strong>
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<a id="Cleaver1999" class="mim-anchor"></a>
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Coin, F., Oksenych, V., Egly, J.-M.
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<strong>Distinct roles for the XPB/p52 and XPD/p44 subcomplexes of TFIIH in damaged DNA opening during nucleotide excision repair.</strong>
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[<a href="https://doi.org/10.1016/j.molcel.2007.03.009" target="_blank">Full Text</a>]
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Guzder, S. N., Sung, P., Bailly, V., Prakash, L., Prakash, S.
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[<a href="https://doi.org/10.1038/369578a0" target="_blank">Full Text</a>]
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Kim, T.-K., Ebright, R. H., Reinberg, D.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10827951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10827951</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10827951" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Le May, N., Dubaele, S., De Santis, L. P., Billecocq, A., Bouloy, M., Egly, J.-M.
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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.
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Mounkes, L. C., Jones, R. S., Liang, B.-C., Gelbart, W., Fuller, M. T.
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<strong>A Drosophila model for xeroderma pigmentosum and Cockayne's syndrome: haywire encodes the fly homolog of ERCC3, a human excision repair gene.</strong>
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Oh, K.-S., Khan, S. G., Jaspers, N. G. J., Raams, A., Ueda, T., Lehmann, A., Friedmann, P. S., Emmert, S., Gratchev, A., Lachlan, K., Lucassan, A., Baker, C. C., Kraemer, K. H.
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<strong>Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.</strong>
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Hum. Mutat. 27: 1092-1103, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16947863/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16947863</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16947863" 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/humu.20392" target="_blank">Full Text</a>]
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Park, E., Guzder, S. N., Koken, M. H. M., Jaspers-Dekker, I., Weeda, G., Hoeijmakers, J. H. J., Prakash, S., Prakash, L.
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<strong>RAD25(SSL2), the yeast homolog of the human xeroderma pigmentosum group B DNA repair gene, is essential for viability.</strong>
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Proc. Nat. Acad. Sci. 89: 11416-11420, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1333609/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1333609</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1333609" 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.89.23.11416" target="_blank">Full Text</a>]
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<a id="Robbins1974" class="mim-anchor"></a>
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<p class="mim-text-font">
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Robbins, J. H., Kraemer, K. H., Lutzner, M. A., Festoff, B. W., Coon, H. G.
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<strong>Xeroderma pigmentosum: an inherited disease with sun sensitivity, multiple cutaneous neoplasms and abnormal DNA repair.</strong>
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Ann. Intern. Med. 80: 221-248, 1974.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4811796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4811796</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4811796" 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/10.7326/0003-4819-80-2-221" target="_blank">Full Text</a>]
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<a id="Schaeffer1993" class="mim-anchor"></a>
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<p class="mim-text-font">
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Schaeffer, L., Roy, R., Humbert, S., Moncollin, V., Vermeulen, W., Hoeijmakers, J. H. J., Chambon, P., Egly, J-M.
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<strong>DNA repair helicase: a component of BTF2 (THFIIH) basic transcription factor.</strong>
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Science 260: 58-63, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8465201/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8465201</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8465201" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.8465201" target="_blank">Full Text</a>]
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<a id="Scott1993" class="mim-anchor"></a>
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Scott, R. J., Itin, P., Kleijer, W. J., Kolb, K., Arlett, C., Muller, H.
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<strong>Xeroderma pigmentosum-Cockayne syndrome complex in two patients: absence of skin tumors despite severe deficiency of DNA excision repair.</strong>
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J. Am. Acad. Derm. 29: 883-889, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8408834/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8408834</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8408834" 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/10.1016/0190-9622(93)70263-s" target="_blank">Full Text</a>]
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<a id="14" class="mim-anchor"></a>
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<a id="Siciliano1987" class="mim-anchor"></a>
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Siciliano, M. J., Bachinski, L., Dolf, G., Carrano, A. V., Thompson, L. H.
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<strong>Chromosomal assignments of human DNA repair genes that complement Chinese hamster ovary (CHO) cell mutants. (Abstract)</strong>
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Cytogenet. Cell Genet. 46: 691-692, 1987.
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<a id="Thompson1987" class="mim-anchor"></a>
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Thompson, L. H., Carrano, A. V., Sato, K., Salazar, E. P., White, B. F., Stewart, S. A., Minkler, J. L., Siciliano, M. J.
