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<title>
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Entry
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- *604124 - RETINOBLASTOMA-BINDING PROTEIN 8; RBBP8
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- OMIM
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<div id="mimSearch" class="hidden-print">
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<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
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<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
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<input type="hidden" id="mimSearchStart" name="start" value="1" />
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<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
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<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
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<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
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Advanced Search
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/entry"> OMIM </a>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
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<li style="margin-left: 0.5em;">
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<a href="/search/advanced/geneMap"> Gene Map </a>
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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">*604124</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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<li role="presentation">
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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="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#history">History</a>
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</li>
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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/604124">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</nav>
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</div>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
|
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000101773;t=ENST00000327155" 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=5932" 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=604124" 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=ENSG00000101773;t=ENST00000327155" 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_002894,NM_203291,NM_203292,XM_005258325,XM_006722519,XM_006722520,XM_006722521,XM_011526132,XM_047437727,XM_047437728,XM_047437729,XM_047437730,XM_047437731,XM_047437732" 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_002894" 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=604124" 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=04990&isoform_id=04990_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/RBBP8" 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/1730321,3452281,4506441,21040399,42718015,42718017,116242745,119621548,119621549,119621550,119621551,158258399,530413909,578832633,578832635,578832637,767999116,2217317421,2217317425,2217317428,2217317430,2217317432,2217317434,2462561151,2462561153,2462561155,2462561157,2462561159,2462561161,2462561163,2462561165,2462561167,2462561169" 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/Q99708" 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=5932" 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=ENSG00000101773;t=ENST00000327155" 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=RBBP8" 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=RBBP8" 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+5932" 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/RBBP8" 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:5932" 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/5932" 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=chr18&hgg_gene=ENST00000327155.10&hgg_start=22914139&hgg_end=23026486&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:9891" 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=604124[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=604124[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/ENSG00000101773" 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=RBBP8" 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=RBBP8" 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=RBBP8" 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=RBBP8&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/PA34255" 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:9891" 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://www.mousephenotype.org/data/genes/MGI:2442995" 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/RBBP8#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:2442995" 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/5932/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=5932" 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=WBGene00008082;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-050220-14" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
|
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<span class="small">
|
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
|
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</div>
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</a>
|
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</span>
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</span>
|
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</div>
|
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:5932" 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=RBBP8&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 771470001<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
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604124
|
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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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RETINOBLASTOMA-BINDING PROTEIN 8; RBBP8
|
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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">
|
|
RETINOBLASTOMA-INTERACTING AND MYOSIN-LIKE; RIM<br />
|
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CTBP-INTERACTING PROTEIN; CTIP
|
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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>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=RBBP8" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">RBBP8</a></em></strong>
|
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</span>
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</p>
|
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</div>
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<div>
|
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<a id="cytogeneticLocation" class="mim-anchor"></a>
|
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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/18/90?start=-3&limit=10&highlight=90">18q11.2</a>
|
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr18:22914139-23026486&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'})">18:22,914,139-23,026,486</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<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">
|
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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>
|
|
Phenotype
|
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<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=251255,606744" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
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</a>
|
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</span>
|
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</th>
|
|
<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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PheneGene Graphics <span class="caret"></span>
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<li><a href="/graph/linear/604124" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<li><a href="/graph/radial/604124" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p><a href="#2" class="mim-tip-reference" title="Fusco, C., Reymond, A., Zervos, A. S. <strong>Molecular cloning and characterization of a novel retinoblastoma-binding protein.</strong> Genomics 51: 351-358, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9721205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9721205</a>] [<a href="https://doi.org/10.1006/geno.1998.5368" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9721205">Fusco et al. (1998)</a> described the isolation and characterization of a cDNA encoding a polypeptide, named RIM (retinoblastoma-interacting myosin-like), that interacted in a yeast 2-hybrid system as well as in mammalian cells with the retinoblastoma (RB1; <a href="/entry/614041">614041</a>) protein. The RIM cDNA predicts an 897-amino acid polypeptide containing 2 leucine zipper motifs, an RB1-binding domain, and a CTBP (see <a href="/entry/602618">602618</a>)-binding domain. The RIM protein has weak homology to myosin family (see <a href="/entry/160720">160720</a>) proteins throughout its length. Northern blot analysis revealed a ubiquitously expressed 3.6-kb mRNA. Immunoprecipitation experiments revealed that a truncated RIM protein containing amino acids 142-897 interacts with RB1 in mammalian cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9721205" 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 understand the mechanism by which interaction between E1A and CTBP results in tumorigenesis-restraining activity, <a href="#13" class="mim-tip-reference" title="Schaeper, U., Subramanian, T., Lim, L., Boyd, J. M., Chinnadurai, G. <strong>Interaction between a cellular protein that binds to the C-terminal region of adenovirus E1A (CtBP) and a novel cellular protein is disrupted by E1A through a conserved PLDLS motif.</strong> J. Biol. Chem. 273: 8549-8552, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9535825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9535825</a>] [<a href="https://doi.org/10.1074/jbc.273.15.8549" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9535825">Schaeper et al. (1998)</a> searched for cellular proteins that complex with CTBP. By a yeast 2-hybrid screen and RACE PCR, <a href="#13" class="mim-tip-reference" title="Schaeper, U., Subramanian, T., Lim, L., Boyd, J. M., Chinnadurai, G. <strong>Interaction between a cellular protein that binds to the C-terminal region of adenovirus E1A (CtBP) and a novel cellular protein is disrupted by E1A through a conserved PLDLS motif.</strong> J. Biol. Chem. 273: 8549-8552, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9535825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9535825</a>] [<a href="https://doi.org/10.1074/jbc.273.15.8549" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9535825">Schaeper et al. (1998)</a> identified and cloned a CTBP-interacting protein (CTIP). CTIP contains a 5-amino acid motif, the PLDLS motif, that is highly conserved among E1A proteins of all human adenoviruses. CTIP binds to CTBP via the PLDLS motif. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9535825" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Mapping</strong>
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<p><a href="#2" class="mim-tip-reference" title="Fusco, C., Reymond, A., Zervos, A. S. <strong>Molecular cloning and characterization of a novel retinoblastoma-binding protein.</strong> Genomics 51: 351-358, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9721205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9721205</a>] [<a href="https://doi.org/10.1006/geno.1998.5368" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9721205">Fusco et al. (1998)</a> mapped the RBBP8 gene to chromosome 18q11.2 by fluorescence in situ hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9721205" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>Gene Function</strong>
