5838 lines
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Entry
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- *133530 - ERCC EXCISION REPAIR 5, ENDONUCLEASE; ERCC5
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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">*133530</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#nomenclature">Nomenclature</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#history">History</a>
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<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/133530">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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</div>
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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=ENSG00000134899;t=ENST00000652225" 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=2073" 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=133530" 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=ENSG00000134899;t=ENST00000652225" 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_000123" 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_000123" 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=133530" 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=00595&isoform_id=00595_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/ERCC5" 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/298111,303607,306742,825732,9587152,9587153,9587154,21619256,24079971,33187721,119629476,119629477,194378226,194382824,194389372,205371791,685394249,1780199937" 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/P28715" 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=2073" 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=ENSG00000134899;t=ENST00000652225" 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=ERCC5" 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=ERCC5" 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+2073" 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/ERCC5" 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:2073" 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/2073" 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=chr13&hgg_gene=ENST00000652225.2&hgg_start=102846032&hgg_end=102875995&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:3437" 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:3437" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=133530[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=133530[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/ERCC5/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000134899" 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=ERCC5" 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=ERCC5" 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=ERCC5" 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=ERCC5&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/PA27851" 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:3437" 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/FBgn0002887.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:103582" 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/ERCC5#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:103582" 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/2073/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=2073" 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=WBGene00019004;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-050327-28" 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">
|
|
<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">
|
|
<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:133530" 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">
|
|
<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:2073" 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=ERCC5&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>
|
|
<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 36454001<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
|
133530
|
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</span>
|
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</span>
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</div>
|
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</div>
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
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<span class="mim-font">
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ERCC EXCISION REPAIR 5, ENDONUCLEASE; ERCC5
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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>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5<br />
|
|
ERCM2<br />
|
|
UV DAMAGE, EXCISION REPAIR OF, UV-135; UVDR<br />
|
|
RAD2, YEAST, HOMOLOG OF<br />
|
|
XERODERMA PIGMENTOSUM, GROUP G CORRECTING PROTEIN; XPGC<br />
|
|
XPG GENE; XPG
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ERCC5" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ERCC5</a></em></strong>
|
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</span>
|
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</p>
|
|
</div>
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/13/298?start=-3&limit=10&highlight=298">13q33.1</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr13:102846032-102875995&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'})">13:102,846,032-102,875,995</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
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|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=616570,278780,278780" 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="3">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/13/298?start=-3&limit=10&highlight=298">
|
|
13q33.1
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
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<p>The human genes correcting DNA 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 ERCC5 gene corrects the excision repair deficiency of Chinese hamster ovary cell line UV135 of complementation group 5. The human ERCC5 gene product is a structure-specific endonuclease required for making the 3-prime incision during DNA nucleotide excision repair (NER). See also ERCC1 (<a href="/entry/126380">126380</a>), ERCC2 (<a href="/entry/126340">126340</a>), ERCC3 (<a href="/entry/133510">133510</a>), ERCC4 (<a href="/entry/133520">133520</a>), and ERCC6 (<a href="/entry/609413">609413</a>).</p>
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<p><a href="#24" class="mim-tip-reference" title="Mudgett, J. S., MacInnes, M. A. <strong>Isolation of the functional human excision repair gene ERCC5 by intercosmid recombination.</strong> Genomics 8: 623-633, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2276736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2276736</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90248-s" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2276736">Mudgett and MacInnes (1990)</a> isolated the complete human ERCC5 gene on overlapping cosmids. The functional gene was found to be 32 kb long. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2276736" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#23" class="mim-tip-reference" title="MacInnes, M. A., Dickson, J. A., Hernandez, R. R., Learmonth, D., Lin, G. Y., Mudgett, J. S., Park, M. S., Schauer, S., Reynolds, R. J., Strniste, G. F., Yu, J. Y. <strong>Human ERCC5 cDNA-cosmid complementation for excision repair and bipartite amino acid domains conserved with RAD proteins of Saccharomyces cerevisiae and Schizosaccharomyces pombe.</strong> Molec. Cell. Biol. 13: 6393-6402, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8413238/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8413238</a>] [<a href="https://doi.org/10.1128/mcb.13.10.6393-6402.1993" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8413238">MacInnes et al. (1993)</a> isolated clones corresponding to the ERCC5 gene from human cDNA libraries. The deduced 1,186-residue protein has a molecular mass of 133 kD and shows sequence and structural similarity to yeast RAD2, which is involved in the nucleotide excision repair pathway. The human mRNA was 4.6 kb. Further analysis suggested that the protein is nuclear-located with highly conserved helix-loop-helix segments. <a href="#35" class="mim-tip-reference" title="Shiomi, T., Harada, Y., Saito, T., Shiomi, N., Okuno, Y., Yamaizumi, M. <strong>An ERCC5 gene with homology to yeast RAD2 is involved in group G xeroderma pigmentosum.</strong> Mutat. Res. 314: 167-175, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7510366/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7510366</a>] [<a href="https://doi.org/10.1016/0921-8777(94)90080-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7510366">Shiomi et al. (1994)</a> isolated clones corresponding to both the mouse and human ERCC5 genes and confirmed that XPG and ERCC5 are identical. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7510366+8413238" 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="Emmert, S., Schneider, T. D., Khan, S. G., Kraemer, K. H. <strong>The human XPG gene: gene architecture, alternative splicing and single nucleotide polymorphisms.</strong> Nucleic Acids Res. 29: 1443-1452, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11266544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11266544</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11266544[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/nar/29.7.1443" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11266544">Emmert et al. (2001)</a> identified 6 alternatively spliced isoforms of the XPG gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11266544" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#33" class="mim-tip-reference" title="Scherly, D., Nouspikel, T., Corlet, J., Ucla, C., Bairoch, A., Clarkson, S. G. <strong>Complementation of the DNA repair defect in xeroderma pigmentosum group G cells by a human cDNA related to yeast RAD2.</strong> Nature 363: 182-185, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8483504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8483504</a>] [<a href="https://doi.org/10.1038/363182a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8483504">Scherly et al. (1993)</a> isolated frog and human cDNAs encoding proteins resembling RAD2. Alignment of these 3 polypeptides, together with 2 other RAD2-related proteins, demonstrated that their conserved sequences are largely confined to 2 regions. Expression of the human cDNA in vivo restored to normal the sensitivity to ultraviolet light and unscheduled DNA synthesis of lymphoblastoid cells from XP group G (<a href="/entry/278780">278780</a>), but not those from Cockayne syndrome group A (CSA; <a href="/entry/216400">216400</a>). The XPG-complementing protein (XPGC) was generated from an mRNA of approximately 4 kb that was present in normal amounts in the XPG cell line. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8483504" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#29" class="mim-tip-reference" title="O'Donovan, A., Scherly, D., Clarkson, S. G., Wood, R. D. <strong>Isolation of active recombinant XPG protein, a human DNA repair endonuclease.</strong> J. Biol. Chem. 269: 15965-15968, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8206890/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8206890</a>]" pmid="8206890">O'Donovan et al. (1994)</a> reported the isolation of full-length XPG as a soluble protein expressed from a recombinant baculovirus. The purified polypeptide corrected the DNA nucleotide excision repair defect of XPG cell extracts in vitro and acted as a magnesium-dependent single-stranded DNA endonuclease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8206890" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Harada, Y.-N., Matsuda, Y., Shiomi, N., Shiomi, T. <strong>Complementary DNA sequence and chromosomal localization of xpg, the mouse counterpart of human repair gene XPG/ERCC5.</strong> Genomics 28: 59-65, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7590748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7590748</a>] [<a href="https://doi.org/10.1006/geno.1995.1106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7590748">Harada et al. (1995)</a> demonstrated that the mouse Xpg cDNA has a single long open reading frame predicted to encode a 1,170-residue protein with a molecular mass of 130.8 kD. The Xpg gene expressed a single 4.3-kb mRNA transcript at similar levels in 5 mouse tissues examined. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7590748" 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="#8" class="mim-tip-reference" title="Emmert, S., Schneider, T. D., Khan, S. G., Kraemer, K. H. <strong>The human XPG gene: gene architecture, alternative splicing and single nucleotide polymorphisms.</strong> Nucleic Acids Res. 29: 1443-1452, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11266544/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11266544</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11266544[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/nar/29.7.1443" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11266544">Emmert et al. (2001)</a> determined that the human XPG gene contains 15 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11266544" 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 somatic cell hybrids between a UV-sensitive mutant mouse cell line and normal human lymphocytes, <a href="#16" class="mim-tip-reference" title="Hori, T., Shiomi, T., Sato, K. <strong>Human chromosome 13 compensates a DNA repair defect in UV-sensitive mouse cells by mouse-human cell hybridization.</strong> Proc. Nat. Acad. Sci. 80: 5655-5659, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6577448/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6577448</a>] [<a href="https://doi.org/10.1073/pnas.80.18.5655" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6577448">Hori et al. (1983)</a> found that a gene on human chromosome 13 was able to compensate for an autosomal recessive DNA excision repair defect in mouse cell line Q31. <a href="#36" 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="#39" 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> assigned ERCC5 to chromosome 13 by study of somatic cell hybrids between normal human cells and Chinese hamster cells defective in UV-induced nucleotide excision repair (UV135, complementation group 5). Study of hybrid cells containing rearranged human chromosomes indicated that the ERCC5 locus is situated in the region 13q14-q34. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3477874+6577448" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Gersen, S., Warburton, D., Jackson, C. L., Housman, D. <strong>Regional localization of the excision repair gene ERCC5 on chromosome 13. (Abstract)</strong> Cytogenet. Cell Genet. 51: 1003 only, 1989."None>Gersen et al. (1989)</a> used somatic cell hybrids containing fragments of chromosome 13 to localize ERCC5 to human chromosome 13q22-qter. By fluorescence in situ hybridization, <a href="#43" class="mim-tip-reference" title="Warburton, D., Yu, M.-T., Richardson, C., Mudgett, J. S., MacInnes, M. A. <strong>Human excision repair gene ERCC5 maps to 13q32-q33 by in situ hybridization and also cross-hybridizes to 10q11, the site of ERCC6. (Abstract)</strong> Cytogenet. Cell Genet. 58: 1984 only, 1991."None>Warburton et al. (1991)</a> mapped the ERCC5 gene to 13q32-qter but also found a strong hybridization signal at 10q11 where ERCC6 is located.</p><p>By fluorescence in situ hybridization, <a href="#38" class="mim-tip-reference" title="Takahashi, E., Shiomi, N., Shiomi, T. <strong>Precise localization of the excision repair gene, ERCC5, to human chromosome 13q32.3-q33.1 by direct R-banding fluorescence in situ hybridization.</strong> Jpn. J. Cancer Res. 83: 1117-1119, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1483924/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1483924</a>] [<a href="https://doi.org/10.1111/j.1349-7006.1992.tb02731.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1483924">Takahashi et al. (1992)</a> mapped the ERCC5 gene to 13q32.3-q33.1. By the same method, <a href="#31" class="mim-tip-reference" title="Samec, S., Jones, T. A., Corlet, J., Scherly, D., Sheer, D., Wood, R. D., Clarkson, S. G. <strong>The human gene for xeroderma pigmentosum complementation group G (XPG) maps to 13q33 by fluorescence in situ hybridization.</strong> Genomics 21: 283-285, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8088806/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8088806</a>] [<a href="https://doi.org/10.1006/geno.1994.1261" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8088806">Samec et al. (1994)</a> assigned the XPG gene to 13q33. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8088806+1483924" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By in situ hybridization and by molecular linkage analysis, <a href="#15" class="mim-tip-reference" title="Harada, Y.-N., Matsuda, Y., Shiomi, N., Shiomi, T. <strong>Complementary DNA sequence and chromosomal localization of xpg, the mouse counterpart of human repair gene XPG/ERCC5.</strong> Genomics 28: 59-65, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7590748/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7590748</a>] [<a href="https://doi.org/10.1006/geno.1995.1106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7590748">Harada et al. (1995)</a> mapped the mouse Xpg gene 2.3 cM proximal to the microsatellite locus D1Mit18 on the R-positive B band of chromosome 1. The rat homolog was localized to chromosome 9q22.3, which had been known to have a conserved linkage homology to mouse chromosome 1. The assignment of human XPG to chromosome 13q32.3-q33.1 represents an area where no conserved linkage homology to mouse chromosome 1 had previously been found. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7590748" 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="#30" class="mim-tip-reference" title="O'Donovan, A., Wood, R. D. <strong>Identical defects in DNA repair in xeroderma pigmentosum group G and rodent ERCC group 5.