3911 lines
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Entry
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- *602956 - FANCG GENE; FANCG
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*602956</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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="#geneFunction">Gene Function</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/602956">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000221829;t=ENST00000378643" 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=2189" 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=602956" 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 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=ENSG00000221829;t=ENST00000378643" 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_004629" 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_004629" 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=602956" 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=04262&isoform_id=04262_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/FANCG" 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/1857159,2984583,3860408,4759336,6136453,12652579,15079608,32879969,54781379,119578805,119578806,189066574,194373673,922312242,957949356,957949359,957949362,957949365,957949368,972988086" 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/O15287" 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=2189" 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=ENSG00000221829;t=ENST00000378643" 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=FANCG" 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=FANCG" 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+2189" 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/FANCG" 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:2189" 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/2189" 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=chr9&hgg_gene=ENST00000378643.8&hgg_start=35073839&hgg_end=35079942&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:3588" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:3588" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/fancg" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=602956[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=602956[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/FANCG/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000221829" 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=FANCG" 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=FANCG" 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=FANCG" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="http://www.rockefeller.edu/fanconi/mutate/" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=FANCG&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/PA28002" 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:3588" 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:1926471" 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/FANCG#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:1926471" 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/2189/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=2189" 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://zfin.org/ZDB-GENE-050417-103" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://catalog.coriell.org/Search?q=OmimNum:602956" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2189" 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=FANCG&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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602956
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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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FANCG GENE; FANCG
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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X-RAY REPAIR CROSS COMPLEMENTING 9; XRCC9<br />
|
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X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 9; XRCC9
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
|
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=FANCG" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">FANCG</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/9/161?start=-3&limit=10&highlight=161">9p13.3</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr9:35073839-35079942&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'})">9:35,073,839-35,079,942</a> </span>
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</em>
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</strong>
|
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<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">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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|
Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/9/161?start=-3&limit=10&highlight=161">
|
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9p13.3
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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Fanconi anemia, complementation group G
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<a href="/entry/614082"> 614082 </a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
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<p>Rodent cell lines that are hypersensitive to ionizing radiation have been assigned to at least 8 complementation groups, and human genes that correct these mutants have been given an XRCC designation. The Chinese hamster ovary (CHO) cell line UV40 exhibits hypersensitivity not only to ionizing radiation but also to UV radiation, simple alkylating agents, and DNA crosslinking agents. It also shows pronounced spontaneous chromosomal instability and an elevated level of sister chromatid exchange (SCE). By functional complementation of UV40 cells, <a href="#10" class="mim-tip-reference" title="Liu, N., Lamerdin, J. E., Tucker, J. D., Zhou, Z.-Q., Walter, C. A., Albala, J. S., Busch, D. B., Thompson, L. H. <strong>The human XRCC9 gene corrects chromosomal instability and mutagen sensitivities in CHO UV40 cells.</strong> Proc. Nat. Acad. Sci. 94: 9232-9237, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9256465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9256465</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9256465[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.94.17.9232" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9256465">Liu et al. (1997)</a> cloned a cDNA, termed XRCC9, that confers resistance to both hygromycin and mitomycin C. XRCC9 contains a 5-prime GC-rich untranslated region characteristic of housekeeping genes. The putative 622-amino acid protein has a leucine zipper motif at its N terminus, but the authors found no significant similarity to any known protein. By Northern blot analysis, a 2.5-kb XRCC9 mRNA band was present in HeLa and AA8 cells but not in UV cells. In human and baboon tissues, 2 major mRNA bands of 2.2 and 2.5 kb were detected, with highest levels in testis and thymus in human, and in testis in baboon. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9256465" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By differential cytotoxicity assay, <a href="#10" class="mim-tip-reference" title="Liu, N., Lamerdin, J. E., Tucker, J. D., Zhou, Z.-Q., Walter, C. A., Albala, J. S., Busch, D. B., Thompson, L. H. <strong>The human XRCC9 gene corrects chromosomal instability and mutagen sensitivities in CHO UV40 cells.</strong> Proc. Nat. Acad. Sci. 94: 9232-9237, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9256465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9256465</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9256465[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.94.17.9232" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9256465">Liu et al. (1997)</a> found that XRCC9 partially corrected mutagen sensitivity and chromosomal instability in UV40 cells, but did not reduce SCE compared to the parental wildtype cell line AA8. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9256465" 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="Garcia-Higuera, I., Kuang, Y., Naf, D., Wasik, J., D'Andrea, A. D. <strong>Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex.</strong> Molec. Cell. Biol. 19: 4866-4873, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10373536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10373536</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10373536[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.19.7.4866" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10373536">Garcia-Higuera et al. (1999)</a> determined that FANCG is required for binding between FANCA (<a href="/entry/607139">607139</a>) and FANCC (<a href="/entry/613899">613899</a>) and that all 3 proteins are components of a nuclear protein complex. The N-terminal nuclear localization signal of FANCA was required for FANCG binding, FANCC binding, and for complementation of mitomycin C sensitivity in FAA lymphocytes, as well as for nuclear localization. Analysis of the protein interactions formed by lymphoblasts from each of the complementation groups suggested that the interaction between FANCA and FANCG is constitutive and is not regulated by FANCC or by the products of other FA genes. In contrast, the binding of FANCC required FANCA/FANCG binding and the products of other FA genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10373536" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Kuang, Y., Garcia-Higuera, I., Moran, A., Mondoux, M., Digweed, M., D'Andrea, A. D. <strong>Carboxy terminal region of the Fanconi anemia protein, FANCG/XRCC9, is required for functional activity.</strong> Blood 96: 1625-1632, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10961856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10961856</a>]" pmid="10961856">Kuang et al. (2000)</a> demonstrated that the N-terminal two-thirds of FANCG (amino acids 1-428) binds to the N-terminal nuclear localization signal of the FANCA protein. On the basis of 2-hybrid analysis, the FANCA/FANCG binding was shown to be a direct protein-protein interaction. A truncated mutant form of FANCG, lacking the carboxy terminus, bound in a complex with FANCA and translocated to the nucleus; however, this mutant protein failed to bind to FANCC and failed to correct the mitomycin C sensitivity of the group G Fanconi anemia cell line. Taken together, these results demonstrated that binding of FANCG to the N-terminal FANCA nuclear localization signal (NLS) is necessary but not sufficient for the functional activity of FANCG. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10961856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Futaki, M., Watanabe, S., Kajigaya, S., Liu, J. M. <strong>Fanconi anemia protein, FANCG, is a phosphoprotein and is upregulated with FANCA after TNF-alpha treatment.</strong> Biochem. Biophys. Res. Commun. 281: 347-351, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11181053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11181053</a>] [<a href="https://doi.org/10.1006/bbrc.2001.4359" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11181053">Futaki et al. (2001)</a> examined the effects of tumor necrosis factor-alpha (TNFA; <a href="/entry/191160">191160</a>) on the regulation of Fanconi anemia complementation group proteins FANCG and FANCA. <a href="#5" class="mim-tip-reference" title="Futaki, M., Watanabe, S., Kajigaya, S., Liu, J. M. <strong>Fanconi anemia protein, FANCG, is a phosphoprotein and is upregulated with FANCA after TNF-alpha treatment.</strong> Biochem. Biophys. Res. Commun. 281: 347-351, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11181053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11181053</a>] [<a href="https://doi.org/10.1006/bbrc.2001.4359" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11181053">Futaki et al. (2001)</a> found that treatment with TNFA induced FANCG protein expression. FANCA was induced concurrently with FANCG, and the FANCA/FANCG complex was increased in the nucleus following TNFA treatment. Inactivation of inhibitory kappa B kinase-2 (IKK2; <a href="/entry/603258">603258</a>) modulated the expression of FANCG. <a href="#5" class="mim-tip-reference" title="Futaki, M., Watanabe, S., Kajigaya, S., Liu, J. M. <strong>Fanconi anemia protein, FANCG, is a phosphoprotein and is upregulated with FANCA after TNF-alpha treatment.</strong> Biochem. Biophys. Res. Commun. 281: 347-351, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11181053/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11181053</a>] [<a href="https://doi.org/10.1006/bbrc.2001.4359" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11181053">Futaki et al. (2001)</a> also found that both nuclear and cytoplasmic FANCG fractions were phosphorylated. They concluded that FANCG is a phosphoprotein and suggested that the cellular accumulation of FA proteins is subject to regulation by TNFA signaling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11181053" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Donahue, S. L., Campbell, C. <strong>A DNA double strand break repair defect in Fanconi anemia fibroblasts.</strong> J. Biol. Chem. 277: 46243-46247, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12361951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12361951</a>] [<a href="https://doi.org/10.1074/jbc.M207937200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12361951">Donahue and Campbell (2002)</a> found that fibroblasts from FA patients from complementation groups A, C, D2, and G were hypersensitive to restriction enzyme-induced cell death following electroporation of restriction enzymes. These fibroblasts also showed reduced efficiency in plasmid end-joining activity. Normal sensitivity and activity were restored following retrovirus-mediated expression of the respective FA cDNAs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12361951" 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="#22" class="mim-tip-reference" title="Zhang, X., Li, J., Sejas, D. P., Rathbun, K. R., Bagby, G. C., Pang, Q. <strong>The Fanconi anemia proteins functionally interact with the protein kinase regulated by RNA (PKR).