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<p><a href="#19" class="mim-tip-reference" title="Yu, X., Wu, L. C., Bowcock, A. M., Aronheim, A., Baer, R. <strong>The C-terminal (BRCT) domains of BRCA1 interact in vivo with CtIP, a protein implicated in the CtBP pathway of transcriptional repression.</strong> J. Biol. Chem. 273: 25388-25392, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9738006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9738006</a>] [<a href="https://doi.org/10.1074/jbc.273.39.25388" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9738006">Yu et al. (1998)</a> used the Sos recruitment system to screen for proteins that bind to the region of BRCA1 (<a href="/entry/113705">113705</a>) containing the BRCT domains. <a href="#19" class="mim-tip-reference" title="Yu, X., Wu, L. C., Bowcock, A. M., Aronheim, A., Baer, R. <strong>The C-terminal (BRCT) domains of BRCA1 interact in vivo with CtIP, a protein implicated in the CtBP pathway of transcriptional repression.</strong> J. Biol. Chem. 273: 25388-25392, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9738006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9738006</a>] [<a href="https://doi.org/10.1074/jbc.273.39.25388" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9738006">Yu et al. (1998)</a> found that the BRCT domains interact in vivo with CTIP, a protein identified on the basis of its association with the CTBP transcriptional corepressor (<a href="#13" class="mim-tip-reference" title="Schaeper, U., Subramanian, T., Lim, L., Boyd, J. M., Chinnadurai, G. <strong>Interaction between a cellular protein that binds to the C-terminal region of adenovirus E1A (CtBP) and a novel cellular protein is disrupted by E1A through a conserved PLDLS motif.</strong> J. Biol. Chem. 273: 8549-8552, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9535825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9535825</a>] [<a href="https://doi.org/10.1074/jbc.273.15.8549" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9535825">Schaeper et al., 1998</a>). <a href="#19" class="mim-tip-reference" title="Yu, X., Wu, L. C., Bowcock, A. M., Aronheim, A., Baer, R. <strong>The C-terminal (BRCT) domains of BRCA1 interact in vivo with CtIP, a protein implicated in the CtBP pathway of transcriptional repression.</strong> J. Biol. Chem. 273: 25388-25392, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9738006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9738006</a>] [<a href="https://doi.org/10.1074/jbc.273.39.25388" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9738006">Yu et al. (1998)</a> concluded that BRCA1 regulates gene expression, at least in part, by modulating CTBP-mediated transcriptional repression. Moreover, <a href="#19" class="mim-tip-reference" title="Yu, X., Wu, L. C., Bowcock, A. M., Aronheim, A., Baer, R. <strong>The C-terminal (BRCT) domains of BRCA1 interact in vivo with CtIP, a protein implicated in the CtBP pathway of transcriptional repression.</strong> J. Biol. Chem. 273: 25388-25392, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9738006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9738006</a>] [<a href="https://doi.org/10.1074/jbc.273.39.25388" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9738006">Yu et al. (1998)</a> found that the in vivo interaction between BRCA1 and CTIP is completely ablated by each of 3 independent tumor-associated mutations affecting the BRCT motifs of BRCA1. <a href="#19" class="mim-tip-reference" title="Yu, X., Wu, L. C., Bowcock, A. M., Aronheim, A., Baer, R. <strong>The C-terminal (BRCT) domains of BRCA1 interact in vivo with CtIP, a protein implicated in the CtBP pathway of transcriptional repression.</strong> J. Biol. Chem. 273: 25388-25392, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9738006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9738006</a>] [<a href="https://doi.org/10.1074/jbc.273.39.25388" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9738006">Yu et al. (1998)</a> concluded that BRCA1-CTIP interaction may be required for tumor suppression by BRCA1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9535825+9738006" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Wong, A. K. C., Ormonde, P. A., Pero, R., Chen, Y., Lian, L., Salada, G., Berry, S., Lawrence, Q., Dayananth, P., Ha, P., Tavtigian, S. V., Teng, D. H.-F., Bartel, P. L. <strong>Characterization of a carboxy-terminal BRCA1 interacting protein.</strong> Oncogene 17: 2279-2285, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9811458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9811458</a>] [<a href="https://doi.org/10.1038/sj.onc.1202150" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9811458">Wong et al. (1998)</a> used yeast 2-hybrid and in vitro biochemical assays to demonstrate that CTIP interacts specifically with the C-terminal segment of human BRCA1 from residues 1602 to 1863. A germline mutation that removes the last 11 amino acids from the C terminus of BRCA1 abolishes not only its transcriptional activation function, but also binding to CTIP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9811458" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Li, S., Ting, N. S. Y., Zheng, L., Chen, P.-L., Ziv, Y., Shiloh, Y., Lee, E. Y.-H. P., Lee, W.-H. <strong>Functional link of BRCA1 and ataxia telangiectasia gene product in DNA damage response.</strong> Nature 406: 210-215, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10910365/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10910365</a>] [<a href="https://doi.org/10.1038/35018134" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10910365">Li et al. (2000)</a> demonstrated that the BRCA1-associated protein CTIP becomes hyperphosphorylated and dissociated from BRCA1 upon ionizing radiation. This phosphorylation event requires the protein kinase ATM (see <a href="/entry/607585">607585</a>). ATM phosphorylates CTIP at serine residues 664 and 745, and mutation of these sites to alanine abrogates the dissociation of BRCA1 from CTIP, resulting in persistent repression of BRCA1-dependent induction of GADD45 (<a href="/entry/126335">126335</a>) upon ionizing radiation. <a href="#6" class="mim-tip-reference" title="Li, S., Ting, N. S. Y., Zheng, L., Chen, P.-L., Ziv, Y., Shiloh, Y., Lee, E. Y.-H. P., Lee, W.-H. <strong>Functional link of BRCA1 and ataxia telangiectasia gene product in DNA damage response.</strong> Nature 406: 210-215, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10910365/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10910365</a>] [<a href="https://doi.org/10.1038/35018134" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10910365">Li et al. (2000)</a> concluded that ATM, by phosphorylating CTIP upon ionizing radiation, may modulate BRCA1-mediated regulation of the DNA damage-response GADD45 gene, thus providing a potential link between ATM deficiency and breast cancer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10910365" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Yu, X., Baer, R. <strong>Nuclear localization and cell cycle-specific expression of CtIP, a protein that associates with the BRCA1 tumor suppressor.</strong> J. Biol. Chem. 275: 18541-18549, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10764811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10764811</a>] [<a href="https://doi.org/10.1074/jbc.M909494199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10764811">Yu and Baer (2000)</a> showed that CTIP, like its associated factors, is predominantly a nuclear protein. A subset of the endogenous pool of CTIP polypeptides exists in a protein complex that includes both BRCA1 and BRCA1-associated RING-domain protein (BARD1; <a href="/entry/601593">601593</a>). At the protein level, CTIP expression varies with cell cycle progression in a pattern identical to that of BRCA1. Thus, the steady-state levels of CTIP polypeptides, which remain low in resting cells and in G(1) cycling cells, increase dramatically as dividing cells traverse the G(1)/S boundary. In contrast to BRCA1, however, the G(1)/S induction of CTIP expression is mediated primarily by posttranscriptional mechanisms. <a href="#18" class="mim-tip-reference" title="Yu, X., Baer, R. <strong>Nuclear localization and cell cycle-specific expression of CtIP, a protein that associates with the BRCA1 tumor suppressor.</strong> J. Biol. Chem. 275: 18541-18549, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10764811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10764811</a>] [<a href="https://doi.org/10.1074/jbc.M909494199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10764811">Yu and Baer (2000)</a> found that the interaction between CTIP and BRCA1 is stable in the face of genotoxic stress elicited by treatment with UV light, adriamycin, or hydrogen peroxide. <a href="#18" class="mim-tip-reference" title="Yu, X., Baer, R. <strong>Nuclear localization and cell cycle-specific expression of CtIP, a protein that associates with the BRCA1 tumor suppressor.</strong> J. Biol. Chem. 275: 18541-18549, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10764811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10764811</a>] [<a href="https://doi.org/10.1074/jbc.M909494199" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10764811">Yu and Baer (2000)</a> suggested that CTIP can potentially modulate the functions ascribed to BRCA1 in transcriptional regulation, DNA repair, and/or cell cycle checkpoint control. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10764811" 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 search for novel target genes for microsatellite instability (MSI), <a href="#16" class="mim-tip-reference" title="Vilkki, S., Launonen, V., Karhu, A., Sistonen, P., Vastrik, I., Aaltonen, L. A. <strong>Screening for microsatellite instability target genes in colorectal cancers.</strong> J. Med. Genet. 39: 785-789, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12414815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12414815</a>] [<a href="https://doi.org/10.1136/jmg.39.11.785" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12414815">Vilkki et al. (2002)</a> studied mutation rates in 14 neutral intronic repeats and compared these rates with those observed in exonic coding repeats of potential MSI target genes. As expected, the length of an intronic mononucleotide repeat correlated positively with the number of slippages for both G/C and A/T repeats. Sequencing showed a significantly increased mutation rate in the exonic A9 repeat of CTIP (25/109 = 22.9%) as compared with similar intronic repeats (p less than or equal to 0.001). <a href="#16" class="mim-tip-reference" title="Vilkki, S., Launonen, V., Karhu, A., Sistonen, P., Vastrik, I., Aaltonen, L. A. <strong>Screening for microsatellite instability target genes in colorectal cancers.</strong> J. Med. Genet. 39: 785-789, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12414815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12414815</a>] [<a href="https://doi.org/10.1136/jmg.39.11.785" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12414815">Vilkki et al. (2002)</a> concluded that CTIP should be evaluated as an MSI target gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12414815" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using human and mouse expression plasmids in several protein interaction assays, <a href="#15" class="mim-tip-reference" title="Sum, E. Y. M., Peng, B., Yu, X., Chen, J., Byrne, J., Lindeman, G. J., Visvader, J. E. <strong>The LIM domain protein LMO4 interacts with the cofactor CtIP and the tumor suppressor BRCA1 and inhibits BRCA1 activity.</strong> J. Biol. Chem. 277: 7849-7856, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11751867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11751867</a>] [<a href="https://doi.org/10.1074/jbc.M110603200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11751867">Sum et al. (2002)</a> identified CTIP and BRCA1 as LMO4 (<a href="/entry/603129">603129</a>)-binding proteins. LDB1 (<a href="/entry/603451">603451</a>) also associated with a complex containing LMO4, CTIP, and BRCA1 in transfected human embryonic kidney cells. In functional assays, LMO4 repressed BRCA1-mediated transcriptional activation in both yeast and mammalian cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11751867" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Sartori, A. A., Lukas, C., Coates, J., Mistrik, M., Fu, S., Bartek, J., Baer, R., Lukas, J., Jackson, S. P. <strong>Human CtIP promotes DNA end resection.</strong> Nature 450: 509-514, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17965729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17965729</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17965729[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/nature06337" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17965729">Sartori et al. (2007)</a> demonstrated that the human CTIP protein confers resistance to double-strand break-inducing agents and is recruited to double-strand breaks exclusively in the S and G2 cell cycle phases. Moreover, <a href="#12" class="mim-tip-reference" title="Sartori, A. A., Lukas, C., Coates, J., Mistrik, M., Fu, S., Bartek, J., Baer, R., Lukas, J., Jackson, S. P. <strong>Human CtIP promotes DNA end resection.</strong> Nature 450: 509-514, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17965729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17965729</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17965729[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/nature06337" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17965729">Sartori et al. (2007)</a> revealed that CTIP is required for double-strand break resection, and thereby for recruitment of replication protein A (see RPA1, <a href="/entry/179835">179835</a>) and the protein kinase ATR (<a href="/entry/601215">601215</a>) to double-strand breaks, and for the ensuing ATR activation. Furthermore, <a href="#12" class="mim-tip-reference" title="Sartori, A. A., Lukas, C., Coates, J., Mistrik, M., Fu, S., Bartek, J., Baer, R., Lukas, J., Jackson, S. P. <strong>Human CtIP promotes DNA end resection.</strong> Nature 450: 509-514, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17965729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17965729</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17965729[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/nature06337" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17965729">Sartori et al. (2007)</a> established that CTIP physically and functionally interacts with the MRE11 (<a href="/entry/600814">600814</a>) complex, and that both CTIP and MRE11 are required for efficient homologous recombination. Finally, <a href="#12" class="mim-tip-reference" title="Sartori, A. A., Lukas, C., Coates, J., Mistrik, M., Fu, S., Bartek, J., Baer, R., Lukas, J., Jackson, S. P. <strong>Human CtIP promotes DNA end resection.