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<strong>Identification of nucleotide-excision-repair genes on human chromosomes 2 and 13 by functional complementation in hamster-human hybrids.</strong>
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Somat. Cell Molec. Genet. 13: 539-551, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3477874/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3477874</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3477874" 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/BF01534495" target="_blank">Full Text</a>]
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<a id="Vermeulen1994" class="mim-anchor"></a>
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Vermeulen, W., Scott, R. J., Rodgers, S., Muller, H. J., Cole, J., Arlett, C. F., Kleijer, W. J., Bootsma, D., Hoeijmakers, J. H. J., Weeda, G.
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<strong>Clinical heterogeneity with xeroderma pigmentosum associated within mutations in the DNA repair and transcription gene ERCC3.</strong>
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Am. J. Hum. Genet. 54: 191-200, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8304337/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8304337</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8304337" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Weeda1997" class="mim-anchor"></a>
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Weeda, G., Eveno, E., Donker, I., Vermeulen, W., Chevallier-Lagente, O., Taieb, A., Stary, A., Hoeijmakers, J. H. J., Mezzina, M., Sarasin, A.
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<strong>A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.</strong>
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Am. J. Hum. Genet. 60: 320-329, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9012405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9012405</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9012405" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="18" class="mim-anchor"></a>
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<a id="Weeda1991" class="mim-anchor"></a>
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Weeda, G., Ma, L., van Ham, R. C. A., van der Eb, A. J., Hoeijmakers, J. H. J.
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<strong>Structure and expression of the human XPBC/ERCC-3 gene involved in DNA repair disorders xeroderma pigmentosum and Cockayne's syndrome.</strong>
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Nucleic Acids Res. 19: 6301-6308, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1956789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1956789</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1956789" 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/nar/19.22.6301" target="_blank">Full Text</a>]
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<a id="19" class="mim-anchor"></a>
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<a id="Weeda1990" class="mim-anchor"></a>
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Weeda, G., van Ham, R. C. A., Vermeulen, W., Bootsma, D., van der Eb, A. J., Hoeijmakers, J. H. J.
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<strong>A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome.</strong>
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Cell 62: 777-791, 1990.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2167179/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2167179</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2167179" 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/10.1016/0092-8674(90)90122-u" target="_blank">Full Text</a>]
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<a id="Weeda1991" class="mim-anchor"></a>
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Weeda, G., Wiegant, J., van der Ploeg, M., Geurts van Kessel, A. H. M., van der Eb, A. J., Hoeijmakers, J. H. J.
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<strong>Localization of the xeroderma pigmentosum group B-correcting gene ERCC3 to human chromosome 2q21.</strong>
|
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Genomics 10: 1035-1040, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1916809/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1916809</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1916809" 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/10.1016/0888-7543(91)90195-k" target="_blank">Full Text</a>]
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<a id="21" class="mim-anchor"></a>
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<a id="Yoder2006" class="mim-anchor"></a>
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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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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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<br />
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 7/6/2007
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<div class="row collapse" id="mimCollapseContributors">
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Cassandra L. Kniffin - reorganized : 12/18/2006<br>Cassandra L. Kniffin - updated : 12/15/2006<br>Paul J. Converse - updated : 4/5/2006<br>Stylianos E. Antonarakis - updated : 5/3/2004<br>Stylianos E. Antonarakis - updated : 3/8/2001<br>Ada Hamosh - updated : 5/24/2000<br>Victor A. McKusick - updated : 7/21/1999<br>Victor A. McKusick - updated : 2/21/1997<br>Victor A. McKusick - updated : 2/10/1997<br>Cynthia K. Ewing - updated : 10/14/1996
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</span>
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 9/2/1987
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carol : 09/16/2022
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mcolton : 06/03/2015<br>carol : 5/29/2015<br>mcolton : 5/29/2015<br>carol : 5/29/2015<br>carol : 9/18/2013<br>carol : 12/3/2010<br>carol : 7/16/2007<br>carol : 7/13/2007<br>ckniffin : 7/6/2007<br>carol : 12/18/2006<br>ckniffin : 12/15/2006<br>mgross : 4/5/2006<br>ckniffin : 6/15/2005<br>mgross : 5/3/2004<br>carol : 3/17/2004<br>mgross : 3/8/2001<br>alopez : 5/25/2000<br>alopez : 5/25/2000<br>carol : 5/24/2000<br>carol : 5/24/2000<br>carol : 5/24/2000<br>jlewis : 7/30/1999<br>terry : 7/21/1999<br>terry : 4/30/1999<br>alopez : 7/7/1997<br>mark : 2/21/1997<br>mark : 2/10/1997<br>terry : 2/10/1997<br>jamie : 10/23/1996<br>jamie : 10/23/1996<br>jamie : 10/14/1996<br>carol : 10/5/1994<br>mimadm : 9/24/1994<br>davew : 8/2/1994<br>jason : 7/20/1994<br>warfield : 4/8/1994<br>carol : 12/22/1993