</strong> J. Biol. Chem. 279: 43910-43919, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15299030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15299030</a>] [<a href="https://doi.org/10.1074/jbc.M403884200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15299030">Zhang et al. (2004)</a> used immunoprecipitation and reconstituted kinase assays to show that the FANCC, FANCA, and FANCG proteins functionally interacted with and inhibited the proapoptotic kinase PKR, a kinase that represses translation when activated. PKR showed strongest binding to the FANCC protein. PKR activity was increased in bone marrow cells of patients with Fanconi anemia with mutations in the FANCC, FANCA, and FANCG genes. All 3 of these cell lines showed significant increases in PKR bound to the FANCC protein, which correlated with increased PKR activation. The cells also showed hypersensitivity to growth repression mediated by IFN-gamma (<a href="/entry/147570">147570</a>) and TNF-alpha. Forced expression of a patient-derived FANCC mutation increased PKR activation and cell death. <a href="#22" class="mim-tip-reference" title="Zhang, X., Li, J., Sejas, D. P., Rathbun, K. R., Bagby, G. C., Pang, Q. <strong>The Fanconi anemia proteins functionally interact with the protein kinase regulated by RNA (PKR).</strong> J. Biol. Chem. 279: 43910-43919, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15299030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15299030</a>] [<a href="https://doi.org/10.1074/jbc.M403884200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15299030">Zhang et al. (2004)</a> concluded that FA mutations cause increased binding of PKR to FANCC and increased PKR activation, leading to growth inhibition of hematopoietic progenitors and bone marrow failure in Fanconi anemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15299030" 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 order to elucidate the role of Fancg in homologous recombination, <a href="#20" class="mim-tip-reference" title="Yamamoto, K., Ishiai, M., Matsushita, N., Arakawa, H., Lamerdin, J. E., Buerstedde, J.-M., Tanimoto, M., Harada, M., Thompson, L. H., Takata, M. <strong>Fanconi anemia FANCG protein in mitigating radiation- and enzyme-induced DNA double-strand breaks by homologous recombination in vertebrate cells.</strong> Molec. Cell. Biol. 23: 5421-5430, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12861027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12861027</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12861027[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.23.15.5421-5430.2003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12861027">Yamamoto et al. (2003)</a> disrupted the Fancg locus in a chicken B-cell line. Fancg-deficient cells resembled mammalian Fancg mutants in that they were sensitive to killing by the genotoxic agents cisplatin and mitomycin C (MMC) and they exhibited increased MMC and radiation-induced chromosome breakage. The repair of restriction enzyme-induced chromosomal double-strand breaks by homologous recombination was decreased about 9-fold in mutant cells compared with parental and FANCG-complemented cells. <a href="#20" class="mim-tip-reference" title="Yamamoto, K., Ishiai, M., Matsushita, N., Arakawa, H., Lamerdin, J. E., Buerstedde, J.-M., Tanimoto, M., Harada, M., Thompson, L. H., Takata, M. <strong>Fanconi anemia FANCG protein in mitigating radiation- and enzyme-induced DNA double-strand breaks by homologous recombination in vertebrate cells.</strong> Molec. Cell. Biol. 23: 5421-5430, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12861027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12861027</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12861027[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.23.15.5421-5430.2003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12861027">Yamamoto et al. (2003)</a> concluded that FANCG is required for efficient homologous recombination-mediated repair of at least some types of double-strand breaks. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12861027" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By coimmunoprecipitation of HeLa cell nuclear extracts, <a href="#11" class="mim-tip-reference" title="Meetei, A. R., Sechi, S., Wallisch, M., Yang, D., Young, M. K., Joenje, H., Hoatlin, M. E., Wang, W. <strong>A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome.</strong> Molec. Cell. Biol. 23: 3417-3426, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12724401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12724401</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12724401[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.23.10.3417-3426.2003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12724401">Meetei et al. (2003)</a> identified 3 distinct multiprotein complexes associated with BLM (RECQL3; <a href="/entry/604610">604610</a>). One of the complexes, designated BRAFT, contained the Fanconi anemia core complementation group proteins FANCA (<a href="/entry/607139">607139</a>), FANCG, FANCC (<a href="/entry/613899">613899</a>), FANCE (<a href="/entry/613976">613976</a>), and FANCF (<a href="/entry/613897">613897</a>), as well as topoisomerase III-alpha (TOP3A; <a href="/entry/601243">601243</a>) and replication protein A (RPA; see <a href="/entry/179835">179835</a>). BLM complexes isolated from an FA cell line had a lower molecular mass, likely due to loss of FANCA and other FA components. BLM- and FANCA-associated complexes had DNA unwinding activity, and BLM was required for this activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12724401" 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="Hussain, S., Witt, E., Huber, P. A. J., Medhurst, A. L., Ashworth, A., Mathew, C. G. <strong>Direct interaction of the Fanconi anaemia protein FANCG with BRCA2/FANCD1.</strong> Hum. Molec. Genet. 12: 2503-2510, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12915460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12915460</a>] [<a href="https://doi.org/10.1093/hmg/ddg266" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12915460">Hussain et al. (2003)</a> found that FANCG was capable of binding to 2 separate sites in the BRCA2 protein (<a href="/entry/600185">600185</a>) (mutations in which cause FANCD1, <a href="/entry/605724">605724</a>), located on either side of the BRC repeats. Furthermore, FANCG could be coimmunoprecipitated with BRCA2 from human cells, and FANCG colocalized in nuclear foci with both BRCA2 and RAD51 (<a href="/entry/179617">179617</a>) following DNA damage with mitomycin C. The authors concluded that BRCA2 is directly connected to a pathway deficient in interstrand crosslink repair, and that at least one other FA protein is closely associated with the homologous recombination DNA repair machinery. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12915460" 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="#14" class="mim-tip-reference" title="Qiao, F., Mi, J., Wilson, J. B., Zhi, G., Bucheimer, N. R., Jones, N. J., Kupfer, G. M. <strong>Phosphorylation of Fanconi anemia (FA) complementation group G protein, FANCG, at serine 7 is important for function of the FA pathway.</strong> J. Biol. Chem. 279: 46035-46045, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15299017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15299017</a>] [<a href="https://doi.org/10.1074/jbc.M408323200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15299017">Qiao et al. (2004)</a> found that ser7 was phosphorylated in endogenous HeLa cell FANCG. By site-directed mutagenesis, they mutated ser7 to alanine (S7A) and found that only wildtype FANCG fully complemented human and hamster FA-G mutant cells. FANCG(S7A) bound to and stabilized the endogenous forms of the FANCA and FANCC proteins in FA-G cells. FANCG(S7A) aberrantly localized to globules in chromatin and did not abrogate the internuclear bridges seen in FA-G mutant cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15299017" 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>BRCA2 and FANCD2 (<a href="/entry/613984">613984</a>) are not part of the core FA complex, but BRCA2-FANCD2 interaction is required for homologous recombination repair. <a href="#18" class="mim-tip-reference" title="Wilson, J. B., Yamamoto, K., Marriott, A. S., Hussain, S., Sung, P., Hoatlin, M. E., Mathew, C. G., Takata, M., Thompson, L. H., Kupfer, G. M., Jones, N. J. <strong>FANCG promotes formation of a newly identified protein complex containing BRCA2, FANCD2 and XRCC3.</strong> Oncogene 27: 3641-3652, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18212739/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18212739</a>] [<a href="https://doi.org/10.1038/sj.onc.1211034" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18212739">Wilson et al. (2008)</a> found that FANCG was required for interaction of BRCA2 with FANCD2. Moreover, phosphorylation of FANCG at ser7 was required for interaction of FANCG with BRCA2 and XRCC3 (<a href="/entry/600675">600675</a>) and for multiple pairwise interactions among FANCG, BRCA2, FANCD2, and XRCC3. <a href="#18" class="mim-tip-reference" title="Wilson, J. B., Yamamoto, K., Marriott, A. S., Hussain, S., Sung, P., Hoatlin, M. E., Mathew, C. G., Takata, M., Thompson, L. H., Kupfer, G. M., Jones, N. J. <strong>FANCG promotes formation of a newly identified protein complex containing BRCA2, FANCD2 and XRCC3.</strong> Oncogene 27: 3641-3652, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18212739/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18212739</a>] [<a href="https://doi.org/10.1038/sj.onc.1211034" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18212739">Wilson et al. (2008)</a> concluded that a complex made up of at least these 4 proteins promotes homologous recombination repair of damaged DNA. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18212739" 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 yeast 2-hybrid and coimmunoprecipitation assays, <a href="#16" class="mim-tip-reference" title="Tremblay, C. S., Huang, F. F., Habi, O., Huard, C. C., Godin, C., Levesque, G., Carreau, M. <strong>HES1 is a novel interactor of the Fanconi anemia core complex.</strong> Blood 112: 2062-2070, 2008. Note: Erratum: Blood 114: 3974 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18550849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18550849</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18550849[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/10.1182/blood-2008-04-152710" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18550849">Tremblay et al. (2008)</a> found that HES1 (<a href="/entry/139605">139605</a>), a NOTCH1 (<a href="/entry/190198">190198</a>) pathway component involved in hematopoietic stem cell (HSC) self-renewal, interacted directly with FANCA, FANCF, FANCG, and FANCL (PHF9; <a href="/entry/608111">608111</a>), but not with other FA core complex components. Mutation analysis showed that interactions with individual FA core components required different domains within HES1. HES1 did not interact with FA core components if any of them contained an FA-related mutation, suggesting that a functional FA pathway is required for HES1 interaction. Depletion of HES1 from HeLa cells resulted in failure of normal interactions between individual FA core components, as well as altered protein levels and mislocalization of some FA core components. Depletion of HES1 also increased cell sensitivity to MMC and reduced MMC-induced monoubiquitination of FANCD2 and localization of FANCD2 to MMC-induced foci. <a href="#16" class="mim-tip-reference" title="Tremblay, C. S., Huang, F. F., Habi, O., Huard, C. C., Godin, C., Levesque, G., Carreau, M. <strong>HES1 is a novel interactor of the Fanconi anemia core complex.</strong> Blood 112: 2062-2070, 2008. Note: Erratum: Blood 114: 3974 only, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18550849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18550849</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18550849[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/10.1182/blood-2008-04-152710" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18550849">Tremblay et al. (2008)</a> concluded that interaction with HES1 is required for normal FA core complex function in the DNA damage response. They proposed that the HSC defect in FA may result from the inability of HES1 to interact with the defective FA core complex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18550849" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By fluorescence in situ hybridization, <a href="#10" class="mim-tip-reference" title="Liu, N., Lamerdin, J. E., Tucker, J. D., Zhou, Z.-Q., Walter, C. A., Albala, J. S., Busch, D. B., Thompson, L. H. <strong>The human XRCC9 gene corrects chromosomal instability and mutagen sensitivities in CHO UV40 cells.</strong> Proc. Nat. Acad. Sci. 94: 9232-9237, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9256465/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9256465</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9256465[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.94.17.9232" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9256465">Liu et al. (1997)</a> mapped the XRCC9 gene to human chromosome 9p13. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9256465" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Saar, K., Schindler, D., Wegner, R. D., Reis, A., Wienker, T. F., Hoehn, H., Joenje, H., Sperling, K., Digweed, M. <strong>Localisation of a Fanconi anaemia gene to chromosome 9p.</strong> Europ. J. Hum. Genet. 6: 501-508, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9801875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9801875</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200241" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9801875">Saar et al. (1998)</a> mapped the FANCG gene, which is responsible for complementation group G (<a href="/entry/614082">614082</a>), to 9p, using homozygosity mapping in a large consanguineous family. The FANCG gene was shown by <a href="#2" class="mim-tip-reference" title="de Winter, J. P., Waisfisz, Q., Rooimans, M. A., van Berkel, C. G. M., Bosnoyan-Collins, L., Alon, N., Carreau, M., Bender, O., Demuth, I., Schindler, D., Pronk, J. C., Arwert, F., Hoehn, H., Digweed, M., Buchwald, M., Joenje, H. <strong>The Fanconi anaemia group G gene FANCG is identical with XRCC9.</strong> Nature Genet. 20: 281-283, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9806548/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9806548</a>] [<a href="https://doi.org/10.1038/3093" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9806548">de Winter et al. (1998)</a> to be identical to the XRCC9 gene, which had been localized to 9p13. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9801875+9806548" 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 patients with Fanconi anemia of complementation group G (FANCG; <a href="/entry/614082">614082</a>), <a href="#2" class="mim-tip-reference" title="de Winter, J. P., Waisfisz, Q., Rooimans, M. A., van Berkel, C. G. M., Bosnoyan-Collins, L., Alon, N., Carreau, M., Bender, O., Demuth, I., Schindler, D., Pronk, J. C., Arwert, F., Hoehn, H., Digweed, M., Buchwald, M., Joenje, H. <strong>The Fanconi anaemia group G gene FANCG is identical with XRCC9.</strong> Nature Genet. 20: 281-283, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9806548/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9806548</a>] [<a href="https://doi.org/10.1038/3093" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9806548">de Winter et al. (1998)</a> identified mutations in the XRCC9 (FANCG) gene (<a href="#0001">602956.0001</a>-<a href="#0002">602956.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9806548" 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="#19" class="mim-tip-reference" title="Yamada, T., Tachibana, A., Shimizu, T., Mugishima, H., Okubo, M., Sasaki, M. S. <strong>Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia.</strong> J. Hum. Genet. 45: 159-166, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10807541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10807541</a>] [<a href="https://doi.org/10.1007/s100380050203" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10807541">Yamada et al. (2000)</a> identified 2 novel mutations (<a href="#0003">602956.0003</a>, <a href="#0004">602956.0004</a>) of the FANCG gene, causing aberrant RNA splicing, in 2 FA patients. Altogether, 14 of 20 unclassified Japanese FA patients belonged to the FA-A group (FANCA; <a href="/entry/227650">227650</a>), the 2 patients studied belonged to the FA-G group, and none belonged to the FA-C group (FANCC; <a href="/entry/227645">227645</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10807541" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Demuth, I., Wlodarski, M., Tipping, A. J., Morgan, N. V., de Winter, J. P., Thiel, M., Grasl, S., Schindler, D., D'Andrea, A. D., Altay, C., Kayserili, H., Zatterdale, A., Kunze, J., Ebell, W., Mathew, C. G., Joenje, H., Sperling, K., Digweed, M. <strong>Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9.</strong> Europ. J. Hum. Genet. 8: 861-868, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11093276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11093276</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200552" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11093276">Demuth et al. (2000)</a> identified 18 different mutations in the FANCG gene in a panel of 20 FANCG patients, 4 of which had been reported by <a href="#2" class="mim-tip-reference" title="de Winter, J. P., Waisfisz, Q., Rooimans, M. A., van Berkel, C. G. M., Bosnoyan-Collins, L., Alon, N., Carreau, M., Bender, O., Demuth, I., Schindler, D., Pronk, J. C., Arwert, F., Hoehn, H., Digweed, M., Buchwald, M., Joenje, H. <strong>The Fanconi anaemia group G gene FANCG is identical with XRCC9.</strong> Nature Genet. 20: 281-283, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9806548/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9806548</a>] [<a href="https://doi.org/10.1038/3093" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9806548">de Winter et al. (1998)</a>. By using SSCP analysis and sequencing, they identified 39 of 40 mutant alleles. Most of the mutations (94%) were expected to result in protein truncation, and only 1 missense mutation was detected. The 18 mutations showed no obvious clustering within the gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9806548+11093276" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Auerbach, A. D., Greenbaum, J., Pujara, K., Batish, S. D., Bitencourt, M. A., Kokemohr, I., Schneider, H., Lobitz, S., Pasquini, R., Giampietro, P. F., Hanenberg, H., Levran, O. <strong>Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study.</strong> Hum. Mutat. 21: 158-168, 2003. Note: Erratum: Hum. Mutat. 22: 255 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12552564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12552564</a>] [<a href="https://doi.org/10.1002/humu.10166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12552564">Auerbach et al. (2003)</a> studied the distribution of FANCG mutations in the populations covered by the International Fanconi Anemia Registry. They found the most common FANCG mutations were IVS8-2A-G (<a href="#0005">602956.0005</a>), seen in 7 Portuguese-Brazilian probands; IVS11+1G-C (<a href="#0006">602956.0006</a>), seen in 7 French-Acadian probands; 1794-1803del10 (<a href="#0007">602956.0007</a>), seen in 7 European probands; and IVS3+1G-C (<a href="#0003">602956.0003</a>), seen in 5 Korean or Japanese probands. <a href="#1" class="mim-tip-reference" title="Auerbach, A. D., Greenbaum, J., Pujara, K., Batish, S. D., Bitencourt, M. A., Kokemohr, I., Schneider, H., Lobitz, S., Pasquini, R., Giampietro, P. F., Hanenberg, H., Levran, O. <strong>Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study.</strong> Hum. Mutat. 21: 158-168, 2003. Note: Erratum: Hum. Mutat. 22: 255 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12552564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12552564</a>] [<a href="https://doi.org/10.1002/humu.10166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12552564">Auerbach et al. (2003)</a> suggested that the Portuguese-Brazilian, French Acadian, and Korean/Japanese mutations were present in a founding member of each of these populations. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12552564" 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>To further understand the in vivo role of the FANCG gene, <a href="#21" class="mim-tip-reference" title="Yang, Y., Kuang, Y., Montes De Oca, R., Hays, T., Moreau, L., Lu, N., Seed, B., D'Andrea, A. D. <strong>Targeted disruption of the murine Fanconi anemia gene, Fancg/Xrcc9.</strong> Blood 98: 3435-3440, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11719385/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11719385</a>] [<a href="https://doi.org/10.1182/blood.v98.12.3435" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11719385">Yang et al. (2001)</a> generated a targeted disruption of murine Fancg and bred mice homozygous for the targeted allele. Similar to the phenotype of the previously described Fancc-null (<a href="/entry/613899">613899</a>) and Fanca-null (<a href="/entry/607139">607139</a>) mice, the Fancg-null mice had normal viability and no gross developmental abnormalities. Primary splenic lymphocytes, bone marrow progenitor cells, and murine embryo fibroblasts from Fancg-null mice demonstrated spontaneous chromosome breakage and increased sensitivity to mitomycin C and, to a lesser extent, ionizing radiation. Fancg-null lymphocytes had a defect in the Fanconi anemia pathway, demonstrated by their failure to activate the monoubiquitination of the downstream Fancd2 protein in response to ionizing radiation. Finally, Fancg-null mice had decreased fertility and abnormal gonadal histology. Thus, disruption of the Fancg gene confirmed the role of Fancg in the Fanconi anemia pathway. The authors suggested that this mouse model may be useful for experiments in gene therapy and cancer susceptibility. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11719385" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By targeted disruption, <a href="#8" class="mim-tip-reference" title="Koomen, M., Cheng, N. C., van de Vrugt, H. J., Godthelp, B. C., van der Valk, M. A., Oostra, A. B., Zdzienicka, M. Z., Joenje, H., Arwert, F. <strong>Reduced fertility and hypersensitivity to mitomycin C characterize Fancg/Xrcc9 null mice.</strong> Hum. Molec. Genet. 11: 273-281, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11823446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11823446</a>] [<a href="https://doi.org/10.1093/hmg/11.3.273" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11823446">Koomen et al. (2002)</a> generated Fancg/Xrcc9-null mice. Fancg knockout mice were born at expected Mendelian frequencies, showed normal viability and development, and did not show a pronounced incidence of malignancies. During a 1 year follow-up, blood cell parameters of Fancg knockout mice remained within normal values, revealing no signs of anemia. Male and female mice deficient in Fancg showed hypogonadism and impaired fertility, consistent with the phenotype of Fanconi anemia patients. Mouse embryonic fibroblasts (MEFs) from the knockout animals exhibited the Fanconi anemia characteristic cellular response in showing enhanced spontaneous chromosomal instability and hyper-responsiveness to MMC. Despite a lack of hematopoietic failure in the knockout mice, clonogenic survival of bone marrow cells in vitro was strongly reduced in the presence of MMC. The characteristics of the Fancg -/- mice closely resemble those reported for Fancc- and Fanca-null mice, supporting a tight interdependence of the corresponding gene products in a common pathway. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11823446" 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="#13" class="mim-tip-reference" title="Pulliam-Leath, A. C., Ciccone, S. L., Nalepa, G., Li, X., Si, Y., Miravalle, L., Smith, D., Yuan, J., Li, J., Anur, P., Orazi, A., Vance, G. H., Yang, F.-C., Hanenberg, H., Bagby, G. C., Clapp, D. W. <strong>Genetic disruption of both Fancc and Fancg in mice recapitulates the hematopoietic manifestations of Fanconi anemia.</strong> Blood 116: 2915-2920, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20606166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20606166</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20606166[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/10.1182/blood-2009-08-240747" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20606166">Pulliam-Leath et al. (2010)</a> found that Fancc -/-;Fancg -/- double-mutant mice developed spontaneous hematologic sequelae, including bone marrow failure, acute myeloid leukemia, myelodysplasia, and complex random chromosomal abnormalities, that Fancc -/- mice or Fancg -/- mice did not develop. Studies on cells derived from single-mutant mice showed that loss of Fancg resulted in a more severe defect in multiple hematopoietic compartments than loss of Fancc, suggesting that the 2 genes have nonoverlapping roles in hematopoiesis. However, both single- and double-mutant cells showed similar sensitivity to a DNA crosslinking agent. The phenotype of the double-mutant mice was most consistent with that of human patients with Fanconi anemia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20606166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<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> rs121434425 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434425;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/rs121434425?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=rs121434425" 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=rs121434425" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a German patient with Fanconi anemia of complementation group G (FANCG; <a href="/entry/614082">614082</a>), <a href="#2" class="mim-tip-reference" title="de Winter, J. P., Waisfisz, Q., Rooimans, M. A., van Berkel, C. G. M., Bosnoyan-Collins, L., Alon, N., Carreau, M., Bender, O., Demuth, I., Schindler, D., Pronk, J. C., Arwert, F., Hoehn, H., Digweed, M., Buchwald, M., Joenje, H. <strong>The Fanconi anaemia group G gene FANCG is identical with XRCC9.</strong> Nature Genet. 