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Entry
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- *600013 - TRANSCRIPTION FACTOR YY1; YY1
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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">*600013</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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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/600013">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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<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=ENSG00000100811;t=ENST00000262238" 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=7528" 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=600013" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000100811;t=ENST00000262238" 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_003403" 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_003403" 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=600013" 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=02482&isoform_id=02482_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/YY1" 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/38011,186768,189174,3915889,4507955,22713564,41223355,119602095,119602096" 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/P25490" 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=7528" 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=ENSG00000100811;t=ENST00000262238" 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=YY1" 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=YY1" 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+7528" 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/YY1" 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:7528" 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/7528" 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=chr14&hgg_gene=ENST00000262238.10&hgg_start=100239144&hgg_end=100282788&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://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=600013[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 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=600013[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/YY1/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/ENSG00000100811" 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=YY1" 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=YY1" 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=YY1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=YY1&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/PA37445" 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:12856" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0002521.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:99150" 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/YY1#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:99150" 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/7528/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=7528" 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-030131-1117" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:7528" 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=YY1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1186730002<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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600013
|
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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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TRANSCRIPTION FACTOR YY1; YY1
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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">
|
|
<em>Alternative titles; symbols</em>
|
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</span>
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</p>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
YIN YANG 1
|
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=YY1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">YY1</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/14/522?start=-3&limit=10&highlight=522">14q32.2</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr14:100239144-100282788&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'})">14:100,239,144-100,282,788</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
|
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<div>
|
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<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">
|
|
<a href="/geneMap/14/522?start=-3&limit=10&highlight=522">
|
|
14q32.2
|
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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">
|
|
Gabriele-de Vries syndrome
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/617557"> 617557 </a>
|
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|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</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">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/600013" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/600013" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</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="text" class="mim-anchor"></a>
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<h4>
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|
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<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
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</h4>
|
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
|
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<span class="mim-text-font">
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<p>The ubiquitous transcription factor YY1 has fundamental roles in embryogenesis, differentiation, replication, and cellular proliferation. YY1 exerts its effects on genes involved in these processes via its ability to initiate, activate, or repress transcription depending upon the context in which it binds. Mechanisms of YY1 action include direct activation or repression, indirect activation or repression via cofactor recruitment, or activation or repression by disruption of binding sites or conformational DNA changes (review by <a href="#6" class="mim-tip-reference" title="Gordon, S., Akopyan, G., Garban, H., Bonavida, B. <strong>Transcription factor YY1: structure, function, and therapeutic implications in cancer biology.</strong> Oncogene 25: 1125-1142, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16314846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16314846</a>] [<a href="https://doi.org/10.1038/sj.onc.1209080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16314846">Gordon et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16314846" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The YY1 cDNA was independently cloned from the human by <a href="#16" class="mim-tip-reference" title="Shi, Y., Seto, E., Chang, L.-S., Shenk, T. <strong>Transcriptional repression by YY1, a human GLI-Kruppel-related protein, and relief of repression by adenovirus E1A protein.</strong> Cell 67: 377-388, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1655281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1655281</a>] [<a href="https://doi.org/10.1016/0092-8674(91)90189-6" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1655281">Shi et al. (1991)</a> and <a href="#14" class="mim-tip-reference" title="Park, K., Atchison, M. L. <strong>Isolation of a candidate repressor/activator, NF-E1 (YY-1, delta), that binds to the immunoglobulin kappa 3-prime enhancer and the immunoglobulin heavy-chain micro-E1 site..</strong> Proc. Nat. Acad. Sci. 88: 9804-9808, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1946405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1946405</a>] [<a href="https://doi.org/10.1073/pnas.88.21.9804" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1946405">Park and Atchison (1991)</a> and from the mouse by <a href="#7" class="mim-tip-reference" title="Hariharan, N., Kelley, D. E., Perry, R. P. <strong>Delta, a transcription factor that binds to downstream elements in several polymerase II promoters, is a functionally versatile zinc finger protein.</strong> Proc. Nat. Acad. Sci. 88: 9799-9803, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1946404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1946404</a>] [<a href="https://doi.org/10.1073/pnas.88.21.9799" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1946404">Hariharan et al. (1991)</a> and <a href="#3" class="mim-tip-reference" title="Flanagan, J. R., Becker, K. G., Ennist, D. L., Gleason, S. L., Driggers, P. H., Levi, B.-Z., Appella, E., Ozato, K. <strong>Cloning of a negative transcription factor that binds to the upstream conserved region of Moloney murine leukemia virus.</strong> Molec. Cell. Biol. 12: 38-44, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1309593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1309593</a>] [<a href="https://doi.org/10.1128/mcb.12.1.38-44.1992" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1309593">Flanagan et al. (1992)</a>. The cDNAs showed 98.6% identity between the human and the mouse. YY1 is a ubiquitously distributed transcription factor belonging to the GLI-Kruppel class of zinc finger proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1946405+1946404+1309593+1655281" 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 site-directed mutagenesis and overexpression of YY1 in human fibroblasts, <a href="#21" class="mim-tip-reference" title="Yan, B., Raben, N., Plotz, P. H. <strong>Hes-1, a known transcriptional repressor, acts as a transcriptional activator for the human acid alpha-glucosidase gene in human fibroblast cells.</strong> Biochem. Biophys. Res. Commun. 291: 582-587, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11855828/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11855828</a>] [<a href="https://doi.org/10.1006/bbrc.2002.6483" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11855828">Yan et al. (2002)</a> showed that YY1, as well as HRY (<a href="/entry/139605">139605</a>), functions as a transcriptional activator of acid alpha-glucosidase (GAA; <a href="/entry/232300">232300</a>). In previous studies, <a href="#20" class="mim-tip-reference" title="Yan, B., Heus, J., Lu, N., Nichols, R. C., Raben, N., Plotz, P. H. <strong>Transcriptional regulation of the human acid alpha-glucosidase gene: identification of a repressor element and its transcription factors Hes-1 and YY1.</strong> J. Biol. Chem. 276: 1789-1793, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11038350/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11038350</a>] [<a href="https://doi.org/10.1074/jbc.M005959200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11038350">Yan et al. (2001)</a> had found that YY1, binding to the same element of the GAA gene in hepatoma cells, acts as a GAA transcription silencer. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11038350+11855828" 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="Oei, S. L., Shi, Y. <strong>Transcription factor Yin Yang 1 stimulates poly(ADP-ribosyl)ation and DNA repair.</strong> Biochem. Biophys. Res. Commun. 284: 450-454, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11394900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11394900</a>] [<a href="https://doi.org/10.1006/bbrc.2001.4985" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11394900">Oei and Shi (2001)</a> noted that physical interaction had been reported between YY1 and poly(ADP-ribose) polymerase (PARP; <a href="/entry/173870">173870</a>). PARP is a nuclear enzyme that catalyzes the synthesis of ADP-ribose polymers from NAD+, a function related to DNA repair and transcription. <a href="#13" class="mim-tip-reference" title="Oei, S. L., Shi, Y. <strong>Transcription factor Yin Yang 1 stimulates poly(ADP-ribosyl)ation and DNA repair.