</strong> Nature 363: 185-188, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8483505/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8483505</a>] [<a href="https://doi.org/10.1038/363185a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8483505">O'Donovan and Wood (1993)</a> found that the DNA repair deficiency of XPG cell extracts could be corrected by addition of protein fractions from normal cells and by mixing XPG cell extracts with extracts from different repair-defective cell lines, except from cells representing ERCC5 rodent mutants. XPG and group 5 correcting activities co-eluted after approximately 1,000-fold purification from HeLa cells. An antibody directed against a fragment of the XPG protein inhibited excision repair by normal cell extracts, and activity could be restored with an XPG/group 5 complementing fraction. These data suggested that XPG and ERCC5 are identical proteins. <a href="#28" class="mim-tip-reference" title="O'Donovan, A., Davies, A. A., Moggs, J. G., West, S. C., Wood, R. D. <strong>XPG endonuclease makes the 3-prime incision in human DNA nucleotide excision repair.</strong> Nature 371: 432-435, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8090225/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8090225</a>] [<a href="https://doi.org/10.1038/371432a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8090225">O'Donovan et al. (1994)</a> showed that the XPG endonuclease cleaves the damaged DNA strand 3-prime to the lesion during nucleotide excision repair. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8090225+8483505" 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="Habraken, Y., Sung, P., Prakash, L., Prakash, S. <strong>Human xeroderma pigmentosum group G gene encodes a DNA endonuclease.</strong> Nucleic Acids Res. 22: 3312-3316, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8078765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8078765</a>] [<a href="https://doi.org/10.1093/nar/22.16.3312" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8078765">Habraken et al. (1994)</a> expressed the XPG-encoded protein in Sf9 insect cells and purified it to homogeneity. They demonstrated that XPG is a single-strand specific DNA endonuclease, thus identifying the catalytic role of the protein in nucleotide excision repair. They suggested that XPG nuclease acts on the single-stranded region created as a result of the combined action of the XPB helicase and XPD helicase at the DNA damage site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8078765" 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>TFIIH (see <a href="/entry/189972">189972</a>) is a multisubunit transcription factor complex involved in nucleotide excision repair. In humans, mutations in the TFIIH subunits XPD (<a href="/entry/126340">126340</a>) and XPB (<a href="/entry/133510">133510</a>), the counterparts of the yeast RAD3 and RAD25 genes, respectively, cause Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. In yeast studies, <a href="#13" class="mim-tip-reference" title="Habraken, Y., Sung, P., Prakash, S., Prakash, L. <strong>Transcription factor TFIIH and DNA endonuclease Rad2 constitute yeast nucleotide excision repair factor 3: implications for nucleotide excision repair and Cockayne syndrome.</strong> Proc. Nat. Acad. Sci. 93: 10718-10722, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8855246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8855246</a>] [<a href="https://doi.org/10.1073/pnas.93.20.10718" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8855246">Habraken et al. (1996)</a> found that RAD2 forms a stable subassembly with TFIIH, which they designated nucleotide excision repair factor-3 (NEF3). Association with TFIIH provided a means of targeting RAD2 to the damaged site, where its endonuclease activity would mediate the 3-prime incision. <a href="#13" class="mim-tip-reference" title="Habraken, Y., Sung, P., Prakash, S., Prakash, L. <strong>Transcription factor TFIIH and DNA endonuclease Rad2 constitute yeast nucleotide excision repair factor 3: implications for nucleotide excision repair and Cockayne syndrome.</strong> Proc. Nat. Acad. Sci. 93: 10718-10722, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8855246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8855246</a>] [<a href="https://doi.org/10.1073/pnas.93.20.10718" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8855246">Habraken et al. (1996)</a> speculated that mutations in XPB, XPD, and XPG that result in Cockayne syndrome all impair TFIIH function in a similar manner by resulting in a deficiency in the rate of elongation of certain transcripts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8855246" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#42" class="mim-tip-reference" title="Volker, M., Mone, M. J., Karmakar, P., van Hoffen, A., Schul, W., Vermeulen, W., Hoeijmakers, J. H. J., van Driel, R., van Zeeland, A. A., Mullenders, L. H. F. <strong>Sequential assembly of the nucleotide excision repair factors in vivo.</strong> Molec. Cell 8: 213-224, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11511374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11511374</a>] [<a href="https://doi.org/10.1016/s1097-2765(01)00281-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11511374">Volker et al. (2001)</a> described the assembly of the NER complex in normal and repair-deficient (xeroderma pigmentosum) human cells by employing a novel technique of local ultraviolet irradiation combined with fluorescent antibody labeling. The damage-recognition complex XPC (<a href="/entry/613208">613208</a>)-HR23B (RAD23B; <a href="/entry/600062">600062</a>) appeared to be essential for the recruitment of all subsequent NER factors in the preincision complex, including transcription repair factor TFIIH. <a href="#42" class="mim-tip-reference" title="Volker, M., Mone, M. J., Karmakar, P., van Hoffen, A., Schul, W., Vermeulen, W., Hoeijmakers, J. H. J., van Driel, R., van Zeeland, A. A., Mullenders, L. H. F. <strong>Sequential assembly of the nucleotide excision repair factors in vivo.</strong> Molec. Cell 8: 213-224, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11511374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11511374</a>] [<a href="https://doi.org/10.1016/s1097-2765(01)00281-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11511374">Volker et al. (2001)</a> found that XPA (<a href="/entry/611153">611153</a>) associated relatively late, was required for anchoring of subsequent subunits, and appeared to be essential for activation of the endonuclease activity of XPG. These findings identified XPC as the earliest known NER factor in the reaction mechanism and supported a concept of sequential assembly of repair proteins at the site of damage rather than a preassembled 'repairosome.' <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11511374" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#21" class="mim-tip-reference" title="Lee, S.-K., Yu, S.-L., Prakash, L., Prakash, S. <strong>Requirement of yeast RAD2, a homolog of human XPG gene, for efficient RNA polymerase II transcription: implications for Cockayne syndrome.</strong> Cell 109: 823-834, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12110180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12110180</a>] [<a href="https://doi.org/10.1016/s0092-8674(02)00795-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12110180">Lee et al. (2002)</a> provided evidence that S. cerevisiae Rad2 is involved in promoting efficient RNA polymerase II transcription. Inactivation of Rad26, the S. cerevisiae counterpart of the human ERCC6 gene, also caused a deficiency in transcription, and a synergistic decline in transcription occurred in the absence of both the Rad2 and Rad26 genes. Growth was also retarded in Rad2-deletion and Rad26-deletion single mutant strains, and a very severe growth inhibition was seen in Rad2-deletion/Rad26-deletion double mutants. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12110180" 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="#32" class="mim-tip-reference" title="Sarker, A. H., Tsutakawa, S. E., Kostek, S., Ng, C., Shin, D. S., Peris, M., Campeau, E., Tainer, J. A., Nogales, E., Cooper, P. K. <strong>Recognition of RNA polymerase II and transcription bubbles by XPG, CSB, and TFIIH: insights for transcription-coupled repair and Cockayne syndrome.</strong> Molec. Cell 20: 187-198, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16246722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16246722</a>] [<a href="https://doi.org/10.1016/j.molcel.2005.09.022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16246722">Sarker et al. (2005)</a> found that XPG interacted with elongating RNA polymerase II in HeLa cells and bound stalled ternary complexes in vitro both independently and cooperatively with ERCC6. XPG bound transcription-sized DNA bubbles, through 2 domains not required for incision, stimulated ERCC6 binding to DNA bubbles and enhanced the ATPase activity of ERCC6. Bound RNA polymerase II blocked bubble incision by XPG, but an ATP hydrolysis-dependent process involving TFIIH created access to the junction, allowing incision. <a href="#32" class="mim-tip-reference" title="Sarker, A. H., Tsutakawa, S. E., Kostek, S., Ng, C., Shin, D. S., Peris, M., Campeau, E., Tainer, J. A., Nogales, E., Cooper, P. K. <strong>Recognition of RNA polymerase II and transcription bubbles by XPG, CSB, and TFIIH: insights for transcription-coupled repair and Cockayne syndrome.</strong> Molec. Cell 20: 187-198, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16246722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16246722</a>] [<a href="https://doi.org/10.1016/j.molcel.2005.09.022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16246722">Sarker et al. (2005)</a> concluded that coordinated recognition of stalled transcription by XPG and ERCC6 initiates transcription-coupled repair, and that TFIIH-dependent remodeling of stalled RNA polymerase II without release may be sufficient to allow repair. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16246722" 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="#17" class="mim-tip-reference" title="Ito, S., Kuraoka, I., Chymkowitch, P., Compe, E., Takedachi, A., Ishigami, C., Coin, F., Egly, J.-M., Tanaka, K. <strong>XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients.</strong> Molec. Cell 26: 231-243, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17466625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17466625</a>] [<a href="https://doi.org/10.1016/j.molcel.2007.03.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17466625">Ito et al. (2007)</a> found that XPG forms a stable complex with TFIIH and that the complex was able to repair damaged DNA in an in vitro assay of NER using cell extracts from XPB, XPD, or XPG cells. A mutation in the XPG gene that lacked the C terminus (<a href="#0003">133530.0003</a>) and was unable to bind TFIIH resulted in a severe phenotype with XPG/Cockayne syndrome, whereas a missense mutation (<a href="#0002">133530.0002</a>) that retained the C terminus region and had the ability to bind TFIIH resulted in a milder XPG phenotype. Mutations in the XPG gene that disrupted the C terminal and prevented the association with TFIIH also resulted in the disassociation of CAK (CCNH; <a href="/entry/601953">601953</a>) and XPD from TFIIH. Further in vitro studies showed that XPG cells were deficient in ligand-induced transactivation of nuclear receptors due to hypophosphorylation resulting from the disintegration of TFIIH subunits. <a href="#17" class="mim-tip-reference" title="Ito, S., Kuraoka, I., Chymkowitch, P., Compe, E., Takedachi, A., Ishigami, C., Coin, F., Egly, J.-M., Tanaka, K. <strong>XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients.</strong> Molec. Cell 26: 231-243, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17466625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17466625</a>] [<a href="https://doi.org/10.1016/j.molcel.2007.03.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17466625">Ito et al. (2007)</a> suggested that defective transactivation of nuclear receptors may account for some of the variable phenotypic features associated with XPG/Cockayne syndrome, such as growth failure and hypogonadism. The findings indicated that XPG plays a role in the stabilization of TFIIH and in the regulation of gene expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17466625" 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="#26" class="mim-tip-reference" title="Nouspikel, T., Clarkson, S. G. <strong>Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient.</strong> Hum. Molec. Genet. 3: 963-967, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7951246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7951246</a>] [<a href="https://doi.org/10.1093/hmg/3.6.963" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7951246">Nouspikel and Clarkson (1994)</a> found that 2 sibs with xeroderma pigmentosum complementation group G (XPG; <a href="/entry/278780">278780</a>) were compound heterozygous for 2 point mutations in the ERCC5 gene (<a href="#0001">133530.0001</a>; <a href="#0002">133530.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7951246" 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="Lalle, P., Nouspikel, T., Constantinou, A., Thorel, F., Clarkson, S. G. <strong>The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.</strong> J. Invest. Derm. 118: 344-351, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11841555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11841555</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01673.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11841555">Lalle et al. (2002)</a> found that the first 2 patients reported with XPG (<a href="#2" class="mim-tip-reference" title="Cheesbrough, M. J. <strong>Xeroderma pigmentosum--a unique variant with neurological involvement.</strong> Brit. J. Derm. 99 (Suppl. 16): 61 only, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/698095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">698095</a>]" pmid="698095">Cheesbrough, 1978</a>; <a href="#19" class="mim-tip-reference" title="Keijzer, W., Jaspers, N. G. J., Abrahams, P. J., Taylor, A. M. R., Arlett, C. F., Zelle, B., Takebe, H., Kinmont, P. D. S., Bootsma, D. <strong>A seventh complementation group in excision-deficient xeroderma pigmentosum.</strong> Mutat. Res. 62: 183-190, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/492197/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">492197</a>] [<a href="https://doi.org/10.1016/0027-5107(79)90231-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="492197">Keijzer et al., 1979</a>; <a href="#1" class="mim-tip-reference" title="Arlett, C. F., Harcourt, S. A., Lehman, A. R., Stevens, S., Ferguson-Smith, M. A., Morley, W. N. <strong>Studies on a new case of xeroderma pigmentosum (XP3BR) from complementation group G with cellular sensitivity to ionizing radiation.</strong> Carcinogenesis 1: 745-751, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11219864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11219864</a>] [<a href="https://doi.org/10.1093/carcin/1.9.745" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11219864">Arlett et al., 1980</a>) produced XPG protein with severely impaired endonuclease activity. Both patients were compound heterozygous for truncating mutations in the ERCC5 gene (<a href="#0009">133530.0009</a>, <a href="#0010">133530.0010</a>) and another mutation (<a href="#0008">133530.0008</a> and <a href="#0011">133530.0011</a>, respectively). These cells, unlike those from xeroderma pigmentosum group G/Cockayne syndrome patients, were capable of limited transcription-coupled repair of oxidative lesions. <a href="#20" class="mim-tip-reference" title="Lalle, P., Nouspikel, T., Constantinou, A., Thorel, F., Clarkson, S. G. <strong>The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.</strong> J. Invest. Derm. 118: 344-351, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11841555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11841555</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01673.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11841555">Lalle et al. (2002)</a> suggested that the residual ERCC5 activity in these patients was responsible for the absence of severe early-onset Cockayne syndrome symptoms. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=492197+11841555+11219864+698095" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#27" class="mim-tip-reference" title="Nouspikel, T., Lalle, P., Leadon, S. A., Cooper, P. K., Clarkson, S. G. <strong>A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.</strong> Proc. Nat. Acad. Sci. 94: 3116-3121, 1997. Note: Retraction: Proc. Nat. Acad. Sci. 103: 19606 only, 2006. Figure 6 was retracted as part of a Voluntary Exclusion Agreement between the author Steven A. Leadon and the U.S. Department of Health and Human Services (HHS) through the Public Health Service and the Office of Research Integrity; see Notice of Findings of Scientific Misconduct from HHS (71 Federal Register 110 (June 8, 2006/Notices) pp 33308-33309).[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9096355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9096355</a>] [<a href="https://doi.org/10.1073/pnas.94.7.3116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9096355">Nouspikel et al. (1997)</a> studied the nature of the molecular defect in the first 3 documented cases of combined XPG and Cockayne syndrome (see <a href="/entry/278780">278780</a>) reported by <a href="#18" class="mim-tip-reference" title="Jaeken, J., Klocker, H., Schwaiger, H., Bellmann, R., Hirsch-Kauffmann, M., Schweiger, M. <strong>Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome.</strong> Hum. Genet. 83: 339-346, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2478446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2478446</a>] [<a href="https://doi.org/10.1007/BF00291378" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2478446">Jaeken et al. (1989)</a>, <a href="#41" class="mim-tip-reference" title="Vermeulen, W., Jaeken, J., Jaspers, N. G. J., Bootsma, D., Hoeijmakers, J. H. J. <strong>Xeroderma pigmentosum complementation group G associated with Cockayne syndrome.