3858 lines
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3858 lines
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Entry
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- *126380 - ERCC EXCISION REPAIR 1, ENDONUCLEASE NONCATALYTIC SUBUNIT; ERCC1
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- OMIM
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</form>
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*126380</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>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/126380">Table View</a>
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</li>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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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=ENSG00000012061;t=ENST00000300853" 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=2067" 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=126380" 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=ENSG00000012061;t=ENST00000300853" 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_001166049,NM_001369408,NM_001369409,NM_001369410,NM_001369411,NM_001369412,NM_001369413,NM_001369414,NM_001369415,NM_001369416,NM_001369417,NM_001369418,NM_001369419,NM_001983,NM_202001" 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_001983" 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=126380" 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=00533&isoform_id=00533_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/ERCC1" 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/119538,182174,182177,517060,2583146,4262134,4503599,14286266,15146354,18030024,21105797,31127248,42544169,54696474,119577752,119577753,119577754,189054601,193787266,260593725,1609559148,1609559150,1609559152,1609559154,1609559156,1609559158,1609559160,1609559162,1609559164,1609559166,1609559168,1609559170" 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/P07992" 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=2067" 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=ENSG00000012061;t=ENST00000300853" 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=ERCC1" 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=ERCC1" 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+2067" 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/ERCC1" 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:2067" 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/2067" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr19&hgg_gene=ENST00000300853.8&hgg_start=45407334&hgg_end=45451547&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:3433" 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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=126380[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=126380[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000012061" 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=ERCC1" 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=ERCC1" 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=ERCC1" 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=ERCC1&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/PA155" 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:3433" 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/FBgn0028434.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:95412" 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/ERCC1#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:95412" 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/2067/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=2067" 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=WBGene00008665;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040426-2606" 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">
|
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<div style="display: table-row">
|
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
|
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</a>
|
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:126380" 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:2067" 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=ERCC1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
|
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
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126380
|
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</span>
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</span>
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</div>
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</div>
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<div>
|
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<a id="preferredTitle" class="mim-anchor"></a>
|
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<h3>
|
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<span class="mim-font">
|
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ERCC EXCISION REPAIR 1, ENDONUCLEASE NONCATALYTIC SUBUNIT; ERCC1
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</span>
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</h3>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
|
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<em>Alternative titles; symbols</em>
|
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</span>
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</p>
|
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</div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 1<br />
|
|
DNA REPAIR DEFECT UV-20 OF CHINESE HAMSTER OVARY CELLS, COMPLEMENTATION OF; UV20
|
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</span>
|
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</h4>
|
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ERCC1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ERCC1</a></em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/19/821?start=-3&limit=10&highlight=821">19q13.32</a>
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr19:45407334-45451547&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">19:45,407,334-45,451,547</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
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|
|
|
|
|
|
</span>
|
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</p>
|
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</div>
|
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|
|
|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
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|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/19/821?start=-3&limit=10&highlight=821">
|
|
19q13.32
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Cerebrooculofacioskeletal syndrome 4
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/610758"> 610758 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
|
|
|
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</tr>
|
|
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</tbody>
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<p>The ERCC1 gene encodes a protein involved in nucleotide excision repair (NER) and interstrand crosslink (ICL) repair of DNA. ERCC1 interacts with ERCC4 (<a href="/entry/133520">133520</a>) to form an endonuclease that excises the DNA for subsequent repair. ERCC1 is needed for stabilizing and enhancing ERCC4 activity (summary by <a href="#5" class="mim-tip-reference" title="Gregg, S. Q., Robinson, A. R., Niedernhofer, L. J. <strong>Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease.</strong> DNA Repair 10: 781-791, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21612988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21612988</a>] [<a href="https://doi.org/10.1016/j.dnarep.2011.04.026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21612988">Gregg et al., 2011</a> and <a href="#11" class="mim-tip-reference" title="Kashiyama, K., Nakazawa, Y., Pilz, D. T., Guo, C., Shimada, M., Sasaki, K., Fawcett, H., Wing, J. F., Lewin, S. O., Carr, L., Li, T.-S., Yoshiura, K., and 14 others. <strong>Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.</strong> Am. J. Hum. Genet. 92: 807-819, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23623389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23623389</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23623389[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/10.1016/j.ajhg.2013.04.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23623389">Kashiyama et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=23623389+21612988" 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>Following DNA-mediated gene transfer into Chinese hamster ovary (CHO) mutant cells that, like xeroderma pigmentosum (see <a href="/entry/278700">278700</a>) cells, are sensitive to a variety of DNA damaging agents and are defective in the initial incision step of DNA repair, <a href="#22" class="mim-tip-reference" title="Rubin, J. S., Joyner, A. L., Bernstein, A., Whitmore, G. F. <strong>Molecular identification of a human DNA repair gene following DNA-mediated gene transfer.</strong> Nature 306: 206-208, 1983.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6417541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6417541</a>] [<a href="https://doi.org/10.1038/306206a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6417541">Rubin et al. (1983)</a> identified the human DNA repair gene ERCC1. The resulting transformants exhibited normal resistance to DNA damaging agents, and independent transformants demonstrated a common set of human DNA sequences associated with a human DNA repair gene. Thus, both direct biologic and molecular evidence for DNA-mediated transfer of a human DNA repair gene into repair-deficient hamster mutants was provided. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6417541" 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="#14" class="mim-tip-reference" title="Li, L., Elledge, S. J., Peterson, C. A., Bales, E. S., Legerski, R. J. <strong>Specific association between the human DNA repair proteins XPA and ERCC1.</strong> Proc. Nat. Acad. Sci. 91: 5012-5016, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8197174/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8197174</a>] [<a href="https://doi.org/10.1073/pnas.91.11.5012" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8197174">Li et al. (1994)</a> demonstrated that the repair protein XPA (<a href="/entry/611153">611153</a>) is a factor that associates with ERCC1. A possible function of XPA, suggested by their results, is the loading and possible orientation of an incision complex containing ERCC1 and other repair factors to the site of DNA damage. <a href="#20" class="mim-tip-reference" title="Park, C.