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<strong>*</strong> 133510
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<h3>
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ERCC EXCISION REPAIR 3, TFIIH CORE COMPLEX HELICASE SUBUNIT; ERCC3
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</h3>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 3<br />
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XPB GENE; XPB
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ERCC3</em></strong>
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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: 2q14.3
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Genomic coordinates <span class="small">(GRCh38)</span> : 2:127,257,290-127,294,144 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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|
Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
|
|
2q14.3
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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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Trichothiodystrophy 2, photosensitive
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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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616390
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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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<tr>
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<td>
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<span class="mim-font">
|
|
Xeroderma pigmentosum, group B
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
|
610651
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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">
|
|
3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<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">
|
|
<strong>Description</strong>
|
|
</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>The human genes correcting the rodent repair defects are termed excision repair cross-complementing, or ERCC, genes. A number appended to the symbol refers to the rodent complementary group that is corrected by the human gene. The human ERCC3 gene product specifically corrects the defect in an early step of the DNA nucleotide excision repair (NER) pathway of UV-sensitive rodent mutants of complementation group 3. See also ERCC1 (126380), ERCC2 (126340), ERCC4 (133520), ERCC5 (133530), and ERCC6 (609413), as well as the XRCC1 (194360) gene that corrects the x-ray sensitivity of the Chinese hamster ovary (CHO) mutant cell line EM9.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Cloning and Expression</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>Weeda et al. (1990) cloned the ERCC3 gene after DNA-mediated gene transfer of HeLa chromosomal DNA into a UV-sensitive CHO mutant in complementation group 3. The deduced 782-residue protein contains several conserved DNA-binding domains, strongly suggesting that it is a DNA repair helicase. </p><p>Mounkes et al. (1992) demonstrated that the 'haywire' gene of Drosophila encodes a protein with 66% identity to the product of the human ERCC3 gene. Park et al. (1992) identified a yeast homolog of human ERCC3, which they termed RAD25, or SSL2. The RAD25 gene encodes an 843-amino acid protein that shares 55% identical and 72% conserved amino acid residues with the human protein. The 2 proteins resemble one another in containing the conserved DNA helicase sequence motifs. </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">
|
|
<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>Weeda et al. (1991) determined that the human ERCC3 gene contains 14 exons and spans approximately 45 kb. The donor splice site of the third exon contains a GC instead of the canonical GT dinucleotide. The promoter region, first exon, and first intron comprise a CpG island with several putative GC boxes. </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">
|
|
<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">
|
|
<p>Using cell hybridization, Siciliano et al. (1987) and Thompson et al. (1987) mapped the ERCC3 gene to chromosome 2q23-qter. </p><p>Weeda et al. (1991) assigned the ERCC3 gene to 2q21 by use of somatic cell hybrids containing a translocated chromosome 2 and by in situ hybridization with fluorescently labeled ERCC3 probes. </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>
|
|
<h4>
|
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<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
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</h4>
|
|
</div>
|
|
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|
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<span class="mim-text-font">
|
|
<p>The XPB gene product is a subunit of the general transcription factor IIH (TFIIH). Weeda et al. (1997) presented evidence that both XPB and XPD (ERCC2; 126340) have dual roles in 2 distinct metabolic processes: DNA repair and transcription. </p><p>In a yeast homolog of human ERCC3, Park et al. (1992) found that a nonsense mutation at codon 799 in RAD25 that deleted the 45 C-terminal amino acid residues conferred UV sensitivity. This mutation showed epistasis in relation to genes in the excision repair group, whereas a synergistic increase in UV sensitivity occurred when it was combined with mutations in genes in other DNA repair pathways, indicating that RAD25 functions in excision repair, but not in other repair, pathways. Park et al. (1992) also showed that RAD25 is an essential gene; a mutation of the lys392 residue to arginine was lethal. Guzder et al. (1994) showed that purified RAD25 protein from Saccharomyces cerevisiae contains single-stranded DNA-dependent ATPase and DNA helicase activities. Extract from a conditional lethal mutant exhibited a thermolabile transcriptional defect that could be corrected by the addition of RAD25, indicating a direct and essential role of that protein in RNA polymerase II transcription. Study of other mutants in which Guzder et al. (1994) could separate RAD25 DNA-repair activity from its transcription