</strong> Am. J. Hum. Genet. 53: 185-192, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8317483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8317483</a>]" pmid="8317483">Vermeulen et al. (1993)</a>, and <a href="#14" class="mim-tip-reference" title="Hamel, B. C. J., Raams, A., Schuitema-Dijkstra, A. R., Simons, P., van der Burgt, I., Jaspers, N. G. J., Kleijer, W. J. <strong>Xeroderma pigmentosum-Cockayne syndrome complex: a further case.</strong> J. Med. Genet. 33: 607-610, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8818951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8818951</a>] [<a href="https://doi.org/10.1136/jmg.33.7.607" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8818951">Hamel et al. (1996)</a>. They found an unexpected common mutational pattern in the 3 patients with XPG/CS that was distinct from that found in 2 sibs with mild XPG without CS symptoms (<a href="#25" class="mim-tip-reference" title="Norris, P. G., Hawk, J. L. M., Avery, J. A., Giannelli, F. <strong>Xeroderma pigmentosum complementation group G--report of two cases.</strong> Brit. J. Derm. 116: 861-866, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3620347/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3620347</a>] [<a href="https://doi.org/10.1111/j.1365-2133.1987.tb04906.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3620347">Norris et al., 1987</a>). <a href="#27" class="mim-tip-reference" title="Nouspikel, T., Lalle, P., Leadon, S. A., Cooper, P. K., Clarkson, S. G. <strong>A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.</strong> Proc. Nat. Acad. Sci. 94: 3116-3121, 1997. Note: Retraction: Proc. Nat. Acad. Sci. 103: 19606 only, 2006. Figure 6 was retracted as part of a Voluntary Exclusion Agreement between the author Steven A. Leadon and the U.S. Department of Health and Human Services (HHS) through the Public Health Service and the Office of Research Integrity; see Notice of Findings of Scientific Misconduct from HHS (71 Federal Register 110 (June 8, 2006/Notices) pp 33308-33309).[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9096355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9096355</a>] [<a href="https://doi.org/10.1073/pnas.94.7.3116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9096355">Nouspikel et al. (1997)</a> found that the 3 XPG/CS patients had mutations that were predicted to produce severely truncated XPG proteins. In contrast, 2 sib XPG patients without CS reported by <a href="#26" class="mim-tip-reference" title="Nouspikel, T., Clarkson, S. G. <strong>Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient.</strong> Hum. Molec. Genet. 3: 963-967, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7951246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7951246</a>] [<a href="https://doi.org/10.1093/hmg/3.6.963" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7951246">Nouspikel and Clarkson (1994)</a> were able to make full-length XPG, but had a mutation that inactivated its function in NER. The results suggested that XPG/CS mutations abolish interactions required for a second important XPG function and that it is the loss of this second function that leads to the CS clinical phenotype. (Note that Figure 6 of the report of <a href="#27" class="mim-tip-reference" title="Nouspikel, T., Lalle, P., Leadon, S. A., Cooper, P. K., Clarkson, S. G. <strong>A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.</strong> Proc. Nat. Acad. Sci. 94: 3116-3121, 1997. Note: Retraction: Proc. Nat. Acad. Sci. 103: 19606 only, 2006. Figure 6 was retracted as part of a Voluntary Exclusion Agreement between the author Steven A. Leadon and the U.S. Department of Health and Human Services (HHS) through the Public Health Service and the Office of Research Integrity; see Notice of Findings of Scientific Misconduct from HHS (71 Federal Register 110 (June 8, 2006/Notices) pp 33308-33309).[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9096355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9096355</a>] [<a href="https://doi.org/10.1073/pnas.94.7.3116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9096355">Nouspikel et al. (1997)</a> was retracted under a Voluntary Exclusion Agreement between one of the authors, Steven A. Leaden, and the U.S. Department of Health and Human Services. The other authors stated that the other findings and conclusions of the article were not challenged by retraction of Figure 6.) <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7951246+8818951+9096355+8317483+2478446+3620347" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Cleaver, J. E., Thompson, L. H., Richardson, A. S., States, J. C. <strong>A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.</strong> Hum. Mutat. 14: 9-22, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10447254/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10447254</a>] [<a href="https://doi.org/10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10447254">Cleaver et al. (1999)</a> reviewed mutations that had been described in the XPG gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10447254" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Cerebrooculofacioskeletal Syndrome 3</em></strong></p><p>
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In a boy, born of consanguineous Moroccan parents, with cerebrooculofacioskeletal syndrome-3 (COFS3; <a href="/entry/616570">616570</a>) originally reported by <a href="#14" class="mim-tip-reference" title="Hamel, B. C. J., Raams, A., Schuitema-Dijkstra, A. R., Simons, P., van der Burgt, I., Jaspers, N. G. J., Kleijer, W. J. <strong>Xeroderma pigmentosum-Cockayne syndrome complex: a further case.</strong> J. Med. Genet. 33: 607-610, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8818951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8818951</a>] [<a href="https://doi.org/10.1136/jmg.33.7.607" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8818951">Hamel et al. (1996)</a>, <a href="#27" class="mim-tip-reference" title="Nouspikel, T., Lalle, P., Leadon, S. A., Cooper, P. K., Clarkson, S. G. <strong>A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.</strong> Proc. Nat. Acad. Sci. 94: 3116-3121, 1997. Note: Retraction: Proc. Nat. Acad. Sci. 103: 19606 only, 2006. Figure 6 was retracted as part of a Voluntary Exclusion Agreement between the author Steven A. Leadon and the U.S. Department of Health and Human Services (HHS) through the Public Health Service and the Office of Research Integrity; see Notice of Findings of Scientific Misconduct from HHS (71 Federal Register 110 (June 8, 2006/Notices) pp 33308-33309).[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9096355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9096355</a>] [<a href="https://doi.org/10.1073/pnas.94.7.3116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9096355">Nouspikel et al. (1997)</a> identified a homozygous truncating mutation in the ERCC5 gene (<a href="#0003">133530.0003</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8818951+9096355" 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 4 fetuses from a large consanguineous Pakistani kindred with COFS3, <a href="#7" class="mim-tip-reference" title="Drury, S., Boustred, C., Tekman, M., Stanescu, H., Kleta, R., Lench, N., Chitty, L. S., Scott, R. H. <strong>A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.</strong> Am. J. Med. Genet. 164A: 1777-1783, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24700531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24700531</a>] [<a href="https://doi.org/10.1002/ajmg.a.36506" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24700531">Drury et al. (2014)</a> identified a homozygous truncating mutation in the ERCC5 gene (<a href="#0016">133530.0016</a>) predicting the loss of the C terminus. The mutation, which was found by a combination of linkage analysis and exome sequencing, segregated with the disorder in the family. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24700531" 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="#34" class="mim-tip-reference" title="Shiomi, N., Kito, S., Oyama, M., Matsunaga, T., Harada, Y.-N., Ikawa, M., Okabe, M., Shiomi, T. <strong>Identification of the XPG region that causes the onset of Cockayne syndrome by using Xpg mutant mice generated by the cDNA-mediated knock-in method.</strong> Molec. Cell. Biol. 24: 3712-3719, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15082767/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15082767</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15082767[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.24.9.3712-3719.2004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15082767">Shiomi et al. (2004)</a> created mice carrying mutations in the Xpg gene leading to C-terminal deletions in the protein. Mice homozygous for a mutation leading to deletion of the last 360 amino acids exhibited growth retardation and a shorter life span than controls, but they had a slightly milder CS phenotype than Xpg null mice. Mice homozygous for a mutation leading to deletion of the last 183 amino acids showed no growth abnormalities compared with wildtype mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15082767" 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="#40" class="mim-tip-reference" title="Vermeij, W. P., Dolle, M. E. T., Reiling, E., Jaarsma, D., Payan-Gomez, C., Bombardieri, C. R., Wu, H., Roks, A. J. M., Botter, S. M., van der Eerden, B. C., Youssef, S. A., Kuiper, R. V., and 12 others. <strong>Restricted diet delays accelerated ageing and genomic stress in DNA-repair-deficient mice.</strong> Nature 537: 427-431, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27556946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27556946</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27556946[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature19329" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27556946">Vermeij et al. (2016)</a> reported that a dietary restriction of 30% tripled the median and maximal remaining lifespans of Ercc1 (<a href="/entry/126380">126380</a>) delta/- progeroid mice, strongly retarding numerous aspects of accelerated aging. Mice undergoing dietary restriction retained 50% more neurons and maintained full motor function far beyond the lifespan of mice fed ad libitum. Ercc5 -/- mice, another DNA repair-deficient progeroid mouse that models Cockayne syndrome (see <a href="/entry/278780">278780</a>), responded similarly. The dietary restriction response in Ercc1 delta/- mice closely resembled the effects of dietary restriction in wildtype animals. Notably, liver tissue from Ercc1 delta/- mice fed ad libitum showed preferential extinction of the expression of long genes, a phenomenon also observed in several tissues aging normally. This is consistent with the accumulation of stochastic, transcription-blocking lesions that affect long genes more than short ones. Dietary restriction largely prevented this declining transcriptional output and reduced the number of gamma-H2AX (<a href="/entry/601772">601772</a>) DNA damage foci, indicating that dietary restriction preserves genome function by alleviating DNA damage. <a href="#40" class="mim-tip-reference" title="Vermeij, W. P., Dolle, M. E. T., Reiling, E., Jaarsma, D., Payan-Gomez, C., Bombardieri, C. R., Wu, H., Roks, A. J. M., Botter, S. M., van der Eerden, B. C., Youssef, S. A., Kuiper, R. V., and 12 others. <strong>Restricted diet delays accelerated ageing and genomic stress in DNA-repair-deficient mice.</strong> Nature 537: 427-431, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27556946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27556946</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27556946[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature19329" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27556946">Vermeij et al. (2016)</a> concluded that their findings established the Ercc1 delta/- mouse as a powerful model organism for health-sustaining interventions, revealed potential for reducing endogenous DNA damage, facilitated a better understanding of the molecular mechanism of dietary restriction, and suggested a role for counterintuitive dietary restriction-like therapy for human progeroid genome instability syndromes and possibly neurodegeneration in general. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27556946" 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="#22" class="mim-tip-reference" title="Lehmann, A. R., Bootsma, D., Clarkson, S. G., Cleaver, J. E., McAlpine, P. J., Tanaka, K., Thompson, L. H., Wood, R. D. <strong>Nomenclature of human DNA repair genes.</strong> Mutat. Res. 315: 41-42, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7517009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7517009</a>] [<a href="https://doi.org/10.1016/0921-8777(94)90026-4" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7517009">Lehmann et al. (1994)</a> recommended that the final C in the XPGC symbol be omitted and the gene cited as XPG. Furthermore, they recommended that when an inactivating mutation in the ERCC5 gene is identified in an XPG patient, XPG should be used as the gene symbol. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7517009" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Cooper, P. K., Nouspikel, T., Clarkson, S. G., Leadon, S. A. <strong>Defective transcription-coupled repair of oxidative base damage in Cockayne syndrome patients from XP group G.</strong> Science 275: 990-993, 1997. Note: Retraction: Science 308: 1740 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9020084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9020084</a>] [<a href="https://doi.org/10.1126/science.275.5302.990" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9020084">Cooper et al. (1997)</a> reported that oxidative damage, including thymine glycols, is removed by transcription-coupled repair in cells from normal individuals and from patients with xeroderma pigmentosum of complementation groups A (XPA; <a href="/entry/278700">278700</a>), F (XPF; <a href="/entry/278760">278760</a>), and G who have NER defects, but not from XPG patients who have severe Cockayne syndrome. <a href="#6" class="mim-tip-reference" title="Cooper, P. K., Nouspikel, T., Clarkson, S. G. <strong>Retraction.</strong> Science 308: 1740 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15961651/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15961651</a>] [<a href="https://doi.org/10.1126/science.308.5729.1740b" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15961651">Cooper et al. (2005)</a> retracted the paper of <a href="#5" class="mim-tip-reference" title="Cooper, P. K., Nouspikel, T., Clarkson, S. G., Leadon, S. A. <strong>Defective transcription-coupled repair of oxidative base damage in Cockayne syndrome patients from XP group G.</strong> Science 275: 990-993, 1997. Note: Retraction: Science 308: 1740 only, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9020084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9020084</a>] [<a href="https://doi.org/10.1126/science.275.5302.990" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9020084">Cooper et al. (1997)</a>, stating that the results were not valid as reported and that the overall integrity of the paper could not be supported by the presented results. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15961651+9020084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000018034 OR RCV000587956 OR RCV003556039" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018034, RCV000587956, RCV003556039" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018034...</a>