20: 281-283, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9806548/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9806548</a>] [<a href="https://doi.org/10.1038/3093" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9806548">de Winter et al. (1998)</a> identified a 313G-T homozygous transversion in the XRCC9 gene, predicted to result in a change of codon 105 from glutamic acid to stop. The parents and unaffected brother were heterozygous for this mutation of the XRCC9 gene. The same mutation was present in one allele in 2 other compound heterozygous cases. All 3 of these patients were of German ancestry, suggesting that the mutation was inherited from a common ancestor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9806548" 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 9 German FANCG patients, <a href="#3" class="mim-tip-reference" title="Demuth, I., Wlodarski, M., Tipping, A. J., Morgan, N. V., de Winter, J. P., Thiel, M., Grasl, S., Schindler, D., D'Andrea, A. D., Altay, C., Kayserili, H., Zatterdale, A., Kunze, J., Ebell, W., Mathew, C. G., Joenje, H., Sperling, K., Digweed, M. <strong>Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9.</strong> Europ. J. Hum. Genet. 8: 861-868, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11093276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11093276</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200552" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11093276">Demuth et al. (2000)</a> detected the 313G-T transversion in 8 of 18 (44%) mutated alleles. Analysis of linked microsatellite markers indicated a common ancestral haplotype on which the mutation occurred. Despite the lack of a clear genotype-phenotype correlation in FANCG patients, the 2 patients homozygous for the 313G-T transversion showed a relatively early onset of the hematologic disorder at 1.4 and 2.4 years in comparison with an average of 6.1 years for the group of 23 FANCG patients studied as a whole. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11093276" 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 2 sibs with Fanconi anemia (FANCG; <a href="/entry/614082">614082</a>) in a consanguineous Lebanese family, <a href="#2" class="mim-tip-reference" title="de Winter, J. P., Waisfisz, Q., Rooimans, M. A., van Berkel, C. G. M., Bosnoyan-Collins, L., Alon, N., Carreau, M., Bender, O., Demuth, I., Schindler, D., Pronk, J. C., Arwert, F., Hoehn, H., Digweed, M., Buchwald, M., Joenje, H. <strong>The Fanconi anaemia group G gene FANCG is identical with XRCC9.</strong> Nature Genet. 20: 281-283, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9806548/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9806548</a>] [<a href="https://doi.org/10.1038/3093" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9806548">de Winter et al. (1998)</a> identified homozygosity for a splice acceptor site mutation, IVS13AS-1G-C, in the XRCC9 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9806548" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient with Fanconi anemia of complementation group G (FANCG; <a href="/entry/614082">614082</a>), <a href="#19" class="mim-tip-reference" title="Yamada, T., Tachibana, A., Shimizu, T., Mugishima, H., Okubo, M., Sasaki, M. S. <strong>Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia.</strong> J. Hum. Genet. 45: 159-166, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10807541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10807541</a>] [<a href="https://doi.org/10.1007/s100380050203" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10807541">Yamada et al. (2000)</a> found a base substitution from G to C of the invariant GT dinucleotides at the splice donor site of intron 3, resulting in the skipping of exon 3, as well as the skipping of exons 3 and 4, in 2 alternatively spliced transcripts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10807541" 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> rs121434426 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121434426;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/rs121434426?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=rs121434426" 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=rs121434426" 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=RCV000007107 OR RCV000791560" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007107, RCV000791560" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007107...</a>
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<p>In a Japanese patient with Fanconi anemia of complementation group G (FANCG; <a href="/entry/614082">614082</a>), <a href="#19" class="mim-tip-reference" title="Yamada, T., Tachibana, A., Shimizu, T., Mugishima, H., Okubo, M., Sasaki, M. S. <strong>Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia.</strong> J. Hum. Genet. 45: 159-166, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10807541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10807541</a>] [<a href="https://doi.org/10.1007/s100380050203" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10807541">Yamada et al. (2000)</a> found a base substitution from C to T in exon 8, creating a nonsense codon (gln356 to ter; Q356X). This mutation resulted in the exclusion of the sequence of 18 nucleotides containing the mutation from the mRNA, without affecting the splicing potential of either the authentic or the cryptic splice donor site. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10807541" 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">rs397507561 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397507561;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=rs397507561" 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=rs397507561" 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=RCV000007108" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007108" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007108</a>
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<p>In an analysis of cases in the International Fanconi Anemia Registry, <a href="#1" class="mim-tip-reference" title="Auerbach, A. D., Greenbaum, J., Pujara, K., Batish, S. D., Bitencourt, M. A., Kokemohr, I., Schneider, H., Lobitz, S., Pasquini, R., Giampietro, P. F., Hanenberg, H., Levran, O. <strong>Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study.</strong> Hum. Mutat. 21: 158-168, 2003. Note: Erratum: Hum. Mutat. 22: 255 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12552564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12552564</a>] [<a href="https://doi.org/10.1002/humu.10166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12552564">Auerbach et al. (2003)</a> reported 7 Portuguese-Brazilian probands with Fanconi anemia of complementation group G (FANCG; <a href="/entry/614082">614082</a>) who had an IVS8AS-2A-G mutation in the FANCG gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12552564" 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> rs149616199 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs149616199;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/rs149616199?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=rs149616199" 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=rs149616199" 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=RCV000007109 OR RCV000630837 OR RCV001564939 OR RCV004748504" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007109, RCV000630837, RCV001564939, RCV004748504" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007109...</a>
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<p>In an analysis of cases in the International Fanconi Anemia Registry, <a href="#1" class="mim-tip-reference" title="Auerbach, A. D., Greenbaum, J., Pujara, K., Batish, S. D., Bitencourt, M. A., Kokemohr, I., Schneider, H., Lobitz, S., Pasquini, R., Giampietro, P. F., Hanenberg, H., Levran, O. <strong>Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study.</strong> Hum. Mutat. 21: 158-168, 2003. Note: Erratum: Hum. Mutat. 22: 255 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12552564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12552564</a>] [<a href="https://doi.org/10.1002/humu.10166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12552564">Auerbach et al. (2003)</a> reported 7 French Acadian probands with Fanconi anemia of complementation group G (FANCG; <a href="/entry/614082">614082</a>) who had an IVS11DS+1G-C mutation in the FANCG gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12552564" 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">rs397507560 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs397507560;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=rs397507560" 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=rs397507560" 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=RCV000007110 OR RCV000700011 OR RCV002293408 OR RCV003904814" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007110, RCV000700011, RCV002293408, RCV003904814" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007110...</a>
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<p>In an analysis of cases in the International Fanconi Anemia Registry, <a href="#1" class="mim-tip-reference" title="Auerbach, A. D., Greenbaum, J., Pujara, K., Batish, S. D., Bitencourt, M. A., Kokemohr, I., Schneider, H., Lobitz, S., Pasquini, R., Giampietro, P. F., Hanenberg, H., Levran, O. <strong>Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study.</strong> Hum. Mutat. 21: 158-168, 2003. Note: Erratum: Hum. Mutat. 22: 255 only, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12552564/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12552564</a>] [<a href="https://doi.org/10.1002/humu.10166" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12552564">Auerbach et al. (2003)</a> reported 7 European probands with Fanconi anemia of complementation group G (FANCG; <a href="/entry/614082">614082</a>) who had a 10-bp deletion, 1794-1803del, in the FANCG gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12552564" 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> rs587776640 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776640;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/rs587776640?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=rs587776640" 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=rs587776640" 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=RCV000007111 OR RCV001057950 OR RCV002253196" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000007111, RCV001057950, RCV002253196" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000007111...</a>
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<p><a href="#12" class="mim-tip-reference" title="Morgan, N. V., Essop, F., Demuth, I., de Ravel, T., Jansen, S., Tischkowitz, M., Lewis, C. M., Wainwright, L., Poole, J., Joenje, H., Digweed, M., Krause, A., Mathew, C. G. <strong>A common Fanconi anemia mutation in black populations of sub-Saharan Africa.</strong> Blood 105: 3542-3544, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15657175/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15657175</a>] [<a href="https://doi.org/10.1182/blood-2004-10-3968" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15657175">Morgan et al. (2005)</a> found a 7-bp deletion in the FANCG gene as the basis of Fanconi anemia (FANCG; <a href="/entry/614082">614082</a>) in 33 (82.5%) of 40 patients (all except 2 being homozygotes) and in 64 of 80 mutant alleles (80%) in black populations of sub-Saharan Africa. Most mutation-carrying patients were from 4 tribes in South Africa, but 5 were from other areas, and the same mutation had been independently detected in a Portuguese FA patient who was homozygous for the deletion and whose parents originated from the black population of Mozambique, formerly a Portuguese colony. These diverse geographic and tribal origins suggested that the mutation predated the arrival of Bantu speakers in Southern Africa around 400 A.D. (<a href="#17" class="mim-tip-reference" title="Weber, W., Nash, D. J., Motulsky, A. G., Henneberg, M., Crawford, M. H., Martin, S. K., Goldsmid, J. M., Spedini, G., Glidewell, S., Schanfield, M. S. <strong>Phylogenetic relationships of human populations in sub-Saharan Africa.</strong> Hum. Biol. 72: 753-772, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11126723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11126723</a>]" pmid="11126723">Weber et al., 2000</a>). Detailed clinical information from 20 patients showed no significant difference in age of diagnosis, survival, or rates of AML and MDS in black FA-G patients compared to either European FA-G or all European FA groups. Black FA-G patients had a significantly higher frequency of distal radial ray abnormalities, growth retardation, and eye abnormalities than all European FA patients, but similar rates of such somatic abnormalities to European FA-G patients. <a href="#12" class="mim-tip-reference" title="Morgan, N. V., Essop, F., Demuth, I., de Ravel, T., Jansen, S., Tischkowitz, M., Lewis, C. M., Wainwright, L., Poole, J., Joenje, H., Digweed, M., Krause, A., Mathew, C. G. <strong>A common Fanconi anemia mutation in black populations of sub-Saharan Africa.</strong> Blood 105: 3542-3544, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15657175/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15657175</a>] [<a href="https://doi.org/10.1182/blood-2004-10-3968" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15657175">Morgan et al. (2005)</a> suggested that the high carrier frequency of the deletion in the black South African population indicated that Fanconi anemia is much more common than previously estimated and may be underdiagnosed in Africa. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11126723+15657175" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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[<a href="https://doi.org/10.1038/3093" target="_blank">Full Text</a>]
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Demuth, I., Wlodarski, M., Tipping, A. J., Morgan, N. V., de Winter, J. P., Thiel, M., Grasl, S., Schindler, D., D'Andrea, A. D., Altay, C., Kayserili, H., Zatterdale, A., Kunze, J., Ebell, W., Mathew, C. G., Joenje, H., Sperling, K., Digweed, M.