</strong> Nature 450: 509-514, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17965729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17965729</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17965729[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/nature06337" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17965729">Sartori et al. (2007)</a> demonstrated that CTIP has sequence homology with Sae2, which is involved in MRE11-dependent double-strand break processing in yeast. <a href="#12" class="mim-tip-reference" title="Sartori, A. A., Lukas, C., Coates, J., Mistrik, M., Fu, S., Bartek, J., Baer, R., Lukas, J., Jackson, S. P. <strong>Human CtIP promotes DNA end resection.</strong> Nature 450: 509-514, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17965729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17965729</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17965729[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/nature06337" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17965729">Sartori et al. (2007)</a> concluded that their findings established evolutionarily conserved roles for CTIP-like proteins in controlling double-strand break resection, checkpoint signaling, and homologous recombination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17965729" 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="#7" class="mim-tip-reference" title="Mimitou, E. P., Symington, L. S. <strong>Sae2, Exo1 and Sgs1 collaborate in DNA double-strand break processing.</strong> Nature 455: 770-774, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18806779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18806779</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18806779[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/nature07312" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18806779">Mimitou and Symington (2008)</a> demonstrated that yeast Exo1 nuclease (<a href="/entry/606063">606063</a>) and Sgs1 helicase (see <a href="/entry/604611">604611</a>) functioned in alternative pathways for double-strand break (DSB) processing. Novel, partially resected intermediates, whose initial generation depended on Sae2, accumulated in yeast lacking both Exo1 and Sgs1 and were poor substrates for homologous recombination. When Sae2 was absent, in addition to Exo1 and Sgs1, homology-dependent repair failed and unprocessed DSBs accumulated. <a href="#7" class="mim-tip-reference" title="Mimitou, E. P., Symington, L. S. <strong>Sae2, Exo1 and Sgs1 collaborate in DNA double-strand break processing.</strong> Nature 455: 770-774, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18806779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18806779</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18806779[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/nature07312" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18806779">Mimitou and Symington (2008)</a> concluded that there is a 2-step mechanism for DSB processing during homologous recombination, with the Mre11 complex and Sae2 removing a small oligonucleotide from DNA ends to form an early intermediate, followed by processing of this intermediate by Exo1 and/or Sgs1 to generate extensive tracts of single-stranded DNA that serve as a substrate for Rad51 (<a href="/entry/179617">179617</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18806779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Yun, M. H., Hiom, K. <strong>CtIP-BRCA1 modulates the choice of DNA double-strand-break repair pathway throughout the cell cycle.</strong> Nature 459: 460-463, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19357644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19357644</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19357644[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/nature07955" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19357644">Yun and Hiom (2009)</a> identified a role for CTIP in repair of DNA double-strand breaks (DSBs) in the avian B-cell line DT40. They established that CTIP is required not only for repair of DSB by homologous recombination in S/G2 phase but also for microhomology-mediated end joining (MMEJ) in G1. The function of CTIP in homologous recombination, but not MMEJ, is dependent on the phosphorylation of serine residue 327 and recruitment of BRCA1 (<a href="/entry/113705">113705</a>). Cells expressing CTIP protein that cannot be phosphorylated at ser327 are specifically defective in homologous recombination and have a decreased level of single-stranded DNA after DNA damage, whereas MMEJ remains unaffected. <a href="#20" class="mim-tip-reference" title="Yun, M. H., Hiom, K. <strong>CtIP-BRCA1 modulates the choice of DNA double-strand-break repair pathway throughout the cell cycle.</strong> Nature 459: 460-463, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19357644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19357644</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19357644[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/nature07955" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19357644">Yun and Hiom (2009)</a> concluded that their data support a model in which phosphorylation of ser327 of CTIP as cells enter S phase and the recruitment of BRCA1 functions as a molecular switch to shift the balance of DSB repair from error-prone DNA end joining to error-free homologous recombination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19357644" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#8" class="mim-tip-reference" title="Quaye, L., Dafou, D., Ramus, S. J., Song, H., Gentry-Maharaj, A., Notaridou, M., Hogdall, E., Kjaer, S. K., Christensen, L., Hogdall, C., Easton, D. F., Jacobs, I., Menon, U., Pharoah, P. D. P., Gayther, S. A. <strong>Functional complementation studies identify candidate genes and common genetic variants associated with ovarian cancer survival.</strong> Hum. Molec. Genet. 18: 1869-1878, 2009. Note: Erratum: Hum. Molec. Genet. 18: 2928 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19270026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19270026</a>] [<a href="https://doi.org/10.1093/hmg/ddp107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19270026">Quaye et al. (2009)</a> used microcell-mediated chromosome transfer approach and expression microarray analysis to identify candidate genes that were associated with neoplastic suppression in ovarian cancer (<a href="/entry/167000">167000</a>) cell lines. In over 1,600 ovarian cancer patients from 3 European population-based studies, they genotyped 68 tagging SNPs from 9 candidate genes and found a significant association between survival and 2 tagging SNPs in the RBBP8 gene, <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs4474794;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs4474794</a> (hazard ratio, 0.85; 95% CI, 0.75-0.95; p = 0.007) and <a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs9304261;toggle_HGVS_names=open" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'dbSNP\', \'domain\': \'ensembl.org\'})">rs9304261</a> (hazard ratio, 0.83; 95% CI, 0.71-0.95; p = 0.009). Loss of heterozygosity (LOH) analysis of tagging SNPs in 314 ovarian tumors identified associations between somatic gene deletions and survival. Thirty-five percent of tumors in 101 informative cases showed LOH for the RBBP8 gene, which was associated with a significantly worse prognosis (hazard ratio, 2.19; 95% CI, 1.36-3.54; p = 0.001). <a href="#8" class="mim-tip-reference" title="Quaye, L., Dafou, D., Ramus, S. J., Song, H., Gentry-Maharaj, A., Notaridou, M., Hogdall, E., Kjaer, S. K., Christensen, L., Hogdall, C., Easton, D. F., Jacobs, I., Menon, U., Pharoah, P. D. P., Gayther, S. A. <strong>Functional complementation studies identify candidate genes and common genetic variants associated with ovarian cancer survival.</strong> Hum. Molec. Genet. 18: 1869-1878, 2009. Note: Erratum: Hum. Molec. Genet. 18: 2928 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19270026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19270026</a>] [<a href="https://doi.org/10.1093/hmg/ddp107" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19270026">Quaye et al. (2009)</a> concluded that germline genetic variation and somatic alterations of the RBBP8 gene in tumors are associated with survival in ovarian cancer patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19270026" 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 vivo, <a href="#4" class="mim-tip-reference" title="Helmink, B. A., Tubbs, A. T., Dorsett, Y., Bednarski, J. J., Walker, L. M., Feng, Z., Sharma, G. G., McKinnon, P. J., Zhang, J., Bassing, C. H., Sleckman, B. P. <strong>H2AX prevents CtIP-mediated DNA end resection and aberrant repair in G1-phase lymphocytes.</strong> Nature 469: 245-249, 2011. Note: Erratum: Nature 472: 247 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21160476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21160476</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21160476[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/nature09585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21160476">Helmink et al. (2011)</a> demonstrated that in murine cells the histone protein H2AX (<a href="/entry/601772">601772</a>) prevents nucleases other than Artemis (<a href="/entry/605988">605988</a>) from processing hairpin-sealed coding ends; in the absence of H2AX, CtIP can efficiently promote the hairpin opening and resection of DNA ends generated by RAG (see <a href="/entry/179615">179615</a>) cleavage. This CtIP-mediated resection is inhibited by gamma-H2AX and by MDC1 (<a href="/entry/607593">607593</a>), which binds to gamma-H2AX in chromatin flanking DNA double-strand breaks. Moreover, the ataxia-telangiectasia mutated kinase (ATM; <a href="/entry/607585">607585</a>) activates antagonistic pathways that modulate this resection. CtIP DNA end resection activity is normally limited to cells at postreplicative stages of the cell cycle, in which it is essential for homology-mediated repair. In G1-phase lymphocytes, DNA ends that are processed by CtIP are not efficiently joined by classical nonhomologous end joining and the joints that do form frequently use microhomologies and show significant chromosomal deletions. <a href="#4" class="mim-tip-reference" title="Helmink, B. A., Tubbs, A. T., Dorsett, Y., Bednarski, J. J., Walker, L. M., Feng, Z., Sharma, G. G., McKinnon, P. J., Zhang, J., Bassing, C. H., Sleckman, B. P. <strong>H2AX prevents CtIP-mediated DNA end resection and aberrant repair in G1-phase lymphocytes.</strong> Nature 469: 245-249, 2011. Note: Erratum: Nature 472: 247 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21160476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21160476</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21160476[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/nature09585" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21160476">Helmink et al. (2011)</a> concluded that H2AX preserves the structural integrity of broken DNA ends in G1-phase lymphocytes, thereby preventing these DNA ends from accessing repair pathways that promote genomic instability. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21160476" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Robert, T., Vanoli, F., Chiolo, I., Shubassi, G., Bernstein, K. A., Rothstein, R., Botrugno, O. A., Parazzoli, D., Oldani, A., Minucci, S., Foiani, M. <strong>HDACs link the DNA damage response, processing of double-strand breaks and autophagy.</strong> Nature 471: 74-79, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21368826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21368826</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21368826[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/nature09803" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21368826">Robert et al. (2011)</a> showed that histone deacetylase (HDAC) inhibition/ablation specifically counteracts yeast Mec1 (ortholog of human ATR) activation, double-strand break processing, and single-strand DNA-RFA nucleofilament formation. Moreover, the yeast recombination protein Sae2 is acetylated and degraded after HDAC inhibition. Two HDACs, Hda1 (see HDAC4, <a href="/entry/605314">605314</a>) and Rpd3 (HDAC1; <a href="/entry/601241">601241</a>) and 1 histone acetyltransferase (HAT), Gcn5 (GCN5L2; <a href="/entry/602301">602301</a>), have key roles in these processes. <a href="#11" class="mim-tip-reference" title="Robert, T., Vanoli, F., Chiolo, I., Shubassi, G., Bernstein, K. A., Rothstein, R., Botrugno, O. A., Parazzoli, D., Oldani, A., Minucci, S., Foiani, M. <strong>HDACs link the DNA damage response, processing of double-strand breaks and autophagy.</strong> Nature 471: 74-79, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21368826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21368826</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21368826[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/nature09803" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21368826">Robert et al. (2011)</a> also found that HDAC inhibition triggers Sae2 degradation by promoting autophagy that affects the DNA damage sensitivity of Hda1 and Rpd3 mutants. Rapamycin, which stimulates autophagy by inhibiting Tor (MTOR; <a href="/entry/601231">601231</a>), also causes Sae2 degradation. <a href="#11" class="mim-tip-reference" title="Robert, T., Vanoli, F., Chiolo, I., Shubassi, G., Bernstein, K. A., Rothstein, R., Botrugno, O. A., Parazzoli, D., Oldani, A., Minucci, S., Foiani, M. <strong>HDACs link the DNA damage response, processing of double-strand breaks and autophagy.