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<p>In lymphoblastoid cell lines derived from 2 sibs with xeroderma pigmentosum complementation group G (XPG; <a href="/entry/278780">278780</a>), <a href="#26" class="mim-tip-reference" title="Nouspikel, T., Clarkson, S. G. <strong>Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient.</strong> Hum. Molec. Genet. 3: 963-967, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7951246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7951246</a>] [<a href="https://doi.org/10.1093/hmg/3.6.963" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7951246">Nouspikel and Clarkson (1994)</a> identified compound heterozygosity for 2 mutations in the ERCC5 gene: a 3075G-T transversion resulting in a glu960-to-ter (Q960X) substitution and a truncated protein of 959 amino acids, and A792V (<a href="#0002">133530.0002</a>). In vitro functional expression studies showed that neither mutant protein was able to correct UV sensitivity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7951246" 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> rs121434571 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434571;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/rs121434571?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=rs121434571" 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=rs121434571" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 sibs with xeroderma pigmentosum complementation group G (XPG; <a href="/entry/278780">278780</a>), <a href="#26" class="mim-tip-reference" title="Nouspikel, T., Clarkson, S. G. <strong>Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient.</strong> Hum. Molec. Genet. 3: 963-967, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7951246/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7951246</a>] [<a href="https://doi.org/10.1093/hmg/3.6.963" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7951246">Nouspikel and Clarkson (1994)</a> identified a 2572C-T transition in the ERCC5 gene, resulting in an ala792-to-val (A792V) substitution. The mutation was found in compound heterozygosity with Q960X (<a href="#0001">133530.0001</a>). In vitro functional expression studies showed that neither mutant protein was able to correct UV sensitivity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7951246" 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="#17" class="mim-tip-reference" title="Ito, S., Kuraoka, I., Chymkowitch, P., Compe, E., Takedachi, A., Ishigami, C., Coin, F., Egly, J.-M., Tanaka, K. <strong>XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients.</strong> Molec. Cell 26: 231-243, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17466625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17466625</a>] [<a href="https://doi.org/10.1016/j.molcel.2007.03.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17466625">Ito et al. (2007)</a> found that the A792V mutant protein, which contains an intact C terminus, was able to bind TFIIH in a manner similar to that of wildtype ERCC5, likely resulting in the milder phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17466625" 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">rs2140538834 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2140538834;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=rs2140538834" 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=rs2140538834" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient with cerebrooculofacioskeletal syndrome-3 (COFS3; <a href="/entry/616570">616570</a>) manifest as severe early-onset XPG/Cockayne syndrome reported by <a href="#14" class="mim-tip-reference" title="Hamel, B. C. J., Raams, A., Schuitema-Dijkstra, A. R., Simons, P., van der Burgt, I., Jaspers, N. G. J., Kleijer, W. J. <strong>Xeroderma pigmentosum-Cockayne syndrome complex: a further case.</strong> J. Med. Genet. 33: 607-610, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8818951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8818951</a>] [<a href="https://doi.org/10.1136/jmg.33.7.607" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8818951">Hamel et al. (1996)</a>, <a href="#27" class="mim-tip-reference" title="Nouspikel, T., Lalle, P., Leadon, S. A., Cooper, P. K., Clarkson, S. G. <strong>A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.</strong> Proc. Nat. Acad. Sci. 94: 3116-3121, 1997. Note: Retraction: Proc. Nat. Acad. Sci. 103: 19606 only, 2006. Figure 6 was retracted as part of a Voluntary Exclusion Agreement between the author Steven A. Leadon and the U.S. Department of Health and Human Services (HHS) through the Public Health Service and the Office of Research Integrity; see Notice of Findings of Scientific Misconduct from HHS (71 Federal Register 110 (June 8, 2006/Notices) pp 33308-33309).[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9096355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9096355</a>] [<a href="https://doi.org/10.1073/pnas.94.7.3116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9096355">Nouspikel et al. (1997)</a> identified a homozygous 1-bp deletion (2972delT) in the ERCC5 gene, resulting in a frameshift after amino acid 925; another 55 amino acids unrelated to XPG would be added before the next in-frame stop codon. The child was born of first-cousin Moroccan parents and died at age 7 months. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8818951+9096355" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Graham, J. M., Jr., Anyane-Yeboa, K., Raams, A., Appeldoorn, E., Kleijer, W. J., Garritsen, V. H., Busch, D., Edersheim, T. G., Jaspers, N. G. J. <strong>Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.</strong> Am. J. Hum. Genet. 69: 291-300, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11443545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11443545</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11443545[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/321295" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11443545">Graham et al. (2001)</a> referred to the case reported by <a href="#14" class="mim-tip-reference" title="Hamel, B. C. J., Raams, A., Schuitema-Dijkstra, A. R., Simons, P., van der Burgt, I., Jaspers, N. G. J., Kleijer, W. J. <strong>Xeroderma pigmentosum-Cockayne syndrome complex: a further case.</strong> J. Med. Genet. 33: 607-610, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8818951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8818951</a>] [<a href="https://doi.org/10.1136/jmg.33.7.607" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8818951">Hamel et al. (1996)</a> as one of COFS syndrome. The patient showed prenatal-onset growth deficiency, severe microcephaly, microphthalmia without cataracts, cleft palate, cutaneous photosensitivity, and brain atrophy without calcifications. Skin fibroblasts showed extreme cellular sensitivity to UV, comparable to that in classic xeroderma pigmentosum. Using in vitro studies, <a href="#17" class="mim-tip-reference" title="Ito, S., Kuraoka, I., Chymkowitch, P., Compe, E., Takedachi, A., Ishigami, C., Coin, F., Egly, J.-M., Tanaka, K. <strong>XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients.</strong> Molec. Cell 26: 231-243, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17466625/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17466625</a>] [<a href="https://doi.org/10.1016/j.molcel.2007.03.013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17466625">Ito et al. (2007)</a> found that the mutant 2972delT protein, which lacked the C terminus, was unable to bind the TFIIH complex, likely resulting in the more severe phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11443545+17466625+8818951" 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">rs1882806435 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1882806435;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=rs1882806435" 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=rs1882806435" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a Flemish girl with XPG/Cockayne syndrome (see <a href="/entry/278780">278780</a>), <a href="#27" class="mim-tip-reference" title="Nouspikel, T., Lalle, P., Leadon, S. A., Cooper, P. K., Clarkson, S. G. <strong>A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.</strong> Proc. Nat. Acad. Sci. 94: 3116-3121, 1997. Note: Retraction: Proc. Nat. Acad. Sci. 103: 19606 only, 2006. Figure 6 was retracted as part of a Voluntary Exclusion Agreement between the author Steven A. Leadon and the U.S. Department of Health and Human Services (HHS) through the Public Health Service and the Office of Research Integrity; see Notice of Findings of Scientific Misconduct from HHS (71 Federal Register 110 (June 8, 2006/Notices) pp 33308-33309).[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9096355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9096355</a>] [<a href="https://doi.org/10.1073/pnas.94.7.3116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9096355">Nouspikel et al. (1997)</a> identified a homozygous 1-bp deletion within an AAA triplet at nucleotides 2170-2172, which resulted in a TGA stop codon after amino acid 659. Such a deletion was considered characteristic of a slippage error during DNA replication. The patient had psychomotor retardation, microcephaly, and was severely sunlight-sensitive with several pigmented cutaneous spots (<a href="#18" class="mim-tip-reference" title="Jaeken, J., Klocker, H., Schwaiger, H., Bellmann, R., Hirsch-Kauffmann, M., Schweiger, M. <strong>Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome.</strong> Hum. Genet. 83: 339-346, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2478446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2478446</a>] [<a href="https://doi.org/10.1007/BF00291378" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2478446">Jaeken et al., 1989</a>; <a href="#41" class="mim-tip-reference" title="Vermeulen, W., Jaeken, J., Jaspers, N. G. J., Bootsma, D., Hoeijmakers, J. H. J. <strong>Xeroderma pigmentosum complementation group G associated with Cockayne syndrome.</strong> Am. J. Hum. Genet. 53: 185-192, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8317483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8317483</a>]" pmid="8317483">Vermeulen et al., 1993</a>). She died at 6.5 years of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8317483+2478446+9096355" 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> rs121434572 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434572;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/rs121434572?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=rs121434572" 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=rs121434572" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In fibroblasts derived from a Flemish male with XPG/Cockayne syndrome (see <a href="/entry/278780">278780</a>) <a href="#27" class="mim-tip-reference" title="Nouspikel, T., Lalle, P., Leadon, S. A., Cooper, P. K., Clarkson, S. G. <strong>A common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG function.</strong> Proc. Nat. Acad. Sci. 94: 3116-3121, 1997. Note: Retraction: Proc. Nat. Acad. Sci. 103: 19606 only, 2006. Figure 6 was retracted as part of a Voluntary Exclusion Agreement between the author Steven A. Leadon and the U.S. Department of Health and Human Services (HHS) through the Public Health Service and the Office of Research Integrity; see Notice of Findings of Scientific Misconduct from HHS (71 Federal Register 110 (June 8, 2006/Notices) pp 33308-33309).[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9096355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9096355</a>] [<a href="https://doi.org/10.1073/pnas.94.7.3116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9096355">Nouspikel et al. (1997)</a> identified compound heterozygosity for 2 mutations in the ERCC5 gene: a 984C-T transition resulting in an arg263-to-ter (R263X) substitution and a severely truncated protein, and a 1-bp deletion (<a href="/entry/113530#0004">113530.0004</a>) that had been identified in an unrelated Flemish girl. The 984C-T transition was located within a CpG dinucleotide and thus may have resulted from deamination of a 5-methylcytosine. The patient had extreme microcephaly, dysmorphism, and sun-sensitive skin with several pigmented spots. He died at age 20 months. The 2 patients were not known to be related, but possessed a very rare HLA haplotype in common. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9096355" 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> rs121434573 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434573;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/rs121434573?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=rs121434573" 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=rs121434573" 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=RCV000018039" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018039" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018039</a>
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<p>In a patient with xeroderma pigmentosum complementation group G and neurologic involvement with features of Cockayne syndrome (see <a href="/entry/278780">278780</a>) in infancy, <a href="#44" class="mim-tip-reference" title="Zafeiriou, D. I., Thorel, F., Andreou, A., Kleijer, W. J., Raams, A., Garritsen, V. H., Gombakis, N., Jaspers, N. G. J., Clarkson, S. G. <strong>Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy.</strong> Pediat. Res. 49: 407-412, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11228268/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11228268</a>] [<a href="https://doi.org/10.1203/00006450-200103000-00016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11228268">Zafeiriou et al. (2001)</a> identified compound heterozygosity for 2 mutations in the ERCC5 gene: a 526C-T transition resulting in a gln176-to-ter (Q176X) substitution, and P72H (<a href="#0007">133530.0007</a>). Only a minor fraction of ERCC5 mRNA was encoded by the Q176X allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11228268" 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> rs121434574 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434574;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/rs121434574?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=rs121434574" 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=rs121434574" 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=RCV000018040" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018040" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018040</a>
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<p>In a patient with XPG/Cockayne syndrome (see <a href="/entry/278780">278780</a>), <a href="#44" class="mim-tip-reference" title="Zafeiriou, D. I., Thorel, F., Andreou, A., Kleijer, W. J., Raams, A., Garritsen, V. H., Gombakis, N., Jaspers, N. G. J., Clarkson, S. G. <strong>Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy.</strong> Pediat. Res. 49: 407-412, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11228268/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11228268</a>] [<a href="https://doi.org/10.1203/00006450-200103000-00016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11228268">Zafeiriou et al. (2001)</a> identified a 215C-A transversion in the ERCC5 gene, resulting in a pro72-to-his (P72H) substitution. This mutation was found in compound heterozygosity with Q176X (<a href="#0006">133530.0006</a>). The P72H substitution was expected to seriously impair the 3-prime endonuclease function of XPG. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11228268" 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">rs121434575 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434575;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=rs121434575" 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=rs121434575" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In the first patient reported with xeroderma pigmentosum complementation group G (XPG; <a href="/entry/278780">278780</a>) (<a href="#2" class="mim-tip-reference" title="Cheesbrough, M. J. <strong>Xeroderma pigmentosum--a unique variant with neurological involvement.</strong> Brit. J. Derm. 99 (Suppl. 16): 61 only, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/698095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">698095</a>]" pmid="698095">Cheesbrough, 1978</a>; <a href="#19" class="mim-tip-reference" title="Keijzer, W., Jaspers, N. G. J., Abrahams, P. J., Taylor, A. M. R., Arlett, C. F., Zelle, B., Takebe, H., Kinmont, P. D. S., Bootsma, D. <strong>A seventh complementation group in excision-deficient xeroderma pigmentosum.</strong> Mutat. Res. 62: 183-190, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/492197/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">492197</a>] [<a href="https://doi.org/10.1016/0027-5107(79)90231-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="492197">Keijzer et al., 1979</a>), <a href="#20" class="mim-tip-reference" title="Lalle, P., Nouspikel, T., Constantinou, A., Thorel, F., Clarkson, S. G. <strong>The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.</strong> J. Invest. Derm. 118: 344-351, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11841555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11841555</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01673.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11841555">Lalle et al. (2002)</a> identified compound heterozygosity for 2 mutations in the ERCC5 gene. One allele carried a 2573T-C transition, resulting in a leu858-to-pro (L858P) substitution within the evolutionarily conserved I region that is thought to form part of the XPG endonuclease active site (<a href="#4" class="mim-tip-reference" title="Constantinou, A., Gunz, D., Evans, E., Lalle, P., Bates, P. A., Wood, R. D., Clarkson, S. G. <strong>Conserved residues of human XPG protein important for nuclease activity and function in nucleotide excision repair.</strong> J. Biol. Chem. 274: 5637-5648, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10026181/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10026181</a>] [<a href="https://doi.org/10.1074/jbc.274.9.5637" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10026181">Constantinou et al., 1999</a>). The other allele carried a 4-bp deletion (<a href="#0009">133530.0009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=492197+11841555+698095+10026181" 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">rs786200919 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786200919;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=rs786200919" 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=rs786200919" 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=RCV000018042 OR RCV002276555 OR RCV005003376" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018042, RCV002276555, RCV005003376" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018042...</a>
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<p>In the first patient reported with xeroderma pigmentosum complementation group G (XPG; <a href="/entry/278780">278780</a>) (<a href="#2" class="mim-tip-reference" title="Cheesbrough, M. J. <strong>Xeroderma pigmentosum--a unique variant with neurological involvement.</strong> Brit. J. Derm. 99 (Suppl. 16): 61 only, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/698095/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">698095</a>]" pmid="698095">Cheesbrough, 1978</a>; <a href="#19" class="mim-tip-reference" title="Keijzer, W., Jaspers, N. G. J., Abrahams, P. J., Taylor, A. M. R., Arlett, C. F., Zelle, B., Takebe, H., Kinmont, P. D. S., Bootsma, D. <strong>A seventh complementation group in excision-deficient xeroderma pigmentosum.</strong> Mutat. Res. 62: 183-190, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/492197/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">492197</a>] [<a href="https://doi.org/10.1016/0027-5107(79)90231-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="492197">Keijzer et al., 1979</a>), <a href="#20" class="mim-tip-reference" title="Lalle, P., Nouspikel, T., Constantinou, A., Thorel, F., Clarkson, S. G. <strong>The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.</strong> J. Invest. Derm. 118: 344-351, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11841555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11841555</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01673.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11841555">Lalle et al. (2002)</a> identified compound heterozygosity for 2 mutations in the ERCC5 gene: an L858P substitution (<a href="#0008">133530.0008</a>), and a 4-bp deletion removing AGGA from nucleotide positions 1114 to 1117. The deletion created a frameshift resulting in a truncated protein of 376 amino acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=492197+11841555+698095" 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">rs786200920 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs786200920;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=rs786200920" 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=rs786200920" 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=RCV000018043" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018043" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018043</a>