</strong> Biochem. Biophys. Res. Commun. 284: 450-454, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11394900/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11394900</a>] [<a href="https://doi.org/10.1006/bbrc.2001.4985" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11394900">Oei and Shi (2001)</a> found that overexpression of YY1 in HeLa cells resulted in intracellular accumulation of poly(ADP-ribose) and acceleration of DNA repair following damage with genotoxic agents, suggesting a functional as well as physical interaction between the proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11394900" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Sui, G., Affar, E. B., Shi, Y., Brignone, C., Wall, N. R., Yin, P., Donohoe, M., Luke, M. P., Calvo, D., Grossman, S. R., Shi, Y. <strong>Yin Yang 1 is a negative regulator of p53.</strong> Cell 117: 859-872, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15210108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15210108</a>] [<a href="https://doi.org/10.1016/j.cell.2004.06.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15210108">Sui et al. (2004)</a> found that YY1 ablation resulted in p53 (<a href="/entry/191170">191170</a>) accumulation due to a reduction of p53 ubiquitination in vivo. Conversely, YY1 overexpression stimulated p53 ubiquitination and degradation. Recombinant YY1 was sufficient to induce MDM2 (<a href="/entry/164785">164785</a>)-mediated p53 polyubiquitination in vitro, suggesting that this function of YY1 is independent of its transcriptional activity. There was direct physical interaction of YY1 with MDM2 and p53, and the basis for YY1 regulating p53 ubiquitination was its ability to facilitate MDM2-p53 interaction. The tumor suppressor p14(ARF) (<a href="/entry/600160">600160</a>) compromised the MDM2-YY1 interaction. <a href="#18" class="mim-tip-reference" title="Sui, G., Affar, E. B., Shi, Y., Brignone, C., Wall, N. R., Yin, P., Donohoe, M., Luke, M. P., Calvo, D., Grossman, S. R., Shi, Y. <strong>Yin Yang 1 is a negative regulator of p53.</strong> Cell 117: 859-872, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15210108/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15210108</a>] [<a href="https://doi.org/10.1016/j.cell.2004.06.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15210108">Sui et al. (2004)</a> concluded that YY1 is a potential cofactor for MDM2 in the regulation of p53 homeostasis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15210108" 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 DNA mobility shift and chromatin immunoprecipitation (ChIP) assays, <a href="#10" class="mim-tip-reference" title="Kim, J., Kollhoff, A., Bergmann, A., Stubbs, L. <strong>Methylation-sensitive binding of transcription factor YY1 to an insulator sequence within the paternally expressed imprinted gene, Peg3.</strong> Hum. Molec. Genet. 12: 233-245, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12554678/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12554678</a>] [<a href="https://doi.org/10.1093/hmg/ddg028" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12554678">Kim et al. (2003)</a> demonstrated that YY1 binds to an evolutionarily conserved motif in intron 1 of Peg3 (<a href="/entry/601483">601483</a>), a paternally-expressed zinc finger protein. The YY1 binding site contains 1 CpG dinucleotide, and methylation of this CpG site abolished the binding activity of YY1 in vitro. The Peg3 YY1 binding sites are methylated only on the maternal chromosome in vivo, and ChIP assays confirmed that YY1 binds specifically to the paternal allele of the gene. Promoter, enhancer, and insulator assays with deletion constructs of sequence surrounding the YY1 binding sites indicated that the region functions as a methylation-sensitive insulator that may influence the imprinted expression of Peg3 and neighboring genes. The authors suggested a potential role of YY1 in mammalian genomic imprinting. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12554678" 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="Gordon, S., Akopyan, G., Garban, H., Bonavida, B. <strong>Transcription factor YY1: structure, function, and therapeutic implications in cancer biology.</strong> Oncogene 25: 1125-1142, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16314846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16314846</a>] [<a href="https://doi.org/10.1038/sj.onc.1209080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16314846">Gordon et al. (2006)</a> presented a review of transcription factor YY1 with the conclusion that in addition to its regulatory roles in normal biologic processes, YY1 may possess the potential to act as an initiator of tumorigenesis and may thus serve as both a diagnostic and prognostic tumor marker; furthermore, it may provide an effective target for antitumor chemotherapy and/or immunotherapy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16314846" 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="Cunningham, J. T., Rodgers, J. T., Arlow, D. H., Vazquez, F., Mootha, V. K., Puigserver, P. <strong>mTOR controls mitochondrial oxidative function through a YY1-PGC-1-alpha transcriptional complex.</strong> Nature 450: 736-740, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18046414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18046414</a>] [<a href="https://doi.org/10.1038/nature06322" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18046414">Cunningham et al. (2007)</a> showed that mTOR (<a href="/entry/601231">601231</a>) is necessary for the maintenance of mitochondrial oxidative function. In skeletal muscle tissues and cells, the mTOR inhibitor rapamycin decreased the gene expression of the mitochondrial transcriptional regulators PGC1-alpha (<a href="/entry/604517">604517</a>), estrogen-related receptor alpha (ESRRA; <a href="/entry/601998">601998</a>), and nuclear respiratory factors, resulting in a decrease in mitochondrial gene expression and oxygen consumption. Using computational genomics, <a href="#1" class="mim-tip-reference" title="Cunningham, J. T., Rodgers, J. T., Arlow, D. H., Vazquez, F., Mootha, V. K., Puigserver, P. <strong>mTOR controls mitochondrial oxidative function through a YY1-PGC-1-alpha transcriptional complex.</strong> Nature 450: 736-740, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18046414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18046414</a>] [<a href="https://doi.org/10.1038/nature06322" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18046414">Cunningham et al. (2007)</a> identified the transcription factor YY1 as a common target of mTOR and PGC1-alpha. Knockdown of YY1 caused a significant decrease in mitochondrial gene expression and in respiration, and YY1 was required for rapamycin-dependent repression of those genes. Moreover, inhibition of mTOR resulted in a failure of YY1 to interact with and be coactivated by PGC1-alpha. <a href="#1" class="mim-tip-reference" title="Cunningham, J. T., Rodgers, J. T., Arlow, D. H., Vazquez, F., Mootha, V. K., Puigserver, P. <strong>mTOR controls mitochondrial oxidative function through a YY1-PGC-1-alpha transcriptional complex.</strong> Nature 450: 736-740, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18046414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18046414</a>] [<a href="https://doi.org/10.1038/nature06322" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18046414">Cunningham et al. (2007)</a> concluded that they identified a mechanism by which a nutrient sensor (mTOR) balances energy metabolism by means of the transcriptional control of mitochondrial oxidative function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18046414" 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="Santiago, F. S., Ishii, H., Shafi, S., Khurana, R., Kanellakis, P., Bhindi, R., Ramirez, M. J., Bobik, A., Martin, J. F., Chesterman, C. N., Zachary, I. C., Khachigian, L. M. <strong>Yin Yang-1 inhibits vascular smooth muscle cell growth and intimal thickening by repressing p21(WAF1/Cip1) transcription and p21(WAF1/Cip1)-Cdk4-cyclin D1 assembly.</strong> Circ. Res. 101: 146-155, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17556661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17556661</a>] [<a href="https://doi.org/10.1161/CIRCRESAHA.106.145235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17556661">Santiago et al. (2007)</a> found that overexpression of YY1 inhibited neointima formation in human, rabbit, and rat blood vessels. YY1 blocked transcription of the p53-activated cell cycle regulator p21 (CDKN1A; <a href="/entry/116899">116899</a>) in smooth muscle cells by preventing SP1 (<a href="/entry/189906">189906</a>) binding to the p21 promoter, thereby perturbing assembly of the p21/CDK4 (<a href="/entry/123829">123829</a>)/cyclin D1 (CCND1; <a href="/entry/168461">168461</a>) complex and blocking phosphorylation of RB1 (<a href="/entry/614041">614041</a>), a negative cell cycle regulator. In addition, YY1 destabilized p53 by inducing its ubiquitination and proteasomal degradation. <a href="#15" class="mim-tip-reference" title="Santiago, F. S., Ishii, H., Shafi, S., Khurana, R., Kanellakis, P., Bhindi, R., Ramirez, M. J., Bobik, A., Martin, J. F., Chesterman, C. N., Zachary, I. C., Khachigian, L. M. <strong>Yin Yang-1 inhibits vascular smooth muscle cell growth and intimal thickening by repressing p21(WAF1/Cip1) transcription and p21(WAF1/Cip1)-Cdk4-cyclin D1 assembly.</strong> Circ. Res. 101: 146-155, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17556661/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17556661</a>] [<a href="https://doi.org/10.1161/CIRCRESAHA.106.145235" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17556661">Santiago et al. (2007)</a> concluded that YY1 suppresses smooth muscle cell growth and arterial wound repair via p53, p21, and SP1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17556661" 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>Two noncoding loci, TSIX (<a href="/entry/300181">300181</a>) and XIST (<a href="/entry/314670">314670</a>), regulate X chromosome inactivation by controlling homologous chromosome pairing, counting, and choice of chromosome to be inactivated. <a href="#2" class="mim-tip-reference" title="Donohoe, M. E., Zhang, L.-F., Xu, N., Shi, Y., Lee, J. T. <strong>Identification of a Ctcf cofactor, Yy1, for the X chromosome binary switch.</strong> Molec. Cell 25: 43-56, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17218270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17218270</a>] [<a href="https://doi.org/10.1016/j.molcel.2006.11.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17218270">Donohoe et al. (2007)</a> found that paired Ctcf (<a href="/entry/604147">604147</a>)-Yy1 elements are highly clustered within the counting/choice and imprinting domain of mouse Tsix, and they stated that similar clustering of paired YY1-CTCF sites is found in the human X inactivation center. Immunoprecipitation and protein pull-down experiments showed direct binding between Ctcf and Yy1, and mutation analysis demonstrated that the highest affinity interactions occurred between the zinc finger of Yy1 and the N terminus of Ctcf. <a href="#2" class="mim-tip-reference" title="Donohoe, M. E., Zhang, L.