-H., Sancar, A. <strong>Formation of a ternary complex by human XPA, ERCC1, and ERCC4 (XPF) excision repair proteins.</strong> Proc. Nat. Acad. Sci. 91: 5017-5021, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8197175/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8197175</a>] [<a href="https://doi.org/10.1073/pnas.91.11.5017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8197175">Park and Sancar (1994)</a> presented the results of studies leading them to conclude that XPA, ERCC1, and ERCC4 (<a href="/entry/133520">133520</a>) proteins form a ternary complex that participates in both damage recognition and incision activities. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8197174+8197175" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#25" class="mim-tip-reference" title="Sijbers, A. M., van der Spek, P. J., Odijk, H., van den Berg, J., van Duin, M., Westerveld, A., Jaspers, N. G. J., Bootsma, D., Hoeijmakers, J. H. J. <strong>Mutational analysis of the human nucleotide excision repair gene ERCC1.</strong> Nucleic Acids Res. 24: 3370-3380, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8811092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8811092</a>] [<a href="https://doi.org/10.1093/nar/24.17.3370" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8811092">Sijbers et al. (1996)</a> performed mutation analysis on ERCC1. They found that the poorly conserved N-terminal 91 amino acids are not essential for its repair functions, whereas the C terminus is essential for enzymatic activity and is presumed to be a structure-specific endonuclease. Mutations in the central region gave rise to unstable proteins, leading the authors to suggest that this region is involved in protein-protein interactions. <a href="#25" class="mim-tip-reference" title="Sijbers, A. M., van der Spek, P. J., Odijk, H., van den Berg, J., van Duin, M., Westerveld, A., Jaspers, N. G. J., Bootsma, D., Hoeijmakers, J. H. J. <strong>Mutational analysis of the human nucleotide excision repair gene ERCC1.</strong> Nucleic Acids Res. 24: 3370-3380, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8811092/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8811092</a>] [<a href="https://doi.org/10.1093/nar/24.17.3370" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8811092">Sijbers et al. (1996)</a> stated that ERCC1 is involved in both UV cross-link repair and nucleotide excision repair (NER) and presented evidence that cross-link repair requires lower amounts of ERCC1 than does NER, which may explain why group F xeroderma pigmentosum (XPF; <a href="/entry/278760">278760</a>) patients present a deficiency in NER rather than in cross-link repair. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8811092" 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>To study the nuclear organization and dynamics of nucleotide excision repair, <a href="#8" class="mim-tip-reference" title="Houtsmuller, A. B., Rademakers, S., Nigg, A. L., Hoogstraten, D., Hoeijmakers, J. H. J., Vermeulen, W. <strong>Action of DNA repair endonuclease ERCC1/XPF in living cells.</strong> Science 284: 958-961, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10320375/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10320375</a>] [<a href="https://doi.org/10.1126/science.284.5416.958" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10320375">Houtsmuller et al. (1999)</a> tagged the ERCC1 subunit of the ERCC1/XPF endonuclease with green fluorescent protein and monitored its mobility in living Chinese hamster ovary cells. In the absence of DNA damage, the complex moved freely through the nucleus, with a diffusion coefficient (15 +/- 5 square microns per second) consistent with its molecular size. Ultraviolet light-induced DNA damage caused a transient dose-dependent immobilization of ERCC1/XPF, likely due to engagement of the complex in a single repair event. After 4 minutes, the complex regained mobility. These results suggested that nucleotide excision repair operates by assembly of individual nucleotide excision repair factors at sites of DNA damage rather than by preassembly of holocomplexes, and that ERCC1/XPF participates in repair of DNA damage in a distributive fashion rather than by processive scanning of large genome segments. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10320375" 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="#34" 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 (<a href="/entry/600062">600062</a>) appeared to be essential for the recruitment of all subsequent NER factors in the preincision complex, including transcription repair factor TFIIH (see <a href="/entry/189972">189972</a>). <a href="#34" class="mim-tip-reference" title="Volker, M., Mone, M. J., Karmakar, P., van Hoffen, A., Schul, W., Vermeulen, W., Hoeijmakers, J. H. J., van Driel, R., van Zeeland, A. A., Mullenders, L. H. F. <strong>Sequential assembly of the nucleotide excision repair factors in vivo.</strong> Molec. Cell 8: 213-224, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11511374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11511374</a>] [<a href="https://doi.org/10.1016/s1097-2765(01)00281-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11511374">Volker et al. (2001)</a> found that XPA associates relatively late, is required for anchoring of ERCC1-XPF, and may be essential for activation of the endonuclease activity of XPG (<a href="/entry/133530">133530</a>). These findings identified XPC as the earliest known NER factor in the reaction mechanism, gave insight into the order of subsequent NER components, provided evidence for a dual role of XPA, and supported a concept of sequential assembly of repair proteins at the site of damage rather than a preassembled repairosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11511374" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Repair of double-strand breaks in DNA via the Fanconi anemia (FA; <a href="/entry/227650">227650</a>) pathway requires the monoubiquitination of FANCD2 (<a href="/entry/227646">227646</a>), leading to the accumulation of ubiquitinated FANCD2 at sites of DNA damage. Using normal human fibroblasts depleted of ERCC1 via small interfering RNA and fibroblasts from FA patients, <a href="#16" class="mim-tip-reference" title="McCabe, K. M., Hemphill, A., Akkari, Y., Jakobs, P. M., Pauw, D., Olson, S. B., Moses, R. E., Grompe, M. <strong>ERCC1 is required for FANCD2 focus formation.</strong> Molec. Genet. Metab. 95: 66-73, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18672388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18672388</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18672388[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/10.1016/j.ymgme.2008.06.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18672388">McCabe et al. (2008)</a> showed that ERCC1 was required for both monoubiquitination of FANCD2 and the accumulation of ubiquitinated FANCD2 at sites of DNA damage. ERCC1 was required for FANCD2 foci formation following DNA crosslinking, which can be repaired following the formation of a double-strand break, and on stalled replication forks, which include double-strand breaks. <a href="#16" class="mim-tip-reference" title="McCabe, K. M., Hemphill, A., Akkari, Y., Jakobs, P. M., Pauw, D., Olson, S. B., Moses, R. E., Grompe, M. <strong>ERCC1 is required for FANCD2 focus formation.</strong> Molec. Genet. Metab. 95: 66-73, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18672388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18672388</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18672388[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/10.1016/j.ymgme.2008.06.009" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18672388">McCabe et al. (2008)</a> concluded that ERCC1 is not required for the formation of double-strand breaks but is required for the activation of FANCD2 for their repair. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18672388" 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 coimmunoprecipitation and yeast 2-hybrid analyses, <a href="#21" class="mim-tip-reference" title="Perez-Oliva, A. B., Lachaud, C., Szyniarowski, P., Munoz, I., Macartney, T., Hickson, I., Rouse, J., Alessi, D. R. <strong>USP45 deubiquitylase controls ERCC1-XPF endonuclease-mediated DNA damage responses.</strong> EMBO J. 34: 326-343, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25538220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25538220</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25538220[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/10.15252/embj.201489184" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25538220">Perez-Oliva et al. (2015)</a> found that the N-terminal 61 amino acids of human USP45 (<a href="/entry/618439">618439</a>) interacted with ERCC1. USP45 deubiquitylated ERCC1 both in vitro and in vivo, and association of USP45 with ERCC1 was required for ERCC1 deubiquitylation. USP45 promoted survival of U2OS osteosarcoma cells exposed to DNA-damaging agents and induced DNA damage responses controlled by the ERCC1-XPF endonuclease. USP45 exerted its effects not by stabilizing ERCC1 expression, but by regulating recruitment of ERCC1 to DNA damage sites. USP45 localized to DNA lesions resulting from DNA-damaging agents and controlled repair. Live-cell fluorescence analysis revealed that recruitment of USP45 to damage sites was rapid, transient, and independent of ERCC1-XPF. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25538220" 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="mim-changed mim-change"><p>The ERCC1 gene contains 10 exons spread over approximately 15 kb (<a href="#32" class="mim-tip-reference" title="van Duin, M., Koken, M. H. M., van den Tol, J., ten Dijke, P., Odijk, H., Westerveld, A., Bootsma, D., Hoeijmakers, J. H. J. <strong>Genomic characterization of the human DNA excision repair gene ERCC-1.</strong> Nucleic Acids Res. 15: 9195-9213, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3684592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3684592</a>] [<a href="https://doi.org/10.1093/nar/15.22.9195" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3684592">van Duin et al., 1987</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3684592" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p></div>