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<p>In a patient with xeroderma pigmentosum complementation group G (XPG; <a href="/entry/278780">278780</a>) reported by <a href="#1" class="mim-tip-reference" title="Arlett, C. F., Harcourt, S. A., Lehman, A. R., Stevens, S., Ferguson-Smith, M. A., Morley, W. N. <strong>Studies on a new case of xeroderma pigmentosum (XP3BR) from complementation group G with cellular sensitivity to ionizing radiation.</strong> Carcinogenesis 1: 745-751, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11219864/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11219864</a>] [<a href="https://doi.org/10.1093/carcin/1.9.745" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11219864">Arlett et al. (1980)</a>, <a href="#20" class="mim-tip-reference" title="Lalle, P., Nouspikel, T., Constantinou, A., Thorel, F., Clarkson, S. G. <strong>The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.</strong> J. Invest. Derm. 118: 344-351, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11841555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11841555</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01673.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11841555">Lalle et al. (2002)</a> identified deletion of an adenosine from a stretch of 4 adenosines at nucleotides 1491 to 1494 of the ERCC5 gene. The resulting frameshift generated a truncated protein of 521 amino acids, the last 23 being unrelated to XPG. The other allele carried a deletion of an adenosine in a stretch of 9 adenosines (<a href="#0011">133530.0011</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11219864+11841555" 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> rs752661599 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs752661599;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/rs752661599?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=rs752661599" 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=rs752661599" 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=RCV000018044 OR RCV001194154 OR RCV003556040 OR RCV005003377" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018044, RCV001194154, RCV003556040, RCV005003377" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018044...</a>
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<p>In a patient with xeroderma pigmentosum complementation group G (XPG; <a href="/entry/278780">278780</a>), <a href="#20" class="mim-tip-reference" title="Lalle, P., Nouspikel, T., Constantinou, A., Thorel, F., Clarkson, S. G. <strong>The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.</strong> J. Invest. Derm. 118: 344-351, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11841555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11841555</a>] [<a href="https://doi.org/10.1046/j.0022-202x.2001.01673.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11841555">Lalle et al. (2002)</a> identified compound heterozygosity for 2 small deletions in the ERCC5 gene. One allele had deletion of an adenosine at position 1491 (<a href="#0010">133530.0010</a>), and the other had a deletion of an adenosine in a stretch of 9 adenosines at positions 2743 to 2751 of the ERCC5 gene. The authors designated this mutation 2751delA. An intron whose splice donor and acceptor sites are noncanonical is located between the deletion and the termination codon resulting from the frameshift; the mutation caused a minor alternative splicing event that removed the first 2 nucleotides of the following exon (2880-2881del). In this patient, the combination of this splicing event and the single-nucleotide deletion at position 2751 was predicted to restore the reading frame and thereby generate an almost full-length XPG protein of 1,185, instead of 1,186, amino acids. Such a protein would contain an internal stretch of 44 unrelated amino acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11841555" 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> rs121434576 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434576;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/rs121434576?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=rs121434576" 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=rs121434576" 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=RCV000018045 OR RCV001844013 OR RCV002513091" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018045, RCV001844013, RCV002513091" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018045...</a>
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<p><a href="#9" class="mim-tip-reference" title="Emmert, S., Slor, H., Busch, D. B., Batko, S., Albert, R. B., Coleman, D., Khan, S. G., Abu-Libdeh, B., DiGiovanna, J. J., Cunningham, B. B., Lee, M.-M., Crollick, J., Inui, H., Ueda, T., Hedayati, M., Grossman, L., Shahlavi, T., Cleaver, J. E., Kraemer, K. H. <strong>Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.</strong> J. Invest. Derm. 118: 972-982, 2002. Note: Erratum: J. Invest. Derm. 120: 173 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12060391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12060391</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2002.01782.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12060391">Emmert et al. (2002)</a> reported a mildly affected 14-year-old Caucasian female with xeroderma pigmentosum complementation group G (XPG; <a href="/entry/278780">278780</a>) who was compound heterozygous for 2 mutations in the ERCC5 gene: an early stop codon (Q136X; <a href="#0013">133530.0013</a>) and a 2817G-A transition resulting in an ala874-to-thr (A874T) substitution. The A874T mutant protein showed residual ability to complement XPG cells in vitro. The observations agreed with earlier studies demonstrating that XPG patients who retain residual functional activity in 1 allele can have mild clinical features without neurologic abnormalities. The patient had sun sensitivity but no neurologic abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12060391" 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">rs121434577 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434577;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=rs121434577" 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=rs121434577" 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=RCV000018046" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018046" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018046</a>
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<p>In a mildly affected girl with xeroderma pigmentosum complementation group G (XPG; <a href="/entry/278780">278780</a>), <a href="#9" class="mim-tip-reference" title="Emmert, S., Slor, H., Busch, D. B., Batko, S., Albert, R. B., Coleman, D., Khan, S. G., Abu-Libdeh, B., DiGiovanna, J. J., Cunningham, B. B., Lee, M.-M., Crollick, J., Inui, H., Ueda, T., Hedayati, M., Grossman, L., Shahlavi, T., Cleaver, J. E., Kraemer, K. H. <strong>Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.</strong> J. Invest. Derm. 118: 972-982, 2002. Note: Erratum: J. Invest. Derm. 120: 173 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12060391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12060391</a>] [<a href="https://doi.org/10.1046/j.1523-1747.2002.01782.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12060391">Emmert et al. (2002)</a> identified compound heterozygosity for 2 mutations in the ERCC5 gene: a 603C-T transition in exon 4 resulting in a gln136-to-ter (Q136X) substitution and A874T (<a href="#0012">133530.0012</a>). The A874T mutant protein retained residual activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12060391" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0014 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs267607281 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607281;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=rs267607281" 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=rs267607281" 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=RCV000034376" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000034376" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000034376</a>
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<p>In 2 sibs, born of unrelated Brazilian parents, with xeroderma pigmentosum complementation group G (XPG; <a href="/entry/278780">278780</a>), <a href="#37" class="mim-tip-reference" title="Soltys, D. T., Rocha, C. R. R., Lerner, L. K., de Souza, T. A., Munford, V., Cabral, F., Nardo, T., Stefanini, M., Sarasin, A., Cabral-Neto, J. B., Menck, C. F. M. <strong>Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.</strong> Hum. Mutat. 34: 481-489, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23255472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23255472</a>] [<a href="https://doi.org/10.1002/humu.22259" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23255472">Soltys et al. (2013)</a> identified compound heterozygosity for 2 mutations in the ERCC5 gene: an 83C-A transversion, resulting in an ala28-to-asp (A28D) substitution at the N-endonucleolytic site, and a 2904G-C transversion, resulting in a trp968-to-cys (W968C; <a href="#0015">133530.0015</a>) substitution in the protein domain believed to be responsible for protein-DNA contact. In vitro functional expression studies showed that both mutant proteins were able to partially restore activity in cells lacking ERCC5 in response to UV light, but not as well as the wildtype protein. Both mutant proteins showed activity comparable to wildtype in response to oxidative stress. The patients had a relatively mild form of the disorder, with photosensitivity first apparent in infancy, but had no history of skin cancer or skin cancer precursor lesions up to ages 22 and 17 years, respectively. Patient cells showed a strong DNA repair defect in response to UV light, but not in response to oxidative stress. <a href="#37" class="mim-tip-reference" title="Soltys, D. T., Rocha, C. R. R., Lerner, L. K., de Souza, T. A., Munford, V., Cabral, F., Nardo, T., Stefanini, M., Sarasin, A., Cabral-Neto, J. B., Menck, C. F. M. <strong>Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.</strong> Hum. Mutat. 34: 481-489, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23255472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23255472</a>] [<a href="https://doi.org/10.1002/humu.22259" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23255472">Soltys et al. (2013)</a> suggested that more severe ERCC5 defects that also impair the response to oxidative stress-induced injury, usually truncating mutations, (see, e.g., <a href="#0003">133530.0003</a>) are associated with the more severe phenotype observed in Cockayne syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23255472" 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">rs267607280 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs267607280;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=rs267607280" 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=rs267607280" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>For discussion of the trp968-to-cys (W968C) mutation in the ERCC5 gene that was found in compound heterozygous state in patients with xeroderma pigmentosum complementation group G (XPG; <a href="/entry/278780">278780</a>) by <a href="#37" class="mim-tip-reference" title="Soltys, D. T., Rocha, C. R. R., Lerner, L. K., de Souza, T. A., Munford, V., Cabral, F., Nardo, T., Stefanini, M., Sarasin, A., Cabral-Neto, J. B., Menck, C. F. M. <strong>Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.</strong> Hum. Mutat. 34: 481-489, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23255472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23255472</a>] [<a href="https://doi.org/10.1002/humu.22259" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23255472">Soltys et al. (2013)</a>, see <a href="#0014">133530.0014</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23255472" 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> rs760232640 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs760232640;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/rs760232640?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=rs760232640" 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=rs760232640" 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=RCV000191920" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000191920" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000191920</a>
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<p>In 4 fetuses, born of consanguineous Pakistani parents, with cerebrooculofacioskeletal syndrome-3 (COFS3; <a href="/entry/616570">616570</a>), <a href="#7" class="mim-tip-reference" title="Drury, S., Boustred, C., Tekman, M., Stanescu, H., Kleta, R., Lench, N., Chitty, L. S., Scott, R. H. <strong>A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.</strong> Am. J. Med. Genet. 164A: 1777-1783, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24700531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24700531</a>] [<a href="https://doi.org/10.1002/ajmg.a.36506" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24700531">Drury et al. (2014)</a> identified a homozygous 1-bp duplication (c.2766dupA) in exon 13 of the ERCC5 gene, resulting in a frameshift and premature termination (Leu923ThrfsTer7) that would eliminate the C terminus. The mutation, which was found by a combination of linkage analysis and exome sequencing, segregated with the disorder in the family. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24700531" 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 href="https://doi.org/10.1002/(SICI)1098-1004(1999)14:1<9::AID-HUMU2>3.0.CO;2-6" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1074/jbc.274.9.5637" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.275.5302.990" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.308.5729.1740b" target="_blank">Full Text</a>]
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Drury, S., Boustred, C., Tekman, M., Stanescu, H., Kleta, R., Lench, N., Chitty, L. S., Scott, R. H.
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<strong>A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24700531/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24700531</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24700531" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1002/ajmg.a.36506" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/nar/29.7.1443" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11443545/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11443545</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11443545[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11443545" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/321295" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/nar/22.16.3312" target="_blank">Full Text</a>]
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Habraken, Y., Sung, P., Prakash, S., Prakash, L.
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[<a href="https://doi.org/10.1073/pnas.93.20.10718" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1136/jmg.33.7.607" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16246722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16246722</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16246722" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.molcel.2005.09.022" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/363182a0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1128/MCB.24.9.3712-3719.2004" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0921-8777(94)90080-9" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23255472/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23255472</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23255472" 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.22259" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1111/j.1349-7006.1992.tb02731.x" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1007/BF01534495" target="_blank">Full Text</a>]
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<a id="Vermeij2016" class="mim-anchor"></a>
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Vermeij, W. P., Dolle, M. E. T., Reiling, E., Jaarsma, D., Payan-Gomez, C., Bombardieri, C. R., Wu, H., Roks, A. J. M., Botter, S. M., van der Eerden, B. C., Youssef, S. A., Kuiper, R. V., and 12 others.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27556946/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27556946</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27556946[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=27556946" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature19329" target="_blank">Full Text</a>]
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Volker, M., Mone, M. J., Karmakar, P., van Hoffen, A., Schul, W., Vermeulen, W., Hoeijmakers, J. H. J., van Driel, R., van Zeeland, A. A., Mullenders, L. H. F.
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[<a href="https://doi.org/10.1016/s1097-2765(01)00281-7" target="_blank">Full Text</a>]
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Warburton, D., Yu, M.-T., Richardson, C., Mudgett, J. S., MacInnes, M. A.