-F., Xu, N., Shi, Y., Lee, J. T. <strong>Identification of a Ctcf cofactor, Yy1, for the X chromosome binary switch.</strong> Molec. Cell 25: 43-56, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17218270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17218270</a>] [<a href="https://doi.org/10.1016/j.molcel.2006.11.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17218270">Donohoe et al. (2007)</a> found that Yy1 +/- mouse embryonic stem cells had inappropriate Tsix downregulation and Xist upregulation, and knockdown of Ctcf through RNA interference yielded an identical phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17218270" 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 female mouse embryonic fibroblasts, <a href="#8" class="mim-tip-reference" title="Jeon, Y., Lee, J. T. <strong>YY1 tethers Xist RNA to the inactive X nucleation center.</strong> Cell 146: 119-133, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21729784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21729784</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21729784[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cell.2011.06.026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21729784">Jeon and Lee (2011)</a> discovered that Xist required Yy1 for its localization and accumulation on the X chromosome targeted for inactivation (Xi). Knockdown of Yy1 resulted in diffusion of Xist away from Xi, but did not result in Xist degradation. <a href="#8" class="mim-tip-reference" title="Jeon, Y., Lee, J. T. <strong>YY1 tethers Xist RNA to the inactive X nucleation center.</strong> Cell 146: 119-133, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21729784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21729784</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21729784[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cell.2011.06.026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21729784">Jeon and Lee (2011)</a> determined that Yy1 anchored Xist to DNA by binding different nucleic acid motifs in the Xist gene and Xist RNA. In the Xist gene, a cluster of Yy1-binding sites corresponded to the nucleation center for Xist binding and X inactivation. In Xist RNA, Yy1 bound a conserved C-rich element that is repeated 14 times. <a href="#8" class="mim-tip-reference" title="Jeon, Y., Lee, J. T. <strong>YY1 tethers Xist RNA to the inactive X nucleation center.</strong> Cell 146: 119-133, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21729784/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21729784</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21729784[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.cell.2011.06.026" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21729784">Jeon and Lee (2011)</a> concluded that YY1 is a multifunction protein critical for docking of Xist to Xi. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21729784" 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="Forlani, G., Giarda, E., Ala, U., Di Cunto, F., Salani, M., Tupler, R., Kilstrup-Nielsen, C., Landsberger, N. <strong>: The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.</strong> Hum. Molec. Genet. 19: 3114-3123, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20504995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20504995</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20504995[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddq214" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20504995">Forlani et al. (2010)</a> demonstrated that MeCP2 (<a href="/entry/300005">300005</a>) interacts in vitro and in vivo with YY1. <a href="#4" class="mim-tip-reference" title="Forlani, G., Giarda, E., Ala, U., Di Cunto, F., Salani, M., Tupler, R., Kilstrup-Nielsen, C., Landsberger, N. <strong>: The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.</strong> Hum. Molec. Genet. 19: 3114-3123, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20504995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20504995</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20504995[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddq214" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20504995">Forlani et al. (2010)</a> showed that MeCP2 cooperates with YY1 in repressing the ANT1 (<a href="/entry/103220">103220</a>) gene, encoding a mitochondrial adenine nucleotide translocase. Importantly, ANT1 mRNA levels are increased in human and mouse cell lines devoid of MeCP2, in Rett syndrome (<a href="/entry/312750">312750</a>) patient fibroblast, and in the brain of MeCP2-null mice. <a href="#4" class="mim-tip-reference" title="Forlani, G., Giarda, E., Ala, U., Di Cunto, F., Salani, M., Tupler, R., Kilstrup-Nielsen, C., Landsberger, N. <strong>: The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.</strong> Hum. Molec. Genet. 19: 3114-3123, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20504995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20504995</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20504995[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddq214" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20504995">Forlani et al. (2010)</a> further demonstrated that ANT1 protein levels are upregulated in MeCP2-null mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20504995" 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 expression screening, <a href="#11" class="mim-tip-reference" title="Lee, M.-H., Lahusen, T., Wang, R.-H., Xiao, C., Xu, X., Hwang, Y.-S., He, W.-W., Shi, Y., Deng, C.-X. <strong>Yin Yang 1 positively regulates BRCA1 and inhibits mammary cancer formation.</strong> Oncogene 31: 116-127, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21666725/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21666725</a>] [<a href="https://doi.org/10.1038/onc.2011.217" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21666725">Lee et al. (2012)</a> found that YY1 was a potent positive regulator of BRCA1 (<a href="/entry/113705">113705</a>). YY1 directly bound the proximal promoter region of BRCA1. Expression of Yy1 and Brca1 correlated positively during the mammary cycle in mouse mammary gland. Expression of YY1 and BRCA1 correlated positively in histologic examination of normal human and tumor breast tissue, with generally lower expression of both proteins in breast cancers. Overexpression of YY1 caused cell cycle arrest in transfected breast cancer cells and inhibited tumor formation following injection in nude mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21666725" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#17" class="mim-tip-reference" title="Sigova, A. A., Abraham, B. J., Ji, X., Molinie, B., Hannett, N. M., Guo, Y. E., Jangi, M., Giallourakis, C. C., Sharp, P. A., Young, R. A. <strong>Transcription factor trapping by RNA in gene regulatory elements.</strong> Science 350: 978-981, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26516199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26516199</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26516199[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/10.1126/science.aad3346" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26516199">Sigova et al. (2015)</a> demonstrated that the ubiquitously expressed transcription factor YY1 binds to both gene regulatory elements and their associated RNA species across the entire genome. Reduced transcription of regulatory elements diminishes YY1 occupancy, whereas artificial tethering of RNA enhances YY1 occupancy at these elements. <a href="#17" class="mim-tip-reference" title="Sigova, A. A., Abraham, B. J., Ji, X., Molinie, B., Hannett, N. M., Guo, Y. E., Jangi, M., Giallourakis, C. C., Sharp, P. A., Young, R. A. <strong>Transcription factor trapping by RNA in gene regulatory elements.</strong> Science 350: 978-981, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26516199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26516199</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26516199[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/10.1126/science.aad3346" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26516199">Sigova et al. (2015)</a> proposed that RNA makes a modest but important contribution to the maintenance of certain transcription factors at gene regulatory elements and suggested that transcription of regulatory elements produces a positive-feedback loop that contributes to the stability of gene expression programs. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26516199" 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 knockdown studies and chromatin immunoprecipitation analysis, <a href="#23" class="mim-tip-reference" title="Zhou, X., Xian, W., Zhang, J., Zhu, Y., Shao, X., Han, Y., Qi, Y., Ding, X., Wang, X. <strong>YY1 binds to the E3-prime enhancer and inhibits the expression of the immunoglobulin kappa gene via epigenetic modifications.</strong> Immunology 155: 491-498, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30098214/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30098214</a>] [<a href="https://doi.org/10.1111/imm.12990" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30098214">Zhou et al. (2018)</a> found that YY1 bound to the E3-prime enhancer of the immunoglobulin kappa (IgK) locus (see <a href="/entry/147200">147200</a>) and suppressed IgK expression in human B lymphoma cells by epigenetically modifying the enhancer. Knockdown of YY1 enhanced IgK expression, which was associated with increased expression of E2A (TCF3; <a href="/entry/147141">147141</a>) and binding of E2A to the E3-prime enhancer. In mouse germinal center B cells and plasma cells, Yy1 expression was inversely correlated with IgK levels, suggesting that Yy1 facilitates antibody affinity maturation in germinal center B cells through transient attenuation of IgK expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30098214" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#22" class="mim-tip-reference" title="Yao, Y.-L., Dupont, B. R., Ghosh, S., Fang, Y., Leach, R. J., Seto, E. <strong>Cloning, chromosomal localization and promoter analysis of the human transcription factor YY1.</strong> Nucleic Acids Res. 26: 3776-3783, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9685495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9685495</a>] [<a href="https://doi.org/10.1093/nar/26.16.3776" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9685495">Yao et al. (1998)</a> determined that the proximal promoter of YY1 contains multiple SP1 binding sites but lacks a consensus TATA or CCAAT box. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9685495" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#24" class="mim-tip-reference" title="Zhu, W., Lossie, A. C., Camper, S. A., Gumucio, D. L. <strong>Chromosomal localization of the transcription factor YY1 in the mouse and human.</strong> Mammalian Genome 5: 234-236, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7912122/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7912122</a>] [<a href="https://doi.org/10.1007/BF00360552" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7912122">Zhu et al. (1994)</a> used an interspecific backcross to map the mouse gene to chromosome 12 in a region of about 35 cM containing at least 17 genes whose homologs map to human chromosome 14q. To confirm the localization to human chromosome 14, <a href="#24" class="mim-tip-reference" title="Zhu, W., Lossie, A. C., Camper, S. A., Gumucio, D. L. <strong>Chromosomal localization of the transcription factor YY1 in the mouse and human.