function suggested that the RAD25-encoded DNA helicase functions in DNA duplex opening during transcription initiation. </p><p>Schaeffer et al. (1993) identified the ERCC3 gene product as one of the components of the human transcription factor BTF2/TFIIH required for a late step in the initiation of transcription of genes with the class II promoter. ERCC3 is also a DNA repair helicase. The findings of Schaeffer et al. (1993) indicated that transcription and nucleotide excision repair share common factors and hence may be considered to be functionally related. </p><p>Kim et al. (2000) demonstrated that the TFIIH ERCC3 subunit, the DNA helicase responsible for ATP-dependent promoter melting during transcription initiation, does not interact with the promoter region that undergoes melting but instead interacts with DNA downstream of this region. Kim et al. (2000) also demonstrated that promoter melting does not change protein-DNA interactions upstream of the region that undergoes melting, but does change interactions within and downstream of this region. Kim et al. (2000) concluded that their results rule out the proposal that TFIIH functions in promoter melting through a conventional DNA helicase mechanism; they proposed a new model wherein TFIIH functions as a molecular wrench rotating downstream DNA relative to fixed upstream protein-DNA interactions, thereby generating torque on, and melting, the intervening DNA. </p><p>Inherited mutations of the TFIIH helicase subunits XPB or XPD yield overlapping DNA repair and transcription syndromes with increased risk of cancer (see 610651 and 278730, respectively). Clinical features attributed to the transcription defect, however, are subtle and 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>The Rift Valley fever virus (RVFV) is the causative agent of fatal hemorrhagic fever in humans and acute hepatitis in ruminants. Le May et al. (2004) found that infection by RVFV led to a rapid and drastic suppression of host cellular RNA synthesis that paralleled a decrease of the TFIIH transcription factor cellular concentration. The nonstructural viral NSs protein interacted with the p44 component of TFIIH (GTF2H2; 601748) to form nuclear filamentous structures that also contained the XPB subunit of TFIIH. By competing with XPD, the natural partner of p44 within TFIIH, and sequestering p44 and XPB subunits, NSs prevented the assembly of TFIIH subunits, thus destabilizing the normal host cell life. These observations shed light on the mechanism utilized by RVFV to evade the host response. </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 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>Coin et al. (2007) found that XPB interacts with the TFIIH p52 subunit (GTF2H4; 601760) and that the interaction stimulates the ATPase activity of XPB. In vitro studies showed that the TFIIH from an XPB patient with the F99S mutation (133510.0002) was unable to induce the opening of DNA around lesions, due to the incorrect XPB/p52 interaction and lack of ATPase stimulation. Further studies with recombinant mutant XPB proteins showed that the helicase activity of XPB was dispensable for nucleotide excision repair, but its ATPase activity in combination with the helicase activity of XPD was required. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p><strong><em>Xeroderma Pigmentosum Complementation Group B/Cockayne Syndrome</em></strong></p><p>
|
|
In a woman with type B xeroderma pigmentosum/Cockayne syndrome (610651), originally reported by Robbins et al. (1974), Weeda et al. (1990) identified a heterozygous mutation in the ERCC3 gene (133510.0001). Oh et al. (2006) identified a second mutant allele (133510.0005) in this patient. </p><p>In 2 brothers with XPB/Cockayne syndrome (Scott et al., 1993), Vermeulen et al. (1994) identified a heterozygous mutation in the ERCC3 gene (F99S; 133510.0002). Oh et al. (2006) identified a second pathogenic mutation (133510.0008) in these patients. </p><p>Cleaver et al. (1999) reviewed the 3 ERCC3 mutations that had been identified in association with XPB. </p><p>In 2 unrelated patients from Slovenia and Germany, respectively, with severe forms of XPB/Cockayne syndrome with skin and neurologic manifestations, Oh et al. (2006) identified compound heterozygosity for 2 mutations in the ERCC3 gene (133510.0001 and 133510.0006 or 133510.0007). </p><p><strong><em>Trichothiodystrophy 2, Photosensitive</em></strong></p><p>
|
|
Weeda et al. (1997) characterized the nucleotide excision repair defect in 2 patients with a mild form of trichothiodystrophy (TTD2; 616390) and confirmed the assignment of these cases to the complementation group B of XP. The causative mutation was found to be a single base substitution causing a missense mutation (T119P; 133510.0003) in a region of the XPB protein completely conserved in yeast, Drosophila, and human. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Animal Model</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Ercc3-deficient rodent mutants phenotypically resemble human xeroderma pigmentosum (Weeda et al., 1990). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
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</div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>8 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
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|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME</strong>
|
|
</span>
|
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</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
ERCC3, IVS14AS, C-A, -6
|
|
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<br />
|
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|
|
SNP: rs200733704,
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|
|
gnomAD: rs200733704,
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|
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ClinVar: RCV000018050
|
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|
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</span>
|
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</div>