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<strong>Human excision repair gene ERCC5 maps to 13q32-q33 by in situ hybridization and also cross-hybridizes to 10q11, the site of ERCC6. (Abstract)</strong>
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Cytogenet. Cell Genet. 58: 1984 only, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11228268/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11228268</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11228268" 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/10.1203/00006450-200103000-00016" target="_blank">Full Text</a>]
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Ada Hamosh - updated : 09/28/2016
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Cassandra L. Kniffin - updated : 9/23/2015<br>Cassandra L. Kniffin - updated : 4/2/2013<br>Cassandra L. Kniffin - reorganized : 7/16/2007<br>Patricia A. Hartz - updated : 11/22/2005<br>Ada Hamosh - updated : 7/20/2005<br>Patricia A. Hartz - updated : 6/25/2004<br>Gary A. Bellus - updated : 4/30/2003<br>Anne M. Stumpf - updated : 4/25/2003<br>Stylianos E. Antonarakis - updated : 7/31/2002<br>Victor A. McKusick - updated : 8/30/2001<br>Stylianos E. Antonarakis - updated : 8/3/2001<br>Ada Hamosh - updated : 4/26/2001<br>Victor A. McKusick - updated : 7/21/1999<br>Victor A. McKusick - updated : 5/13/1997<br>Victor A. McKusick - updated : 2/13/1997
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Victor A. McKusick : 9/2/1987
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carol : 03/19/2020<br>carol : 03/18/2020<br>carol : 09/11/2017<br>alopez : 09/28/2016<br>carol : 08/11/2016<br>alopez : 09/25/2015<br>ckniffin : 9/23/2015<br>mcolton : 6/3/2015<br>carol : 4/6/2015<br>mcolton : 3/30/2015<br>alopez : 3/10/2014<br>alopez : 4/5/2013<br>ckniffin : 4/2/2013<br>alopez : 11/13/2012<br>carol : 5/10/2012<br>carol : 12/3/2010<br>carol : 1/12/2010<br>carol : 7/16/2007<br>ckniffin : 7/16/2007<br>ckniffin : 7/6/2007<br>alopez : 2/12/2007<br>alopez : 2/12/2007<br>alopez : 2/12/2007<br>wwang : 11/29/2005<br>terry : 11/22/2005<br>alopez : 7/20/2005<br>terry : 7/20/2005<br>terry : 7/19/2005<br>ckniffin : 6/15/2005<br>alopez : 7/8/2004<br>mgross : 6/29/2004<br>terry : 6/25/2004<br>joanna : 3/17/2004<br>carol : 11/5/2003<br>terry : 6/9/2003<br>alopez : 4/30/2003<br>alopez : 4/25/2003<br>alopez : 4/25/2003<br>mgross : 7/31/2002<br>cwells : 9/20/2001<br>cwells : 9/12/2001<br>terry : 8/30/2001<br>mgross : 8/3/2001<br>alopez : 5/8/2001<br>terry : 4/26/2001<br>terry : 7/21/1999<br>terry : 8/3/1998<br>terry : 5/29/1998<br>alopez : 7/7/1997<br>jenny : 5/13/1997<br>alopez : 5/9/1997<br>alopez : 5/8/1997<br>terry : 5/7/1997<br>mark : 2/13/1997<br>terry : 2/13/1997<br>jamie : 12/6/1996<br>terry : 12/3/1996<br>mark : 12/12/1995<br>terry : 12/8/1995<br>mark : 8/17/1995<br>carol : 1/6/1995<br>mimadm : 9/24/1994<br>terry : 7/25/1994<br>jason : 6/7/1994<br>warfield : 4/8/1994
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<h3>
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<span class="mim-font">
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<strong>*</strong> 133530
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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ERCC EXCISION REPAIR 5, ENDONUCLEASE; ERCC5
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</span>
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</h3>
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</div>
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<br />
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<div >
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</p>
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<div>
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<h4>
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<span class="mim-font">
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EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 5<br />
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ERCM2<br />
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UV DAMAGE, EXCISION REPAIR OF, UV-135; UVDR<br />
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RAD2, YEAST, HOMOLOG OF<br />
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XERODERMA PIGMENTOSUM, GROUP G CORRECTING PROTEIN; XPGC<br />
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XPG GENE; XPG
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</span>
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</h4>
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</div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ERCC5</em></strong>
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</span>
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</p>
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</div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 36454001;
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</p>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: 13q33.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 13:102,846,032-102,875,995 </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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<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="3">
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<span class="mim-font">
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13q33.1
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</span>
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</td>
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<td>
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<span class="mim-font">
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Cerebrooculofacioskeletal syndrome 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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616570
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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">
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Xeroderma pigmentosum, group G
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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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278780
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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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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Xeroderma pigmentosum, group G/Cockayne syndrome
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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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278780
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The human genes correcting DNA 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 ERCC5 gene corrects the excision repair deficiency of Chinese hamster ovary cell line UV135 of complementation group 5. The human ERCC5 gene product is a structure-specific endonuclease required for making the 3-prime incision during DNA nucleotide excision repair (NER). See also ERCC1 (126380), ERCC2 (126340), ERCC3 (133510), ERCC4 (133520), and ERCC6 (609413).</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>Mudgett and MacInnes (1990) isolated the complete human ERCC5 gene on overlapping cosmids. The functional gene was found to be 32 kb long. </p><p>MacInnes et al. (1993) isolated clones corresponding to the ERCC5 gene from human cDNA libraries. The deduced 1,186-residue protein has a molecular mass of 133 kD and shows sequence and structural similarity to yeast RAD2, which is involved in the nucleotide excision repair pathway. The human mRNA was 4.6 kb. Further analysis suggested that the protein is nuclear-located with highly conserved helix-loop-helix segments. Shiomi et al. (1994) isolated clones corresponding to both the mouse and human ERCC5 genes and confirmed that XPG and ERCC5 are identical. </p><p>Emmert et al. (2001) identified 6 alternatively spliced isoforms of the XPG gene. </p><p>Scherly et al. (1993) isolated frog and human cDNAs encoding proteins resembling RAD2. Alignment of these 3 polypeptides, together with 2 other RAD2-related proteins, demonstrated that their conserved sequences are largely confined to 2 regions. Expression of the human cDNA in vivo restored to normal the sensitivity to ultraviolet light and unscheduled DNA synthesis of lymphoblastoid cells from XP group G (278780), but not those from Cockayne syndrome group A (CSA; 216400). The XPG-complementing protein (XPGC) was generated from an mRNA of approximately 4 kb that was present in normal amounts in the XPG cell line. </p><p>O'Donovan et al. (1994) reported the isolation of full-length XPG as a soluble protein expressed from a recombinant baculovirus. The purified polypeptide corrected the DNA nucleotide excision repair defect of XPG cell extracts in vitro and acted as a magnesium-dependent single-stranded DNA endonuclease. </p><p>Harada et al. (1995) demonstrated that the mouse Xpg cDNA has a single long open reading frame predicted to encode a 1,170-residue protein with a molecular mass of 130.8 kD. The Xpg gene expressed a single 4.3-kb mRNA transcript at similar levels in 5 mouse tissues examined. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>Emmert et al. (2001) determined that the human XPG gene contains 15 exons. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using somatic cell hybrids between a UV-sensitive mutant mouse cell line and normal human lymphocytes, Hori et al. (1983) found that a gene on human chromosome 13 was able to compensate for an autosomal recessive DNA excision repair defect in mouse cell line Q31. Siciliano et al. (1987) and Thompson et al. (1987) assigned ERCC5 to chromosome 13 by study of somatic cell hybrids between normal human cells and Chinese hamster cells defective in UV-induced nucleotide excision repair (UV135, complementation group 5). Study of hybrid cells containing rearranged human chromosomes indicated that the ERCC5 locus is situated in the region 13q14-q34. </p><p>Gersen et al. (1989) used somatic cell hybrids containing fragments of chromosome 13 to localize ERCC5 to human chromosome 13q22-qter. By fluorescence in situ hybridization, Warburton et al. (1991) mapped the ERCC5 gene to 13q32-qter but also found a strong hybridization signal at 10q11 where ERCC6 is located.</p><p>By fluorescence in situ hybridization, Takahashi et al. (1992) mapped the ERCC5 gene to 13q32.3-q33.1. By the same method, Samec et al. (1994) assigned the XPG gene to 13q33. </p><p>By in situ hybridization and by molecular linkage analysis, Harada et al. (1995) mapped the mouse Xpg gene 2.3 cM proximal to the microsatellite locus D1Mit18 on the R-positive B band of chromosome 1. The rat homolog was localized to chromosome 9q22.3, which had been known to have a conserved linkage homology to mouse chromosome 1. The assignment of human XPG to chromosome 13q32.3-q33.1 represents an area where no conserved linkage homology to mouse chromosome 1 had previously been found. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>O'Donovan and Wood (1993) found that the DNA repair deficiency of XPG cell extracts could be corrected by addition of protein fractions from normal cells and by mixing XPG cell extracts with extracts from different repair-defective cell lines, except from cells representing ERCC5 rodent mutants. XPG and group 5 correcting activities co-eluted after approximately 1,000-fold purification from HeLa cells. An antibody directed against a fragment of the XPG protein inhibited excision repair by normal cell extracts, and activity could be restored with an XPG/group 5 complementing fraction. These data suggested that XPG and ERCC5 are identical proteins. O'Donovan et al. (1994) showed that the XPG endonuclease cleaves the damaged DNA strand 3-prime to the lesion during nucleotide excision repair. </p><p>Habraken et al. (1994) expressed the XPG-encoded protein in Sf9 insect cells and purified it to homogeneity. They demonstrated that XPG is a single-strand specific DNA endonuclease, thus identifying the catalytic role of the protein in nucleotide excision repair. They suggested that XPG nuclease acts on the single-stranded region created as a result of the combined action of the XPB helicase and XPD helicase at the DNA damage site. </p><p>TFIIH (see 189972) is a multisubunit transcription factor complex involved in nucleotide excision repair. In humans, mutations in the TFIIH subunits XPD (126340) and XPB (133510), the counterparts of the yeast RAD3 and RAD25 genes, respectively, cause Cockayne syndrome, which is characterized by severe growth defects, mental retardation, and cachexia. In yeast studies, Habraken et al. (1996) found that RAD2 forms a stable subassembly with TFIIH, which they designated nucleotide excision repair factor-3 (NEF3). Association with TFIIH provided a means of targeting RAD2 to the damaged site, where its endonuclease activity would mediate the 3-prime incision. Habraken et al. (1996) speculated that mutations in XPB, XPD, and XPG that result in Cockayne syndrome all impair TFIIH function in a similar manner by resulting in a deficiency in the rate of elongation of certain transcripts. </p><p>Volker et al. (2001) described the assembly of the NER complex in normal and repair-deficient (xeroderma pigmentosum) human cells by employing a novel technique of local ultraviolet irradiation combined with fluorescent antibody labeling. The damage-recognition complex XPC (613208)-HR23B (RAD23B; 600062) appeared to be essential for the recruitment of all subsequent NER factors in the preincision complex, including transcription repair factor TFIIH. Volker et al. (2001) found that XPA (611153) associated relatively late, was required for anchoring of subsequent subunits, and appeared to be essential for activation of the endonuclease activity of XPG. These findings identified XPC as the earliest known NER factor in the reaction mechanism and supported a concept of sequential assembly of repair proteins at the site of damage rather than a preassembled 'repairosome.' </p><p>Lee et al. (2002) provided evidence that S. cerevisiae Rad2 is involved in promoting efficient RNA polymerase II transcription. Inactivation of Rad26, the S. cerevisiae counterpart of the human ERCC6 gene, also caused a deficiency in transcription, and a synergistic decline in transcription occurred in the absence of both the Rad2 and Rad26 genes. Growth was also retarded in Rad2-deletion and Rad26-deletion single mutant strains, and a very severe growth inhibition was seen in Rad2-deletion/Rad26-deletion double mutants. </p><p>Sarker et al. (2005) found that XPG interacted with elongating RNA polymerase II in HeLa cells and bound stalled ternary complexes in vitro both independently and cooperatively with ERCC6. XPG bound transcription-sized DNA bubbles, through 2 domains not required for incision, stimulated ERCC6 binding to DNA bubbles and enhanced the ATPase activity of ERCC6. Bound RNA polymerase II blocked bubble incision by XPG, but an ATP hydrolysis-dependent process involving TFIIH created access to the junction, allowing incision. Sarker et al. (2005) concluded that coordinated recognition of stalled transcription by XPG and ERCC6 initiates transcription-coupled repair, and that TFIIH-dependent remodeling of stalled RNA polymerase II without release may be sufficient to allow repair. </p><p>Ito et al. (2007) found that XPG forms a stable complex with TFIIH and that the complex was able to repair damaged DNA in an in vitro assay of NER using cell extracts from XPB, XPD, or XPG cells. A mutation in the XPG gene that lacked the C terminus (133530.0003) and was unable to bind TFIIH resulted in a severe phenotype with XPG/Cockayne syndrome, whereas a missense mutation (133530.0002) that retained the C terminus region and had the ability to bind TFIIH resulted in a milder XPG phenotype. Mutations in the XPG gene that disrupted the C terminal and prevented the association with TFIIH also resulted in the disassociation of CAK (CCNH; 601953) and XPD from TFIIH. Further in vitro studies showed that XPG cells were deficient in ligand-induced transactivation of nuclear receptors due to hypophosphorylation resulting from the disintegration of TFIIH subunits. Ito et al. (2007) suggested that defective transactivation of nuclear receptors may account for some of the variable phenotypic features associated with XPG/Cockayne syndrome, such as growth failure and hypogonadism. The findings indicated that XPG plays a role in the stabilization of TFIIH and in the regulation of gene expression. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Nouspikel and Clarkson (1994) found that 2 sibs with xeroderma pigmentosum complementation group G (XPG; 278780) were compound heterozygous for 2 point mutations in the ERCC5 gene (133530.0001; 133530.0002). </p><p>Lalle et al. (2002) found that the first 2 patients reported with XPG (Cheesbrough, 1978; Keijzer et al., 1979; Arlett et al., 1980) produced XPG protein with severely impaired endonuclease activity. Both patients were compound heterozygous for truncating mutations in the ERCC5 gene (133530.0009, 133530.0010) and another mutation (133530.0008 and 133530.0011, respectively). These cells, unlike those from xeroderma pigmentosum group G/Cockayne syndrome patients, were capable of limited transcription-coupled repair of oxidative lesions. Lalle et al. (2002) suggested that the residual ERCC5 activity in these patients was responsible for the absence of severe early-onset Cockayne syndrome symptoms. </p><p>Nouspikel et al. (1997) studied the nature of the molecular defect in the first 3 documented cases of combined XPG and Cockayne syndrome (see 278780) reported by Jaeken et al. (1989), Vermeulen et al. (1993), and Hamel et al. (1996). They found an unexpected common mutational pattern in the 3 patients with XPG/CS that was distinct from that found in 2 sibs with mild XPG without CS symptoms (Norris et al., 1987). Nouspikel et al. (1997) found that the 3 XPG/CS patients had mutations that were predicted to produce severely truncated XPG proteins. In contrast, 2 sib XPG patients without CS reported by Nouspikel and Clarkson (1994) were able to make full-length XPG, but had a mutation that inactivated its function in NER. The results suggested that XPG/CS mutations abolish interactions required for a second important XPG function and that it is the loss of this second function that leads to the CS clinical phenotype. (Note that Figure 6 of the report of Nouspikel et al. (1997) was retracted under a Voluntary Exclusion Agreement between one of the authors, Steven A. Leaden, and the U.S. Department of Health and Human Services. The other authors stated that the other findings and conclusions of the article were not challenged by retraction of Figure 6.) </p><p>Cleaver et al. (1999) reviewed mutations that had been described in the XPG gene. </p><p><strong><em>Cerebrooculofacioskeletal Syndrome 3</em></strong></p><p>