</strong> Mammalian Genome 5: 234-236, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7912122/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7912122</a>] [<a href="https://doi.org/10.1007/BF00360552" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7912122">Zhu et al. (1994)</a> studied genomic DNA isolated from a panel of human/mouse and human/hamster somatic hybrid cell lines. Although the findings supported localization on chromosome 14, the evidence was not definitive because of a strongly hybridizing band on human chromosome 10. The data suggested that the human genome may contain additional YY1 genes or pseudogenes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7912122" 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 FISH, <a href="#22" class="mim-tip-reference" title="Yao, Y.-L., Dupont, B. R., Ghosh, S., Fang, Y., Leach, R. J., Seto, E. <strong>Cloning, chromosomal localization and promoter analysis of the human transcription factor YY1.</strong> Nucleic Acids Res. 26: 3776-3783, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9685495/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9685495</a>] [<a href="https://doi.org/10.1093/nar/26.16.3776" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9685495">Yao et al. (1998)</a> mapped the YY1 gene to chromosome 14q32. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9685495" 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 10 unrelated patients with Gabriele-de Vries syndrome (GADEVS; <a href="/entry/617557">617557</a>), <a href="#5" class="mim-tip-reference" title="Gabriele, M., Vulto-van Silfhout, A. T., Germain, P.-L., Vitriolo, A., Kumar, R., Douglas, E., Haan, E., Kosaki, K., Takenouchi, T., Rauch, A., Steindl, K., Frengen, E., and 39 others. <strong>YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction.</strong> Am. J. Hum. Genet. 100: 907-925, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28575647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28575647</a>] [<a href="https://doi.org/10.1016/j.ajhg.2017.05.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28575647">Gabriele et al. (2017)</a> identified 10 different de novo heterozygous missense or truncating mutations in the YY1 gene (see, e.g., <a href="#0001">600013.0001</a>-<a href="#0005">600013.0005</a>). The missense mutations affected conserved residues in the zinc finger DNA-binding domains. One of the patients had originally been identified by <a href="#19" class="mim-tip-reference" title="Vissers, L. E. L. M., de Ligt, J., Gilissen, C., Janssen, I., Steehouwer, M., de Vries, P., van Lier, B., Arts, P., Wieskamp, N., del Rosario, M., van Bon, B. W. M., Hoischen, A., de Vries, B. B. A., Brunner, H. G., Veltman, J. A. <strong>A de novo paradigm for mental retardation.</strong> Nature Genet. 42: 1109-1112, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21076407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21076407</a>] [<a href="https://doi.org/10.1038/ng.712" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21076407">Vissers et al. (2010)</a> in a family-based exome sequencing study of 10 case-parent trios of de novo mental retardation. The mutation in the second patient reported by <a href="#5" class="mim-tip-reference" title="Gabriele, M., Vulto-van Silfhout, A. T., Germain, P.-L., Vitriolo, A., Kumar, R., Douglas, E., Haan, E., Kosaki, K., Takenouchi, T., Rauch, A., Steindl, K., Frengen, E., and 39 others. <strong>YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction.</strong> Am. J. Hum. Genet. 100: 907-925, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28575647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28575647</a>] [<a href="https://doi.org/10.1016/j.ajhg.2017.05.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28575647">Gabriele et al. (2017)</a> was found by targeted sequencing of the YY1 gene in 500 individuals with intellectual disability; the remaining mutations were found by exome sequencing of a total cohort of 14,969 individuals with intellectual disability. Chromatin immunoprecipitation studies of lymphoblastoid cells derived from 2 patients with missense mutations and 1 patient with a truncating mutation showed a marked global loss of YY1 DNA binding compared to controls, indicating haploinsufficiency as the pathogenic mechanism, even for missense mutations. Patient samples showed a marked decrease in H3K27 acetylation of YY1-bound active enhancers, as well as an increase in H3K27 methylation, which is associated with repression. Patient cells showed differential expression, usually downregulation, of certain target genes, including those involved in other neurodevelopmental disorders. The findings indicated that the disorder results from dysregulation of key transcriptional regulators. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=28575647+21076407" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Donohoe, M. E., Zhang, L.-F., Xu, N., Shi, Y., Lee, J. T. <strong>Identification of a Ctcf cofactor, Yy1, for the X chromosome binary switch.</strong> Molec. Cell 25: 43-56, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17218270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17218270</a>] [<a href="https://doi.org/10.1016/j.molcel.2006.11.017" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17218270">Donohoe et al. (2007)</a> found that Yy1 -/- mouse embryos died in the periimplantation period. Yy1 +/- mice were obtained at less than expected ratios from Yy1 +/+ to Yy1 +/- crosses, and they were smaller than wildtype littermates. Yy1 +/- mouse embryonic stem cells had inappropriate Tsix downregulation and Xist upregulation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17218270" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Liu, H., Schmidt-Supprian, M., Shi, Y., Hobeika, E., Barteneva, N., Jumaa, H., Pelanda, R., Reth, M., Skok, J., Rajewsky, K., Shi, Y. <strong>Yin Yang 1 is a critical regulator of B-cell development.</strong> Genes Dev. 21: 1179-1189, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17504937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17504937</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17504937[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1101/gad.1529307" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17504937">Liu et al. (2007)</a> generated mice with a conditional knockout of Yy1 only in B lymphocytes and found that Yy1 played a critical role in controlling the transition from pro-B to pre-B cells and in assuring V(H) to D(H)J(H) recombination of IgH (see <a href="/entry/147100">147100</a>). Three-dimensional DNA FISH analysis showed a significantly increased population of pro-B cells unable to undergo IgH locus contraction upon loss of Yy1. ChIP analysis revealed Yy1 binding to the Ei-mu enhancer within the IgH locus. <a href="#12" class="mim-tip-reference" title="Liu, H., Schmidt-Supprian, M., Shi, Y., Hobeika, E., Barteneva, N., Jumaa, H., Pelanda, R., Reth, M., Skok, J., Rajewsky, K., Shi, Y. <strong>Yin Yang 1 is a critical regulator of B-cell development.</strong> Genes Dev. 21: 1179-1189, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17504937/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17504937</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17504937[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1101/gad.1529307" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17504937">Liu et al. (2007)</a> concluded that YY1 has an important function in early B-cell development by controlling IgH locus contraction and V(H) to D(H)J(H) recombination. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17504937" 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 conditional RNA interference strategies, <a href="#9" class="mim-tip-reference" title="Kim, J., Kim, J. D. <strong>In vivo YY1 knockdown effects on genomic imprinting.</strong> Hum. Molec. Genet. 17: 391-401, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17977899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17977899</a>] [<a href="https://doi.org/10.1093/hmg/ddm316" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17977899">Kim and Kim (2008)</a> found that knockdown of Yy1 in mice changed the expression levels of most of the resident genes in the Peg3 and Gnas (<a href="/entry/139320">139320</a>) imprinted domains and also induced coordinated up- and downregulation of Xist/Tsix genes in males. Yy1 knockdown also changed the methylation levels of the imprint control regions of the imprinted domains in a target-specific manner. Yy1 knockdown resulted in a high level of embryonic lethality, and a subset of liveborn mice with relatively weak Yy1 knockdown showed a female-specific reduction in birth weight relative to normal littermates. <a href="#9" class="mim-tip-reference" title="Kim, J., Kim, J. D. <strong>In vivo YY1 knockdown effects on genomic imprinting.</strong> Hum. Molec. Genet. 17: 391-401, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17977899/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17977899</a>] [<a href="https://doi.org/10.1093/hmg/ddm316" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17977899">Kim and Kim (2008)</a> concluded that YY1 functions as a trans factor for regulation of these imprinted domains. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17977899" 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 2-year-old boy with Gabriele-de Vries syndrome (GADEVS; <a href="/entry/617557">617557</a>), <a href="#5" class="mim-tip-reference" title="Gabriele, M., Vulto-van Silfhout, A. T., Germain, P.-L., Vitriolo, A., Kumar, R., Douglas, E., Haan, E., Kosaki, K., Takenouchi, T., Rauch, A., Steindl, K., Frengen, E., and 39 others. <strong>YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction.</strong> Am. J. Hum. Genet. 100: 907-925, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28575647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28575647</a>] [<a href="https://doi.org/10.1016/j.ajhg.2017.05.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28575647">Gabriele et al. (2017)</a> identified a de novo heterozygous c.1138G-T transversion (c.1138G-T, NM_003403.4) in the YY1 gene, resulting in an asp380-to-tyr (D280Y) substitution at a highly conserved residue within the zinc finger domain regions. The mutation was not found in the dbSNP (build 139) or ExAC databases, or in over 7,000 in-house control exomes. Molecular modeling predicted that the mutation may affect a network of salt bridges and polar interactions important for YY1 stability, structure of the protein, and its ability to interact with cofactors. The patient had originally been identified by <a href="#19" class="mim-tip-reference" title="Vissers, L. E. L. M., de Ligt, J., Gilissen, C., Janssen, I., Steehouwer, M., de Vries, P., van Lier, B., Arts, P., Wieskamp, N., del Rosario, M., van Bon, B. W. M., Hoischen, A., de Vries, B. B. A., Brunner, H. G., Veltman, J. A. <strong>A de novo paradigm for mental retardation.</strong> Nature Genet. 42: 1109-1112, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21076407/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21076407</a>] [<a href="https://doi.org/10.1038/ng.712" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21076407">Vissers et al. (2010)</a> in a family-based exome sequencing study of 10 case-parent trios of de novo mental retardation. Patient cells showed normal levels of mutant protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=28575647+21076407" 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 15-year-old boy with Gabriele-de Vries syndrome (GADEVS; <a href="/entry/617557">617557</a>), <a href="#5" class="mim-tip-reference" title="Gabriele, M., Vulto-van Silfhout, A. T., Germain, P.-L., Vitriolo, A., Kumar, R., Douglas, E., Haan, E., Kosaki, K., Takenouchi, T., Rauch, A., Steindl, K., Frengen, E., and 39 others. <strong>YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction.</strong> Am. J. Hum. Genet. 100: 907-925, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28575647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28575647</a>] [<a href="https://doi.org/10.1016/j.ajhg.2017.05.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28575647">Gabriele et al. (2017)</a> identified a de novo heterozygous c.1097T-C transition (c.1097T-C, NM_003403.4) (c.1097T-C, NM_003403.4) in the YY1 gene, resulting in a leu366-to-pro (L366P) substitution at a highly conserved residue in one of the zinc finger domains. The mutation, which was found by direct sequencing of the YY1 gene in a cohort of 500 individuals with intellectual disability, was not found in the dbSNP (build 139) or ExAC databases, or in over 7,000 in-house control exomes. Patient cells showed normal levels of mutant protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28575647" 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">rs1131692044 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1131692044;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=rs1131692044" 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=rs1131692044" 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=RCV000494721" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000494721" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000494721</a>