</strong> Nature 471: 74-79, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21368826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21368826</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21368826[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/nature09803" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21368826">Robert et al. (2011)</a> proposed that Rpd3, Hda1, and Gcn5 control chromosome stability by coordinating the ATR checkpoint and double-strand break processing with autophagy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21368826" 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 consanguineous Iraqi family with Seckel syndrome mapping to chromosome 18p11.31-q11.2 (SCKL2; <a href="/entry/606744">606744</a>), <a href="#9" class="mim-tip-reference" title="Qvist, P., Huertas, P., Jimeno, S., Nyegaard, M., Hassan, M. J., Jackson, S. P., Borglum, A. D. <strong>CtIP mutations cause Seckel and Jawad syndromes.</strong> PLoS Genet. 7: e1002310, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21998596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21998596</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21998596[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/10.1371/journal.pgen.1002310" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21998596">Qvist et al. (2011)</a> sequenced the candidate gene RBBP8 and identified homozygosity for a splice site mutation (<a href="#0002">604124.0002</a>) that segregated with the disease was not found in 100 controls. Analysis of RBBP8 in a consanguineous Pakistani family with another microcephaly syndrome mapping to 18p11.22-q11.2 (Jawad syndrome; <a href="/entry/251255">251255</a>), <a href="#9" class="mim-tip-reference" title="Qvist, P., Huertas, P., Jimeno, S., Nyegaard, M., Hassan, M. J., Jackson, S. P., Borglum, A. D. <strong>CtIP mutations cause Seckel and Jawad syndromes.</strong> PLoS Genet. 7: e1002310, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21998596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21998596</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21998596[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/10.1371/journal.pgen.1002310" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21998596">Qvist et al. (2011)</a> identified homozygosity for a 2-bp deletion (<a href="#0003">604124.0003</a>) in affected individuals. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21998596" 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 9-year-old Saudi Arabian girl with Seckel syndrome, <a href="#14" class="mim-tip-reference" title="Shaheen, R., Faqeih, E., Ansari, S., Abdel-Salam, G., Al-Hassnan, Z. N., Al-Shidi, T., Alomar, R., Sogaty, S., Alkuraya, F. S. <strong>Genomic analysis of primordial dwarfism reveals novel disease genes.</strong> Genome Res. 24: 291-299, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24389050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24389050</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24389050[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/10.1101/gr.160572.113" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24389050">Shaheen et al. (2014)</a> identified homozygosity for a missense mutation in the RBBP8 gene (R100W; <a href="#0004">604124.0004</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24389050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><strong><em>Somatic Mutations</em></strong></p><p>
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<a href="#17" class="mim-tip-reference" title="Wong, A. K. C., Ormonde, P. A., Pero, R., Chen, Y., Lian, L., Salada, G., Berry, S., Lawrence, Q., Dayananth, P., Ha, P., Tavtigian, S. V., Teng, D. H.-F., Bartel, P. L. <strong>Characterization of a carboxy-terminal BRCA1 interacting protein.</strong> Oncogene 17: 2279-2285, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9811458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9811458</a>] [<a href="https://doi.org/10.1038/sj.onc.1202150" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9811458">Wong et al. (1998)</a> screened a panel of 89 tumor cell line cDNAs for mutations in the CTIP coding region and identified 5 missense variants, including 1 in a pancreatic carcinoma cell line (<a href="#0001">604124.0001</a>). The authors suggested that CTIP might be a tumor suppressor acting in the same pathway as BRCA1 (<a href="/entry/113705">113705</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9811458" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=604124[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs121434388 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434388;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs121434388?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs121434388" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs121434388" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p><a href="#17" class="mim-tip-reference" title="Wong, A. K. C., Ormonde, P. A., Pero, R., Chen, Y., Lian, L., Salada, G., Berry, S., Lawrence, Q., Dayananth, P., Ha, P., Tavtigian, S. V., Teng, D. H.-F., Bartel, P. L. <strong>Characterization of a carboxy-terminal BRCA1 interacting protein.</strong> Oncogene 17: 2279-2285, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9811458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9811458</a>] [<a href="https://doi.org/10.1038/sj.onc.1202150" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9811458">Wong et al. (1998)</a> screened a panel of 89 tumor cell line cDNAs for mutations in the CTIP coding region and identified 5 missense variants. In the pancreatic carcinoma cell line BxPC3, a lysine-to-glutamic acid change at codon 337 was accompanied by apparent loss of heterozygosity or nonexpression of the wildtype allele. Thus <a href="#17" class="mim-tip-reference" title="Wong, A. K. C., Ormonde, P. A., Pero, R., Chen, Y., Lian, L., Salada, G., Berry, S., Lawrence, Q., Dayananth, P., Ha, P., Tavtigian, S. V., Teng, D. H.-F., Bartel, P. L. <strong>Characterization of a carboxy-terminal BRCA1 interacting protein.</strong> Oncogene 17: 2279-2285, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9811458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9811458</a>] [<a href="https://doi.org/10.1038/sj.onc.1202150" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9811458">Wong et al. (1998)</a> concluded that it is possible that CTIP may itself be a tumor suppressor acting in the same pathway as BRCA1 (<a href="/entry/113705">113705</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9811458" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776883 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776883;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587776883" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs587776883" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000023361" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023361" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023361</a>
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<p>In 4 affected sibs from a consanguineous Iraqi family with Seckel syndrome-2 (SCKL2; <a href="/entry/606744">606744</a>), previously studied by <a href="#1" class="mim-tip-reference" title="Borglum, A. D., Balslev, T., Haagerup, A., Birkebaek, N., Binderup, H., Kruse, T. A., Hertz, J. M. <strong>A new locus for Seckel syndrome on chromosome 18p11.31-q11.2.</strong> Europ. J. Hum. Genet. 9: 753-757, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11781686/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11781686</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200701" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11781686">Borglum et al. (2001)</a>, <a href="#9" class="mim-tip-reference" title="Qvist, P., Huertas, P., Jimeno, S., Nyegaard, M., Hassan, M. J., Jackson, S. P., Borglum, A. D. <strong>CtIP mutations cause Seckel and Jawad syndromes.</strong> PLoS Genet. 7: e1002310, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21998596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21998596</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21998596[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/10.1371/journal.pgen.1002310" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21998596">Qvist et al. (2011)</a> identified homozygosity for a T-G transversion 53 bp within intron 15 of the RBBP8 gene (2347+53T-G), resulting in an alternatively spliced transcript and a C-terminally truncated protein. The unaffected parents were both heterozygous for the splice site mutation, which was not found in 100 controls. Analysis of cell lines from family members demonstrated defective DNA damage-induced formation of single-stranded DNA, which acts as a critical cofactor for ATR (<a href="/entry/601215">601215</a>) activation; thus, SCKL2 cells present a lower apoptotic threshold and hypersensitivity to DNA damage. Overexpression of a comparable truncated CTIP variant in non-Seckel cells recapitulated SCKL2 cellular phenotypes in a dose-dependent manner. <a href="#9" class="mim-tip-reference" title="Qvist, P., Huertas, P., Jimeno, S., Nyegaard, M., Hassan, M. J., Jackson, S. P., Borglum, A. D. <strong>CtIP mutations cause Seckel and Jawad syndromes.</strong> PLoS Genet. 7: e1002310, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21998596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21998596</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21998596[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/10.1371/journal.pgen.1002310" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21998596">Qvist et al. (2011)</a> stated that this represented a new type of genetic disease mechanism in which a dominant-negative mutation yields a recessively inherited disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11781686+21998596" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 JAWAD SYNDROME</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs587776884 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776884;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587776884" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs587776884" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000023362" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000023362" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000023362</a>
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<p>In affected members of a consanguineous Pakistani family with microcephaly, mental retardation, and digital anomalies (JWDS; <a href="/entry/251255">251255</a>) mapping to chromosome 18p11.22-q11.2, previously studied by <a href="#3" class="mim-tip-reference" title="Hassan, M. J., Chishti, M. S., Jamal, S. M., Tariq, M., Ahmad, W. <strong>A syndromic form of autosomal recessive congenital microcephaly (Jawad syndrome) maps to chromosome 18p11.22-q11.2.</strong> Hum. Genet. 123: 77-82, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18071751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18071751</a>] [<a href="https://doi.org/10.1007/s00439-007-0452-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18071751">Hassan et al. (2008)</a>, <a href="#9" class="mim-tip-reference" title="Qvist, P., Huertas, P., Jimeno, S., Nyegaard, M., Hassan, M. J., Jackson, S. P., Borglum, A. D. <strong>CtIP mutations cause Seckel and Jawad syndromes.</strong> PLoS Genet. 7: e1002310, 2011. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21998596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21998596</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21998596[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/10.1371/journal.pgen.1002310" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21998596">Qvist et al. (2011)</a> identified homozygosity for a 2-bp deletion in exon 11 of the RBBP8 gene, causing a frameshift resulting in a premature termination codon. The mutation was detected in heterozygosity in 2 obligate carriers and was not found in any controls. <a href="#10" class="mim-tip-reference" title="Qvist, P. <strong>Personal Communication.</strong> Aarhus, Denmark 2/21/2012."None>Qvist (2012)</a> stated that mutation was 1868delTA. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=21998596+18071751" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs373804633 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs373804633;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs373804633?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs373804633" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs373804633" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000115043 OR RCV001818257 OR RCV002470768 OR RCV002490771" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000115043, RCV001818257, RCV002470768, RCV002490771" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000115043...</a>
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<p>In a 9-year-old Saudi Arabian girl with Seckel syndrome-2 (SCKL2; <a href="/entry/606744">606744</a>), <a href="#14" class="mim-tip-reference" title="Shaheen, R., Faqeih, E., Ansari, S., Abdel-Salam, G., Al-Hassnan, Z. N., Al-Shidi, T., Alomar, R., Sogaty, S., Alkuraya, F. S. <strong>Genomic analysis of primordial dwarfism reveals novel disease genes.</strong> Genome Res. 24: 291-299, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24389050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24389050</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24389050[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/10.1101/gr.160572.113" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24389050">Shaheen et al. (2014)</a> identified homozygosity for a c.298C-T transition in the RBBP8 gene, resulting in an arg100-to-trp (R100W) substitution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24389050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Borglum2001" class="mim-anchor"></a>
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Borglum, A. D., Balslev, T., Haagerup, A., Birkebaek, N., Binderup, H., Kruse, T. A., Hertz, J. M.
