3345 lines
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Entry
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- *605984 - EMBRYONIC ECTODERM DEVELOPMENT; EED
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- OMIM
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<p>
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<span class="h4">*605984</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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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<a href="#geneFunction">Gene Function</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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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/605984">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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<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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<h4 class="panel-title">
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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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<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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<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=ENSG00000074266;t=ENST00000263360" 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=8726" 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=605984" 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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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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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=ENSG00000074266;t=ENST00000263360" 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_001308007,NM_001330334,NM_003797,XM_011545330,XM_011545331,XM_017018512,XM_017018513,XM_047427801,XM_047427802,XM_047427803" 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_003797" 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=605984" 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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<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=09343&isoform_id=09343_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/EED" 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/3236452,3420790,3760314,3790577,3851654,24041020,29126903,46255797,119595535,119595536,119595537,158257672,194376140,194376630,205790383,444738337,767968956,767968958,808175997,1034576106,1034576110,1057866996,2217285316,2217285319,2217285321,2462528451,2462528453,2462528455,2462528457,2462528459,2462528461,2462528463" 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/O75530" 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 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=8726" 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=ENSG00000074266;t=ENST00000263360" 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=EED" 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=EED" 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+8726" 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/EED" 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:8726" 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/8726" 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=chr11&hgg_gene=ENST00000263360.11&hgg_start=86244753&hgg_end=86287615&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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:3188" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=605984[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=605984[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/EED/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/ENSG00000074266" 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=EED" 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=EED" 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=EED" 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=EED&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/PA27624" 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:3188" 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/FBgn0000588.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:95286" 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/EED#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:95286" 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/8726/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=8726" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00003224;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-050417-287" 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:8726" 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=EED&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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605984
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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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EMBRYONIC ECTODERM DEVELOPMENT; EED
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
EMBRYONIC ECTODERM DEVELOPMENT PROTEIN, MOUSE, HOMOLOG OF<br />
|
|
EED, MOUSE, HOMOLOG OF<br />
|
|
WD PROTEIN ASSOCIATING WITH INTEGRIN CYTOPLASMIC TAILS 1; WAIT1
|
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</span>
|
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</h4>
|
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</div>
|
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</div>
|
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<div>
|
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<br />
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=EED" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">EED</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/11/807?start=-3&limit=10&highlight=807">11q14.2</a>
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|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr11:86244753-86287615&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'})">11:86,244,753-86,287,615</a> </span>
|
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</em>
|
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
|
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</p>
|
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</div>
|
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<div>
|
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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">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/11/807?start=-3&limit=10&highlight=807">
|
|
11q14.2
|
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</a>
|
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</span>
|
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</td>
|
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|
|
|
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<td>
|
|
<span class="mim-font">