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<p>In a 5-year-old girl with Gabriele-de Vries syndrome (GADEVS; <a href="/entry/617557">617557</a>), <a href="#5" class="mim-tip-reference" title="Gabriele, M., Vulto-van Silfhout, A. T., Germain, P.-L., Vitriolo, A., Kumar, R., Douglas, E., Haan, E., Kosaki, K., Takenouchi, T., Rauch, A., Steindl, K., Frengen, E., and 39 others. <strong>YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction.</strong> Am. J. Hum. Genet. 100: 907-925, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28575647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28575647</a>] [<a href="https://doi.org/10.1016/j.ajhg.2017.05.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28575647">Gabriele et al. (2017)</a> identified a de novo heterozygous c.1096C-G transversion (c.1096C-G, NM_003403.4) in the YY1 gene, resulting in a leu366-to-val (L366V) substitution at a highly conserved residue in one of the zinc finger domains. The mutation, which was found by exome sequencing, was not found in the dbSNP (build 139) or ExAC databases, or in over 7,000 in-house control exomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28575647" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 GABRIELE-DE VRIES SYNDROME</strong>
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YY1, GLN344TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1131692045 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1131692045;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=rs1131692045" 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=rs1131692045" 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=RCV000494726" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000494726" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000494726</a>
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<p>In a 39-year-old woman with Gabriele-de Vries syndrome (GADEVS; <a href="/entry/617557">617557</a>), <a href="#5" class="mim-tip-reference" title="Gabriele, M., Vulto-van Silfhout, A. T., Germain, P.-L., Vitriolo, A., Kumar, R., Douglas, E., Haan, E., Kosaki, K., Takenouchi, T., Rauch, A., Steindl, K., Frengen, E., and 39 others. <strong>YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction.</strong> Am. J. Hum. Genet. 100: 907-925, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28575647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28575647</a>] [<a href="https://doi.org/10.1016/j.ajhg.2017.05.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28575647">Gabriele et al. (2017)</a> identified a de novo heterozygous c.1030C-T transition (c.1030C-T, NM_003403.4) in the YY1 gene, resulting in a gln344-to-ter (Q344X) substitution. The mutation occurred in the penultimate exon and was expected not to trigger nonsense-mediated mRNA decay, but to produce a truncated protein lacking the last 2 zinc fingers. The mutation, which was found by exome sequencing, was not found in the dbSNP (build 139) or ExAC databases, or in over 7,000 in-house control exomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28575647" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0005 GABRIELE-DE VRIES SYNDROME</strong>
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YY1, LYS179TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1131692046 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1131692046;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=rs1131692046" 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=rs1131692046" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000494728" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000494728" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000494728</a>
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<span class="mim-text-font">
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<p>In a 17-year-old girl with Gabriele-de Vries syndrome (GADEVS; <a href="/entry/617557">617557</a>), <a href="#5" class="mim-tip-reference" title="Gabriele, M., Vulto-van Silfhout, A. T., Germain, P.-L., Vitriolo, A., Kumar, R., Douglas, E., Haan, E., Kosaki, K., Takenouchi, T., Rauch, A., Steindl, K., Frengen, E., and 39 others. <strong>YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction.</strong> Am. J. Hum. Genet. 100: 907-925, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28575647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28575647</a>] [<a href="https://doi.org/10.1016/j.ajhg.2017.05.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28575647">Gabriele et al. (2017)</a> identified a de novo heterozygous c.535A-T transversion (c.535A-T, NM_003403.4) in the YY1 gene, resulting in a lys179-to-ter (K179X) substitution. The mutation, which was found by exome sequencing, was not found in the dbSNP (build 139) or ExAC databases, or in over 7,000 in-house control exomes. Analysis of patient cells showed that the mutation resulted in nonsense-mediated mRNA decay and a 50% decrease in protein levels compared to controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28575647" 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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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="Cunningham2007" class="mim-anchor"></a>
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Cunningham, J. T., Rodgers, J. T., Arlow, D. H., Vazquez, F., Mootha, V. K., Puigserver, P.
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<strong>mTOR controls mitochondrial oxidative function through a YY1-PGC-1-alpha transcriptional complex.</strong>
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Nature 450: 736-740, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18046414/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18046414</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18046414" 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/nature06322" target="_blank">Full Text</a>]
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Donohoe, M. E., Zhang, L.-F., Xu, N., Shi, Y., Lee, J. T.
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<strong>Identification of a Ctcf cofactor, Yy1, for the X chromosome binary switch.</strong>
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Molec. Cell 25: 43-56, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17218270/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17218270</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17218270" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.molcel.2006.11.017" target="_blank">Full Text</a>]
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Flanagan, J. R., Becker, K. G., Ennist, D. L., Gleason, S. L., Driggers, P. H., Levi, B.-Z., Appella, E., Ozato, K.
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<strong>Cloning of a negative transcription factor that binds to the upstream conserved region of Moloney murine leukemia virus.</strong>
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Molec. Cell. Biol. 12: 38-44, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1309593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1309593</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1309593" 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.12.1.38-44.1992" target="_blank">Full Text</a>]
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<a id="Forlani2010" class="mim-anchor"></a>
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Forlani, G., Giarda, E., Ala, U., Di Cunto, F., Salani, M., Tupler, R., Kilstrup-Nielsen, C., Landsberger, N.
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<strong>: The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.</strong>
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Hum. Molec. Genet. 19: 3114-3123, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20504995/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20504995</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20504995[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=20504995" 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/ddq214" target="_blank">Full Text</a>]
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Gabriele, M., Vulto-van Silfhout, A. T., Germain, P.-L., Vitriolo, A., Kumar, R., Douglas, E., Haan, E., Kosaki, K., Takenouchi, T., Rauch, A., Steindl, K., Frengen, E., and 39 others.
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<strong>YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction.</strong>
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Am. J. Hum. Genet. 100: 907-925, 2017.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28575647/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28575647</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28575647" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2017.05.006" target="_blank">Full Text</a>]
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Gordon, S., Akopyan, G., Garban, H., Bonavida, B.
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<strong>Transcription factor YY1: structure, function, and therapeutic implications in cancer biology.</strong>
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Oncogene 25: 1125-1142, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16314846/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16314846</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16314846" 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.1209080" target="_blank">Full Text</a>]
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Hariharan, N., Kelley, D. E., Perry, R. P.
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<strong>Delta, a transcription factor that binds to downstream elements in several polymerase II promoters, is a functionally versatile zinc finger protein.</strong>
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Proc. Nat. Acad. Sci. 88: 9799-9803, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1946404/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1946404</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1946404" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Jeon, Y., Lee, J. T.