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<p><a href="#24" class="mim-tip-reference" title="Siciliano, M. J., Carrano, A. V., Thompson, L. H. <strong>Chromosome 19 corrects two complementing DNA repair mutations present in CHO cells. (Abstract)</strong> Cytogenet. Cell Genet. 40: 744-745, 1985."None>Siciliano et al. (1985)</a> assigned 2 genes that complement separate DNA repair mutations in Chinese hamster ovary (CHO) cells to human chromosome 19. One of them complemented a CHO DNA repair deficiency mutant called UV20; the human locus was called ERCC1 (<a href="#28" class="mim-tip-reference" title="Thompson, L. H., Mooney, C. L., Burkhart-Schultz, K., Carrano, A. V., Siciliano, M. J. <strong>Correction of a nucleotide-excision-repair mutation by human chromosome 19 in hamster-human hybrid cells.</strong> Somat. Cell Molec. Genet. 11: 87-92, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3919454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3919454</a>] [<a href="https://doi.org/10.1007/BF01534738" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3919454">Thompson et al., 1985</a>). The other CHO repair mutant, called EM9, differed in respect to the agents to which it was sensitive and had greatly increased sister chromatid exchanges (<a href="#27" class="mim-tip-reference" title="Thompson, L. H., Brookman, K. W., Dillehay, L. E., Carrano, A. V., Mazrimas, J. A., Mooney, C. L., Minkler, J. L. <strong>A CHO-cell strain having hypersensitivity to mutagens, a defect in DNA strand-break repair, and an extraordinary baseline frequency of sister-chromatid exchange.</strong> Mutat. Res. 95: 427-440, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6889677/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6889677</a>] [<a href="https://doi.org/10.1016/0027-5107(82)90276-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6889677">Thompson et al., 1982</a>) as in Bloom syndrome (<a href="/entry/210900">210900</a>); the human locus was called ERCC2 (<a href="/entry/126340">126340</a>). Human chromosome 19 is thought to be homologous to hamster 9--both have GPI (<a href="/entry/172400">172400</a>) and PEPD (<a href="/entry/613230">613230</a>)--and in CHO cells chromosome 9 is hemizygous. The findings probably indicate that the 2 DNA repair genes are syntenic in the hamster also. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6889677+3919454" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="de Wit, J., Hoeijmakers, J. H. J., van Duin, M., van Agthoven, T., Geurts van Kessel, A. H. M., Westerveld, A., Bootsma, D. <strong>Assignment of the DNA repair gene (ERCC1) to human chromosome 19. (Abstract)</strong> Cytogenet. Cell Genet. 40: 617 only, 1985."None>De Wit et al. (1985)</a> also mapped to chromosome 19 a human DNA repair gene that complemented the defect in a repair-defective CHO cell line. ERCC1 was so named for 'excision repair complementing defective repair in Chinese hamster.' <a href="#4" class="mim-tip-reference" title="de Wit, J., Hoeijmakers, J. H. J., van Duin, M., van Agthoven, T., Geurts van Kessel, A. H. M., Westerveld, A., Bootsma, D. <strong>Assignment of the DNA repair gene (ERCC1) to human chromosome 19. (Abstract)</strong> Cytogenet. Cell Genet. 40: 617 only, 1985."None>De Wit et al. (1985)</a> concluded that this is the same gene as that found by <a href="#23" class="mim-tip-reference" title="Rubin, J. S., Prideaux, V. R., Willard, H. F., Dulhanty, A. M., Whitmore, G. F., Bernstein, A. <strong>Molecular cloning and chromosomal localization of DNA sequences associated with a human DNA repair gene.</strong> Molec. Cell. Biol. 5: 398-405, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2983193/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2983193</a>] [<a href="https://doi.org/10.1128/mcb.5.2.398-405.1985" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2983193">Rubin et al. (1985)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2983193" 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 somatic cell hybridization, <a href="#1" class="mim-tip-reference" title="Brook, J. D., Shaw, D. J., Meredith, A. L., Worwood, M., Cowell, J., Scott, J., Knott, T. J., Litt, M., Bufton, L., Harper, P. S. <strong>A somatic cell hybrid panel for chromosome 19: localization of known genes and RFLP's and orientation of the linkage group. (Abstract)</strong> Cytogenet. Cell Genet. 40: 590-591, 1985."None>Brook et al. (1985)</a> assigned the ERCC1 gene to chromosome 19q13.3-q13.2.</p><p>ERCC1 has significant amino acid sequence homology with the yeast excision repair protein RAD10 (<a href="#30" class="mim-tip-reference" title="van Duin, M., de Wit, J., Odijk, H., Westerveld, A., Yasui, A., Koken, M. H. M., Hoeijmakers, J. H. J., Bootsma, D. <strong>Molecular characterization of the human excision repair gene ERCC-1: cDNA cloning and amino acid homology with the yeast DNA repair gene RAD10.</strong> Cell 44: 913-923, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2420469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2420469</a>] [<a href="https://doi.org/10.1016/0092-8674(86)90014-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2420469">van Duin et al., 1986</a>). Another gene involved in DNA repair, XRCC1 (<a href="/entry/194360">194360</a>), is located in the same region of chromosome 19 (<a href="#2" class="mim-tip-reference" title="Carrano, A. V. <strong>Personal Communication.</strong> Livermore, Calif. 4/29/1988."None>Carrano, 1988</a>). In the course of characterizing ERCC1, <a href="#6" class="mim-tip-reference" title="Hoeijmakers, J. H. J., Weeda, G., Troelstra, C., van Duin, M., Wiegant, J., van der Ploeg, M., Geurts van Kessel, A. H. M., Westerveld, A., Bootsma, D. <strong>(Sub)chromosomal localization of the human excision repair genes ERCC-3 and -6, and identification of a gene (ASE-1) overlapping with ERCC-1. (Abstract)</strong> Cytogenet. Cell Genet. 51: 1014 only, 1989."None>Hoeijmakers et al. (1989)</a> found that its 3-prime terminus overlapped the 3-prime end of another gene, designated ASE1 (antisense ERCC1; <a href="/entry/107325">107325</a>). This exceptional type of gene overlap was conserved in the mouse and even in the yeast ERCC1 homolog, RAD10, suggesting an important biologic function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2420469" 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>With automated fluorescence-based sequences, <a href="#15" class="mim-tip-reference" title="Martin-Gallardo, A., McCombie, W. R., Gocayne, J. D., FitzGerald, M. G., Wallace, S., Lee, B. M. B., Lamerdin, J., Trapp, S., Kelley, J. M., Liu, L.-I., Dubnick, M., Johnston-Dow, L. A., Kerlavage, A. R., de Jong, P., Carrano, A., Fields, C., Venter, J. C. <strong>Automated DNA sequencing and analysis of 106 kilobases from human chromosome 19q13.3.</strong> Nature Genet. 1: 34-39, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1301997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1301997</a>] [<a href="https://doi.org/10.1038/ng0492-34" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1301997">Martin-Gallardo et al. (1992)</a> sequenced a total of 116,118 bp derived from 3 cosmids spanning the ERCC1 locus. The assembled sequence analyzed by polymerase chain reaction (PCR) amplification and computer methods totaled 105,831 bp and contained, in addition to the ERCC1 gene, an FOSB protooncogene (<a href="/entry/164772">164772</a>), a gene encoding a protein phosphatase, and 2 genes of unknown function. The 19q13.3 light-band region had a high average density of 1.4 Alu repeats per kilobase. <a href="#15" class="mim-tip-reference" title="Martin-Gallardo, A., McCombie, W. R., Gocayne, J. D., FitzGerald, M. G., Wallace, S., Lee, B. M. B., Lamerdin, J., Trapp, S., Kelley, J. M., Liu, L.-I., Dubnick, M., Johnston-Dow, L. A., Kerlavage, A. R., de Jong, P., Carrano, A., Fields, C., Venter, J. C. <strong>Automated DNA sequencing and analysis of 106 kilobases from human chromosome 19q13.3.</strong> Nature Genet. 1: 34-39, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1301997/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1301997</a>] [<a href="https://doi.org/10.1038/ng0492-34" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1301997">Martin-Gallardo et al. (1992)</a> estimated that the light bands of the human karyotype could contain as many as 75,000 genes and 1.5 million Alu repeats. By several lines of evidence (<a href="#13" class="mim-tip-reference" title="Langlois, T. G., Yu, L.-C., Gray, J. W., Carrano, A. V. <strong>Quantitative karyotyping of human chromosomes by dual beam flow cytometry.</strong> Proc. Nat. Acad. Sci. 79: 7876-7880, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6961457/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6961457</a>] [<a href="https://doi.org/10.1073/pnas.79.24.7876" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6961457">Langlois et al., 1982</a>; <a href="#17" class="mim-tip-reference" title="McKusick, V. A. <strong>Current trends in mapping human genes.</strong> FASEB J. 5: 12-20, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1991580/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1991580</a>] [<a href="https://doi.org/10.1096/fasebj.5.1.1991580" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1991580">McKusick, 1991</a>), chromosome 19 appears to be unusually densely populated with genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6961457+1991580+1301997" 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>As part of the mapping of multiple probes on chromosome 19 by fluorescence in situ hybridization, <a href="#29" class="mim-tip-reference" title="Trask, B., Fertitta, A., Christensen, M., Youngblom, J., Bergmann, A., Copeland, A., de Jong, P., Mohrenweiser, H., Olsen, A., Carrano, A., Tynan, K. <strong>Fluorescence in situ hybridization mapping of human chromosome 19: cytogenetic band location of 540 cosmids and 70 genes or DNA markers.</strong> Genomics 15: 133-145, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8432525/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8432525</a>] [<a href="https://doi.org/10.1006/geno.1993.1021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8432525">Trask et al. (1993)</a> mapped the ERCC1 gene to 19q13.2-q13.