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<strong>Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9.</strong>
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[<a href="https://doi.org/10.1038/sj.ejhg.5200552" target="_blank">Full Text</a>]
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<a id="Donahue2002" class="mim-anchor"></a>
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<strong>A DNA double strand break repair defect in Fanconi anemia fibroblasts.</strong>
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[<a href="https://doi.org/10.1074/jbc.M207937200" target="_blank">Full Text</a>]
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<a id="Futaki2001" class="mim-anchor"></a>
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Futaki, M., Watanabe, S., Kajigaya, S., Liu, J. M.
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<strong>Fanconi anemia protein, FANCG, is a phosphoprotein and is upregulated with FANCA after TNF-alpha treatment.</strong>
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[<a href="https://doi.org/10.1006/bbrc.2001.4359" target="_blank">Full Text</a>]
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<strong>Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex.</strong>
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[<a href="https://doi.org/10.1128/MCB.19.7.4866" target="_blank">Full Text</a>]
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<strong>Direct interaction of the Fanconi anaemia protein FANCG with BRCA2/FANCD1.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12915460/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12915460</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12915460" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/ddg266" target="_blank">Full Text</a>]
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Koomen, M., Cheng, N. C., van de Vrugt, H. J., Godthelp, B. C., van der Valk, M. A., Oostra, A. B., Zdzienicka, M. Z., Joenje, H., Arwert, F.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11823446/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11823446</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11823446" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/11.3.273" target="_blank">Full Text</a>]
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Kuang, Y., Garcia-Higuera, I., Moran, A., Mondoux, M., Digweed, M., D'Andrea, A. D.
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<strong>Carboxy terminal region of the Fanconi anemia protein, FANCG/XRCC9, is required for functional activity.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10961856/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10961856</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10961856" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.94.17.9232" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12724401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12724401</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12724401[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=12724401" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1128/MCB.23.10.3417-3426.2003" target="_blank">Full Text</a>]
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<a id="Morgan2005" class="mim-anchor"></a>
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Morgan, N. V., Essop, F., Demuth, I., de Ravel, T., Jansen, S., Tischkowitz, M., Lewis, C. M., Wainwright, L., Poole, J., Joenje, H., Digweed, M., Krause, A., Mathew, C. G.
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[<a href="https://doi.org/10.1182/blood-2004-10-3968" target="_blank">Full Text</a>]
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<a id="Pulliam-Leath2010" class="mim-anchor"></a>
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<div class="">
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Pulliam-Leath, A. C., Ciccone, S. L., Nalepa, G., Li, X., Si, Y., Miravalle, L., Smith, D., Yuan, J., Li, J., Anur, P., Orazi, A., Vance, G. H., Yang, F.-C., Hanenberg, H., Bagby, G. C., Clapp, D. W.
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<strong>Genetic disruption of both Fancc and Fancg in mice recapitulates the hematopoietic manifestations of Fanconi anemia.</strong>
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[<a href="https://doi.org/10.1182/blood-2009-08-240747" target="_blank">Full Text</a>]
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<a id="Qiao2004" class="mim-anchor"></a>
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<div class="">
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<strong>Phosphorylation of Fanconi anemia (FA) complementation group G protein, FANCG, at serine 7 is important for function of the FA pathway.</strong>
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[<a href="https://doi.org/10.1074/jbc.M408323200" target="_blank">Full Text</a>]
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<a id="Saar1998" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1038/sj.ejhg.5200241" target="_blank">Full Text</a>]
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<a id="Tremblay2008" class="mim-anchor"></a>
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<div class="">
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<strong>HES1 is a novel interactor of the Fanconi anemia core complex.</strong>
|
|
Blood 112: 2062-2070, 2008. Note: Erratum: Blood 114: 3974 only, 2009.
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|
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18550849/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18550849</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18550849[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=18550849" 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/10.1182/blood-2008-04-152710" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="17" class="mim-anchor"></a>
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<a id="Weber2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
|
|
Weber, W., Nash, D. J., Motulsky, A. G., Henneberg, M., Crawford, M. H., Martin, S. K., Goldsmid, J. M., Spedini, G., Glidewell, S., Schanfield, M. S.
|
|
<strong>Phylogenetic relationships of human populations in sub-Saharan Africa.</strong>
|
|
Hum. Biol. 72: 753-772, 2000.
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11126723/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11126723</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11126723" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="18" class="mim-anchor"></a>
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<a id="Wilson2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wilson, J. B., Yamamoto, K., Marriott, A. S., Hussain, S., Sung, P., Hoatlin, M. E., Mathew, C. G., Takata, M., Thompson, L. H., Kupfer, G. M., Jones, N. J.
|
|
<strong>FANCG promotes formation of a newly identified protein complex containing BRCA2, FANCD2 and XRCC3.</strong>
|
|
Oncogene 27: 3641-3652, 2008.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18212739/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18212739</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18212739" 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.onc.1211034" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="19" class="mim-anchor"></a>
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<a id="Yamada2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yamada, T., Tachibana, A., Shimizu, T., Mugishima, H., Okubo, M., Sasaki, M. S.
|
|
<strong>Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia.</strong>
|
|
J. Hum. Genet. 45: 159-166, 2000.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10807541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10807541</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10807541" 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/s100380050203" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="20" class="mim-anchor"></a>
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<a id="Yamamoto2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yamamoto, K., Ishiai, M., Matsushita, N., Arakawa, H., Lamerdin, J. E., Buerstedde, J.-M., Tanimoto, M., Harada, M., Thompson, L. H., Takata, M.
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<strong>Fanconi anemia FANCG protein in mitigating radiation- and enzyme-induced DNA double-strand breaks by homologous recombination in vertebrate cells.</strong>
|
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Molec. Cell. Biol. 23: 5421-5430, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12861027/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12861027</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12861027[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=12861027" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1128/MCB.23.15.5421-5430.2003" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="21" class="mim-anchor"></a>
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<a id="Yang2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yang, Y., Kuang, Y., Montes De Oca, R., Hays, T., Moreau, L., Lu, N., Seed, B., D'Andrea, A. D.
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<strong>Targeted disruption of the murine Fanconi anemia gene, Fancg/Xrcc9.</strong>
|
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Blood 98: 3435-3440, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11719385/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11719385</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11719385" 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/10.1182/blood.v98.12.3435" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="22" class="mim-anchor"></a>
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<a id="Zhang2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhang, X., Li, J., Sejas, D. P., Rathbun, K. R., Bagby, G. C., Pang, Q.
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<strong>The Fanconi anemia proteins functionally interact with the protein kinase regulated by RNA (PKR).</strong>
|
|
J. Biol. Chem. 279: 43910-43919, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15299030/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15299030</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15299030" 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/10.1074/jbc.M403884200" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 6/13/2011
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 8/28/2009<br>Patricia A. Hartz - updated : 7/14/2009<br>George E. Tiller - updated : 9/12/2005<br>Victor A. McKusick - updated : 6/24/2005<br>Patricia A. Hartz - updated : 1/18/2005<br>Patricia A. Hartz - updated : 1/5/2005<br>Cassandra L. Kniffin - updated : 12/16/2004<br>Victor A. McKusick - updated : 3/6/2003<br>Patricia A. Hartz - updated : 1/6/2003<br>George E. Tiller - updated : 9/19/2002<br>Victor A. McKusick - updated : 6/4/2002<br>Ada Hamosh - updated : 4/20/2001<br>Michael B. Petersen - updated : 2/13/2001<br>Victor A. McKusick - updated : 1/10/2001<br>Victor A. McKusick - updated : 6/12/2000<br>Victor A. McKusick - updated : 1/26/1999
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Sheryl A. Jankowski : 8/10/1998
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 03/05/2021
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 04/19/2019<br>carol : 08/09/2018<br>terry : 04/04/2013<br>carol : 3/20/2013<br>terry : 5/29/2012<br>terry : 1/27/2012<br>terry : 7/12/2011<br>terry : 7/12/2011<br>carol : 7/11/2011<br>wwang : 6/24/2011<br>wwang : 6/24/2011<br>ckniffin : 6/13/2011<br>mgross : 10/14/2009<br>terry : 8/28/2009<br>mgross : 7/15/2009<br>terry : 7/14/2009<br>alopez : 10/20/2005<br>terry : 9/12/2005<br>alopez : 6/27/2005<br>terry : 6/24/2005<br>mgross : 1/18/2005<br>mgross : 1/10/2005<br>terry : 1/5/2005<br>ckniffin : 12/16/2004<br>alopez : 3/17/2004<br>tkritzer : 3/24/2003<br>tkritzer : 3/12/2003<br>terry : 3/6/2003<br>ckniffin : 1/24/2003<br>cwells : 1/24/2003<br>terry : 1/6/2003<br>carol : 12/26/2002<br>cwells : 9/19/2002<br>alopez : 6/12/2002<br>terry : 6/4/2002<br>alopez : 4/30/2001<br>terry : 4/20/2001<br>cwells : 2/13/2001<br>cwells : 2/13/2001<br>cwells : 1/17/2001<br>terry : 1/10/2001<br>mcapotos : 6/28/2000<br>mcapotos : 6/27/2000<br>terry : 6/12/2000<br>carol : 6/4/1999<br>carol : 6/3/1999<br>carol : 1/28/1999<br>carol : 1/27/1999<br>terry : 1/26/1999<br>carol : 8/10/1998
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 602956
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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FANCG GENE; FANCG
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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X-RAY REPAIR CROSS COMPLEMENTING 9; XRCC9<br />
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X-RAY REPAIR, COMPLEMENTING DEFECTIVE, IN CHINESE HAMSTER, 9; XRCC9
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: FANCG</em></strong>
|
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: 9p13.3
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|
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Genomic coordinates <span class="small">(GRCh38)</span> : 9:35,073,839-35,079,942 </span>
|
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</em>
|
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</strong>
|
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<span class="small">(from NCBI)</span>
|
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
|
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
|
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
|
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Phenotype <br /> MIM number
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</th>
|
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
|
9p13.3
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
|
Fanconi anemia, complementation group G