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|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a woman with type B xeroderma pigmentosum/Cockayne syndrome (610651) reported by Robbins et al. (1974), Weeda et al. (1990) identified a heterozygous C-to-A transversion in the splice acceptor sequence of intron 14 of the only ERCC3 allele that was detectably expressed. Whereas the RNA of the patient showed clear hybridization only with a mutant-specific probe, the RNA from her mother showed clear hybridization with both the mutant and wildtype probes. This patient was the first identified with complementation group B xeroderma pigmentosum. </p><p>Hwang et al. (1996) performed detailed in vitro studies of the mutant XPB protein identified by Weeda et al. (1990). As the XPB protein is a subunit of the generalized transcription factor IIH, mutant GTF2H1 (189972) isolated from the patient showed decreased 3-prime to 5-prime XPB helicase activity and decreased DNA-dependent ATPase activities, resulting in a severe DNA nucleotide excision repair (NER) defect (5-10% of wildtype). There was also evidence for a decrease in basal transcription activity. The patient had combined clinical signs of XP and Cockayne syndrome, which Hwang et al. (1996) concluded was consistent with a combined defect in DNA repair and transcription. The typical XP features, such as sun sensitivity, pigmentation abnormalities, and cancer predisposition, were consistent with a defect in NER, whereas dwarfism, neuromyelination defects, deafness, and impaired sexual development may have resulted from decreased transcription. </p><p>Oh et al. (2006) identified heterozygosity for the IVS14AS-6C-A transversion in 2 unrelated patients from Slovenia and Germany, respectively, with severe forms of XPB/Cockayne syndrome with skin and neurologic manifestations. They also confirmed heterozygosity for the mutation in the original patient reported by Robbins et al. (1974) and Weeda et al. (1990). Additional genetic analysis found that all 3 patients were compound heterozygous for the splice site mutation and another pathogenic ERCC3 mutation resulting in truncated proteins (see 133510.0005; 133510.0006; 133510.0007). </p>
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</span>
|
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</div>
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<div>
|
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<br />
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|
</div>
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</div>
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<div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
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</div>
|
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<div>
|
|
<span class="mim-text-font">
|
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|
|
ERCC3, PHE99SER
|
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|
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<br />
|
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|
|
SNP: rs121913045,
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|
|
|
gnomAD: rs121913045,
|
|
|
|
|
|
ClinVar: RCV000018051, RCV005025066
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 brothers with xeroderma pigmentosum type B/Cockayne syndrome (610651) reported by Scott et al. (1993), Vermeulen et al. (1994) identified a heterozygous mutation in the ERCC3 gene, resulting in a phe99-to-ser (F99S) substitution in a highly conserved region of the ERCC3 protein. Phenylalanine is a consistent finding at position 99 with aspartic acid at position 98 and leucine at position 100 in human, mouse, Drosophila, and yeast. Despite equally severe deficiency of nucleotide excision repair as measured in fibroblasts, the patients were much less severely affected than the original patient of Robbins et al. (1974) (see 133510.0001). Oh et al. (2006) identified a second pathogenic ERCC3 mutation (133510.0008) in these brothers. </p><p>In 2 sisters with a relatively mild form of XP without major features of Cockayne syndrome, Oh et al. (2006) identified compound heterozygosity for 2 mutations in the ERCC3 gene: a 296T-C transition in exon 3 of the ERCC3 gene, resulting in an F99S substitution, and R425X (133510.0004). Both patients had XP features of sun sensitivity and freckle-like pigmentation, multiple basal cell carcinomas, and ocular malignant melanomas. The only neurologic signs were childhood-onset progressive sensorineural deafness in both and mild cerebellar ataxia in 1. Each parent was heterozygous for 1 of the mutations. Both sisters gave birth to healthy children. Studies of patient-derived cells showed decreased DNA repair rates and decreased levels of XPB protein. Oh et al. (2006) noted the relatively mild phenotype associated with this mutation. </p>
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|
</span>
|
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</div>
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<div>
|
|
<br />
|
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</div>
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</div>
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<div>
|
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|
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 TRICHOTHIODYSTROPHY 2, PHOTOSENSITIVE</strong>
|
|
</span>
|
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</h4>
|
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</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
ERCC3, THR119PRO
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<br />
|
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|
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SNP: rs121913046,
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|
|
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|
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ClinVar: RCV000018052
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|
|
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</span>
|
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</div>
|
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|