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8432525" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient with cerebrooculofacioskeletal syndrome (COFS4; <a href="/entry/610758">610758</a>), <a href="#10" class="mim-tip-reference" title="Jaspers, N. G. J., Raams, A., Silengo, M. C., Wijgers, N., Niedernhofer, L. J., Robinson, A. R., Giglia-Mari, G., Hoogstraten, D., Kleijer, W. J., Hoeijmakers, J. H. J., Vermeulen, W. <strong>First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.</strong> Am. J. Hum. Genet. 80: 457-466, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17273966/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17273966</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17273966[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/10.1086/512486" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17273966">Jaspers et al. (2007)</a> found compound heterozygous mutations in the ERCC1 gene (Q158X, <a href="#0001">126380.0001</a>; F231L, <a href="#0002">126380.0002</a>). The patient reported by <a href="#10" class="mim-tip-reference" title="Jaspers, N. G. J., Raams, A., Silengo, M. C., Wijgers, N., Niedernhofer, L. J., Robinson, A. R., Giglia-Mari, G., Hoogstraten, D., Kleijer, W. J., Hoeijmakers, J. H. J., Vermeulen, W. <strong>First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.</strong> Am. J. Hum. Genet. 80: 457-466, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17273966/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17273966</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17273966[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/10.1086/512486" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17273966">Jaspers et al. (2007)</a> displayed relatively mild impairment of NER, similar to that seen in XPF cases, but had very severe clinical manifestations, including pre- and postnatal developmental failure and death in early infancy. Patient cells showed moderate hypersensitivity to ultraviolet rays and mitomycin C. This discovery represented a novel complementation group of patients with defective NER. Furthermore, the clinical severity, coupled with a relatively mild repair defect, suggested novel functions for ERCC1. Although ERCC1 was the first mammalian repair gene to be cloned (<a href="#35" class="mim-tip-reference" title="Westerveld, A., Hoeijmakers, J. H. J., van Duin, M., de Wit, J., Odijk, H., Pastink, A., Wood, R. D., Bootsma, D. <strong>Molecular cloning of a human DNA repair gene.</strong> Nature 310: 425-429, 1984.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6462228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6462228</a>] [<a href="https://doi.org/10.1038/310425a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6462228">Westerveld et al., 1984</a>) and targeted in mice (<a href="#18" class="mim-tip-reference" title="McWhir, J., Selfridge, J., Harrison, D. J., Squires, S., Melton, D. W. <strong>Mice with DNA repair gene (ERCC-1) deficiency have elevated levels of p53, liver nuclear abnormalities and die before weaning.</strong> Nature Genet. 5: 217-224, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8275084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8275084</a>] [<a href="https://doi.org/10.1038/ng1193-217" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8275084">McWhir et al., 1993</a>), no case of an ERCC1 defect was identified until the report of <a href="#10" class="mim-tip-reference" title="Jaspers, N. G. J., Raams, A., Silengo, M. C., Wijgers, N., Niedernhofer, L. J., Robinson, A. R., Giglia-Mari, G., Hoogstraten, D., Kleijer, W. J., Hoeijmakers, J. H. J., Vermeulen, W. <strong>First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.</strong> Am. J. Hum. Genet. 80: 457-466, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17273966/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17273966</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17273966[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/10.1086/512486" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17273966">Jaspers et al. (2007)</a>, despite exhaustive screens in photosensitive patients for 3 decades. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8275084+6462228+17273966" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a patient with severe growth and skeletal abnormalities resulting in early death and associated with defective NER, <a href="#11" class="mim-tip-reference" title="Kashiyama, K., Nakazawa, Y., Pilz, D. T., Guo, C., Shimada, M., Sasaki, K., Fawcett, H., Wing, J. F., Lewin, S. O., Carr, L., Li, T.-S., Yoshiura, K., and 14 others. <strong>Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.</strong> Am. J. Hum. Genet. 92: 807-819, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23623389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23623389</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23623389[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/10.1016/j.ajhg.2013.04.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23623389">Kashiyama et al. (2013)</a> identified homozygosity for the F231L mutation in the ERCC1 gene. Patient cells showed decreased expression of both ERCC1 and ERCC4 (<a href="/entry/133520">133520</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23623389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Imoto, K., Boyle, J., Oh, K., Khan, S., Ueda, T., Nadem, C., Slor, H., Orgal, S., Gadoth, N., Busch, D., Jaspers, N. G., Tamura, D., DiGiovanna, J. J., Kraemer, K. H. <strong>Patients with defects in the interacting nucleotide excision repair proteins ERCC1 or XPF show xeroderma pigmentosum with late onset severe neurological degeneration. (Abstract)</strong> J. Invest. Derm. 127: S92 only, 2007."None>Imoto et al. (2007)</a> reported a woman (XP202DC) with xeroderma pigmentosum and neurologic features who was compound heterozygous for 2 mutations in the ERCC1 gene (K226X and IVS-26G-A). In addition to sun sensitivity, she developed progressive neurodegeneration with dementia and generalized brain atrophy at age 15 and died at age 37 years. The phenotype was similar to that reported in patients with XPF (<a href="/entry/278760">278760</a>) due to mutations in the ERCC4 gene (<a href="/entry/133520">133520</a>). ERCC1 and ERCC4 form a complex with endonuclease activity during a late stage of nucleotide excision repair of DNA.</p>
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<p><a href="#18" class="mim-tip-reference" title="McWhir, J., Selfridge, J., Harrison, D. J., Squires, S., Melton, D. W. <strong>Mice with DNA repair gene (ERCC-1) deficiency have elevated levels of p53, liver nuclear abnormalities and die before weaning.</strong> Nature Genet. 5: 217-224, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8275084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8275084</a>] [<a href="https://doi.org/10.1038/ng1193-217" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8275084">McWhir et al. (1993)</a> produced mice with defective DNA by targeting the ERCC1 gene in an embryonic stem cell line. Homozygous mutant mice were runted at birth and died before weaning with liver failure. Examination of organs showed polyploidy in perinatal liver, progressing to severe aneuploidy by 3 weeks of age. Elevated levels of p53 (<a href="/entry/191170">191170</a>) were detected in liver, brain and kidney, supporting the hypothesized role for p53 as a monitor of DNA damage. As pointed out by <a href="#3" class="mim-tip-reference" title="Cleaver, J. E. <strong>It was a very good year for DNA repair.</strong> Cell 76: 1-4, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8287470/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8287470</a>] [<a href="https://doi.org/10.1016/0092-8674(94)90165-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8287470">Cleaver (1994)</a>, the ERCC1 gene had not been found in association with any specific human disease and was only indirectly presumed to be essential. The findings of <a href="#18" class="mim-tip-reference" title="McWhir, J., Selfridge, J., Harrison, D. J., Squires, S., Melton, D. W. <strong>Mice with DNA repair gene (ERCC-1) deficiency have elevated levels of p53, liver nuclear abnormalities and die before weaning.</strong> Nature Genet. 5: 217-224, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8275084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8275084</a>] [<a href="https://doi.org/10.1038/ng1193-217" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8275084">McWhir et al. (1993)</a> may suggest pathologic implications of mutations in this gene in the human. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8275084+8287470" 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="mim-changed mim-change"><p><a href="#19" class="mim-tip-reference" title="Niedernhofer, L. J., Garinis, G. A., Raams, A., Lalai, A. S., Robinson, A. R., Appeldoorn, E., Odijk, H., Oostendorp, R., Ahmad, A., van Leeuwen, W., Theil, A. F., Vermeulen, W., van der Horst, G. T. J., Meinecke, P., Kleijer, W. J., Vijg, J., Jaspers, N. G. J., Hoeijmakers, J. H. J. <strong>A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis.</strong> Nature 444: 1038-1043, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17183314/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17183314</a>] [<a href="https://doi.org/10.1038/nature05456" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17183314">Niedernhofer et al. (2006)</a> studied Ercc1-deficient mice. Embryonic and early postnatal development was mildly retarded, but growth arrests dramatically in the second week, typically culminating in death by 4 weeks. Ercc1-null mice showed skin, liver, and bone marrow abnormalities similar to those seen in normal aging. <a href="#19" class="mim-tip-reference" title="Niedernhofer, L. J., Garinis, G. A., Raams, A., Lalai, A. S., Robinson, A. R., Appeldoorn, E., Odijk, H., Oostendorp, R., Ahmad, A., van Leeuwen, W., Theil, A. F., Vermeulen, W., van der Horst, G. T. J., Meinecke, P., Kleijer, W. J., Vijg, J., Jaspers, N. G. J., Hoeijmakers, J. H. J. <strong>A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis.</strong> Nature 444: 1038-1043, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17183314/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17183314</a>] [<a href="https://doi.org/10.1038/nature05456" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17183314">Niedernhofer et al. (2006)</a> also identified dystonia and progressive ataxia, renal insufficiency, sarcopenia, kyphosis, and, at the cellular level, premature replicative senescence and sensitivity to oxidative stress--all changes associated with advanced age. The authors noted a striking correlation between the phenotype of Ercc1-null mice and that of human XFE progeroid syndrome (<a href="/entry/610965">610965</a>). Furthermore, ERCC4 (<a href="/entry/133520">133520</a>), which is defective in XFE progeroid syndrome, is undetectable in Ercc1-null mouse tissue, indicating destabilization of the ERCC4/ERCC1 complex. <a href="#19" class="mim-tip-reference" title="Niedernhofer, L. J., Garinis, G. A., Raams, A., Lalai, A. S., Robinson, A. R., Appeldoorn, E., Odijk, H., Oostendorp, R., Ahmad, A., van Leeuwen, W., Theil, A. F., Vermeulen, W., van der Horst, G. T. J., Meinecke, P., Kleijer, W. J., Vijg, J., Jaspers, N. G. J., Hoeijmakers, J. H. J. <strong>A new progeroid syndrome reveals that genotoxic stress suppresses the somatotroph axis.</strong> Nature 444: 1038-1043, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17183314/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17183314</a>] [<a href="https://doi.org/10.1038/nature05456" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17183314">Niedernhofer et al. (2006)</a> found that these and other changes correlated with those seen in aged mice and developed a model connecting DNA damage, the growth hormone axis, and aging. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17183314" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p></div>
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<p><a href="#33" 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 life spans of Ercc1 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 life span of mice fed ad libitum. Ercc5 (<a href="/entry/133530">133530</a>) -/- 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="#33" 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>In an infant (165TOR) with a severe disorder compatible with a diagnosis of cerebrooculofacioskeletal syndrome (COFS4; <a href="/entry/610758">610758</a>), <a href="#10" class="mim-tip-reference" title="Jaspers, N. G. J., Raams, A., Silengo, M. C., Wijgers, N., Niedernhofer, L. J., Robinson, A. R., Giglia-Mari, G., Hoogstraten, D., Kleijer, W. J., Hoeijmakers, J. H. J., Vermeulen, W. <strong>First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.</strong> Am. J. Hum. Genet. 80: 457-466, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17273966/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17273966</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17273966[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/10.1086/512486" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17273966">Jaspers et al. (2007)</a> found compound heterozygosity for 2 mutations in the ERCC1 gene: a C-to-T transition predicted to convert codon gln158 into an amber translational stop signal (CAG to TAG; Q158X), inherited from the mother, and a C-to-G transversion predicted to change phe231 to leucine (F231L; <a href="#0002">126380.0002</a>), inherited from the father. The phe231 residue lies within the XPF binding domain of ERCC1 and is fully conserved among mammals and in X. laevis. The allele derived from the mother encoded a truncated polypeptide that lacked the entire C-terminal domain, which is essential for interaction with XPF. Heterodimerization of ERCC1-XPF is required for stability of the complex and for its endonuclease activity. Therefore, the Q158X allele was expected to be functionally null. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17273966" 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>For discussion of the phe231-to-leu (F231L) mutation in the ERCC1 gene that was found in compound heterozygous state in a patient with cerebrooculofacioskeletal syndrome (COFS4; <a href="/entry/610758">610758</a>) by <a href="#10" class="mim-tip-reference" title="Jaspers, N. G. J., Raams, A., Silengo, M. C., Wijgers, N., Niedernhofer, L. J., Robinson, A. R., Giglia-Mari, G., Hoogstraten, D., Kleijer, W. J., Hoeijmakers, J. H. J., Vermeulen, W. <strong>First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.</strong> Am. J. Hum. Genet. 80: 457-466, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17273966/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17273966</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17273966[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/10.1086/512486" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17273966">Jaspers et al. (2007)</a>, see <a href="#0001">126380.0001</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17273966" 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="mim-changed mim-change"><p>In a girl (CS20LO), born of unrelated parents, with facial and skeletal abnormalities (COFS4), <a href="#11" class="mim-tip-reference" title="Kashiyama, K., Nakazawa, Y., Pilz, D. T., Guo, C., Shimada, M., Sasaki, K., Fawcett, H., Wing, J. F., Lewin, S. O., Carr, L., Li, T.-S., Yoshiura, K., and 14 others. <strong>Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.</strong> Am. J. Hum. Genet. 92: 807-819, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23623389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23623389</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23623389[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/10.1016/j.ajhg.2013.04.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23623389">Kashiyama et al. (2013)</a> identified a homozygous c.693C-G transversion in exon 7 of the ERCC1 gene, resulting in a phe231-to-leu substitution in the C-terminal XPF-interacting helix-hairpin-helix domain. The patient had microcephaly, micrognathia, deep-set eyes, multiple contractures, nystagmus, and possible polymicrogyria. She was diagnosed as having Cockayne syndrome on the basis of impaired RNA synthesis after UV radiation, indicating a defect in TC-NER. Patient cells also showed a decrease in unscheduled DNA synthesis, indicating a defect in global genome NER (GG-NER). In vitro cellular expression studies showed that the F231L mutation did not alter binding to ERCC4 (<a href="/entry/133520">133520</a>) or to TFIIH (see <a href="/entry/189972">189972</a>) and that overexpression of the mutant protein was able to restore NER activity in the patient's cells. However, patient cells showed very low expression of the mutant allele (50-fold less than control), suggesting that the ERCC1-null phenotype in this patient was due to attenuated mRNA expression. <a href="#11" class="mim-tip-reference" title="Kashiyama, K., Nakazawa, Y., Pilz, D. T., Guo, C., Shimada, M., Sasaki, K., Fawcett, H., Wing, J. F., Lewin, S. O., Carr, L., Li, T.-S., Yoshiura, K., and 14 others. <strong>Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.</strong> Am. J. Hum. Genet. 92: 807-819, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23623389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23623389</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23623389[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/10.1016/j.ajhg.2013.04.007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23623389">Kashiyama et al. (2013)</a> noted that the patient reported by <a href="#10" class="mim-tip-reference" title="Jaspers, N. G. J., Raams, A., Silengo, M. C., Wijgers, N., Niedernhofer, L. J., Robinson, A. R., Giglia-Mari, G., Hoogstraten, D., Kleijer, W. J., Hoeijmakers, J. H. J., Vermeulen, W. <strong>First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.</strong> Am. J. Hum. Genet. 80: 457-466, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17273966/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17273966</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17273966[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/10.1086/512486" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17273966">Jaspers et al. (2007)</a> had clinical features that overlapped with Cockayne syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=17273966+23623389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p></div>
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<a href="#Hoeijmakers1987" class="mim-tip-reference" title="Hoeijmakers, J. H. J. <strong>Characterization of genes and proteins involved in excision repair of human cells.</strong> J. Cell Sci. Suppl. 6: 111-125, 1987.">Hoeijmakers (1987)</a>; <a href="#Kondo1989" class="mim-tip-reference" title="Kondo, S., Mamada, A., Miyamoto, C., Keong, C.-H., Satoh, Y., Fujiwara, Y. <strong>Late onset of skin cancers in 2 xeroderma pigmentosum group F siblings and a review of 30 Japanese xeroderma pigmentosum patients in groups D, E, and F.</strong> Photodermatology 6: 89-95, 1989.">Kondo et al. (1989)</a>; <a href="#Sijbers1998" class="mim-tip-reference" title="Sijbers, A. M., van Voorst Vader, P. C., Snoek, J. W., Raams, A., Jaspers, N. G. J., Kleijer, W. J. <strong>Homozygous R788W point mutation in the XPF gene of a patient with xeroderma pigmentosum and late-onset neurologic disease.</strong> J. Invest. Derm. 110: 832-836, 1998.">Sijbers et al. (1998)</a>; <a href="#van1988" class="mim-tip-reference" title="van Duin, M., Janssen, J. H., de Wit, J., Hoeijmakers, J. H. J., Thompson, L. H., Bootsma, D., Westerveld, A. <strong>Transfection of the cloned human excision repair gene ERCC-1 to UV-sensitive CHO mutants only corrects the repair defect in complementation group-2 mutants.</strong> Mutat. Res. 193: 123-130, 1988.">van
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21612988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21612988</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21612988" 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.dnarep.2011.04.026" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2821019/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2821019</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2821019" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Jaspers, N. G. J., Raams, A., Silengo, M. C., Wijgers, N., Niedernhofer, L. J., Robinson, A. R., Giglia-Mari, G., Hoogstraten, D., Kleijer, W. J., Hoeijmakers, J. H. J., Vermeulen, W.