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In a boy, born of consanguineous Moroccan parents, with cerebrooculofacioskeletal syndrome-3 (COFS3; 616570) originally reported by Hamel et al. (1996), Nouspikel et al. (1997) identified a homozygous truncating mutation in the ERCC5 gene (133530.0003). </p><p>In 4 fetuses from a large consanguineous Pakistani kindred with COFS3, Drury et al. (2014) identified a homozygous truncating mutation in the ERCC5 gene (133530.0016) predicting the loss of the C terminus. The mutation, which was found by a combination of linkage analysis and exome sequencing, segregated with the disorder in the family. Functional studies of the variant were not performed. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Shiomi et al. (2004) created mice carrying mutations in the Xpg gene leading to C-terminal deletions in the protein. Mice homozygous for a mutation leading to deletion of the last 360 amino acids exhibited growth retardation and a shorter life span than controls, but they had a slightly milder CS phenotype than Xpg null mice. Mice homozygous for a mutation leading to deletion of the last 183 amino acids showed no growth abnormalities compared with wildtype mice. </p><p>Vermeij et al. (2016) reported that a dietary restriction of 30% tripled the median and maximal remaining lifespans of Ercc1 (126380) delta/- progeroid mice, strongly retarding numerous aspects of accelerated aging. Mice undergoing dietary restriction retained 50% more neurons and maintained full motor function far beyond the lifespan of mice fed ad libitum. Ercc5 -/- mice, another DNA repair-deficient progeroid mouse that models Cockayne syndrome (see 278780), responded similarly. The dietary restriction response in Ercc1 delta/- mice closely resembled the effects of dietary restriction in wildtype animals. Notably, liver tissue from Ercc1 delta/- mice fed ad libitum showed preferential extinction of the expression of long genes, a phenomenon also observed in several tissues aging normally. This is consistent with the accumulation of stochastic, transcription-blocking lesions that affect long genes more than short ones. Dietary restriction largely prevented this declining transcriptional output and reduced the number of gamma-H2AX (601772) DNA damage foci, indicating that dietary restriction preserves genome function by alleviating DNA damage. Vermeij et al. (2016) concluded that their findings established the Ercc1 delta/- mouse as a powerful model organism for health-sustaining interventions, revealed potential for reducing endogenous DNA damage, facilitated a better understanding of the molecular mechanism of dietary restriction, and suggested a role for counterintuitive dietary restriction-like therapy for human progeroid genome instability syndromes and possibly neurodegeneration in general. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Nomenclature</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Lehmann et al. (1994) recommended that the final C in the XPGC symbol be omitted and the gene cited as XPG. Furthermore, they recommended that when an inactivating mutation in the ERCC5 gene is identified in an XPG patient, XPG should be used as the gene symbol. </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>
|
|
<span class="mim-font">
|
|
<strong>History</strong>
|
|
</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
|
<p>Cooper et al. (1997) reported that oxidative damage, including thymine glycols, is removed by transcription-coupled repair in cells from normal individuals and from patients with xeroderma pigmentosum of complementation groups A (XPA; 278700), F (XPF; 278760), and G who have NER defects, but not from XPG patients who have severe Cockayne syndrome. Cooper et al. (2005) retracted the paper of Cooper et al. (1997), stating that the results were not valid as reported and that the overall integrity of the paper could not be supported by the presented results. </p>
|
|
</span>
|
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<div>
|
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<br />
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|
</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
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</span>
|
|
<strong>16 Selected Examples):</strong>
|
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</span>
|
|
</h4>
|
|
<div>
|
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<p />
|
|
</div>
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<div>
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|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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|
|
|
ERCC5, GLU960TER
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|
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|
<br />
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|
|
SNP: rs121434570,
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|
|
|
|
|
gnomAD: rs121434570,
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|
|
|
|
|
ClinVar: RCV000018034, RCV000587956, RCV003556039
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|
|
|
|
</span>
|
|
</div>
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|
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In lymphoblastoid cell lines derived from 2 sibs with xeroderma pigmentosum complementation group G (XPG; 278780), Nouspikel and Clarkson (1994) identified compound heterozygosity for 2 mutations in the ERCC5 gene: a 3075G-T transversion resulting in a glu960-to-ter (Q960X) substitution and a truncated protein of 959 amino acids, and A792V (133530.0002). In vitro functional expression studies showed that neither mutant protein was able to correct UV sensitivity. </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
|
|
</div>
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|
|
|
</div>
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|
<div>
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|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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<div>
|
|
<span class="mim-text-font">
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|
|
|
ERCC5, ALA792VAL
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|
<br />
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|
|
SNP: rs121434571,
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|
|
gnomAD: rs121434571,
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|
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|
|
ClinVar: RCV000018035, RCV005007865
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In 2 sibs with xeroderma pigmentosum complementation group G (XPG; 278780), Nouspikel and Clarkson (1994) identified a 2572C-T transition in the ERCC5 gene, resulting in an ala792-to-val (A792V) substitution. The mutation was found in compound heterozygosity with Q960X (133530.0001). In vitro functional expression studies showed that neither mutant protein was able to correct UV sensitivity. </p><p>Ito et al. (2007) found that the A792V mutant protein, which contains an intact C terminus, was able to bind TFIIH in a manner similar to that of wildtype ERCC5, likely resulting in the milder phenotype. </p>
|
|
</span>
|
|
</div>
|
|
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|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
|
|
|
<div>
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|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 CEREBROOCULOFACIOSKELETAL SYNDROME 3</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ERCC5, 1-BP DEL, 2972T
|
|
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|
|
<br />
|
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|
|
SNP: rs2140538834,
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|
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|
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|
|
ClinVar: RCV000018036
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with cerebrooculofacioskeletal syndrome-3 (COFS3; 616570) manifest as severe early-onset XPG/Cockayne syndrome reported by Hamel et al. (1996), Nouspikel et al. (1997) identified a homozygous 1-bp deletion (2972delT) in the ERCC5 gene, resulting in a frameshift after amino acid 925; another 55 amino acids unrelated to XPG would be added before the next in-frame stop codon. The child was born of first-cousin Moroccan parents and died at age 7 months. </p><p>Graham et al. (2001) referred to the case reported by Hamel et al. (1996) as one of COFS syndrome. The patient showed prenatal-onset growth deficiency, severe microcephaly, microphthalmia without cataracts, cleft palate, cutaneous photosensitivity, and brain atrophy without calcifications. Skin fibroblasts showed extreme cellular sensitivity to UV, comparable to that in classic xeroderma pigmentosum. Using in vitro studies, Ito et al. (2007) found that the mutant 2972delT protein, which lacked the C terminus, was unable to bind the TFIIH complex, likely resulting in the more severe phenotype. </p>
|
|
</span>
|
|
</div>
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|
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|
|
<div>
|
|
<br />
|
|
</div>
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|
|
|
</div>
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|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 XERODERMA PIGMENTOSUM GROUP G/COCKAYNE SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ERCC5, 1-BP DEL, 2170A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs1882806435,
|
|
|
|
|
|
|
|
ClinVar: RCV002266207, RCV002266208
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a Flemish girl with XPG/Cockayne syndrome (see 278780), Nouspikel et al. (1997) identified a homozygous 1-bp deletion within an AAA triplet at nucleotides 2170-2172, which resulted in a TGA stop codon after amino acid 659. Such a deletion was considered characteristic of a slippage error during DNA replication. The patient had psychomotor retardation, microcephaly, and was severely sunlight-sensitive with several pigmented cutaneous spots (Jaeken et al., 1989; Vermeulen et al., 1993). She died at 6.5 years of age. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 XERODERMA PIGMENTOSUM GROUP G/COCKAYNE SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ERCC5, ARG263TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121434572,
|
|
|
|
|
|
gnomAD: rs121434572,
|
|
|
|
|
|
ClinVar: RCV000018038
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In fibroblasts derived from a Flemish male with XPG/Cockayne syndrome (see 278780) Nouspikel et al. (1997) identified compound heterozygosity for 2 mutations in the ERCC5 gene: a 984C-T transition resulting in an arg263-to-ter (R263X) substitution and a severely truncated protein, and a 1-bp deletion (113530.0004) that had been identified in an unrelated Flemish girl. The 984C-T transition was located within a CpG dinucleotide and thus may have resulted from deamination of a 5-methylcytosine. The patient had extreme microcephaly, dysmorphism, and sun-sensitive skin with several pigmented spots. He died at age 20 months. The 2 patients were not known to be related, but possessed a very rare HLA haplotype in common. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 XERODERMA PIGMENTOSUM GROUP G/COCKAYNE SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ERCC5, GLN176TER
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121434573,
|
|
|
|
|
|
gnomAD: rs121434573,
|
|
|
|
|
|
ClinVar: RCV000018039
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with xeroderma pigmentosum complementation group G and neurologic involvement with features of Cockayne syndrome (see 278780) in infancy, Zafeiriou et al. (2001) identified compound heterozygosity for 2 mutations in the ERCC5 gene: a 526C-T transition resulting in a gln176-to-ter (Q176X) substitution, and P72H (133530.0007). Only a minor fraction of ERCC5 mRNA was encoded by the Q176X allele. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 XERODERMA PIGMENTOSUM GROUP G/COCKAYNE SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ERCC5, PRO72HIS
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121434574,
|
|
|
|
|
|
gnomAD: rs121434574,
|
|
|
|
|
|
ClinVar: RCV000018040
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with XPG/Cockayne syndrome (see 278780), Zafeiriou et al. (2001) identified a 215C-A transversion in the ERCC5 gene, resulting in a pro72-to-his (P72H) substitution. This mutation was found in compound heterozygosity with Q176X (133530.0006). The P72H substitution was expected to seriously impair the 3-prime endonuclease function of XPG. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0008 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ERCC5, LEU858PRO
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121434575,
|
|
|
|
|
|
|
|
ClinVar: RCV000018041
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In the first patient reported with xeroderma pigmentosum complementation group G (XPG; 278780) (Cheesbrough, 1978; Keijzer et al., 1979), Lalle et al. (2002) identified compound heterozygosity for 2 mutations in the ERCC5 gene. One allele carried a 2573T-C transition, resulting in a leu858-to-pro (L858P) substitution within the evolutionarily conserved I region that is thought to form part of the XPG endonuclease active site (Constantinou et al., 1999). The other allele carried a 4-bp deletion (133530.0009). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0009 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ERCC5, 4-BP DEL, 1114AGGA
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs786200919,
|
|
|
|
|
|
|
|
ClinVar: RCV000018042, RCV002276555, RCV005003376
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In the first patient reported with xeroderma pigmentosum complementation group G (XPG; 278780) (Cheesbrough, 1978; Keijzer et al., 1979), Lalle et al. (2002) identified compound heterozygosity for 2 mutations in the ERCC5 gene: an L858P substitution (133530.0008), and a 4-bp deletion removing AGGA from nucleotide positions 1114 to 1117. The deletion created a frameshift resulting in a truncated protein of 376 amino acids. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0010 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ERCC5, 1-BP DEL, 1491A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs786200920,
|
|
|
|
|
|
|
|
ClinVar: RCV000018043
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with xeroderma pigmentosum complementation group G (XPG; 278780) reported by Arlett et al. (1980), Lalle et al. (2002) identified deletion of an adenosine from a stretch of 4 adenosines at nucleotides 1491 to 1494 of the ERCC5 gene. The resulting frameshift generated a truncated protein of 521 amino acids, the last 23 being unrelated to XPG. The other allele carried a deletion of an adenosine in a stretch of 9 adenosines (133530.0011). </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0011 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ERCC5, 1-BP DEL, 2743A
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs752661599,
|
|
|
|
|
|
gnomAD: rs752661599,
|
|
|
|
|
|
ClinVar: RCV000018044, RCV001194154, RCV003556040, RCV005003377
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a patient with xeroderma pigmentosum complementation group G (XPG; 278780), Lalle et al. (2002) identified compound heterozygosity for 2 small deletions in the ERCC5 gene. One allele had deletion of an adenosine at position 1491 (133530.0010), and the other had a deletion of an adenosine in a stretch of 9 adenosines at positions 2743 to 2751 of the ERCC5 gene. The authors designated this mutation 2751delA. An intron whose splice donor and acceptor sites are noncanonical is located between the deletion and the termination codon resulting from the frameshift; the mutation caused a minor alternative splicing event that removed the first 2 nucleotides of the following exon (2880-2881del). In this patient, the combination of this splicing event and the single-nucleotide deletion at position 2751 was predicted to restore the reading frame and thereby generate an almost full-length XPG protein of 1,185, instead of 1,186, amino acids. Such a protein would contain an internal stretch of 44 unrelated amino acids. </p>
|
|
</span>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0012 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ERCC5, ALA874THR
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs121434576,
|
|
|
|
|
|
gnomAD: rs121434576,
|
|
|
|
|
|
ClinVar: RCV000018045, RCV001844013, RCV002513091
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>Emmert et al. (2002) reported a mildly affected 14-year-old Caucasian female with xeroderma pigmentosum complementation group G (XPG; 278780) who was compound heterozygous for 2 mutations in the ERCC5 gene: an early stop codon (Q136X; 133530.0013) and a 2817G-A transition resulting in an ala874-to-thr (A874T) substitution. The A874T mutant protein showed residual ability to complement XPG cells in vitro. The observations agreed with earlier studies demonstrating that XPG patients who retain residual functional activity in 1 allele can have mild clinical features without neurologic abnormalities. The patient had sun sensitivity but no neurologic abnormalities. </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">
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<strong>.0013 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G</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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ERCC5, GLN136TER
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<br />
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SNP: rs121434577,
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ClinVar: RCV000018046
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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 mildly affected girl with xeroderma pigmentosum complementation group G (XPG; 278780), Emmert et al. (2002) identified compound heterozygosity for 2 mutations in the ERCC5 gene: a 603C-T transition in exon 4 resulting in a gln136-to-ter (Q136X) substitution and A874T (133530.0012). The A874T mutant protein retained residual activity. </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>.0014 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G</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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ERCC5, ALA28ASP