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs, born of consanguineous parents, with photosensitive trichothiodystrophy-2 (TTD2; 616390), Weeda et al. (1997) identified a homozygous thr119-to-pro (T119P) substitution in the ERCC3 gene. The proband, a male, had congenital ichthyosis (collodion baby). The skin condition improved within 3 weeks, leaving a mild ichthyosis of the trunk. TTD was suspected at 3 years of age, on the basis of mild ichthyosis of the trunk, with involvement of the scalp, palms, and soles; mild photosensitivity; lack of second upper incisor; and hair that grew normally but was coarse, with a tiger-tail pattern under polarized light. The diagnosis of TTD was confirmed by analysis of the amino acid content of hair, showing a decrease in cysteine residues. An older affected sister had a similar presentation as a collodion baby with favorable outcome. A diagnosis of TTD was confirmed by hair microscopy and biochemical analysis showing low cysteine content. Both the proband and his sister were in good general health, without physical and mental impairment, at the ages of 10 and 16 years, respectively. </p>
|
|
</span>
|
|
</div>
|
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<div>
|
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<br />
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</div>
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</div>
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<div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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|
|
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<div>
|
|
<span class="mim-text-font">
|
|
|
|
ERCC3, ARG425TER
|
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|
|
|
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<br />
|
|
|
|
SNP: rs121913047,
|
|
|
|
|
|
gnomAD: rs121913047,
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ClinVar: RCV000018053, RCV001851900, RCV002513092, RCV004541009, RCV005025067
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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 2 sisters with a relatively mild form of type B xeroderma pigmentosum without major manifestations of Cockayne syndrome (610651), Oh et al. (2006) identified compound heterozygosity for 2 mutations in the ERCC3 gene: a 1273C-T transition in exon 8, resulting in an arg425-to-ter (R425X) substitution, and F99S (133510.0002). Each parent was heterozygous for 1 of the mutations. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0005 XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME</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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ERCC3, 2-BP DEL, 807TT
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<br />
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SNP: rs866379139,
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gnomAD: rs866379139,
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ClinVar: RCV000018054, RCV002513093
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with a severe form of type B xeroderma pigmentosum/Cockayne syndrome (610651) first reported by Robbins et al. (1974), Oh et al. (2006) identified compound heterozygosity for 2 mutations in the ERCC3 gene: a splice site mutation (133510.0001) and a 2-bp deletion (807delTT). The 2-bp deletion was inherited from the patient's father. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0006 XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME</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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ERCC3, 1-BP INS, 1421A
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<br />
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SNP: rs587778281,
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gnomAD: rs587778281,
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ClinVar: RCV000018055, RCV000120802, RCV000482017, RCV002255296, RCV002477310, RCV004757130
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a patient with a severe form of type B xeroderma pigmentosum/Cockayne syndrome (610651), Oh et al. (2006) identified compound heterozygosity for 2 mutations in the ERCC3 gene: a splice site mutation (133510.0001) and a 1-bp insertion (1421insA) in exon 9, resulting in a frameshift and premature termination of the protein at codon 475. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0007 XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME</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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ERCC3, GLN545TER
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<br />
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SNP: rs121913048,
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gnomAD: rs121913048,
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ClinVar: RCV000018056, RCV005089269
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a patient with a severe form of type B xeroderma pigmentosum/Cockayne syndrome (610651), Oh et al. (2006) identified compound heterozygosity for 2 mutations in the ERCC3 gene: a splice site mutation (133510.0001) and a 1633C-T transition in exon 10, resulting in a gln545-to-ter (Q545X) substitution. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0008 XERODERMA PIGMENTOSUM B/COCKAYNE SYNDROME</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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ERCC3, IVS3DS, G-A, +1
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<br />
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SNP: rs1558964705,
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|
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ClinVar: RCV000018057, RCV003226162
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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 2 adult brothers with type B xeroderma pigmentosum/Cockayne syndrome (610651), Oh et al. (2006) identified a heterozygous G-to-A transition at the +1 position of intron 3 (IVS3DS+1G-A) of the ERCC3 gene, resulting in premature termination of the protein at codon 162. The mother also carried the mutation. These brothers had been shown by Vermeulen et al. (1994) to also have a heterozygous mutation in the ERCC3 gene (F99S; 133510.0002). Both men had early onset of severe sunburn and freckle-like skin pigmentation. Other features included short stature, early-onset sensorineural hearing loss, immature sexual development, and late-onset neurologic impairment with hyperreflexia, demyelinating neuropathy, enlarged cerebral ventricles, and retinopathy. Neither patient had skin cancers. </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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<p />
|
|
</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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|
Cleaver, J. E., Thompson, L. H., Richardson, A. S., States, J. C.