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<strong>First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.</strong>
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Am. J. Hum. Genet. 80: 457-466, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17273966/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17273966</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17273966[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=17273966" 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/10.1086/512486" target="_blank">Full Text</a>]
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Kashiyama, K., Nakazawa, Y., Pilz, D. T., Guo, C., Shimada, M., Sasaki, K., Fawcett, H., Wing, J. F., Lewin, S. O., Carr, L., Li, T.-S., Yoshiura, K., and 14 others.
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<strong>Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.</strong>
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Am. J. Hum. Genet. 92: 807-819, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23623389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23623389</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23623389[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=23623389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Kondo, S., Mamada, A., Miyamoto, C., Keong, C.-H., Satoh, Y., Fujiwara, Y.
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<strong>Late onset of skin cancers in 2 xeroderma pigmentosum group F siblings and a review of 30 Japanese xeroderma pigmentosum patients in groups D, E, and F.</strong>
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Photodermatology 6: 89-95, 1989.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8432525/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8432525</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8432525" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1993.1021" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="30" class="mim-anchor"></a>
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<a id="van Duin1986" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van Duin, M., de Wit, J., Odijk, H., Westerveld, A., Yasui, A., Koken, M. H. M., Hoeijmakers, J. H. J., Bootsma, D.
|
|
<strong>Molecular characterization of the human excision repair gene ERCC-1: cDNA cloning and amino acid homology with the yeast DNA repair gene RAD10.</strong>
|
|
Cell 44: 913-923, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2420469/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2420469</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2420469" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0092-8674(86)90014-0" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="31" class="mim-anchor"></a>
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<a id="van Duin1988" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van Duin, M., Janssen, J. H., de Wit, J., Hoeijmakers, J. H. J., Thompson, L. H., Bootsma, D., Westerveld, A.
|
|
<strong>Transfection of the cloned human excision repair gene ERCC-1 to UV-sensitive CHO mutants only corrects the repair defect in complementation group-2 mutants.</strong>
|
|
Mutat. Res. 193: 123-130, 1988.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3347205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3347205</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3347205" 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/10.1016/0167-8817(88)90042-9" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="32" class="mim-anchor"></a>
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<a id="van Duin1987" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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van Duin, M., Koken, M. H. M., van den Tol, J., ten Dijke, P., Odijk, H., Westerveld, A., Bootsma, D., Hoeijmakers, J. H. J.
|
|
<strong>Genomic characterization of the human DNA excision repair gene ERCC-1.</strong>
|
|
Nucleic Acids Res. 15: 9195-9213, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3684592/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3684592</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3684592" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/nar/15.22.9195" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="33" class="mim-anchor"></a>
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<a id="Vermeij2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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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.
|
|
<strong>Restricted diet delays accelerated ageing and genomic stress in DNA-repair-deficient mice.</strong>
|
|
Nature 537: 427-431, 2016.
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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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</p>
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<li>
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<a id="34" class="mim-anchor"></a>
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<a id="Volker2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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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.
|
|
<strong>Sequential assembly of the nucleotide excision repair factors in vivo.</strong>
|
|
Molec. Cell 8: 213-224, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11511374/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11511374</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11511374" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s1097-2765(01)00281-7" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="35" class="mim-anchor"></a>
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<a id="Westerveld1984" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Westerveld, A., Hoeijmakers, J. H. J., van Duin, M., de Wit, J., Odijk, H., Pastink, A., Wood, R. D., Bootsma, D.
|
|
<strong>Molecular cloning of a human DNA repair gene.</strong>
|
|
Nature 310: 425-429, 1984.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6462228/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6462228</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6462228" 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/10.1038/310425a0" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Bao Lige - updated : 05/20/2019
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
|
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 09/28/2016<br>Cassandra L. Kniffin - updated : 6/20/2013<br>Patricia A. Hartz - updated : 6/29/2009<br>Ada Hamosh - updated : 4/20/2007<br>Victor A. McKusick - updated : 2/8/2007<br>Stylianos E. Antonarakis - updated : 8/3/2001<br>Ada Hamosh - updated : 5/6/1999<br>Ada Hamosh - updated : 5/5/1999<br>Jennifer P. Macke - updated : 6/6/1997
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 02/28/2025
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/27/2025<br>carol : 06/13/2024<br>carol : 09/17/2022<br>carol : 09/16/2022<br>carol : 09/06/2022<br>mgross : 05/20/2019<br>alopez : 09/28/2016<br>mcolton : 06/03/2015<br>carol : 2/9/2015<br>mcolton : 2/6/2015<br>mcolton : 2/5/2015<br>alopez : 7/30/2013<br>alopez : 7/3/2013<br>ckniffin : 6/20/2013<br>carol : 1/26/2010<br>carol : 1/12/2010<br>alopez : 7/1/2009<br>terry : 6/29/2009<br>terry : 9/19/2007<br>carol : 7/12/2007<br>alopez : 4/24/2007<br>terry : 4/20/2007<br>alopez : 2/12/2007<br>terry : 2/8/2007<br>alopez : 9/30/2003<br>mgross : 8/3/2001<br>alopez : 5/7/1999<br>alopez : 5/6/1999<br>terry : 5/5/1999<br>terry : 5/5/1999<br>psherman : 5/8/1998<br>mark : 11/11/1997<br>alopez : 9/10/1997<br>alopez : 9/8/1997<br>terry : 7/28/1997<br>terry : 3/21/1997<br>carol : 11/17/1995<br>mimadm : 4/18/1994<br>carol : 12/9/1993<br>carol : 2/11/1993<br>carol : 6/18/1992<br>carol : 5/18/1992
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 126380
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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 1, ENDONUCLEASE NONCATALYTIC SUBUNIT; ERCC1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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EXCISION REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 1<br />
|
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DNA REPAIR DEFECT UV-20 OF CHINESE HAMSTER OVARY CELLS, COMPLEMENTATION OF; UV20
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: ERCC1</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
|
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<em>
|
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Cytogenetic location: 19q13.32
|
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|
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Genomic coordinates <span class="small">(GRCh38)</span> : 19:45,407,334-45,451,547 </span>
|
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</em>
|
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</strong>
|
|
<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</h4>
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<div>
|
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<table class="table table-bordered table-condensed small mim-table-padding">
|
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<thead>
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<tr class="active">
|
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<th>
|
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
|
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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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|
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
|
19q13.32
|
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</span>
|
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</td>
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|
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<td>
|
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<span class="mim-font">
|
|
Cerebrooculofacioskeletal syndrome 4
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
610758
|
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>TEXT</strong>
|
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</span>
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</h4>
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<div>
|
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<h4>
|
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<span class="mim-font">
|