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<br />
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SNP: rs267607281,
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ClinVar: RCV000034376
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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 sibs, born of unrelated Brazilian parents, with xeroderma pigmentosum complementation group G (XPG; 278780), Soltys et al. (2013) identified compound heterozygosity for 2 mutations in the ERCC5 gene: an 83C-A transversion, resulting in an ala28-to-asp (A28D) substitution at the N-endonucleolytic site, and a 2904G-C transversion, resulting in a trp968-to-cys (W968C; 133530.0015) substitution in the protein domain believed to be responsible for protein-DNA contact. In vitro functional expression studies showed that both mutant proteins were able to partially restore activity in cells lacking ERCC5 in response to UV light, but not as well as the wildtype protein. Both mutant proteins showed activity comparable to wildtype in response to oxidative stress. The patients had a relatively mild form of the disorder, with photosensitivity first apparent in infancy, but had no history of skin cancer or skin cancer precursor lesions up to ages 22 and 17 years, respectively. Patient cells showed a strong DNA repair defect in response to UV light, but not in response to oxidative stress. Soltys et al. (2013) suggested that more severe ERCC5 defects that also impair the response to oxidative stress-induced injury, usually truncating mutations, (see, e.g., 133530.0003) are associated with the more severe phenotype observed in Cockayne syndrome. </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>.0015 XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP G</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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ERCC5, TRP968CYS
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<br />
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SNP: rs267607280,
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ClinVar: RCV000034377
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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|
<p>For discussion of the trp968-to-cys (W968C) mutation in the ERCC5 gene that was found in compound heterozygous state in patients with xeroderma pigmentosum complementation group G (XPG; 278780) by Soltys et al. (2013), see 133530.0014. </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>.0016 CEREBROOCULOFACIOSKELETAL SYNDROME 3</strong>
|
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</span>
|
|
</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ERCC5, 1-BP DUP, 2766A
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<br />
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SNP: rs760232640,
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gnomAD: rs760232640,
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ClinVar: RCV000191920
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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 4 fetuses, born of consanguineous Pakistani parents, with cerebrooculofacioskeletal syndrome-3 (COFS3; 616570), Drury et al. (2014) identified a homozygous 1-bp duplication (c.2766dupA) in exon 13 of the ERCC5 gene, resulting in a frameshift and premature termination (Leu923ThrfsTer7) that would eliminate the C terminus. The mutation, which was found by a combination of linkage analysis and exome sequencing, segregated with the disorder in the family. Functional studies of the variant were not performed. </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>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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|
Arlett, C. F., Harcourt, S. A., Lehman, A. R., Stevens, S., Ferguson-Smith, M. A., Morley, W. N.
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<strong>Studies on a new case of xeroderma pigmentosum (XP3BR) from complementation group G with cellular sensitivity to ionizing radiation.</strong>
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Carcinogenesis 1: 745-751, 1980.
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[PubMed: 11219864]
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[Full Text: https://doi.org/10.1093/carcin/1.9.745]
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<li>
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<p class="mim-text-font">
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Cheesbrough, M. J.
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<strong>Xeroderma pigmentosum--a unique variant with neurological involvement.</strong>
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Brit. J. Derm. 99 (Suppl. 16): 61 only, 1978.
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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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<p class="mim-text-font">
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Constantinou, A., Gunz, D., Evans, E., Lalle, P., Bates, P. A., Wood, R. D., Clarkson, S. G.
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<strong>Conserved residues of human XPG protein important for nuclease activity and function in nucleotide excision repair.</strong>
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<li>
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<p class="mim-text-font">
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Cooper, P. K., Nouspikel, T., Clarkson, S. G., Leadon, S. A.
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<strong>Defective transcription-coupled repair of oxidative base damage in Cockayne syndrome patients from XP group G.</strong>
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Science 275: 990-993, 1997. Note: Retraction: Science 308: 1740 only, 2005.
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[PubMed: 9020084]
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[Full Text: https://doi.org/10.1126/science.275.5302.990]
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<p class="mim-text-font">
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Cooper, P. K., Nouspikel, T., Clarkson, S. G.
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<strong>Retraction.</strong>
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Science 308: 1740 only, 2005.
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[PubMed: 15961651]
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[Full Text: https://doi.org/10.1126/science.308.5729.1740b]
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<li>
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<p class="mim-text-font">
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Drury, S., Boustred, C., Tekman, M., Stanescu, H., Kleta, R., Lench, N., Chitty, L. S., Scott, R. H.
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<strong>A novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlation.</strong>
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Am. J. Med. Genet. 164A: 1777-1783, 2014.
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[PubMed: 24700531]
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[Full Text: https://doi.org/10.1002/ajmg.a.36506]
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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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Emmert, S., Schneider, T. D., Khan, S. G., Kraemer, K. H.
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<strong>The human XPG gene: gene architecture, alternative splicing and single nucleotide polymorphisms.</strong>
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Nucleic Acids Res. 29: 1443-1452, 2001.
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[PubMed: 11266544]
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[Full Text: https://doi.org/10.1093/nar/29.7.1443]
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</p>
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<li>
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<p class="mim-text-font">
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Emmert, S., Slor, H., Busch, D. B., Batko, S., Albert, R. B., Coleman, D., Khan, S. G., Abu-Libdeh, B., DiGiovanna, J. J., Cunningham, B. B., Lee, M.-M., Crollick, J., Inui, H., Ueda, T., Hedayati, M., Grossman, L., Shahlavi, T., Cleaver, J. E., Kraemer, K. H.
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<strong>Relationship of neurologic degeneration to genotype in three xeroderma pigmentosum group G patients.</strong>
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J. Invest. Derm. 118: 972-982, 2002. Note: Erratum: J. Invest. Derm. 120: 173 only, 2003.
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[Full Text: https://doi.org/10.1046/j.1523-1747.2002.01782.x]
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Gersen, S., Warburton, D., Jackson, C. L., Housman, D.
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<strong>Regional localization of the excision repair gene ERCC5 on chromosome 13. (Abstract)</strong>
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Cytogenet. Cell Genet. 51: 1003 only, 1989.
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<p class="mim-text-font">
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Graham, J. M., Jr., Anyane-Yeboa, K., Raams, A., Appeldoorn, E., Kleijer, W. J., Garritsen, V. H., Busch, D., Edersheim, T. G., Jaspers, N. G. J.
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<strong>Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.</strong>
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<p class="mim-text-font">
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Habraken, Y., Sung, P., Prakash, L., Prakash, S.
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<strong>Human xeroderma pigmentosum group G gene encodes a DNA endonuclease.</strong>
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Nucleic Acids Res. 22: 3312-3316, 1994.
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[PubMed: 8078765]
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<li>
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<p class="mim-text-font">
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Habraken, Y., Sung, P., Prakash, S., Prakash, L.
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<strong>Transcription factor TFIIH and DNA endonuclease Rad2 constitute yeast nucleotide excision repair factor 3: implications for nucleotide excision repair and Cockayne syndrome.</strong>
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Proc. Nat. Acad. Sci. 93: 10718-10722, 1996.
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[PubMed: 8855246]
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[Full Text: https://doi.org/10.1073/pnas.93.20.10718]
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<p class="mim-text-font">
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Hamel, B. C. J., Raams, A., Schuitema-Dijkstra, A. R., Simons, P., van der Burgt, I., Jaspers, N. G. J., Kleijer, W. J.
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<strong>Xeroderma pigmentosum-Cockayne syndrome complex: a further case.</strong>
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J. Med. Genet. 33: 607-610, 1996.
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</p>
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<p class="mim-text-font">
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Harada, Y.-N., Matsuda, Y., Shiomi, N., Shiomi, T.
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<strong>Complementary DNA sequence and chromosomal localization of xpg, the mouse counterpart of human repair gene XPG/ERCC5.</strong>
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Genomics 28: 59-65, 1995.
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[PubMed: 7590748]
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[Full Text: https://doi.org/10.1006/geno.1995.1106]
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</p>
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<li>
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<p class="mim-text-font">
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Hori, T., Shiomi, T., Sato, K.
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<strong>Human chromosome 13 compensates a DNA repair defect in UV-sensitive mouse cells by mouse-human cell hybridization.</strong>
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Proc. Nat. Acad. Sci. 80: 5655-5659, 1983.
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[PubMed: 6577448]
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[Full Text: https://doi.org/10.1073/pnas.80.18.5655]
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</p>
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<li>
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<p class="mim-text-font">
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Ito, S., Kuraoka, I., Chymkowitch, P., Compe, E., Takedachi, A., Ishigami, C., Coin, F., Egly, J.-M., Tanaka, K.
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<strong>XPG stabilizes TFIIH, allowing transactivation of nuclear receptors: implications for Cockayne syndrome in XP-G/CS patients.</strong>
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Molec. Cell 26: 231-243, 2007.
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[PubMed: 17466625]
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[Full Text: https://doi.org/10.1016/j.molcel.2007.03.013]
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<p class="mim-text-font">
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Jaeken, J., Klocker, H., Schwaiger, H., Bellmann, R., Hirsch-Kauffmann, M., Schweiger, M.
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<strong>Clinical and biochemical studies in three patients with severe early infantile Cockayne syndrome.</strong>
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Hum. Genet. 83: 339-346, 1989.
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[PubMed: 2478446]
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[Full Text: https://doi.org/10.1007/BF00291378]
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</p>
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<li>
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<p class="mim-text-font">
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Keijzer, W., Jaspers, N. G. J., Abrahams, P. J., Taylor, A. M. R., Arlett, C. F., Zelle, B., Takebe, H., Kinmont, P. D. S., Bootsma, D.
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<strong>A seventh complementation group in excision-deficient xeroderma pigmentosum.</strong>
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Mutat. Res. 62: 183-190, 1979.
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[PubMed: 492197]
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[Full Text: https://doi.org/10.1016/0027-5107(79)90231-8]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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|
Lalle, P., Nouspikel, T., Constantinou, A., Thorel, F., Clarkson, S. G.
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<strong>The founding members of xeroderma pigmentosum group G produce XPG protein with severely impaired endonuclease activity.</strong>
|
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J. Invest. Derm. 118: 344-351, 2002.
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[PubMed: 11841555]
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[Full Text: https://doi.org/10.1046/j.0022-202x.2001.01673.x]
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</p>
|
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</li>
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<li>
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<p class="mim-text-font">
|
|
Lee, S.-K., Yu, S.-L., Prakash, L., Prakash, S.
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<strong>Requirement of yeast RAD2, a homolog of human XPG gene, for efficient RNA polymerase II transcription: implications for Cockayne syndrome.</strong>
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Cell 109: 823-834, 2002.
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[PubMed: 12110180]
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[Full Text: https://doi.org/10.1016/s0092-8674(02)00795-x]
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</p>
|
|
</li>
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<li>
|
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<p class="mim-text-font">
|
|
Lehmann, A. R., Bootsma, D., Clarkson, S. G., Cleaver, J. E., McAlpine, P. J., Tanaka, K., Thompson, L. H., Wood, R. D.
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|
<strong>Nomenclature of human DNA repair genes.</strong>
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|
Mutat. Res. 315: 41-42, 1994.
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[PubMed: 7517009]
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|
|
[Full Text: https://doi.org/10.1016/0921-8777(94)90026-4]
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</p>
|
|
</li>
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<li>
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Printed: March 5, 2025
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OMIM Donation:
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Dear OMIM User,
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To ensure long-term funding for the OMIM project, we have diversified
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our revenue stream. We are determined to keep this website freely
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accessible. Unfortunately, it is not free to produce. Expert curators
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review the literature and organize it to facilitate your work. Over 90%
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of the OMIM's operating expenses go to salary support for MD and PhD
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science writers and biocurators. Please join your colleagues by making a
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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