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
614082
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Autosomal recessive
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
3
|
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</span>
|
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>TEXT</strong>
|
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</span>
|
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</h4>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Cloning and Expression</strong>
|
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</span>
|
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</h4>
|
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</div>
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<span class="mim-text-font">
|
|
<p>Rodent cell lines that are hypersensitive to ionizing radiation have been assigned to at least 8 complementation groups, and human genes that correct these mutants have been given an XRCC designation. The Chinese hamster ovary (CHO) cell line UV40 exhibits hypersensitivity not only to ionizing radiation but also to UV radiation, simple alkylating agents, and DNA crosslinking agents. It also shows pronounced spontaneous chromosomal instability and an elevated level of sister chromatid exchange (SCE). By functional complementation of UV40 cells, Liu et al. (1997) cloned a cDNA, termed XRCC9, that confers resistance to both hygromycin and mitomycin C. XRCC9 contains a 5-prime GC-rich untranslated region characteristic of housekeeping genes. The putative 622-amino acid protein has a leucine zipper motif at its N terminus, but the authors found no significant similarity to any known protein. By Northern blot analysis, a 2.5-kb XRCC9 mRNA band was present in HeLa and AA8 cells but not in UV cells. In human and baboon tissues, 2 major mRNA bands of 2.2 and 2.5 kb were detected, with highest levels in testis and thymus in human, and in testis in baboon. </p>
|
|
</span>
|
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<div>
|
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<br />
|
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By differential cytotoxicity assay, Liu et al. (1997) found that XRCC9 partially corrected mutagen sensitivity and chromosomal instability in UV40 cells, but did not reduce SCE compared to the parental wildtype cell line AA8. </p><p>Garcia-Higuera et al. (1999) determined that FANCG is required for binding between FANCA (607139) and FANCC (613899) and that all 3 proteins are components of a nuclear protein complex. The N-terminal nuclear localization signal of FANCA was required for FANCG binding, FANCC binding, and for complementation of mitomycin C sensitivity in FAA lymphocytes, as well as for nuclear localization. Analysis of the protein interactions formed by lymphoblasts from each of the complementation groups suggested that the interaction between FANCA and FANCG is constitutive and is not regulated by FANCC or by the products of other FA genes. In contrast, the binding of FANCC required FANCA/FANCG binding and the products of other FA genes. </p><p>Kuang et al. (2000) demonstrated that the N-terminal two-thirds of FANCG (amino acids 1-428) binds to the N-terminal nuclear localization signal of the FANCA protein. On the basis of 2-hybrid analysis, the FANCA/FANCG binding was shown to be a direct protein-protein interaction. A truncated mutant form of FANCG, lacking the carboxy terminus, bound in a complex with FANCA and translocated to the nucleus; however, this mutant protein failed to bind to FANCC and failed to correct the mitomycin C sensitivity of the group G Fanconi anemia cell line. Taken together, these results demonstrated that binding of FANCG to the N-terminal FANCA nuclear localization signal (NLS) is necessary but not sufficient for the functional activity of FANCG. </p><p>Futaki et al. (2001) examined the effects of tumor necrosis factor-alpha (TNFA; 191160) on the regulation of Fanconi anemia complementation group proteins FANCG and FANCA. Futaki et al. (2001) found that treatment with TNFA induced FANCG protein expression. FANCA was induced concurrently with FANCG, and the FANCA/FANCG complex was increased in the nucleus following TNFA treatment. Inactivation of inhibitory kappa B kinase-2 (IKK2; 603258) modulated the expression of FANCG. Futaki et al. (2001) also found that both nuclear and cytoplasmic FANCG fractions were phosphorylated. They concluded that FANCG is a phosphoprotein and suggested that the cellular accumulation of FA proteins is subject to regulation by TNFA signaling. </p><p>Donahue and Campbell (2002) found that fibroblasts from FA patients from complementation groups A, C, D2, and G were hypersensitive to restriction enzyme-induced cell death following electroporation of restriction enzymes. These fibroblasts also showed reduced efficiency in plasmid end-joining activity. Normal sensitivity and activity were restored following retrovirus-mediated expression of the respective FA cDNAs. </p><p>Zhang et al. (2004) used immunoprecipitation and reconstituted kinase assays to show that the FANCC, FANCA, and FANCG proteins functionally interacted with and inhibited the proapoptotic kinase PKR, a kinase that represses translation when activated. PKR showed strongest binding to the FANCC protein. PKR activity was increased in bone marrow cells of patients with Fanconi anemia with mutations in the FANCC, FANCA, and FANCG genes. All 3 of these cell lines showed significant increases in PKR bound to the FANCC protein, which correlated with increased PKR activation. The cells also showed hypersensitivity to growth repression mediated by IFN-gamma (147570) and TNF-alpha. Forced expression of a patient-derived FANCC mutation increased PKR activation and cell death. Zhang et al. (2004) concluded that FA mutations cause increased binding of PKR to FANCC and increased PKR activation, leading to growth inhibition of hematopoietic progenitors and bone marrow failure in Fanconi anemia. </p><p>In order to elucidate the role of Fancg in homologous recombination, Yamamoto et al. (2003) disrupted the Fancg locus in a chicken B-cell line. Fancg-deficient cells resembled mammalian Fancg mutants in that they were sensitive to killing by the genotoxic agents cisplatin and mitomycin C (MMC) and they exhibited increased MMC and radiation-induced chromosome breakage. The repair of restriction enzyme-induced chromosomal double-strand breaks by homologous recombination was decreased about 9-fold in mutant cells compared with parental and FANCG-complemented cells. Yamamoto et al. (2003) concluded that FANCG is required for efficient homologous recombination-mediated repair of at least some types of double-strand breaks. </p><p>By coimmunoprecipitation of HeLa cell nuclear extracts, Meetei et al. (2003) identified 3 distinct multiprotein complexes associated with BLM (RECQL3; 604610). One of the complexes, designated BRAFT, contained the Fanconi anemia core complementation group proteins FANCA (607139), FANCG, FANCC (613899), FANCE (613976), and FANCF (613897), as well as topoisomerase III-alpha (TOP3A; 601243) and replication protein A (RPA; see 179835). BLM complexes isolated from an FA cell line had a lower molecular mass, likely due to loss of FANCA and other FA components. BLM- and FANCA-associated complexes had DNA unwinding activity, and BLM was required for this activity. </p><p>Hussain et al. (2003) found that FANCG was capable of binding to 2 separate sites in the BRCA2 protein (600185) (mutations in which cause FANCD1, 605724), located on either side of the BRC repeats. Furthermore, FANCG could be coimmunoprecipitated with BRCA2 from human cells, and FANCG colocalized in nuclear foci with both BRCA2 and RAD51 (179617) following DNA damage with mitomycin C. The authors concluded that BRCA2 is directly connected to a pathway deficient in interstrand crosslink repair, and that at least one other FA protein is closely associated with the homologous recombination DNA repair machinery. </p><p>Qiao et al. (2004) found that ser7 was phosphorylated in endogenous HeLa cell FANCG. By site-directed mutagenesis, they mutated ser7 to alanine (S7A) and found that only wildtype FANCG fully complemented human and hamster FA-G mutant cells. FANCG(S7A) bound to and stabilized the endogenous forms of the FANCA and FANCC proteins in FA-G cells. FANCG(S7A) aberrantly localized to globules in chromatin and did not abrogate the internuclear bridges seen in FA-G mutant cells. </p><p>BRCA2 and FANCD2 (613984) are not part of the core FA complex, but BRCA2-FANCD2 interaction is required for homologous recombination repair. Wilson et al. (2008) found that FANCG was required for interaction of BRCA2 with FANCD2. Moreover, phosphorylation of FANCG at ser7 was required for interaction of FANCG with BRCA2 and XRCC3 (600675) and for multiple pairwise interactions among FANCG, BRCA2, FANCD2, and XRCC3. Wilson et al. (2008) concluded that a complex made up of at least these 4 proteins promotes homologous recombination repair of damaged DNA. </p><p>Using yeast 2-hybrid and coimmunoprecipitation assays, Tremblay et al. (2008) found that HES1 (139605), a NOTCH1 (190198) pathway component involved in hematopoietic stem cell (HSC) self-renewal, interacted directly with FANCA, FANCF, FANCG, and FANCL (PHF9; 608111), but not with other FA core complex components. Mutation analysis showed that interactions with individual FA core components required different domains within HES1. HES1 did not interact with FA core components if any of them contained an FA-related mutation, suggesting that a functional FA pathway is required for HES1 interaction. Depletion of HES1 from HeLa cells resulted in failure of normal interactions between individual FA core components, as well as altered protein levels and mislocalization of some FA core components. Depletion of HES1 also increased cell sensitivity to MMC and reduced MMC-induced monoubiquitination of FANCD2 and localization of FANCD2 to MMC-induced foci. Tremblay et al. (2008) concluded that interaction with HES1 is required for normal FA core complex function in the DNA damage response. They proposed that the HSC defect in FA may result from the inability of HES1 to interact with the defective FA core complex. </p>
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</span>
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<div>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By fluorescence in situ hybridization, Liu et al. (1997) mapped the XRCC9 gene to human chromosome 9p13. </p><p>Saar et al. (1998) mapped the FANCG gene, which is responsible for complementation group G (614082), to 9p, using homozygosity mapping in a large consanguineous family. The FANCG gene was shown by de Winter et al. (1998) to be identical to the XRCC9 gene, which had been localized to 9p13. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In patients with Fanconi anemia of complementation group G (FANCG; 614082), de Winter et al. (1998) identified mutations in the XRCC9 (FANCG) gene (602956.0001-602956.0002). </p><p>Yamada et al. (2000) identified 2 novel mutations (602956.0003, 602956.0004) of the FANCG gene, causing aberrant RNA splicing, in 2 FA patients. Altogether, 14 of 20 unclassified Japanese FA patients belonged to the FA-A group (FANCA; 227650), the 2 patients studied belonged to the FA-G group, and none belonged to the FA-C group (FANCC; 227645). </p><p>Demuth et al. (2000) identified 18 different mutations in the FANCG gene in a panel of 20 FANCG patients, 4 of which had been reported by de Winter et al. (1998). By using SSCP analysis and sequencing, they identified 39 of 40 mutant alleles. Most of the mutations (94%) were expected to result in protein truncation, and only 1 missense mutation was detected. The 18 mutations showed no obvious clustering within the gene. </p><p>Auerbach et al. (2003) studied the distribution of FANCG mutations in the populations covered by the International Fanconi Anemia Registry. They found the most common FANCG mutations were IVS8-2A-G (602956.0005), seen in 7 Portuguese-Brazilian probands; IVS11+1G-C (602956.0006), seen in 7 French-Acadian probands; 1794-1803del10 (602956.0007), seen in 7 European probands; and IVS3+1G-C (602956.0003), seen in 5 Korean or Japanese probands. Auerbach et al. (2003) suggested that the Portuguese-Brazilian, French Acadian, and Korean/Japanese mutations were present in a founding member of each of these populations. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>To further understand the in vivo role of the FANCG gene, Yang et al. (2001) generated a targeted disruption of murine Fancg and bred mice homozygous for the targeted allele. Similar to the phenotype of the previously described Fancc-null (613899) and Fanca-null (607139) mice, the Fancg-null mice had normal viability and no gross developmental abnormalities. Primary splenic lymphocytes, bone marrow progenitor cells, and murine embryo fibroblasts from Fancg-null mice demonstrated spontaneous chromosome breakage and increased sensitivity to mitomycin C and, to a lesser extent, ionizing radiation. Fancg-null lymphocytes had a defect in the Fanconi anemia pathway, demonstrated by their failure to activate the monoubiquitination of the downstream Fancd2 protein in response to ionizing radiation. Finally, Fancg-null mice had decreased fertility and abnormal gonadal histology. Thus, disruption of the Fancg gene confirmed the role of Fancg in the Fanconi anemia pathway. The authors suggested that this mouse model may be useful for experiments in gene therapy and cancer susceptibility. </p><p>By targeted disruption, Koomen et al. (2002) generated Fancg/Xrcc9-null mice. Fancg knockout mice were born at expected Mendelian frequencies, showed normal viability and development, and did not show a pronounced incidence of malignancies. During a 1 year follow-up, blood cell parameters of Fancg knockout mice remained within normal values, revealing no signs of anemia. Male and female mice deficient in Fancg showed hypogonadism and impaired fertility, consistent with the phenotype of Fanconi anemia patients. Mouse embryonic fibroblasts (MEFs) from the knockout animals exhibited the Fanconi anemia characteristic cellular response in showing enhanced spontaneous chromosomal instability and hyper-responsiveness to MMC. Despite a lack of hematopoietic failure in the knockout mice, clonogenic survival of bone marrow cells in vitro was strongly reduced in the presence of MMC. The characteristics of the Fancg -/- mice closely resemble those reported for Fancc- and Fanca-null mice, supporting a tight interdependence of the corresponding gene products in a common pathway. </p><p>Pulliam-Leath et al. (2010) found that Fancc -/-;Fancg -/- double-mutant mice developed spontaneous hematologic sequelae, including bone marrow failure, acute myeloid leukemia, myelodysplasia, and complex random chromosomal abnormalities, that Fancc -/- mice or Fancg -/- mice did not develop. Studies on cells derived from single-mutant mice showed that loss of Fancg resulted in a more severe defect in multiple hematopoietic compartments than loss of Fancc, suggesting that the 2 genes have nonoverlapping roles in hematopoiesis. However, both single- and double-mutant cells showed similar sensitivity to a DNA crosslinking agent. The phenotype of the double-mutant mice was most consistent with that of human patients with Fanconi anemia. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>8 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 FANCONI ANEMIA, COMPLEMENTATION GROUP G</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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FANCG, GLU105TER