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<strong>YY1 tethers Xist RNA to the inactive X nucleation center.</strong>
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[<a href="https://doi.org/10.1016/j.cell.2011.06.026" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/ddm316" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/ddg028" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/onc.2011.217" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1101/gad.1529307" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/bbrc.2001.4985" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1073/pnas.88.21.9804" target="_blank">Full Text</a>]
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Matthew B. Gross - updated : 06/22/2021
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 07/05/2017<br>Ada Hamosh - updated : 09/26/2016<br>Patricia A. Hartz - updated : 9/11/2012<br>Patricia A. Hartz - updated : 2/13/2012<br>Ada Hamosh - updated : 7/7/2011<br>Patricia A. Hartz - updated : 1/12/2010<br>Patricia A. Hartz - updated : 5/27/2008<br>Ada Hamosh - updated : 1/22/2008<br>Paul J. Converse - updated : 7/3/2007<br>Matthew B. Gross - updated : 2/9/2007<br>Patricia A. Hartz - updated : 2/9/2007<br>Victor A. McKusick - updated : 6/9/2006<br>George E. Tiller - updated : 12/21/2004<br>Stylianos E. Antonarakis - updated : 8/3/2004<br>Patricia A. Hartz - updated : 5/15/2002<br>Patricia A. Hartz - updated : 3/26/2002
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 7/1/1994
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<span class="mim-text-font">
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carol : 07/06/2021
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mgross : 06/22/2021<br>carol : 08/17/2018<br>carol : 07/07/2017<br>ckniffin : 07/05/2017<br>alopez : 09/26/2016<br>mgross : 12/20/2013<br>mcolton : 12/2/2013<br>mgross : 9/13/2012<br>terry : 9/11/2012<br>alopez : 6/6/2012<br>mgross : 4/10/2012<br>terry : 2/13/2012<br>alopez : 7/18/2011<br>alopez : 7/18/2011<br>terry : 7/7/2011<br>carol : 6/17/2011<br>mgross : 1/12/2010<br>terry : 1/12/2010<br>mgross : 6/24/2008<br>mgross : 6/24/2008<br>terry : 5/27/2008<br>alopez : 1/23/2008<br>terry : 1/22/2008<br>mgross : 7/11/2007<br>terry : 7/3/2007<br>mgross : 2/9/2007<br>mgross : 2/9/2007<br>terry : 6/9/2006<br>alopez : 12/21/2004<br>mgross : 8/3/2004<br>carol : 5/15/2002<br>carol : 3/26/2002<br>mimadm : 7/30/1994<br>pfoster : 7/19/1994<br>jason : 7/13/1994<br>jason : 7/1/1994
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<span class="mim-font">
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<strong>*</strong> 600013
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<h3>
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<span class="mim-font">
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TRANSCRIPTION FACTOR YY1; YY1
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<span class="mim-font">
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YIN YANG 1
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: YY1</em></strong>
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<strong>SNOMEDCT:</strong> 1186730002;
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<strong>
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<em>
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Cytogenetic location: 14q32.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 14:100,239,144-100,282,788 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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<strong>Gene-Phenotype Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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</th>
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<span class="mim-font">
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14q32.2
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<span class="mim-font">
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Gabriele-de Vries syndrome
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<span class="mim-font">
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617557
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<span class="mim-font">
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Autosomal dominant
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<span class="mim-font">
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3
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<span class="mim-font">
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<strong>TEXT</strong>
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>The ubiquitous transcription factor YY1 has fundamental roles in embryogenesis, differentiation, replication, and cellular proliferation. YY1 exerts its effects on genes involved in these processes via its ability to initiate, activate, or repress transcription depending upon the context in which it binds. Mechanisms of YY1 action include direct activation or repression, indirect activation or repression via cofactor recruitment, or activation or repression by disruption of binding sites or conformational DNA changes (review by Gordon et al., 2006). </p>
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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 class="mim-text-font">
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<p>The YY1 cDNA was independently cloned from the human by Shi et al. (1991) and Park and Atchison (1991) and from the mouse by Hariharan et al. (1991) and Flanagan et al. (1992). The cDNAs showed 98.6% identity between the human and the mouse. YY1 is a ubiquitously distributed transcription factor belonging to the GLI-Kruppel class of zinc finger proteins. </p>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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<p>By site-directed mutagenesis and overexpression of YY1 in human fibroblasts, Yan et al. (2002) showed that YY1, as well as HRY (139605), functions as a transcriptional activator of acid alpha-glucosidase (GAA; 232300). In previous studies, Yan et al. (2001) had found that YY1, binding to the same element of the GAA gene in hepatoma cells, acts as a GAA transcription silencer. </p><p>Oei and Shi (2001) noted that physical interaction had been reported between YY1 and poly(ADP-ribose) polymerase (PARP; 173870). PARP is a nuclear enzyme that catalyzes the synthesis of ADP-ribose polymers from NAD+, a function related to DNA repair and transcription. Oei and Shi (2001) found that overexpression of YY1 in HeLa cells resulted in intracellular accumulation of poly(ADP-ribose) and acceleration of DNA repair following damage with genotoxic agents, suggesting a functional as well as physical interaction between the proteins. </p><p>Sui et al. (2004) found that YY1 ablation resulted in p53 (191170) accumulation due to a reduction of p53 ubiquitination in vivo. Conversely, YY1 overexpression stimulated p53 ubiquitination and degradation. Recombinant YY1 was sufficient to induce MDM2 (164785)-mediated p53 polyubiquitination in vitro, suggesting that this function of YY1 is independent of its transcriptional activity. There was direct physical interaction of YY1 with MDM2 and p53, and the basis for YY1 regulating p53 ubiquitination was its ability to facilitate MDM2-p53 interaction. The tumor suppressor p14(ARF) (600160) compromised the MDM2-YY1 interaction. Sui et al. (2004) concluded that YY1 is a potential cofactor for MDM2 in the regulation of p53 homeostasis. </p><p>By DNA mobility shift and chromatin immunoprecipitation (ChIP) assays, Kim et al. (2003) demonstrated that YY1 binds to an evolutionarily conserved motif in intron 1 of Peg3 (601483), a paternally-expressed zinc finger protein. The YY1 binding site contains 1 CpG dinucleotide, and methylation of this CpG site abolished the binding activity of YY1 in vitro. The Peg3 YY1 binding sites are methylated only on the maternal chromosome in vivo, and ChIP assays confirmed that YY1 binds specifically to the paternal allele of the gene. Promoter, enhancer, and insulator assays with deletion constructs of sequence surrounding the YY1 binding sites indicated that the region functions as a methylation-sensitive insulator that may influence the imprinted expression of Peg3 and neighboring genes. The authors suggested a potential role of YY1 in mammalian genomic imprinting. </p><p>Gordon et al. (2006) presented a review of transcription factor YY1 with the conclusion that in addition to its regulatory roles in normal biologic processes, YY1 may possess the potential to act as an initiator of tumorigenesis and may thus serve as both a diagnostic and prognostic tumor marker; furthermore, it may provide an effective target for antitumor chemotherapy and/or immunotherapy. </p><p>Cunningham et al. (2007) showed that mTOR (601231) is necessary for the maintenance of mitochondrial oxidative function. In skeletal muscle tissues and cells, the mTOR inhibitor rapamycin decreased the gene expression of the mitochondrial transcriptional regulators PGC1-alpha (604517), estrogen-related receptor alpha (ESRRA; 601998), and nuclear respiratory factors, resulting in a decrease in mitochondrial gene expression and oxygen consumption. Using computational genomics, Cunningham et al. (2007) identified the transcription factor YY1 as a common target of mTOR and PGC1-alpha. Knockdown of YY1 caused a significant decrease in mitochondrial gene expression and in respiration, and YY1 was required for rapamycin-dependent repression of those genes. Moreover, inhibition of mTOR resulted in a failure of YY1 to interact with and be coactivated by PGC1-alpha. Cunningham et al. (2007) concluded that they identified a mechanism by which a nutrient sensor (mTOR) balances energy metabolism by means of the transcriptional control of mitochondrial oxidative function. </p><p>Santiago et al. (2007) found that overexpression of YY1 inhibited neointima formation in human, rabbit, and rat blood vessels. YY1 blocked transcription of the p53-activated cell cycle regulator p21 (CDKN1A; 116899) in smooth muscle cells by preventing SP1 (189906) binding to the p21 promoter, thereby perturbing assembly of the p21/CDK4 (123829)/cyclin D1 (CCND1; 168461) complex and blocking phosphorylation of RB1 (614041), a negative cell cycle regulator. In addition, YY1 destabilized p53 by inducing its ubiquitination and proteasomal degradation. Santiago et al. (2007) concluded that YY1 suppresses smooth muscle cell growth and arterial wound repair via p53, p21, and SP1. </p><p>Two noncoding loci, TSIX (300181) and XIST (314670), regulate X chromosome inactivation by controlling homologous chromosome pairing, counting, and choice of chromosome to be inactivated. Donohoe et al. (2007) found that paired Ctcf (604147)-Yy1 elements are highly clustered within the counting/choice and imprinting domain of mouse Tsix, and they stated that similar clustering of paired YY1-CTCF sites is found in the human X inactivation center. Immunoprecipitation and protein pull-down experiments showed direct binding between Ctcf and Yy1, and mutation analysis demonstrated that the highest affinity interactions occurred between the zinc finger of Yy1 and the N terminus of Ctcf. Donohoe et al. (2007) found that Yy1 +/- mouse embryonic stem cells had inappropriate Tsix downregulation and Xist upregulation, and knockdown of Ctcf through RNA interference yielded an identical phenotype. </p><p>Using female mouse embryonic fibroblasts, Jeon and Lee (2011) discovered that Xist required Yy1 for its localization and accumulation on the X chromosome targeted for inactivation (Xi). Knockdown of Yy1 resulted in diffusion of Xist away from Xi, but did not result in Xist degradation. Jeon and Lee (2011) determined that Yy1 anchored Xist to DNA by binding different nucleic acid motifs in the Xist gene and Xist RNA. In the Xist gene, a cluster of Yy1-binding sites corresponded to the nucleation center for Xist binding and X inactivation. In Xist RNA, Yy1 bound a conserved C-rich element that is repeated 14 times. Jeon and Lee (2011) concluded that YY1 is a multifunction protein critical for docking of Xist to Xi. </p><p>Forlani et al. (2010) demonstrated that MeCP2 (300005) interacts in vitro and in vivo with YY1. Forlani et al. (2010) showed that MeCP2 cooperates with YY1 in repressing the ANT1 (103220) gene, encoding a mitochondrial adenine nucleotide translocase. Importantly, ANT1 mRNA levels are increased in human and mouse cell lines devoid of MeCP2, in Rett syndrome (312750) patient fibroblast, and in the brain of MeCP2-null mice. Forlani et al. (2010) further demonstrated that ANT1 protein levels are upregulated in MeCP2-null mice. </p><p>By expression screening, Lee et al. (2012) found that YY1 was a potent positive regulator of BRCA1 (113705). YY1 directly bound the proximal promoter region of BRCA1. Expression of Yy1 and Brca1 correlated positively during the mammary cycle in mouse mammary gland. Expression of YY1 and BRCA1 correlated positively in histologic examination of normal human and tumor breast tissue, with generally lower expression of both proteins in breast cancers. Overexpression of YY1 caused cell cycle arrest in transfected breast cancer cells and inhibited tumor formation following injection in nude mice. </p><p>Sigova et al. (2015) demonstrated that the ubiquitously expressed transcription factor YY1 binds to both gene regulatory elements and their associated RNA species across the entire genome. Reduced transcription of regulatory elements diminishes YY1 occupancy, whereas artificial tethering of RNA enhances YY1 occupancy at these elements. Sigova et al. (2015) proposed that RNA makes a modest but important contribution to the maintenance of certain transcription factors at gene regulatory elements and suggested that transcription of regulatory elements produces a positive-feedback loop that contributes to the stability of gene expression programs. </p><p>Using knockdown studies and chromatin immunoprecipitation analysis, Zhou et al. (2018) found that YY1 bound to the E3-prime enhancer of the immunoglobulin kappa (IgK) locus (see 147200) and suppressed IgK expression in human B lymphoma cells by epigenetically modifying the enhancer. Knockdown of YY1 enhanced IgK expression, which was associated with increased expression of E2A (TCF3; 147141) and binding of E2A to the E3-prime enhancer. In mouse germinal center B cells and plasma cells, Yy1 expression was inversely correlated with IgK levels, suggesting that Yy1 facilitates antibody affinity maturation in germinal center B cells through transient attenuation of IgK expression. </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>Gene Structure</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Yao et al. (1998) determined that the proximal promoter of YY1 contains multiple SP1 binding sites but lacks a consensus TATA or CCAAT box. </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 class="mim-text-font">