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<strong>A new locus for Seckel syndrome on chromosome 18p11.31-q11.2.</strong>
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Europ. J. Hum. Genet. 9: 753-757, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11781686/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11781686</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11781686" 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/sj.ejhg.5200701" target="_blank">Full Text</a>]
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Fusco, C., Reymond, A., Zervos, A. S.
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<strong>Molecular cloning and characterization of a novel retinoblastoma-binding protein.</strong>
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Genomics 51: 351-358, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9721205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9721205</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9721205" 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.1998.5368" target="_blank">Full Text</a>]
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Hassan, M. J., Chishti, M. S., Jamal, S. M., Tariq, M., Ahmad, W.
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<strong>A syndromic form of autosomal recessive congenital microcephaly (Jawad syndrome) maps to chromosome 18p11.22-q11.2.</strong>
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Hum. Genet. 123: 77-82, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18071751/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18071751</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18071751" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00439-007-0452-x" target="_blank">Full Text</a>]
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Helmink, B. A., Tubbs, A. T., Dorsett, Y., Bednarski, J. J., Walker, L. M., Feng, Z., Sharma, G. G., McKinnon, P. J., Zhang, J., Bassing, C. H., Sleckman, B. P.
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<strong>H2AX prevents CtIP-mediated DNA end resection and aberrant repair in G1-phase lymphocytes.</strong>
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Nature 469: 245-249, 2011. Note: Erratum: Nature 472: 247 only, 2011.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21160476/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21160476</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21160476[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=21160476" 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/nature09585" target="_blank">Full Text</a>]
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Kaidi, A., Weinert, B. T., Choudhary, C., Jackson, S. P.
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<strong>Human SIRT6 promotes DNA end resection through CtIP deacetylation.</strong>
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Science 329: 1348-1353, 2010. Note: Editorial Expression of Concern: Science 361: 1322 only, 2018. Retraction: Science 364: 247 only, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20829486/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20829486</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20829486" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.1192049" target="_blank">Full Text</a>]
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Li, S., Ting, N. S. Y., Zheng, L., Chen, P.-L., Ziv, Y., Shiloh, Y., Lee, E. Y.-H. P., Lee, W.-H.
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<strong>Functional link of BRCA1 and ataxia telangiectasia gene product in DNA damage response.</strong>
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Nature 406: 210-215, 2000.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10910365/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10910365</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10910365" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/35018134" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Mimitou2008" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mimitou, E. P., Symington, L. S.
|
|
<strong>Sae2, Exo1 and Sgs1 collaborate in DNA double-strand break processing.</strong>
|
|
Nature 455: 770-774, 2008.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18806779/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18806779</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18806779[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=18806779" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/nature07312" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Quaye2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Quaye, L., Dafou, D., Ramus, S. J., Song, H., Gentry-Maharaj, A., Notaridou, M., Hogdall, E., Kjaer, S. K., Christensen, L., Hogdall, C., Easton, D. F., Jacobs, I., Menon, U., Pharoah, P. D. P., Gayther, S. A.
|
|
<strong>Functional complementation studies identify candidate genes and common genetic variants associated with ovarian cancer survival.</strong>
|
|
Hum. Molec. Genet. 18: 1869-1878, 2009. Note: Erratum: Hum. Molec. Genet. 18: 2928 only, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19270026/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19270026</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19270026" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1093/hmg/ddp107" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Qvist2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Qvist, P., Huertas, P., Jimeno, S., Nyegaard, M., Hassan, M. J., Jackson, S. P., Borglum, A. D.
|
|
<strong>CtIP mutations cause Seckel and Jawad syndromes.</strong>
|
|
PLoS Genet. 7: e1002310, 2011. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21998596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21998596</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21998596[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=21998596" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1371/journal.pgen.1002310" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Qvist2012" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Qvist, P.
|
|
<strong>Personal Communication.</strong>
|
|
Aarhus, Denmark 2/21/2012.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Robert2011" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Robert, T., Vanoli, F., Chiolo, I., Shubassi, G., Bernstein, K. A., Rothstein, R., Botrugno, O. A., Parazzoli, D., Oldani, A., Minucci, S., Foiani, M.
|
|
<strong>HDACs link the DNA damage response, processing of double-strand breaks and autophagy.</strong>
|
|
Nature 471: 74-79, 2011.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21368826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21368826</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21368826[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=21368826" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/nature09803" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Sartori2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sartori, A. A., Lukas, C., Coates, J., Mistrik, M., Fu, S., Bartek, J., Baer, R., Lukas, J., Jackson, S. P.
|
|
<strong>Human CtIP promotes DNA end resection.</strong>
|
|
Nature 450: 509-514, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17965729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17965729</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17965729[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=17965729" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/nature06337" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Schaeper1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schaeper, U., Subramanian, T., Lim, L., Boyd, J. M., Chinnadurai, G.
|
|
<strong>Interaction between a cellular protein that binds to the C-terminal region of adenovirus E1A (CtBP) and a novel cellular protein is disrupted by E1A through a conserved PLDLS motif.</strong>
|
|
J. Biol. Chem. 273: 8549-8552, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9535825/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9535825</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9535825" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1074/jbc.273.15.8549" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Shaheen2014" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Shaheen, R., Faqeih, E., Ansari, S., Abdel-Salam, G., Al-Hassnan, Z. N., Al-Shidi, T., Alomar, R., Sogaty, S., Alkuraya, F. S.
|
|
<strong>Genomic analysis of primordial dwarfism reveals novel disease genes.</strong>
|
|
Genome Res. 24: 291-299, 2014.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24389050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24389050</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24389050[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=24389050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1101/gr.160572.113" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Sum2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sum, E. Y. M., Peng, B., Yu, X., Chen, J., Byrne, J., Lindeman, G. J., Visvader, J. E.
|
|
<strong>The LIM domain protein LMO4 interacts with the cofactor CtIP and the tumor suppressor BRCA1 and inhibits BRCA1 activity.</strong>
|
|
J. Biol. Chem. 277: 7849-7856, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11751867/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11751867</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11751867" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1074/jbc.M110603200" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Vilkki2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Vilkki, S., Launonen, V., Karhu, A., Sistonen, P., Vastrik, I., Aaltonen, L. A.
|
|
<strong>Screening for microsatellite instability target genes in colorectal cancers.</strong>
|
|
J. Med. Genet. 39: 785-789, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12414815/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12414815</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12414815" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1136/jmg.39.11.785" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Wong1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Wong, A. K. C., Ormonde, P. A., Pero, R., Chen, Y., Lian, L., Salada, G., Berry, S., Lawrence, Q., Dayananth, P., Ha, P., Tavtigian, S. V., Teng, D. H.-F., Bartel, P. L.
|
|
<strong>Characterization of a carboxy-terminal BRCA1 interacting protein.</strong>
|
|
Oncogene 17: 2279-2285, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9811458/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9811458</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9811458" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/sj.onc.1202150" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Yu2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Yu, X., Baer, R.
|
|
<strong>Nuclear localization and cell cycle-specific expression of CtIP, a protein that associates with the BRCA1 tumor suppressor.</strong>
|
|
J. Biol. Chem. 275: 18541-18549, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10764811/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10764811</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10764811" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1074/jbc.M909494199" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Yu1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Yu, X., Wu, L. C., Bowcock, A. M., Aronheim, A., Baer, R.
|
|
<strong>The C-terminal (BRCT) domains of BRCA1 interact in vivo with CtIP, a protein implicated in the CtBP pathway of transcriptional repression.</strong>
|
|
J. Biol. Chem. 273: 25388-25392, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9738006/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9738006</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9738006" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1074/jbc.273.39.25388" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Yun2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Yun, M. H., Hiom, K.