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|
<strong>A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.</strong>
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Hum. Mutat. 14: 9-22, 1999.
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[PubMed: 10447254]
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[Full Text: https://doi.org/10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6]
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<p class="mim-text-font">
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Coin, F., Oksenych, V., Egly, J.-M.
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<p class="mim-text-font">
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Guzder, S. N., Sung, P., Bailly, V., Prakash, L., Prakash, S.
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<strong>RAD25 is a DNA helicase required for DNA repair and RNA polymerase II transcription.</strong>
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Nature 369: 578-581, 1994.
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[PubMed: 8202161]
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<p class="mim-text-font">
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Hwang, J. R., Moncollin, V., Vermeulen, W., Seroz, T., van Vuuren, H., Hoeijmakers, J. H. J., Egly, J. M.
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<strong>A 3-prime to 5-prime helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription.</strong>
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<p class="mim-text-font">
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Kim, T.-K., Ebright, R. H., Reinberg, D.
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<strong>Mechanism of ATP-dependent promoter melting by transcription factor IIH.</strong>
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Science 288: 1418-1421, 2000.
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[PubMed: 10827951]
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[Full Text: https://doi.org/10.1126/science.288.5470.1418]
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<li>
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<p class="mim-text-font">
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Le May, N., Dubaele, S., De Santis, L. P., Billecocq, A., Bouloy, M., Egly, J.-M.
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<strong>TFIIH transcription factor, a target for the Rift Valley hemorrhagic fever virus.</strong>
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Cell 116: 541-550, 2004.
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[PubMed: 14980221]
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[Full Text: https://doi.org/10.1016/s0092-8674(04)00132-1]
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<p class="mim-text-font">
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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.
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<strong>Defective interplay of activators and repressors with TFIIH in xeroderma pigmentosum.</strong>
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Cell 104: 353-363, 2001.
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[PubMed: 11239393]
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[Full Text: https://doi.org/10.1016/s0092-8674(01)00223-9]
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</p>
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<li>
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<p class="mim-text-font">
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Mounkes, L. C., Jones, R. S., Liang, B.-C., Gelbart, W., Fuller, M. T.
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<strong>A Drosophila model for xeroderma pigmentosum and Cockayne's syndrome: haywire encodes the fly homolog of ERCC3, a human excision repair gene.</strong>
|
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Cell 71: 925-937, 1992.
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[PubMed: 1458540]
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[Full Text: https://doi.org/10.1016/0092-8674(92)90389-t]
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<p class="mim-text-font">
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Oh, K.-S., Khan, S. G., Jaspers, N. G. J., Raams, A., Ueda, T., Lehmann, A., Friedmann, P. S., Emmert, S., Gratchev, A., Lachlan, K., Lucassan, A., Baker, C. C., Kraemer, K. H.
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<strong>Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.</strong>
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Hum. Mutat. 27: 1092-1103, 2006.
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<p class="mim-text-font">
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Park, E., Guzder, S. N., Koken, M. H. M., Jaspers-Dekker, I., Weeda, G., Hoeijmakers, J. H. J., Prakash, S., Prakash, L.
|
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<strong>RAD25(SSL2), the yeast homolog of the human xeroderma pigmentosum group B DNA repair gene, is essential for viability.</strong>
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Proc. Nat. Acad. Sci. 89: 11416-11420, 1992.
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[PubMed: 1333609]
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[Full Text: https://doi.org/10.1073/pnas.89.23.11416]
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Robbins, J. H., Kraemer, K. H., Lutzner, M. A., Festoff, B. W., Coon, H. G.
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<strong>Xeroderma pigmentosum: an inherited disease with sun sensitivity, multiple cutaneous neoplasms and abnormal DNA repair.</strong>
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Ann. Intern. Med. 80: 221-248, 1974.
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<p class="mim-text-font">
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Schaeffer, L., Roy, R., Humbert, S., Moncollin, V., Vermeulen, W., Hoeijmakers, J. H. J., Chambon, P., Egly, J-M.
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<strong>DNA repair helicase: a component of BTF2 (THFIIH) basic transcription factor.</strong>
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Science 260: 58-63, 1993.
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[PubMed: 8465201]
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[Full Text: https://doi.org/10.1126/science.8465201]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Scott, R. J., Itin, P., Kleijer, W. J., Kolb, K., Arlett, C., Muller, H.