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<p>Zhu et al. (1994) used an interspecific backcross to map the mouse gene to chromosome 12 in a region of about 35 cM containing at least 17 genes whose homologs map to human chromosome 14q. To confirm the localization to human chromosome 14, Zhu et al. (1994) studied genomic DNA isolated from a panel of human/mouse and human/hamster somatic hybrid cell lines. Although the findings supported localization on chromosome 14, the evidence was not definitive because of a strongly hybridizing band on human chromosome 10. The data suggested that the human genome may contain additional YY1 genes or pseudogenes. </p><p>By FISH, Yao et al. (1998) mapped the YY1 gene to chromosome 14q32. </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>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>In 10 unrelated patients with Gabriele-de Vries syndrome (GADEVS; 617557), Gabriele et al. (2017) identified 10 different de novo heterozygous missense or truncating mutations in the YY1 gene (see, e.g., 600013.0001-600013.0005). The missense mutations affected conserved residues in the zinc finger DNA-binding domains. One of the patients had originally been identified by Vissers et al. (2010) in a family-based exome sequencing study of 10 case-parent trios of de novo mental retardation. The mutation in the second patient reported by Gabriele et al. (2017) was found by targeted sequencing of the YY1 gene in 500 individuals with intellectual disability; the remaining mutations were found by exome sequencing of a total cohort of 14,969 individuals with intellectual disability. Chromatin immunoprecipitation studies of lymphoblastoid cells derived from 2 patients with missense mutations and 1 patient with a truncating mutation showed a marked global loss of YY1 DNA binding compared to controls, indicating haploinsufficiency as the pathogenic mechanism, even for missense mutations. Patient samples showed a marked decrease in H3K27 acetylation of YY1-bound active enhancers, as well as an increase in H3K27 methylation, which is associated with repression. Patient cells showed differential expression, usually downregulation, of certain target genes, including those involved in other neurodevelopmental disorders. The findings indicated that the disorder results from dysregulation of key transcriptional regulators. </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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<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>Donohoe et al. (2007) found that Yy1 -/- mouse embryos died in the periimplantation period. Yy1 +/- mice were obtained at less than expected ratios from Yy1 +/+ to Yy1 +/- crosses, and they were smaller than wildtype littermates. Yy1 +/- mouse embryonic stem cells had inappropriate Tsix downregulation and Xist upregulation. </p><p>Liu et al. (2007) generated mice with a conditional knockout of Yy1 only in B lymphocytes and found that Yy1 played a critical role in controlling the transition from pro-B to pre-B cells and in assuring V(H) to D(H)J(H) recombination of IgH (see 147100). Three-dimensional DNA FISH analysis showed a significantly increased population of pro-B cells unable to undergo IgH locus contraction upon loss of Yy1. ChIP analysis revealed Yy1 binding to the Ei-mu enhancer within the IgH locus. Liu et al. (2007) concluded that YY1 has an important function in early B-cell development by controlling IgH locus contraction and V(H) to D(H)J(H) recombination. </p><p>Using conditional RNA interference strategies, Kim and Kim (2008) found that knockdown of Yy1 in mice changed the expression levels of most of the resident genes in the Peg3 and Gnas (139320) imprinted domains and also induced coordinated up- and downregulation of Xist/Tsix genes in males. Yy1 knockdown also changed the methylation levels of the imprint control regions of the imprinted domains in a target-specific manner. Yy1 knockdown resulted in a high level of embryonic lethality, and a subset of liveborn mice with relatively weak Yy1 knockdown showed a female-specific reduction in birth weight relative to normal littermates. Kim and Kim (2008) concluded that YY1 functions as a trans factor for regulation of these imprinted domains. </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>5 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 GABRIELE-DE VRIES SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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YY1, ASP380TYR
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<br />
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SNP: rs1131692043,
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ClinVar: RCV000494725
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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 2-year-old boy with Gabriele-de Vries syndrome (GADEVS; 617557), Gabriele et al. (2017) identified a de novo heterozygous c.1138G-T transversion (c.1138G-T, NM_003403.4) in the YY1 gene, resulting in an asp380-to-tyr (D280Y) substitution at a highly conserved residue within the zinc finger domain regions. The mutation was not found in the dbSNP (build 139) or ExAC databases, or in over 7,000 in-house control exomes. Molecular modeling predicted that the mutation may affect a network of salt bridges and polar interactions important for YY1 stability, structure of the protein, and its ability to interact with cofactors. The patient had originally been identified by Vissers et al. (2010) in a family-based exome sequencing study of 10 case-parent trios of de novo mental retardation. Patient cells showed normal levels of mutant protein. </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 GABRIELE-DE VRIES SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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YY1, LEU366PRO
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<br />
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SNP: rs1131692163,
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ClinVar: RCV000494727
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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 15-year-old boy with Gabriele-de Vries syndrome (GADEVS; 617557), Gabriele et al. (2017) identified a de novo heterozygous c.1097T-C transition (c.1097T-C, NM_003403.4) (c.1097T-C, NM_003403.4) in the YY1 gene, resulting in a leu366-to-pro (L366P) substitution at a highly conserved residue in one of the zinc finger domains. The mutation, which was found by direct sequencing of the YY1 gene in a cohort of 500 individuals with intellectual disability, was not found in the dbSNP (build 139) or ExAC databases, or in over 7,000 in-house control exomes. Patient cells showed normal levels of mutant protein. </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 GABRIELE-DE VRIES SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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YY1, LEU366VAL
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<br />
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SNP: rs1131692044,
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ClinVar: RCV000494721
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 5-year-old girl with Gabriele-de Vries syndrome (GADEVS; 617557), Gabriele et al. (2017) identified a de novo heterozygous c.1096C-G transversion (c.1096C-G, NM_003403.4) in the YY1 gene, resulting in a leu366-to-val (L366V) substitution at a highly conserved residue in one of the zinc finger domains. The mutation, which was found by exome sequencing, was not found in the dbSNP (build 139) or ExAC databases, or in over 7,000 in-house control exomes. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0004 GABRIELE-DE VRIES SYNDROME</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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YY1, GLN344TER
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<br />
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SNP: rs1131692045,
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ClinVar: RCV000494726
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</span>
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</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 39-year-old woman with Gabriele-de Vries syndrome (GADEVS; 617557), Gabriele et al. (2017) identified a de novo heterozygous c.1030C-T transition (c.1030C-T, NM_003403.4) in the YY1 gene, resulting in a gln344-to-ter (Q344X) substitution. The mutation occurred in the penultimate exon and was expected not to trigger nonsense-mediated mRNA decay, but to produce a truncated protein lacking the last 2 zinc fingers. The mutation, which was found by exome sequencing, was not found in the dbSNP (build 139) or ExAC databases, or in over 7,000 in-house control exomes. </p>
|
|
</span>
|
|
</div>
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<div>
|
|
<br />
|
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</div>
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</div>
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<div>
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<div>
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|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0005 GABRIELE-DE VRIES SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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|
<span class="mim-text-font">
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|
|
YY1, LYS179TER
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|
<br />
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|
|
SNP: rs1131692046,
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|
|
ClinVar: RCV000494728
|
|
|
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|
|
</span>
|
|
</div>
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|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 17-year-old girl with Gabriele-de Vries syndrome (GADEVS; 617557), Gabriele et al. (2017) identified a de novo heterozygous c.535A-T transversion (c.535A-T, NM_003403.4) in the YY1 gene, resulting in a lys179-to-ter (K179X) substitution. The mutation, which was found by exome sequencing, was not found in the dbSNP (build 139) or ExAC databases, or in over 7,000 in-house control exomes. Analysis of patient cells showed that the mutation resulted in nonsense-mediated mRNA decay and a 50% decrease in protein levels compared to controls. </p>
|
|
</span>
|
|
</div>
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<div>
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|
<br />
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</div>
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
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<p />
|
|
</div>
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<div>
|
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<ol>
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<li>
|
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<p class="mim-text-font">
|
|
Cunningham, J. T., Rodgers, J. T., Arlow, D. H., Vazquez, F., Mootha, V. K., Puigserver, P.
|
|
<strong>mTOR controls mitochondrial oxidative function through a YY1-PGC-1-alpha transcriptional complex.</strong>
|
|
Nature 450: 736-740, 2007.