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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 ERCC1 gene encodes a protein involved in nucleotide excision repair (NER) and interstrand crosslink (ICL) repair of DNA. ERCC1 interacts with ERCC4 (133520) to form an endonuclease that excises the DNA for subsequent repair. ERCC1 is needed for stabilizing and enhancing ERCC4 activity (summary by Gregg et al., 2011 and Kashiyama et al., 2013). </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>Following DNA-mediated gene transfer into Chinese hamster ovary (CHO) mutant cells that, like xeroderma pigmentosum (see 278700) cells, are sensitive to a variety of DNA damaging agents and are defective in the initial incision step of DNA repair, Rubin et al. (1983) identified the human DNA repair gene ERCC1. The resulting transformants exhibited normal resistance to DNA damaging agents, and independent transformants demonstrated a common set of human DNA sequences associated with a human DNA repair gene. Thus, both direct biologic and molecular evidence for DNA-mediated transfer of a human DNA repair gene into repair-deficient hamster mutants was provided. </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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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>Li et al. (1994) demonstrated that the repair protein XPA (611153) is a factor that associates with ERCC1. A possible function of XPA, suggested by their results, is the loading and possible orientation of an incision complex containing ERCC1 and other repair factors to the site of DNA damage. Park and Sancar (1994) presented the results of studies leading them to conclude that XPA, ERCC1, and ERCC4 (133520) proteins form a ternary complex that participates in both damage recognition and incision activities. </p><p>Sijbers et al. (1996) performed mutation analysis on ERCC1. They found that the poorly conserved N-terminal 91 amino acids are not essential for its repair functions, whereas the C terminus is essential for enzymatic activity and is presumed to be a structure-specific endonuclease. Mutations in the central region gave rise to unstable proteins, leading the authors to suggest that this region is involved in protein-protein interactions. Sijbers et al. (1996) stated that ERCC1 is involved in both UV cross-link repair and nucleotide excision repair (NER) and presented evidence that cross-link repair requires lower amounts of ERCC1 than does NER, which may explain why group F xeroderma pigmentosum (XPF; 278760) patients present a deficiency in NER rather than in cross-link repair. </p><p>To study the nuclear organization and dynamics of nucleotide excision repair, Houtsmuller et al. (1999) tagged the ERCC1 subunit of the ERCC1/XPF endonuclease with green fluorescent protein and monitored its mobility in living Chinese hamster ovary cells. In the absence of DNA damage, the complex moved freely through the nucleus, with a diffusion coefficient (15 +/- 5 square microns per second) consistent with its molecular size. Ultraviolet light-induced DNA damage caused a transient dose-dependent immobilization of ERCC1/XPF, likely due to engagement of the complex in a single repair event. After 4 minutes, the complex regained mobility. These results suggested that nucleotide excision repair operates by assembly of individual nucleotide excision repair factors at sites of DNA damage rather than by preassembly of holocomplexes, and that ERCC1/XPF participates in repair of DNA damage in a distributive fashion rather than by processive scanning of large genome segments. </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 (600062) appeared to be essential for the recruitment of all subsequent NER factors in the preincision complex, including transcription repair factor TFIIH (see 189972). Volker et al. (2001) found that XPA associates relatively late, is required for anchoring of ERCC1-XPF, and may be essential for activation of the endonuclease activity of XPG (133530). These findings identified XPC as the earliest known NER factor in the reaction mechanism, gave insight into the order of subsequent NER components, provided evidence for a dual role of XPA, and supported a concept of sequential assembly of repair proteins at the site of damage rather than a preassembled repairosome. </p><p>Repair of double-strand breaks in DNA via the Fanconi anemia (FA; 227650) pathway requires the monoubiquitination of FANCD2 (227646), leading to the accumulation of ubiquitinated FANCD2 at sites of DNA damage. Using normal human fibroblasts depleted of ERCC1 via small interfering RNA and fibroblasts from FA patients, McCabe et al. (2008) showed that ERCC1 was required for both monoubiquitination of FANCD2 and the accumulation of ubiquitinated FANCD2 at sites of DNA damage. ERCC1 was required for FANCD2 foci formation following DNA crosslinking, which can be repaired following the formation of a double-strand break, and on stalled replication forks, which include double-strand breaks. McCabe et al. (2008) concluded that ERCC1 is not required for the formation of double-strand breaks but is required for the activation of FANCD2 for their repair. </p><p>By coimmunoprecipitation and yeast 2-hybrid analyses, Perez-Oliva et al. (2015) found that the N-terminal 61 amino acids of human USP45 (618439) interacted with ERCC1. USP45 deubiquitylated ERCC1 both in vitro and in vivo, and association of USP45 with ERCC1 was required for ERCC1 deubiquitylation. USP45 promoted survival of U2OS osteosarcoma cells exposed to DNA-damaging agents and induced DNA damage responses controlled by the ERCC1-XPF endonuclease. USP45 exerted its effects not by stabilizing ERCC1 expression, but by regulating recruitment of ERCC1 to DNA damage sites. USP45 localized to DNA lesions resulting from DNA-damaging agents and controlled repair. Live-cell fluorescence analysis revealed that recruitment of USP45 to damage sites was rapid, transient, and independent of ERCC1-XPF. </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>The ERCC1 gene contains 10 exons spread over approximately 15 kb (van Duin et al., 1987). </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>Siciliano et al. (1985) assigned 2 genes that complement separate DNA repair mutations in Chinese hamster ovary (CHO) cells to human chromosome 19. One of them complemented a CHO DNA repair deficiency mutant called UV20; the human locus was called ERCC1 (Thompson et al., 1985). The other CHO repair mutant, called EM9, differed in respect to the agents to which it was sensitive and had greatly increased sister chromatid exchanges (Thompson et al., 1982) as in Bloom syndrome (210900); the human locus was called ERCC2 (126340). Human chromosome 19 is thought to be homologous to hamster 9--both have GPI (172400) and PEPD (613230)--and in CHO cells chromosome 9 is hemizygous. The findings probably indicate that the 2 DNA repair genes are syntenic in the hamster also. </p><p>De Wit et al. (1985) also mapped to chromosome 19 a human DNA repair gene that complemented the defect in a repair-defective CHO cell line. ERCC1 was so named for 'excision repair complementing defective repair in Chinese hamster.' De Wit et al. (1985) concluded that this is the same gene as that found by Rubin et al. (1985). </p><p>By somatic cell hybridization, Brook et al. (1985) assigned the ERCC1 gene to chromosome 19q13.3-q13.2.</p><p>ERCC1 has significant amino acid sequence homology with the yeast excision repair protein RAD10 (van Duin et al., 1986). Another gene involved in DNA repair, XRCC1 (194360), is located in the same region of chromosome 19 (Carrano, 1988). In the course of characterizing ERCC1, Hoeijmakers et al. (1989) found that its 3-prime terminus overlapped the 3-prime end of another gene, designated ASE1 (antisense ERCC1; 107325). This exceptional type of gene overlap was conserved in the mouse and even in the yeast ERCC1 homolog, RAD10, suggesting an important biologic function. </p><p>With automated fluorescence-based sequences, Martin-Gallardo et al. (1992) sequenced a total of 116,118 bp derived from 3 cosmids spanning the ERCC1 locus. The assembled sequence analyzed by polymerase chain reaction (PCR) amplification and computer methods totaled 105,831 bp and contained, in addition to the ERCC1 gene, an FOSB protooncogene (164772), a gene encoding a protein phosphatase, and 2 genes of unknown function. The 19q13.3 light-band region had a high average density of 1.4 Alu repeats per kilobase. Martin-Gallardo et al. (1992) estimated that the light bands of the human karyotype could contain as many as 75,000 genes and 1.5 million Alu repeats. By several lines of evidence (Langlois et al., 1982; McKusick, 1991), chromosome 19 appears to be unusually densely populated with genes. </p><p>As part of the mapping of multiple probes on chromosome 19 by fluorescence in situ hybridization, Trask et al. (1993) mapped the ERCC1 gene to 19q13.2-q13.3. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a patient with cerebrooculofacioskeletal syndrome (COFS4; 610758), Jaspers et al. (2007) found compound heterozygous mutations in the ERCC1 gene (Q158X, 126380.0001; F231L, 126380.0002). The patient reported by Jaspers et al. (2007) displayed relatively mild impairment of NER, similar to that seen in XPF cases, but had very severe clinical manifestations, including pre- and postnatal developmental failure and death in early infancy. Patient cells showed moderate hypersensitivity to ultraviolet rays and mitomycin C. This discovery represented a novel complementation group of patients with defective NER. Furthermore, the clinical severity, coupled with a relatively mild repair defect, suggested novel functions for ERCC1. Although ERCC1 was the first mammalian repair gene to be cloned (Westerveld et al., 1984) and targeted in mice (McWhir et al., 1993), no case of an ERCC1 defect was identified until the report of Jaspers et al. (2007), despite exhaustive screens in photosensitive patients for 3 decades. </p><p>In a patient with severe growth and skeletal abnormalities resulting in early death and associated with defective NER, Kashiyama et al. (2013) identified homozygosity for the F231L mutation in the ERCC1 gene. Patient cells showed decreased expression of both ERCC1 and ERCC4 (133520). </p><p>Imoto et al. (2007) reported a woman (XP202DC) with xeroderma pigmentosum and neurologic features who was compound heterozygous for 2 mutations in the ERCC1 gene (K226X and IVS-26G-A). In addition to sun sensitivity, she developed progressive neurodegeneration with dementia and generalized brain atrophy at age 15 and died at age 37 years. The phenotype was similar to that reported in patients with XPF (278760) due to mutations in the ERCC4 gene (133520). ERCC1 and ERCC4 form a complex with endonuclease activity during a late stage of nucleotide excision repair of DNA.</p>
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</span>