|
|
<strong>CtIP-BRCA1 modulates the choice of DNA double-strand-break repair pathway throughout the cell cycle.</strong>
|
|
Nature 459: 460-463, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19357644/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19357644</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19357644[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=19357644" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/nature07955" target="_blank">Full Text</a>]
|
|
|
|
|
|
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|
|
</div>
|
|
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|
|
|
|
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|
|
|
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|
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|
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 5/12/2014
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 2/14/2012<br>Ada Hamosh - updated : 6/20/2011<br>Ada Hamosh - updated : 1/28/2011<br>Ada Hamosh - updated : 9/28/2010<br>George E. Tiller - updated : 2/22/2010<br>Ada Hamosh - updated : 8/17/2009<br>Paul J. Converse - updated : 11/19/2008<br>Ada Hamosh - updated : 4/22/2008<br>Patricia A. Hartz - updated : 7/14/2005<br>Victor A. McKusick - updated : 5/7/2004<br>Ada Hamosh - updated : 7/12/2000
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|
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Creation Date:
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<span class="mim-text-font">
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Jennifer P. Macke : 8/13/1999
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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alopez : 06/13/2022
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carol : 05/24/2019<br>carol : 04/18/2019<br>carol : 04/17/2019<br>alopez : 04/09/2019<br>alopez : 06/11/2015<br>carol : 5/12/2014<br>mcolton : 5/12/2014<br>terry : 8/8/2012<br>carol : 2/22/2012<br>carol : 2/15/2012<br>terry : 2/14/2012<br>alopez : 6/20/2011<br>alopez : 6/17/2011<br>alopez : 6/10/2011<br>alopez : 2/3/2011<br>terry : 1/28/2011<br>alopez : 10/1/2010<br>terry : 9/28/2010<br>wwang : 2/24/2010<br>terry : 2/22/2010<br>alopez : 8/19/2009<br>terry : 8/17/2009<br>terry : 5/27/2009<br>mgross : 11/19/2008<br>mgross : 11/19/2008<br>terry : 11/19/2008<br>alopez : 5/14/2008<br>terry : 4/22/2008<br>mgross : 7/14/2005<br>joanna : 5/31/2005<br>alopez : 5/7/2004<br>carol : 8/13/2003<br>ckniffin : 3/11/2003<br>terry : 11/8/2000<br>alopez : 7/12/2000<br>alopez : 8/16/1999<br>alopez : 8/13/1999<br>alopez : 8/13/1999<br>alopez : 8/13/1999
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<span class="mim-font">
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<strong>*</strong> 604124
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<h3>
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RETINOBLASTOMA-BINDING PROTEIN 8; RBBP8
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<em>Alternative titles; symbols</em>
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RETINOBLASTOMA-INTERACTING AND MYOSIN-LIKE; RIM<br />
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CTBP-INTERACTING PROTEIN; CTIP
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: RBBP8</em></strong>
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<strong>SNOMEDCT:</strong> 771470001;
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Cytogenetic location: 18q11.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 18:22,914,139-23,026,486 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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<strong>Gene-Phenotype Relationships</strong>
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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18q11.2
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Jawad syndrome
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251255
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Autosomal recessive
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3
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Pancreatic carcinoma, somatic
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3
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Seckel syndrome 2
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606744
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Autosomal recessive
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3
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<strong>TEXT</strong>
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<strong>Cloning and Expression</strong>
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<p>Fusco et al. (1998) described the isolation and characterization of a cDNA encoding a polypeptide, named RIM (retinoblastoma-interacting myosin-like), that interacted in a yeast 2-hybrid system as well as in mammalian cells with the retinoblastoma (RB1; 614041) protein. The RIM cDNA predicts an 897-amino acid polypeptide containing 2 leucine zipper motifs, an RB1-binding domain, and a CTBP (see 602618)-binding domain. The RIM protein has weak homology to myosin family (see 160720) proteins throughout its length. Northern blot analysis revealed a ubiquitously expressed 3.6-kb mRNA. Immunoprecipitation experiments revealed that a truncated RIM protein containing amino acids 142-897 interacts with RB1 in mammalian cells. </p><p>To understand the mechanism by which interaction between E1A and CTBP results in tumorigenesis-restraining activity, Schaeper et al. (1998) searched for cellular proteins that complex with CTBP. By a yeast 2-hybrid screen and RACE PCR, Schaeper et al. (1998) identified and cloned a CTBP-interacting protein (CTIP). CTIP contains a 5-amino acid motif, the PLDLS motif, that is highly conserved among E1A proteins of all human adenoviruses. CTIP binds to CTBP via the PLDLS motif. </p>
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<strong>Mapping</strong>
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<p>Fusco et al. (1998) mapped the RBBP8 gene to chromosome 18q11.2 by fluorescence in situ hybridization. </p>
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<strong>Gene Function</strong>
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<p>Yu et al. (1998) used the Sos recruitment system to screen for proteins that bind to the region of BRCA1 (113705) containing the BRCT domains. Yu et al. (1998) found that the BRCT domains interact in vivo with CTIP, a protein identified on the basis of its association with the CTBP transcriptional corepressor (Schaeper et al., 1998). Yu et al. (1998) concluded that BRCA1 regulates gene expression, at least in part, by modulating CTBP-mediated transcriptional repression. Moreover, Yu et al. (1998) found that the in vivo interaction between BRCA1 and CTIP is completely ablated by each of 3 independent tumor-associated mutations affecting the BRCT motifs of BRCA1. Yu et al. (1998) concluded that BRCA1-CTIP interaction may be required for tumor suppression by BRCA1. </p><p>Wong et al. (1998) used yeast 2-hybrid and in vitro biochemical assays to demonstrate that CTIP interacts specifically with the C-terminal segment of human BRCA1 from residues 1602 to 1863. A germline mutation that removes the last 11 amino acids from the C terminus of BRCA1 abolishes not only its transcriptional activation function, but also binding to CTIP. </p><p>Li et al. (2000) demonstrated that the BRCA1-associated protein CTIP becomes hyperphosphorylated and dissociated from BRCA1 upon ionizing radiation. This phosphorylation event requires the protein kinase ATM (see 607585). ATM phosphorylates CTIP at serine residues 664 and 745, and mutation of these sites to alanine abrogates the dissociation of BRCA1 from CTIP, resulting in persistent repression of BRCA1-dependent induction of GADD45 (126335) upon ionizing radiation. Li et al. (2000) concluded that ATM, by phosphorylating CTIP upon ionizing radiation, may modulate BRCA1-mediated regulation of the DNA damage-response GADD45 gene, thus providing a potential link between ATM deficiency and breast cancer. </p><p>Yu and Baer (2000) showed that CTIP, like its associated factors, is predominantly a nuclear protein. A subset of the endogenous pool of CTIP polypeptides exists in a protein complex that includes both BRCA1 and BRCA1-associated RING-domain protein (BARD1; 601593). At the protein level, CTIP expression varies with cell cycle progression in a pattern identical to that of BRCA1. Thus, the steady-state levels of CTIP polypeptides, which remain low in resting cells and in G(1) cycling cells, increase dramatically as dividing cells traverse the G(1)/S boundary. In contrast to BRCA1, however, the G(1)/S induction of CTIP expression is mediated primarily by posttranscriptional mechanisms. Yu and Baer (2000) found that the interaction between CTIP and BRCA1 is stable in the face of genotoxic stress elicited by treatment with UV light, adriamycin, or hydrogen peroxide. Yu and Baer (2000) suggested that CTIP can potentially modulate the functions ascribed to BRCA1 in transcriptional regulation, DNA repair, and/or cell cycle checkpoint control. </p><p>In a search for novel target genes for microsatellite instability (MSI), Vilkki et al. (2002) studied mutation rates in 14 neutral intronic repeats and compared these rates with those observed in exonic coding repeats of potential MSI target genes. As expected, the length of an intronic mononucleotide repeat correlated positively with the number of slippages for both G/C and A/T repeats. Sequencing showed a significantly increased mutation rate in the exonic A9 repeat of CTIP (25/109 = 22.9%) as compared with similar intronic repeats (p less than or equal to 0.001). Vilkki et al. (2002) concluded that CTIP should be evaluated as an MSI target gene. </p><p>Using human and mouse expression plasmids in several protein interaction assays, Sum et al. (2002) identified CTIP and BRCA1 as LMO4 (603129)-binding proteins. LDB1 (603451) also associated with a complex containing LMO4, CTIP, and BRCA1 in transfected human embryonic kidney cells. In functional assays, LMO4 repressed BRCA1-mediated transcriptional activation in both yeast and mammalian cells. </p><p>Sartori et al. (2007) demonstrated that the human CTIP protein confers resistance to double-strand break-inducing agents and is recruited to double-strand breaks exclusively in the S and G2 cell cycle phases. Moreover, Sartori et al. (2007) revealed that CTIP is required for double-strand break resection, and thereby for recruitment of replication protein A (see RPA1, 179835) and the protein kinase ATR (601215) to double-strand breaks, and for the ensuing ATR activation. Furthermore, Sartori et al. (2007) established that CTIP physically and functionally interacts with the MRE11 (600814) complex, and that both CTIP and MRE11 are required for efficient homologous recombination. Finally, Sartori et al. (2007) demonstrated that CTIP has sequence homology with Sae2, which is involved in MRE11-dependent double-strand break processing in yeast. Sartori et al. (2007) concluded that their findings established evolutionarily conserved roles for CTIP-like proteins in controlling double-strand break resection, checkpoint signaling, and homologous recombination. </p><p>Mimitou and Symington (2008) demonstrated that yeast Exo1 nuclease (606063) and Sgs1 helicase (see 604611) functioned in alternative pathways for double-strand break (DSB) processing. Novel, partially resected intermediates, whose initial generation depended on Sae2, accumulated in yeast lacking both Exo1 and Sgs1 and were poor substrates for homologous recombination. When Sae2 was absent, in addition to Exo1 and Sgs1, homology-dependent repair failed and unprocessed DSBs accumulated. Mimitou and Symington (2008) concluded that there is a 2-step mechanism for DSB processing during homologous recombination, with