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|
[PubMed: 18046414]
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[Full Text: https://doi.org/10.1038/nature06322]
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</p>
|
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Donohoe, M. E., Zhang, L.-F., Xu, N., Shi, Y., Lee, J. T.
|
|
<strong>Identification of a Ctcf cofactor, Yy1, for the X chromosome binary switch.</strong>
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Molec. Cell 25: 43-56, 2007.
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[PubMed: 17218270]
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[Full Text: https://doi.org/10.1016/j.molcel.2006.11.017]
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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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Flanagan, J. R., Becker, K. G., Ennist, D. L., Gleason, S. L., Driggers, P. H., Levi, B.-Z., Appella, E., Ozato, K.
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<strong>Cloning of a negative transcription factor that binds to the upstream conserved region of Moloney murine leukemia virus.</strong>
|
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Molec. Cell. Biol. 12: 38-44, 1992.
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[PubMed: 1309593]
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[Full Text: https://doi.org/10.1128/mcb.12.1.38-44.1992]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Forlani, G., Giarda, E., Ala, U., Di Cunto, F., Salani, M., Tupler, R., Kilstrup-Nielsen, C., Landsberger, N.
|
|
<strong>: The MeCP2/YY1 interaction regulates ANT1 expression at 4q35: novel hints for Rett syndrome pathogenesis.</strong>
|
|
Hum. Molec. Genet. 19: 3114-3123, 2010.
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[PubMed: 20504995]
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[Full Text: https://doi.org/10.1093/hmg/ddq214]
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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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Gabriele, M., Vulto-van Silfhout, A. T., Germain, P.-L., Vitriolo, A., Kumar, R., Douglas, E., Haan, E., Kosaki, K., Takenouchi, T., Rauch, A., Steindl, K., Frengen, E., and 39 others.
|
|
<strong>YY1 haploinsufficiency causes an intellectual disability syndrome featuring transcriptional and chromatin dysfunction.</strong>
|
|
Am. J. Hum. Genet. 100: 907-925, 2017.
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[PubMed: 28575647]
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[Full Text: https://doi.org/10.1016/j.ajhg.2017.05.006]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Gordon, S., Akopyan, G., Garban, H., Bonavida, B.
|
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<strong>Transcription factor YY1: structure, function, and therapeutic implications in cancer biology.</strong>
|
|
Oncogene 25: 1125-1142, 2006.
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[PubMed: 16314846]
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[Full Text: https://doi.org/10.1038/sj.onc.1209080]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Hariharan, N., Kelley, D. E., Perry, R. P.
|
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<strong>Delta, a transcription factor that binds to downstream elements in several polymerase II promoters, is a functionally versatile zinc finger protein.</strong>
|
|
Proc. Nat. Acad. Sci. 88: 9799-9803, 1991.
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[PubMed: 1946404]
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[Full Text: https://doi.org/10.1073/pnas.88.21.9799]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Jeon, Y., Lee, J. T.
|
|
<strong>YY1 tethers Xist RNA to the inactive X nucleation center.</strong>
|
|
Cell 146: 119-133, 2011.
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|
|
[PubMed: 21729784]
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[Full Text: https://doi.org/10.1016/j.cell.2011.06.026]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Kim, J., Kim, J. D.
|
|
<strong>In vivo YY1 knockdown effects on genomic imprinting.</strong>
|
|
Hum. Molec. Genet. 17: 391-401, 2008.
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[PubMed: 17977899]
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[Full Text: https://doi.org/10.1093/hmg/ddm316]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Kim, J., Kollhoff, A., Bergmann, A., Stubbs, L.
|
|
<strong>Methylation-sensitive binding of transcription factor YY1 to an insulator sequence within the paternally expressed imprinted gene, Peg3.</strong>
|
|
Hum. Molec. Genet. 12: 233-245, 2003.
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[PubMed: 12554678]
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[Full Text: https://doi.org/10.1093/hmg/ddg028]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Lee, M.-H., Lahusen, T., Wang, R.-H., Xiao, C., Xu, X., Hwang, Y.-S., He, W.-W., Shi, Y., Deng, C.-X.
|
|
<strong>Yin Yang 1 positively regulates BRCA1 and inhibits mammary cancer formation.</strong>
|
|
Oncogene 31: 116-127, 2012.
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|
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[PubMed: 21666725]
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[Full Text: https://doi.org/10.1038/onc.2011.217]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Liu, H., Schmidt-Supprian, M., Shi, Y., Hobeika, E., Barteneva, N., Jumaa, H., Pelanda, R., Reth, M., Skok, J., Rajewsky, K., Shi, Y.
|
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<strong>Yin Yang 1 is a critical regulator of B-cell development.</strong>
|
|
Genes Dev. 21: 1179-1189, 2007.
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[PubMed: 17504937]
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[Full Text: https://doi.org/10.1101/gad.1529307]
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</p>
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</li>
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<li>
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|
<p class="mim-text-font">
|
|
Oei, S. L., Shi, Y.
|
|
<strong>Transcription factor Yin Yang 1 stimulates poly(ADP-ribosyl)ation and DNA repair.</strong>
|
|
Biochem. Biophys. Res. Commun. 284: 450-454, 2001.
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[PubMed: 11394900]
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[Full Text: https://doi.org/10.1006/bbrc.2001.4985]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Park, K., Atchison, M. L.
|
|
<strong>Isolation of a candidate repressor/activator, NF-E1 (YY-1, delta), that binds to the immunoglobulin kappa 3-prime enhancer and the immunoglobulin heavy-chain micro-E1 site..</strong>
|
|
Proc. Nat. Acad. Sci. 88: 9804-9808, 1991.
|
|
|
|
|
|
[PubMed: 1946405]
|
|
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|
|
[Full Text: https://doi.org/10.1073/pnas.88.21.9804]
|
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|
|
</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Santiago, F. S., Ishii, H., Shafi, S., Khurana, R., Kanellakis, P., Bhindi, R., Ramirez, M. J., Bobik, A., Martin, J. F., Chesterman, C. N., Zachary, I. C., Khachigian, L. M.
|
|
<strong>Yin Yang-1 inhibits vascular smooth muscle cell growth and intimal thickening by repressing p21(WAF1/Cip1) transcription and p21(WAF1/Cip1)-Cdk4-cyclin D1 assembly.</strong>
|
|
Circ. Res. 101: 146-155, 2007.
|
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|
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|
|
[PubMed: 17556661]
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|
|
[Full Text: https://doi.org/10.1161/CIRCRESAHA.106.145235]
|
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Shi, Y., Seto, E., Chang, L.-S., Shenk, T.
|
|
<strong>Transcriptional repression by YY1, a human GLI-Kruppel-related protein, and relief of repression by adenovirus E1A protein.</strong>
|
|
Cell 67: 377-388, 1991.
|
|
|
|
|
|
[PubMed: 1655281]
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|
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|
|
|
[Full Text: https://doi.org/10.1016/0092-8674(91)90189-6]
|
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|
</p>
|
|
</li>
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<li>
|
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<p class="mim-text-font">
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Matthew B. Gross - updated : 06/22/2021<br>Cassandra L. Kniffin - updated : 07/05/2017<br>Ada Hamosh - updated : 09/26/2016<br>Patricia A. Hartz - updated : 9/11/2012<br>Patricia A. Hartz - updated : 2/13/2012<br>Ada Hamosh - updated : 7/7/2011<br>Patricia A. Hartz - updated : 1/12/2010<br>Patricia A. Hartz - updated : 5/27/2008<br>Ada Hamosh - updated : 1/22/2008<br>Paul J. Converse - updated : 7/3/2007<br>Matthew B. Gross - updated : 2/9/2007<br>Patricia A. Hartz - updated : 2/9/2007<br>Victor A. McKusick - updated : 6/9/2006<br>George E. Tiller - updated : 12/21/2004<br>Stylianos E. Antonarakis - updated : 8/3/2004<br>Patricia A. Hartz - updated : 5/15/2002<br>Patricia A. Hartz - updated : 3/26/2002
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Victor A. McKusick : 7/1/1994
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carol : 07/06/2021<br>mgross : 06/22/2021<br>carol : 08/17/2018<br>carol : 07/07/2017<br>ckniffin : 07/05/2017<br>alopez : 09/26/2016<br>mgross : 12/20/2013<br>mcolton : 12/2/2013<br>mgross : 9/13/2012<br>terry : 9/11/2012<br>alopez : 6/6/2012<br>mgross : 4/10/2012<br>terry : 2/13/2012<br>alopez : 7/18/2011<br>alopez : 7/18/2011<br>terry : 7/7/2011<br>carol : 6/17/2011<br>mgross : 1/12/2010<br>terry : 1/12/2010<br>mgross : 6/24/2008<br>mgross : 6/24/2008<br>terry : 5/27/2008<br>alopez : 1/23/2008<br>terry : 1/22/2008<br>mgross : 7/11/2007<br>terry : 7/3/2007<br>mgross : 2/9/2007<br>mgross : 2/9/2007<br>terry : 6/9/2006<br>alopez : 12/21/2004<br>mgross : 8/3/2004<br>carol : 5/15/2002<br>carol : 3/26/2002<br>mimadm : 7/30/1994<br>pfoster : 7/19/1994<br>jason : 7/13/1994<br>jason : 7/1/1994
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