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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>McWhir et al. (1993) produced mice with defective DNA by targeting the ERCC1 gene in an embryonic stem cell line. Homozygous mutant mice were runted at birth and died before weaning with liver failure. Examination of organs showed polyploidy in perinatal liver, progressing to severe aneuploidy by 3 weeks of age. Elevated levels of p53 (191170) were detected in liver, brain and kidney, supporting the hypothesized role for p53 as a monitor of DNA damage. As pointed out by Cleaver (1994), the ERCC1 gene had not been found in association with any specific human disease and was only indirectly presumed to be essential. The findings of McWhir et al. (1993) may suggest pathologic implications of mutations in this gene in the human. </p><p>Niedernhofer et al. (2006) studied Ercc1-deficient mice. Embryonic and early postnatal development was mildly retarded, but growth arrests dramatically in the second week, typically culminating in death by 4 weeks. Ercc1-null mice showed skin, liver, and bone marrow abnormalities similar to those seen in normal aging. Niedernhofer et al. (2006) also identified dystonia and progressive ataxia, renal insufficiency, sarcopenia, kyphosis, and, at the cellular level, premature replicative senescence and sensitivity to oxidative stress--all changes associated with advanced age. The authors noted a striking correlation between the phenotype of Ercc1-null mice and that of human XFE progeroid syndrome (610965). Furthermore, ERCC4 (133520), which is defective in XFE progeroid syndrome, is undetectable in Ercc1-null mouse tissue, indicating destabilization of the ERCC4/ERCC1 complex. Niedernhofer et al. (2006) found that these and other changes correlated with those seen in aged mice and developed a model connecting DNA damage, the growth hormone axis, and aging. </p><p>Vermeij et al. (2016) reported that a dietary restriction of 30% tripled the median and maximal remaining life spans of Ercc1 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 life span of mice fed ad libitum. Ercc5 (133530) -/- 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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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>2 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 CEREBROOCULOFACIOSKELETAL SYNDROME 4</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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ERCC1, GLN158TER
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<br />
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SNP: rs121913027,
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ClinVar: RCV000018265
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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 an infant (165TOR) with a severe disorder compatible with a diagnosis of cerebrooculofacioskeletal syndrome (COFS4; 610758), Jaspers et al. (2007) found compound heterozygosity for 2 mutations in the ERCC1 gene: a C-to-T transition predicted to convert codon gln158 into an amber translational stop signal (CAG to TAG; Q158X), inherited from the mother, and a C-to-G transversion predicted to change phe231 to leucine (F231L; 126380.0002), inherited from the father. The phe231 residue lies within the XPF binding domain of ERCC1 and is fully conserved among mammals and in X. laevis. The allele derived from the mother encoded a truncated polypeptide that lacked the entire C-terminal domain, which is essential for interaction with XPF. Heterodimerization of ERCC1-XPF is required for stability of the complex and for its endonuclease activity. Therefore, the Q158X allele was expected to be functionally null. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 CEREBROOCULOFACIOSKELETAL SYNDROME 4</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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ERCC1, PHE231LEU
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<br />
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SNP: rs121913028,
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gnomAD: rs121913028,
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ClinVar: RCV000018266, RCV000252117
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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 phe231-to-leu (F231L) mutation in the ERCC1 gene that was found in compound heterozygous state in a patient with cerebrooculofacioskeletal syndrome (COFS4; 610758) by Jaspers et al. (2007), see 126380.0001. </p>
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<div class="mim-changed mim-change"><p>In a girl (CS20LO), born of unrelated parents, with facial and skeletal abnormalities (COFS4), Kashiyama et al. (2013) identified a homozygous c.693C-G transversion in exon 7 of the ERCC1 gene, resulting in a phe231-to-leu substitution in the C-terminal XPF-interacting helix-hairpin-helix domain. The patient had microcephaly, micrognathia, deep-set eyes, multiple contractures, nystagmus, and possible polymicrogyria. She was diagnosed as having Cockayne syndrome on the basis of impaired RNA synthesis after UV radiation, indicating a defect in TC-NER. Patient cells also showed a decrease in unscheduled DNA synthesis, indicating a defect in global genome NER (GG-NER). In vitro cellular expression studies showed that the F231L mutation did not alter binding to ERCC4 (133520) or to TFIIH (see 189972) and that overexpression of the mutant protein was able to restore NER activity in the patient's cells. However, patient cells showed very low expression of the mutant allele (50-fold less than control), suggesting that the ERCC1-null phenotype in this patient was due to attenuated mRNA expression. Kashiyama et al. (2013) noted that the patient reported by Jaspers et al. (2007) had clinical features that overlapped with Cockayne syndrome. </p></div>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Hoeijmakers (1987); Kondo et al. (1989); Sijbers et al. (1998); van
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Duin et al. (1988)
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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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Brook, J. D., Shaw, D. J., Meredith, A. L., Worwood, M., Cowell, J., Scott, J., Knott, T. J., Litt, M., Bufton, L., Harper, P. S.
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<strong>A somatic cell hybrid panel for chromosome 19: localization of known genes and RFLP's and orientation of the linkage group. (Abstract)</strong>
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Cytogenet. Cell Genet. 40: 590-591, 1985.
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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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Carrano, A. V.
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<strong>Personal Communication.</strong>
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Livermore, Calif. 4/29/1988.
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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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Cleaver, J. E.
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<strong>It was a very good year for DNA repair.</strong>
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Cell 76: 1-4, 1994.
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[PubMed: 8287470]
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[Full Text: https://doi.org/10.1016/0092-8674(94)90165-1]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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de Wit, J., Hoeijmakers, J. H. J., van Duin, M., van Agthoven, T., Geurts van Kessel, A. H. M., Westerveld, A., Bootsma, D.
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<strong>Assignment of the DNA repair gene (ERCC1) to human chromosome 19. (Abstract)</strong>
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Cytogenet. Cell Genet. 40: 617 only, 1985.
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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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Gregg, S. Q., Robinson, A. R., Niedernhofer, L. J.
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<strong>Physiological consequences of defects in ERCC1-XPF DNA repair endonuclease.</strong>
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DNA Repair 10: 781-791, 2011.
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[PubMed: 21612988]
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[Full Text: https://doi.org/10.1016/j.dnarep.2011.04.026]
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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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Hoeijmakers, J. H. J., Weeda, G., Troelstra, C., van Duin, M., Wiegant, J., van der Ploeg, M., Geurts van Kessel, A. H. M., Westerveld, A., Bootsma, D.
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<strong>(Sub)chromosomal localization of the human excision repair genes ERCC-3 and -6, and identification of a gene (ASE-1) overlapping with ERCC-1. (Abstract)</strong>
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Cytogenet. Cell Genet. 51: 1014 only, 1989.
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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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Hoeijmakers, J. H. J.
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<strong>Characterization of genes and proteins involved in excision repair of human cells.</strong>
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J. Cell Sci. Suppl. 6: 111-125, 1987.
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[PubMed: 2821019]
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[Full Text: https://doi.org/10.1242/jcs.1984.supplement_6.7]
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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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Houtsmuller, A. B., Rademakers, S., Nigg, A. L., Hoogstraten, D., Hoeijmakers, J. H. J., Vermeulen, W.
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<strong>Action of DNA repair endonuclease ERCC1/XPF in living cells.</strong>
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Science 284: 958-961, 1999.
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[PubMed: 10320375]
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[Full Text: https://doi.org/10.1126/science.284.5416.958]
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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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Imoto, K., Boyle, J., Oh, K., Khan, S., Ueda, T., Nadem, C., Slor, H., Orgal, S., Gadoth, N., Busch, D., Jaspers, N. G., Tamura, D., DiGiovanna, J. J., Kraemer, K. H.
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<strong>Patients with defects in the interacting nucleotide excision repair proteins ERCC1 or XPF show xeroderma pigmentosum with late onset severe neurological degeneration. (Abstract)</strong>
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J. Invest. Derm. 127: S92 only, 2007.
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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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Jaspers, N. G. J., Raams, A., Silengo, M. C., Wijgers, N., Niedernhofer, L. J., Robinson, A. R., Giglia-Mari, G., Hoogstraten, D., Kleijer, W. J., Hoeijmakers, J. H. J., Vermeulen, W.
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<strong>First reported patient with human ERCC1 deficiency has cerebro-oculo-facio-skeletal syndrome with a mild defect in nucleotide excision repair and severe developmental failure.</strong>
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Am. J. Hum. Genet. 80: 457-466, 2007.
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[PubMed: 17273966]
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OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
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