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<strong>Xeroderma pigmentosum-Cockayne syndrome complex in two patients: absence of skin tumors despite severe deficiency of DNA excision repair.</strong>
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J. Am. Acad. Derm. 29: 883-889, 1993.
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[PubMed: 8408834]
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[Full Text: https://doi.org/10.1016/0190-9622(93)70263-s]
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</p>
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<li>
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<p class="mim-text-font">
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Siciliano, M. J., Bachinski, L., Dolf, G., Carrano, A. V., Thompson, L. H.
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<strong>Chromosomal assignments of human DNA repair genes that complement Chinese hamster ovary (CHO) cell mutants. (Abstract)</strong>
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Cytogenet. Cell Genet. 46: 691-692, 1987.
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</p>
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<li>
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<p class="mim-text-font">
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Thompson, L. H., Carrano, A. V., Sato, K., Salazar, E. P., White, B. F., Stewart, S. A., Minkler, J. L., Siciliano, M. J.
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<strong>Identification of nucleotide-excision-repair genes on human chromosomes 2 and 13 by functional complementation in hamster-human hybrids.</strong>
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Somat. Cell Molec. Genet. 13: 539-551, 1987.
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[PubMed: 3477874]
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[Full Text: https://doi.org/10.1007/BF01534495]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Vermeulen, W., Scott, R. J., Rodgers, S., Muller, H. J., Cole, J., Arlett, C. F., Kleijer, W. J., Bootsma, D., Hoeijmakers, J. H. J., Weeda, G.
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<strong>Clinical heterogeneity with xeroderma pigmentosum associated within mutations in the DNA repair and transcription gene ERCC3.</strong>
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Am. J. Hum. Genet. 54: 191-200, 1994.
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[PubMed: 8304337]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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|
Weeda, G., Eveno, E., Donker, I., Vermeulen, W., Chevallier-Lagente, O., Taieb, A., Stary, A., Hoeijmakers, J. H. J., Mezzina, M., Sarasin, A.
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<strong>A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.</strong>
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Am. J. Hum. Genet. 60: 320-329, 1997.
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[PubMed: 9012405]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Weeda, G., Ma, L., van Ham, R. C. A., van der Eb, A. J., Hoeijmakers, J. H. J.
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<strong>Structure and expression of the human XPBC/ERCC-3 gene involved in DNA repair disorders xeroderma pigmentosum and Cockayne's syndrome.</strong>
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Nucleic Acids Res. 19: 6301-6308, 1991.
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[PubMed: 1956789]
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[Full Text: https://doi.org/10.1093/nar/19.22.6301]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Weeda, G., van Ham, R. C. A., Vermeulen, W., Bootsma, D., van der Eb, A. J., Hoeijmakers, J. H. J.
|
|
<strong>A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome.</strong>
|
|
Cell 62: 777-791, 1990.
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|
|
|
[PubMed: 2167179]
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|
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[Full Text: https://doi.org/10.1016/0092-8674(90)90122-u]
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</p>
|
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</li>
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<li>
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<p class="mim-text-font">
|
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Weeda, G., Wiegant, J., van der Ploeg, M., Geurts van Kessel, A. H. M., van der Eb, A. J., Hoeijmakers, J. H. J.
|
|
<strong>Localization of the xeroderma pigmentosum group B-correcting gene ERCC3 to human chromosome 2q21.</strong>
|
|
Genomics 10: 1035-1040, 1991.
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[PubMed: 1916809]
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[Full Text: https://doi.org/10.1016/0888-7543(91)90195-k]
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</p>
|
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</li>
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<li>
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<p class="mim-text-font">
|
|
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>
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Proc. Nat. Acad. Sci. 103: 4622-4627, 2006.
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[PubMed: 16537383]
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[Full Text: https://doi.org/10.1073/pnas.0509828103]
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Cassandra L. Kniffin - updated : 7/6/2007<br>Cassandra L. Kniffin - reorganized : 12/18/2006<br>Cassandra L. Kniffin - updated : 12/15/2006<br>Paul J. Converse - updated : 4/5/2006<br>Stylianos E. Antonarakis - updated : 5/3/2004<br>Stylianos E. Antonarakis - updated : 3/8/2001<br>Ada Hamosh - updated : 5/24/2000<br>Victor A. McKusick - updated : 7/21/1999<br>Victor A. McKusick - updated : 2/21/1997<br>Victor A. McKusick - updated : 2/10/1997<br>Cynthia K. Ewing - updated : 10/14/1996
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Victor A. McKusick : 9/2/1987
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