the Mre11 complex and Sae2 removing a small oligonucleotide from DNA ends to form an early intermediate, followed by processing of this intermediate by Exo1 and/or Sgs1 to generate extensive tracts of single-stranded DNA that serve as a substrate for Rad51 (179617). </p><p>Yun and Hiom (2009) identified a role for CTIP in repair of DNA double-strand breaks (DSBs) in the avian B-cell line DT40. They established that CTIP is required not only for repair of DSB by homologous recombination in S/G2 phase but also for microhomology-mediated end joining (MMEJ) in G1. The function of CTIP in homologous recombination, but not MMEJ, is dependent on the phosphorylation of serine residue 327 and recruitment of BRCA1 (113705). Cells expressing CTIP protein that cannot be phosphorylated at ser327 are specifically defective in homologous recombination and have a decreased level of single-stranded DNA after DNA damage, whereas MMEJ remains unaffected. Yun and Hiom (2009) concluded that their data support a model in which phosphorylation of ser327 of CTIP as cells enter S phase and the recruitment of BRCA1 functions as a molecular switch to shift the balance of DSB repair from error-prone DNA end joining to error-free homologous recombination. </p><p>Quaye et al. (2009) used microcell-mediated chromosome transfer approach and expression microarray analysis to identify candidate genes that were associated with neoplastic suppression in ovarian cancer (167000) cell lines. In over 1,600 ovarian cancer patients from 3 European population-based studies, they genotyped 68 tagging SNPs from 9 candidate genes and found a significant association between survival and 2 tagging SNPs in the RBBP8 gene, rs4474794 (hazard ratio, 0.85; 95% CI, 0.75-0.95; p = 0.007) and rs9304261 (hazard ratio, 0.83; 95% CI, 0.71-0.95; p = 0.009). Loss of heterozygosity (LOH) analysis of tagging SNPs in 314 ovarian tumors identified associations between somatic gene deletions and survival. Thirty-five percent of tumors in 101 informative cases showed LOH for the RBBP8 gene, which was associated with a significantly worse prognosis (hazard ratio, 2.19; 95% CI, 1.36-3.54; p = 0.001). Quaye et al. (2009) concluded that germline genetic variation and somatic alterations of the RBBP8 gene in tumors are associated with survival in ovarian cancer patients. </p><p>In vivo, Helmink et al. (2011) demonstrated that in murine cells the histone protein H2AX (601772) prevents nucleases other than Artemis (605988) from processing hairpin-sealed coding ends; in the absence of H2AX, CtIP can efficiently promote the hairpin opening and resection of DNA ends generated by RAG (see 179615) cleavage. This CtIP-mediated resection is inhibited by gamma-H2AX and by MDC1 (607593), which binds to gamma-H2AX in chromatin flanking DNA double-strand breaks. Moreover, the ataxia-telangiectasia mutated kinase (ATM; 607585) activates antagonistic pathways that modulate this resection. CtIP DNA end resection activity is normally limited to cells at postreplicative stages of the cell cycle, in which it is essential for homology-mediated repair. In G1-phase lymphocytes, DNA ends that are processed by CtIP are not efficiently joined by classical nonhomologous end joining and the joints that do form frequently use microhomologies and show significant chromosomal deletions. Helmink et al. (2011) concluded that H2AX preserves the structural integrity of broken DNA ends in G1-phase lymphocytes, thereby preventing these DNA ends from accessing repair pathways that promote genomic instability. </p><p>Robert et al. (2011) showed that histone deacetylase (HDAC) inhibition/ablation specifically counteracts yeast Mec1 (ortholog of human ATR) activation, double-strand break processing, and single-strand DNA-RFA nucleofilament formation. Moreover, the yeast recombination protein Sae2 is acetylated and degraded after HDAC inhibition. Two HDACs, Hda1 (see HDAC4, 605314) and Rpd3 (HDAC1; 601241) and 1 histone acetyltransferase (HAT), Gcn5 (GCN5L2; 602301), have key roles in these processes. Robert et al. (2011) also found that HDAC inhibition triggers Sae2 degradation by promoting autophagy that affects the DNA damage sensitivity of Hda1 and Rpd3 mutants. Rapamycin, which stimulates autophagy by inhibiting Tor (MTOR; 601231), also causes Sae2 degradation. Robert et al. (2011) proposed that Rpd3, Hda1, and Gcn5 control chromosome stability by coordinating the ATR checkpoint and double-strand break processing with autophagy. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<p>In a consanguineous Iraqi family with Seckel syndrome mapping to chromosome 18p11.31-q11.2 (SCKL2; 606744), Qvist et al. (2011) sequenced the candidate gene RBBP8 and identified homozygosity for a splice site mutation (604124.0002) that segregated with the disease was not found in 100 controls. Analysis of RBBP8 in a consanguineous Pakistani family with another microcephaly syndrome mapping to 18p11.22-q11.2 (Jawad syndrome; 251255), Qvist et al. (2011) identified homozygosity for a 2-bp deletion (604124.0003) in affected individuals. </p><p>In a 9-year-old Saudi Arabian girl with Seckel syndrome, Shaheen et al. (2014) identified homozygosity for a missense mutation in the RBBP8 gene (R100W; 604124.0004). </p><p><strong><em>Somatic Mutations</em></strong></p><p>
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Wong et al. (1998) screened a panel of 89 tumor cell line cDNAs for mutations in the CTIP coding region and identified 5 missense variants, including 1 in a pancreatic carcinoma cell line (604124.0001). The authors suggested that CTIP might be a tumor suppressor acting in the same pathway as BRCA1 (113705). </p>
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<strong>History</strong>
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<span class="mim-text-font">
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<p>The article by Kaidi et al. (2010) describing interaction between CTIP and SIRT6 (606211) was retracted because an investigation by the University of Cambridge concluded that the first author, Abderrahmane Kaidi, falsified data. </p>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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<strong>4 Selected Examples):</strong>
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<h4>
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<span class="mim-font">
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<strong>.0001 PANCREATIC CARCINOMA, SOMATIC</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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RBBP8, LYS337GLU
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<br />
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SNP: rs121434388,
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gnomAD: rs121434388,
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ClinVar: RCV000006180, RCV001851692
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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>Wong et al. (1998) screened a panel of 89 tumor cell line cDNAs for mutations in the CTIP coding region and identified 5 missense variants. In the pancreatic carcinoma cell line BxPC3, a lysine-to-glutamic acid change at codon 337 was accompanied by apparent loss of heterozygosity or nonexpression of the wildtype allele. Thus Wong et al. (1998) concluded that it is possible that CTIP may itself be a tumor suppressor acting in the same pathway as BRCA1 (113705). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0002 SECKEL SYNDROME 2</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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RBBP8, IVS15, T-G, +53
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<br />
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SNP: rs587776883,
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ClinVar: RCV000023361
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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 4 affected sibs from a consanguineous Iraqi family with Seckel syndrome-2 (SCKL2; 606744), previously studied by Borglum et al. (2001), Qvist et al. (2011) identified homozygosity for a T-G transversion 53 bp within intron 15 of the RBBP8 gene (2347+53T-G), resulting in an alternatively spliced transcript and a C-terminally truncated protein. The unaffected parents were both heterozygous for the splice site mutation, which was not found in 100 controls. Analysis of cell lines from family members demonstrated defective DNA damage-induced formation of single-stranded DNA, which acts as a critical cofactor for ATR (601215) activation; thus, SCKL2 cells present a lower apoptotic threshold and hypersensitivity to DNA damage. Overexpression of a comparable truncated CTIP variant in non-Seckel cells recapitulated SCKL2 cellular phenotypes in a dose-dependent manner. Qvist et al. (2011) stated that this represented a new type of genetic disease mechanism in which a dominant-negative mutation yields a recessively inherited disorder. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>.0003 JAWAD SYNDROME</strong>
|
|
</span>
|
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</h4>
|
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</div>
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<div>
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<span class="mim-text-font">
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RBBP8, 2-BP DEL, 1868TA
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<br />
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SNP: rs587776884,
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|
|
ClinVar: RCV000023362
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</span>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In affected members of a consanguineous Pakistani family with microcephaly, mental retardation, and digital anomalies (JWDS; 251255) mapping to chromosome 18p11.22-q11.2, previously studied by Hassan et al. (2008), Qvist et al. (2011) identified homozygosity for a 2-bp deletion in exon 11 of the RBBP8 gene, causing a frameshift resulting in a premature termination codon. The mutation was detected in heterozygosity in 2 obligate carriers and was not found in any controls. Qvist (2012) stated that mutation was 1868delTA. </p>
|
|
</span>
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|
</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0004 SECKEL SYNDROME 2</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
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RBBP8, ARG100TRP
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<br />
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|
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SNP: rs373804633,
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|
|
|
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gnomAD: rs373804633,
|
|
|
|
|
|
ClinVar: RCV000115043, RCV001818257, RCV002470768, RCV002490771
|
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|
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</span>
|
|
</div>
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<div>
|
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<span class="mim-text-font">
|
|
<p>In a 9-year-old Saudi Arabian girl with Seckel syndrome-2 (SCKL2; 606744), Shaheen et al. (2014) identified homozygosity for a c.298C-T transition in the RBBP8 gene, resulting in an arg100-to-trp (R100W) substitution. </p>
|
|
</span>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
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<p />
|
|
</div>
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<div>
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<ol>
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<li>
|
|
<p class="mim-text-font">
|
|
Borglum, A. D., Balslev, T., Haagerup, A., Birkebaek, N., Binderup, H., Kruse, T. A., Hertz, J. M.