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<br />
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SNP: rs121434425,
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gnomAD: rs121434425,
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ClinVar: RCV000007104, RCV000706520, RCV001091823
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a German patient with Fanconi anemia of complementation group G (FANCG; 614082), de Winter et al. (1998) identified a 313G-T homozygous transversion in the XRCC9 gene, predicted to result in a change of codon 105 from glutamic acid to stop. The parents and unaffected brother were heterozygous for this mutation of the XRCC9 gene. The same mutation was present in one allele in 2 other compound heterozygous cases. All 3 of these patients were of German ancestry, suggesting that the mutation was inherited from a common ancestor. </p><p>In 9 German FANCG patients, Demuth et al. (2000) detected the 313G-T transversion in 8 of 18 (44%) mutated alleles. Analysis of linked microsatellite markers indicated a common ancestral haplotype on which the mutation occurred. Despite the lack of a clear genotype-phenotype correlation in FANCG patients, the 2 patients homozygous for the 313G-T transversion showed a relatively early onset of the hematologic disorder at 1.4 and 2.4 years in comparison with an average of 6.1 years for the group of 23 FANCG patients studied as a whole. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 FANCONI ANEMIA, COMPLEMENTATION GROUP G</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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FANCG, IVS13, G-C, -1
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<br />
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SNP: rs1829035889,
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ClinVar: RCV001194976
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 sibs with Fanconi anemia (FANCG; 614082) in a consanguineous Lebanese family, de Winter et al. (1998) identified homozygosity for a splice acceptor site mutation, IVS13AS-1G-C, in the XRCC9 gene. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 FANCONI ANEMIA, COMPLEMENTATION GROUP G</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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FANCG, IVS3, G-C, +1
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<br />
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SNP: rs200479612,
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gnomAD: rs200479612,
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ClinVar: RCV000007106, RCV001037690
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with Fanconi anemia of complementation group G (FANCG; 614082), Yamada et al. (2000) found a base substitution from G to C of the invariant GT dinucleotides at the splice donor site of intron 3, resulting in the skipping of exon 3, as well as the skipping of exons 3 and 4, in 2 alternatively spliced transcripts. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 FANCONI ANEMIA, COMPLEMENTATION GROUP G</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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FANCG, GLN356TER
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<br />
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SNP: rs121434426,
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gnomAD: rs121434426,
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ClinVar: RCV000007107, RCV000791560
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a Japanese patient with Fanconi anemia of complementation group G (FANCG; 614082), Yamada et al. (2000) found a base substitution from C to T in exon 8, creating a nonsense codon (gln356 to ter; Q356X). This mutation resulted in the exclusion of the sequence of 18 nucleotides containing the mutation from the mRNA, without affecting the splicing potential of either the authentic or the cryptic splice donor site. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 FANCONI ANEMIA, COMPLEMENTATION GROUP G</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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FANCG, IVS8AS, A-G, -2
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<br />
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SNP: rs397507561,
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ClinVar: RCV000007108
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In an analysis of cases in the International Fanconi Anemia Registry, Auerbach et al. (2003) reported 7 Portuguese-Brazilian probands with Fanconi anemia of complementation group G (FANCG; 614082) who had an IVS8AS-2A-G mutation in the FANCG gene. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>.0006 FANCONI ANEMIA, COMPLEMENTATION GROUP G</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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FANCG, IVS11DS, G-C, +1
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<br />
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SNP: rs149616199,
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gnomAD: rs149616199,
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ClinVar: RCV000007109, RCV000630837, RCV001564939, RCV004748504
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In an analysis of cases in the International Fanconi Anemia Registry, Auerbach et al. (2003) reported 7 French Acadian probands with Fanconi anemia of complementation group G (FANCG; 614082) who had an IVS11DS+1G-C mutation in the FANCG gene. </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>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0007 FANCONI ANEMIA, COMPLEMENTATION GROUP G</strong>
|
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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FANCG, 10-BP DEL, NT1794
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<br />
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SNP: rs397507560,
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ClinVar: RCV000007110, RCV000700011, RCV002293408, RCV003904814
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In an analysis of cases in the International Fanconi Anemia Registry, Auerbach et al. (2003) reported 7 European probands with Fanconi anemia of complementation group G (FANCG; 614082) who had a 10-bp deletion, 1794-1803del, in the FANCG gene. </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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<h4>
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<span class="mim-font">
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<strong>.0008 FANCONI ANEMIA, COMPLEMENTATION GROUP G</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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FANCG, 7-BP DEL
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<br />
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SNP: rs587776640,
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gnomAD: rs587776640,
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ClinVar: RCV000007111, RCV001057950, RCV002253196
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</span>
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</div>
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<span class="mim-text-font">
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<p>Morgan et al. (2005) found a 7-bp deletion in the FANCG gene as the basis of Fanconi anemia (FANCG; 614082) in 33 (82.5%) of 40 patients (all except 2 being homozygotes) and in 64 of 80 mutant alleles (80%) in black populations of sub-Saharan Africa. Most mutation-carrying patients were from 4 tribes in South Africa, but 5 were from other areas, and the same mutation had been independently detected in a Portuguese FA patient who was homozygous for the deletion and whose parents originated from the black population of Mozambique, formerly a Portuguese colony. These diverse geographic and tribal origins suggested that the mutation predated the arrival of Bantu speakers in Southern Africa around 400 A.D. (Weber et al., 2000). Detailed clinical information from 20 patients showed no significant difference in age of diagnosis, survival, or rates of AML and MDS in black FA-G patients compared to either European FA-G or all European FA groups. Black FA-G patients had a significantly higher frequency of distal radial ray abnormalities, growth retardation, and eye abnormalities than all European FA patients, but similar rates of such somatic abnormalities to European FA-G patients. Morgan et al. (2005) suggested that the high carrier frequency of the deletion in the black South African population indicated that Fanconi anemia is much more common than previously estimated and may be underdiagnosed in Africa. </p>
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</span>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Auerbach, A. D., Greenbaum, J., Pujara, K., Batish, S. D., Bitencourt, M. A., Kokemohr, I., Schneider, H., Lobitz, S., Pasquini, R., Giampietro, P. F., Hanenberg, H., Levran, O.
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<strong>Spectrum of sequence variation in the FANCG gene: an International Fanconi Anemia Registry (IFAR) study.</strong>
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Hum. Mutat. 21: 158-168, 2003. Note: Erratum: Hum. Mutat. 22: 255 only, 2003.
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[PubMed: 12552564]
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[Full Text: https://doi.org/10.1002/humu.10166]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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de Winter, J. P., Waisfisz, Q., Rooimans, M. A., van Berkel, C. G. M., Bosnoyan-Collins, L., Alon, N., Carreau, M., Bender, O., Demuth, I., Schindler, D., Pronk, J. C., Arwert, F., Hoehn, H., Digweed, M., Buchwald, M., Joenje, H.
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<strong>The Fanconi anaemia group G gene FANCG is identical with XRCC9.</strong>
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Nature Genet. 20: 281-283, 1998.
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[PubMed: 9806548]
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[Full Text: https://doi.org/10.1038/3093]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Demuth, I., Wlodarski, M., Tipping, A. J., Morgan, N. V., de Winter, J. P., Thiel, M., Grasl, S., Schindler, D., D'Andrea, A. D., Altay, C., Kayserili, H., Zatterdale, A., Kunze, J., Ebell, W., Mathew, C. G., Joenje, H., Sperling, K., Digweed, M.
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<strong>Spectrum of mutations in the Fanconi anaemia group G gene, FANCG/XRCC9.</strong>
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Europ. J. Hum. Genet. 8: 861-868, 2000.
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[PubMed: 11093276]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200552]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Donahue, S. L., Campbell, C.
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<strong>A DNA double strand break repair defect in Fanconi anemia fibroblasts.</strong>
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J. Biol. Chem. 277: 46243-46247, 2002.
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[PubMed: 12361951]
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[Full Text: https://doi.org/10.1074/jbc.M207937200]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Futaki, M., Watanabe, S., Kajigaya, S., Liu, J. M.
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<strong>Fanconi anemia protein, FANCG, is a phosphoprotein and is upregulated with FANCA after TNF-alpha treatment.</strong>
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Biochem. Biophys. Res. Commun. 281: 347-351, 2001.
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[PubMed: 11181053]
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[Full Text: https://doi.org/10.1006/bbrc.2001.4359]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Garcia-Higuera, I., Kuang, Y., Naf, D., Wasik, J., D'Andrea, A. D.