|
|
<strong>A new locus for Seckel syndrome on chromosome 18p11.31-q11.2.</strong>
|
|
Europ. J. Hum. Genet. 9: 753-757, 2001.
|
|
|
|
|
|
[PubMed: 11781686]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/sj.ejhg.5200701]
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|
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</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fusco, C., Reymond, A., Zervos, A. S.
|
|
<strong>Molecular cloning and characterization of a novel retinoblastoma-binding protein.</strong>
|
|
Genomics 51: 351-358, 1998.
|
|
|
|
|
|
[PubMed: 9721205]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1998.5368]
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hassan, M. J., Chishti, M. S., Jamal, S. M., Tariq, M., Ahmad, W.
|
|
<strong>A syndromic form of autosomal recessive congenital microcephaly (Jawad syndrome) maps to chromosome 18p11.22-q11.2.</strong>
|
|
Hum. Genet. 123: 77-82, 2008.
|
|
|
|
|
|
[PubMed: 18071751]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s00439-007-0452-x]
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</p>
|
|
</li>
|
|
|
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<li>
|
|
<p class="mim-text-font">
|
|
Helmink, B. A., Tubbs, A. T., Dorsett, Y., Bednarski, J. J., Walker, L. M., Feng, Z., Sharma, G. G., McKinnon, P. J., Zhang, J., Bassing, C. H., Sleckman, B. P.
|
|
<strong>H2AX prevents CtIP-mediated DNA end resection and aberrant repair in G1-phase lymphocytes.</strong>
|
|
Nature 469: 245-249, 2011. Note: Erratum: Nature 472: 247 only, 2011.
|
|
|
|
|
|
[PubMed: 21160476]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature09585]
|
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Kaidi, A., Weinert, B. T., Choudhary, C., Jackson, S. P.
|
|
<strong>Human SIRT6 promotes DNA end resection through CtIP deacetylation.</strong>
|
|
Science 329: 1348-1353, 2010. Note: Editorial Expression of Concern: Science 361: 1322 only, 2018. Retraction: Science 364: 247 only, 2019.
|
|
|
|
|
|
[PubMed: 20829486]
|
|
|
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|
|
[Full Text: https://doi.org/10.1126/science.1192049]
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</p>
|
|
</li>
|
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|
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<li>
|
|
<p class="mim-text-font">
|
|
Li, S., Ting, N. S. Y., Zheng, L., Chen, P.-L., Ziv, Y., Shiloh, Y., Lee, E. Y.-H. P., Lee, W.-H.
|
|
<strong>Functional link of BRCA1 and ataxia telangiectasia gene product in DNA damage response.</strong>
|
|
Nature 406: 210-215, 2000.
|
|
|
|
|
|
[PubMed: 10910365]
|
|
|
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|
|
[Full Text: https://doi.org/10.1038/35018134]
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mimitou, E. P., Symington, L. S.
|
|
<strong>Sae2, Exo1 and Sgs1 collaborate in DNA double-strand break processing.</strong>
|
|
Nature 455: 770-774, 2008.
|
|
|
|
|
|
[PubMed: 18806779]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature07312]
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|
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</p>
|
|
</li>
|
|
|
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<li>
|
|
<p class="mim-text-font">
|
|
Quaye, L., Dafou, D., Ramus, S. J., Song, H., Gentry-Maharaj, A., Notaridou, M., Hogdall, E., Kjaer, S. K., Christensen, L., Hogdall, C., Easton, D. F., Jacobs, I., Menon, U., Pharoah, P. D. P., Gayther, S. A.
|
|
<strong>Functional complementation studies identify candidate genes and common genetic variants associated with ovarian cancer survival.</strong>
|
|
Hum. Molec. Genet. 18: 1869-1878, 2009. Note: Erratum: Hum. Molec. Genet. 18: 2928 only, 2009.
|
|
|
|
|
|
[PubMed: 19270026]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddp107]
|
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Qvist, P., Huertas, P., Jimeno, S., Nyegaard, M., Hassan, M. J., Jackson, S. P., Borglum, A. D.
|
|
<strong>CtIP mutations cause Seckel and Jawad syndromes.</strong>
|
|
PLoS Genet. 7: e1002310, 2011. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 21998596]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1371/journal.pgen.1002310]
|
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|
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</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Qvist, P.
|
|
<strong>Personal Communication.</strong>
|
|
Aarhus, Denmark 2/21/2012.
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Robert, T., Vanoli, F., Chiolo, I., Shubassi, G., Bernstein, K. A., Rothstein, R., Botrugno, O. A., Parazzoli, D., Oldani, A., Minucci, S., Foiani, M.
|
|
<strong>HDACs link the DNA damage response, processing of double-strand breaks and autophagy.</strong>
|
|
Nature 471: 74-79, 2011.
|
|
|
|
|
|
[PubMed: 21368826]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature09803]
|
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sartori, A. A., Lukas, C., Coates, J., Mistrik, M., Fu, S., Bartek, J., Baer, R., Lukas, J., Jackson, S. P.
|
|
<strong>Human CtIP promotes DNA end resection.</strong>
|
|
Nature 450: 509-514, 2007.
|
|
|
|
|
|
[PubMed: 17965729]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature06337]
|
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|
|
</p>
|
|
</li>
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Schaeper, U., Subramanian, T., Lim, L., Boyd, J. M., Chinnadurai, G.
|
|
<strong>Interaction between a cellular protein that binds to the C-terminal region of adenovirus E1A (CtBP) and a novel cellular protein is disrupted by E1A through a conserved PLDLS motif.</strong>
|
|
J. Biol. Chem. 273: 8549-8552, 1998.
|
|
|
|
|
|
[PubMed: 9535825]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1074/jbc.273.15.8549]
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Shaheen, R., Faqeih, E., Ansari, S., Abdel-Salam, G., Al-Hassnan, Z. N., Al-Shidi, T., Alomar, R., Sogaty, S., Alkuraya, F. S.
|
|
<strong>Genomic analysis of primordial dwarfism reveals novel disease genes.</strong>
|
|
Genome Res. 24: 291-299, 2014.
|
|
|
|
|
|
[PubMed: 24389050]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1101/gr.160572.113]
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|
|
</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Sum, E. Y. M., Peng, B., Yu, X., Chen, J., Byrne, J., Lindeman, G. J., Visvader, J. E.
|
|
<strong>The LIM domain protein LMO4 interacts with the cofactor CtIP and the tumor suppressor BRCA1 and inhibits BRCA1 activity.</strong>
|
|
J. Biol. Chem. 277: 7849-7856, 2002.
|
|
|
|
|
|
[PubMed: 11751867]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1074/jbc.M110603200]
|
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|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Vilkki, S., Launonen, V., Karhu, A., Sistonen, P., Vastrik, I., Aaltonen, L. A.
|
|
<strong>Screening for microsatellite instability target genes in colorectal cancers.</strong>
|
|
J. Med. Genet. 39: 785-789, 2002.
|
|
|
|
|
|
[PubMed: 12414815]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1136/jmg.39.11.785]
|
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|
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|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Wong, A. K. C., Ormonde, P. A., Pero, R., Chen, Y., Lian, L., Salada, G., Berry, S., Lawrence, Q., Dayananth, P., Ha, P., Tavtigian, S. V., Teng, D. H.-F., Bartel, P. L.
|
|
<strong>Characterization of a carboxy-terminal BRCA1 interacting protein.</strong>
|
|
Oncogene 17: 2279-2285, 1998.
|
|
|
|
|
|
[PubMed: 9811458]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/sj.onc.1202150]
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|
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</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yu, X., Baer, R.
|
|
<strong>Nuclear localization and cell cycle-specific expression of CtIP, a protein that associates with the BRCA1 tumor suppressor.</strong>
|
|
J. Biol. Chem. 275: 18541-18549, 2000.
|
|
|
|
|
|
[PubMed: 10764811]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1074/jbc.M909494199]
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</p>
|
|
</li>
|
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|
|
<li>
|
|
<p class="mim-text-font">
|
|
Yu, X., Wu, L. C., Bowcock, A. M., Aronheim, A., Baer, R.
|
|
<strong>The C-terminal (BRCT) domains of BRCA1 interact in vivo with CtIP, a protein implicated in the CtBP pathway of transcriptional repression.</strong>
|
|
J. Biol. Chem. 273: 25388-25392, 1998.
|
|
|
|
|
|
[PubMed: 9738006]
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|
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|
|
[Full Text: https://doi.org/10.1074/jbc.273.39.25388]
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Yun, M. H., Hiom, K.
|
|
<strong>CtIP-BRCA1 modulates the choice of DNA double-strand-break repair pathway throughout the cell cycle.</strong>
|
|
Nature 459: 460-463, 2009.
|
|
|
|
|
|
[PubMed: 19357644]
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|
|
[Full Text: https://doi.org/10.1038/nature07955]
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</p>
|
|
</li>
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</ol>
|
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<div>
|
|
<br />
|
|
</div>
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|
</div>
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|
</div>
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<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Marla J. F. O'Neill - updated : 5/12/2014<br>Marla J. F. O'Neill - updated : 2/14/2012<br>Ada Hamosh - updated : 6/20/2011<br>Ada Hamosh - updated : 1/28/2011<br>Ada Hamosh - updated : 9/28/2010<br>George E. Tiller - updated : 2/22/2010<br>Ada Hamosh - updated : 8/17/2009<br>Paul J. Converse - updated : 11/19/2008<br>Ada Hamosh - updated : 4/22/2008<br>Patricia A. Hartz - updated : 7/14/2005<br>Victor A. McKusick - updated : 5/7/2004<br>Ada Hamosh - updated : 7/12/2000
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<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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Jennifer P. Macke : 8/13/1999
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