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<strong>Fanconi anemia proteins FANCA, FANCC, and FANCG/XRCC9 interact in a functional nuclear complex.</strong>
|
|
Molec. Cell. Biol. 19: 4866-4873, 1999.
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[PubMed: 10373536]
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[Full Text: https://doi.org/10.1128/MCB.19.7.4866]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Hussain, S., Witt, E., Huber, P. A. J., Medhurst, A. L., Ashworth, A., Mathew, C. G.
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<strong>Direct interaction of the Fanconi anaemia protein FANCG with BRCA2/FANCD1.</strong>
|
|
Hum. Molec. Genet. 12: 2503-2510, 2003.
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[PubMed: 12915460]
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[Full Text: https://doi.org/10.1093/hmg/ddg266]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Koomen, M., Cheng, N. C., van de Vrugt, H. J., Godthelp, B. C., van der Valk, M. A., Oostra, A. B., Zdzienicka, M. Z., Joenje, H., Arwert, F.
|
|
<strong>Reduced fertility and hypersensitivity to mitomycin C characterize Fancg/Xrcc9 null mice.</strong>
|
|
Hum. Molec. Genet. 11: 273-281, 2002.
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[PubMed: 11823446]
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[Full Text: https://doi.org/10.1093/hmg/11.3.273]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Kuang, Y., Garcia-Higuera, I., Moran, A., Mondoux, M., Digweed, M., D'Andrea, A. D.
|
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<strong>Carboxy terminal region of the Fanconi anemia protein, FANCG/XRCC9, is required for functional activity.</strong>
|
|
Blood 96: 1625-1632, 2000.
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|
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[PubMed: 10961856]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Liu, N., Lamerdin, J. E., Tucker, J. D., Zhou, Z.-Q., Walter, C. A., Albala, J. S., Busch, D. B., Thompson, L. H.
|
|
<strong>The human XRCC9 gene corrects chromosomal instability and mutagen sensitivities in CHO UV40 cells.</strong>
|
|
Proc. Nat. Acad. Sci. 94: 9232-9237, 1997.
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|
|
[PubMed: 9256465]
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[Full Text: https://doi.org/10.1073/pnas.94.17.9232]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Meetei, A. R., Sechi, S., Wallisch, M., Yang, D., Young, M. K., Joenje, H., Hoatlin, M. E., Wang, W.
|
|
<strong>A multiprotein nuclear complex connects Fanconi anemia and Bloom syndrome.</strong>
|
|
Molec. Cell. Biol. 23: 3417-3426, 2003.
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[PubMed: 12724401]
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[Full Text: https://doi.org/10.1128/MCB.23.10.3417-3426.2003]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Morgan, N. V., Essop, F., Demuth, I., de Ravel, T., Jansen, S., Tischkowitz, M., Lewis, C. M., Wainwright, L., Poole, J., Joenje, H., Digweed, M., Krause, A., Mathew, C. G.
|
|
<strong>A common Fanconi anemia mutation in black populations of sub-Saharan Africa.</strong>
|
|
Blood 105: 3542-3544, 2005.
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|
|
[PubMed: 15657175]
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[Full Text: https://doi.org/10.1182/blood-2004-10-3968]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Pulliam-Leath, A. C., Ciccone, S. L., Nalepa, G., Li, X., Si, Y., Miravalle, L., Smith, D., Yuan, J., Li, J., Anur, P., Orazi, A., Vance, G. H., Yang, F.-C., Hanenberg, H., Bagby, G. C., Clapp, D. W.
|
|
<strong>Genetic disruption of both Fancc and Fancg in mice recapitulates the hematopoietic manifestations of Fanconi anemia.</strong>
|
|
Blood 116: 2915-2920, 2010.
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[PubMed: 20606166]
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[Full Text: https://doi.org/10.1182/blood-2009-08-240747]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Qiao, F., Mi, J., Wilson, J. B., Zhi, G., Bucheimer, N. R., Jones, N. J., Kupfer, G. M.
|
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<strong>Phosphorylation of Fanconi anemia (FA) complementation group G protein, FANCG, at serine 7 is important for function of the FA pathway.</strong>
|
|
J. Biol. Chem. 279: 46035-46045, 2004.
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[PubMed: 15299017]
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[Full Text: https://doi.org/10.1074/jbc.M408323200]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Saar, K., Schindler, D., Wegner, R. D., Reis, A., Wienker, T. F., Hoehn, H., Joenje, H., Sperling, K., Digweed, M.
|
|
<strong>Localisation of a Fanconi anaemia gene to chromosome 9p.</strong>
|
|
Europ. J. Hum. Genet. 6: 501-508, 1998.
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[PubMed: 9801875]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5200241]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Tremblay, C. S., Huang, F. F., Habi, O., Huard, C. C., Godin, C., Levesque, G., Carreau, M.
|
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<strong>HES1 is a novel interactor of the Fanconi anemia core complex.</strong>
|
|
Blood 112: 2062-2070, 2008. Note: Erratum: Blood 114: 3974 only, 2009.
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[PubMed: 18550849]
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[Full Text: https://doi.org/10.1182/blood-2008-04-152710]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Weber, W., Nash, D. J., Motulsky, A. G., Henneberg, M., Crawford, M. H., Martin, S. K., Goldsmid, J. M., Spedini, G., Glidewell, S., Schanfield, M. S.
|
|
<strong>Phylogenetic relationships of human populations in sub-Saharan Africa.</strong>
|
|
Hum. Biol. 72: 753-772, 2000.
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[PubMed: 11126723]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Wilson, J. B., Yamamoto, K., Marriott, A. S., Hussain, S., Sung, P., Hoatlin, M. E., Mathew, C. G., Takata, M., Thompson, L. H., Kupfer, G. M., Jones, N. J.
|
|
<strong>FANCG promotes formation of a newly identified protein complex containing BRCA2, FANCD2 and XRCC3.</strong>
|
|
Oncogene 27: 3641-3652, 2008.
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[PubMed: 18212739]
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[Full Text: https://doi.org/10.1038/sj.onc.1211034]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Yamada, T., Tachibana, A., Shimizu, T., Mugishima, H., Okubo, M., Sasaki, M. S.
|
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<strong>Novel mutations of the FANCG gene causing alternative splicing in Japanese Fanconi anemia.</strong>
|
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J. Hum. Genet. 45: 159-166, 2000.
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[PubMed: 10807541]
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[Full Text: https://doi.org/10.1007/s100380050203]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Yamamoto, K., Ishiai, M., Matsushita, N., Arakawa, H., Lamerdin, J. E., Buerstedde, J.-M., Tanimoto, M., Harada, M., Thompson, L. H., Takata, M.
|
|
<strong>Fanconi anemia FANCG protein in mitigating radiation- and enzyme-induced DNA double-strand breaks by homologous recombination in vertebrate cells.</strong>
|
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Molec. Cell. Biol. 23: 5421-5430, 2003.
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[PubMed: 12861027]
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[Full Text: https://doi.org/10.1128/MCB.23.15.5421-5430.2003]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Yang, Y., Kuang, Y., Montes De Oca, R., Hays, T., Moreau, L., Lu, N., Seed, B., D'Andrea, A. D.
|
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<strong>Targeted disruption of the murine Fanconi anemia gene, Fancg/Xrcc9.</strong>
|
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Blood 98: 3435-3440, 2001.
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[PubMed: 11719385]
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[Full Text: https://doi.org/10.1182/blood.v98.12.3435]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
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Zhang, X., Li, J., Sejas, D. P., Rathbun, K. R., Bagby, G. C., Pang, Q.
|
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<strong>The Fanconi anemia proteins functionally interact with the protein kinase regulated by RNA (PKR).</strong>
|
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J. Biol. Chem. 279: 43910-43919, 2004.
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[PubMed: 15299030]
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[Full Text: https://doi.org/10.1074/jbc.M403884200]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 6/13/2011<br>Patricia A. Hartz - updated : 8/28/2009<br>Patricia A. Hartz - updated : 7/14/2009<br>George E. Tiller - updated : 9/12/2005<br>Victor A. McKusick - updated : 6/24/2005<br>Patricia A. Hartz - updated : 1/18/2005<br>Patricia A. Hartz - updated : 1/5/2005<br>Cassandra L. Kniffin - updated : 12/16/2004<br>Victor A. McKusick - updated : 3/6/2003<br>Patricia A. Hartz - updated : 1/6/2003<br>George E. Tiller - updated : 9/19/2002<br>Victor A. McKusick - updated : 6/4/2002<br>Ada Hamosh - updated : 4/20/2001<br>Michael B. Petersen - updated : 2/13/2001<br>Victor A. McKusick - updated : 1/10/2001<br>Victor A. McKusick - updated : 6/12/2000<br>Victor A. McKusick - updated : 1/26/1999
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</span>
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</div>
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</div>
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Sheryl A. Jankowski : 8/10/1998
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</span>
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<span class="text-nowrap mim-text-font">
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Edit History:
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carol : 03/05/2021<br>carol : 04/19/2019<br>carol : 08/09/2018<br>terry : 04/04/2013<br>carol : 3/20/2013<br>terry : 5/29/2012<br>terry : 1/27/2012<br>terry : 7/12/2011<br>terry : 7/12/2011<br>carol : 7/11/2011<br>wwang : 6/24/2011<br>wwang : 6/24/2011<br>ckniffin : 6/13/2011<br>mgross : 10/14/2009<br>terry : 8/28/2009<br>mgross : 7/15/2009<br>terry : 7/14/2009<br>alopez : 10/20/2005<br>terry : 9/12/2005<br>alopez : 6/27/2005<br>terry : 6/24/2005<br>mgross : 1/18/2005<br>mgross : 1/10/2005<br>terry : 1/5/2005<br>ckniffin : 12/16/2004<br>alopez : 3/17/2004<br>tkritzer : 3/24/2003<br>tkritzer : 3/12/2003<br>terry : 3/6/2003<br>ckniffin : 1/24/2003<br>cwells : 1/24/2003<br>terry : 1/6/2003<br>carol : 12/26/2002<br>cwells : 9/19/2002<br>alopez : 6/12/2002<br>terry : 6/4/2002<br>alopez : 4/30/2001<br>terry : 4/20/2001<br>cwells : 2/13/2001<br>cwells : 2/13/2001<br>cwells : 1/17/2001<br>terry : 1/10/2001<br>mcapotos : 6/28/2000<br>mcapotos : 6/27/2000<br>terry : 6/12/2000<br>carol : 6/4/1999<br>carol : 6/3/1999<br>carol : 1/28/1999<br>carol : 1/27/1999<br>terry : 1/26/1999<br>carol : 8/10/1998
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