|
|
Cohen-Gibson 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/617561"> 617561 </a>
|
|
|
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</span>
|
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</td>
|
|
<td>
|
|
<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>
|
|
<span class="mim-font">
|
|
|
|
<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>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/605984" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/605984" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</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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<p />
|
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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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<a id="text" class="mim-anchor"></a>
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<h4>
|
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<span class="mim-font">
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<p>The EED gene encodes an evolutionarily conserved polycomb group (PcG) protein that forms a specific complex, the polycomb repressive complex-2 (PRC2), with 3 other PcG proteins: EZH2 (<a href="/entry/601573">601573</a>), SUZ12 (<a href="/entry/606245">606245</a>), and RBBP7/4 (<a href="/entry/300825">300825</a>/<a href="/entry/602923">602923</a>). EED and EZH2 are core components of the PRC2, which possesses histone methyltransferase activity and catalyzes trimethylation of histone H3 at lysine 27 (H3K27). The PRC2 complex plays an essential role in regulating chromatin structure and acts as an important regulator of cell development and differentiation during embryogenesis. It also regulates adult tissues through epigenetic gene repression (summary by <a href="#9" class="mim-tip-reference" title="Imagawa, E., Higashimoto, K., Sakai, Y., Numakura, C., Okamoto, N., Matsunaga, S., Ryo, A., Sato, Y., Sanefuji, M., Ihara, K., Takada, Y., Nishimura, G., Saitsu, H., Mizuguchi, T., Miyatake, S., Nakashima, M., Miyake, N., Soejima, H., Matsumoto, N. <strong>Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.</strong> Hum. Mutat. 38: 637-648, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28229514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28229514</a>] [<a href="https://doi.org/10.1002/humu.23200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28229514">Imagawa et al., 2017</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28229514" 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 Drosophila, the Polycomb-group (PcG) and trithorax-group (trxG) genes are part of a cellular memory system responsible for the stable inheritance of gene activity. PcG and trxG genes are repressors and activators, respectively, of Drosophila homeotic gene expression. ENX1 (EZH2; <a href="/entry/601573">601573</a>) is a mammalian homolog of the Drosophila 'enhancer of zeste' gene and has domains with sequence homology to both PcG and trxG genes. Using a yeast 2-hybrid screen with ENX1 as bait, followed by screening a fetal brain cDNA library, <a href="#15" class="mim-tip-reference" title="Sewalt, R. G. A. B., van der Vlag, J., Gunster, M. J., Hamer, K. M., den Blaauwen, J. L., Satijn, D. P. E., Hendrix, T., van Driel, R., Otte, A. P. <strong>Characterization of interactions between the mammalian Polycomb-group proteins Enx1/EZH2 and EED suggests the existence of different mammalian Polycomb-group protein complexes.</strong> Molec. Cell. Biol. 18: 3586-3595, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9584199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9584199</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9584199[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.18.6.3586" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9584199">Sewalt et al. (1998)</a> isolated a cDNA encoding EED. EED is the human homolog of Eed, a murine PcG gene homologous to the Drosophila homeotic gene, 'extra sex combs.' The predicted 535-amino acid human EED protein is 100% identical to the murine protein. The N-terminal region of EED contains a putative PEST sequence, which is implicated in protein degradation, and there are 5 WD40 domains throughout the EED protein. WD40 domains are involved in protein-protein interactions, and <a href="#15" class="mim-tip-reference" title="Sewalt, R. G. A. B., van der Vlag, J., Gunster, M. J., Hamer, K. M., den Blaauwen, J. L., Satijn, D. P. E., Hendrix, T., van Driel, R., Otte, A. P. <strong>Characterization of interactions between the mammalian Polycomb-group proteins Enx1/EZH2 and EED suggests the existence of different mammalian Polycomb-group protein complexes.</strong> Molec. Cell. Biol. 18: 3586-3595, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9584199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9584199</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9584199[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.18.6.3586" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9584199">Sewalt et al. (1998)</a> showed that all 5 are necessary for the ENX1-EED interaction to occur. Northern blot analysis detected 1.5- and 2.0-kb EED transcripts in all tissues and cell lines tested; larger transcripts were detected in normal human tissues only, but at much lower levels. Highest expression was found in testis, spleen, prostate, ovary, and small intestine, as well as in colorectal adenocarcinoma, chronic myeloid leukemia, and osteosarcoma cell lines, with lower levels in thymus, colon, and peripheral blood leukocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9584199" 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>Beta-7 integrins (ITGB7; <a href="/entry/147559">147559</a>) are involved in the development and/or progression of diseases such as colitis, diabetic insulitis, and lymphoid malignancies, and they play an important role for physiologic functions and pathologic alterations of the immune system. Using a yeast 2-hybrid screen on a Jurkat cell cDNA library with the cytoplasmic tail of ITGB7 as bait, <a href="#13" class="mim-tip-reference" title="Rietzler, M., Bittner, M., Kolanus, W., Schuster, A., Holzmann, B. <strong>The human WD repeat protein WAIT-1 specifically interacts with the cytoplasmic tails of beta-7-integrins.</strong> J. Biol. Chem. 273: 27459-27466, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9765275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9765275</a>] [<a href="https://doi.org/10.1074/jbc.273.42.27459" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9765275">Rietzler et al. (1998)</a> isolated a cDNA encoding EED, which they designated WAIT1. The deduced 441-amino acid protein has a region homologous to a repeat motif in the RCC1 protein (<a href="/entry/179710">179710</a>) and a region homologous to a repeat motif from the beta subunit of heterotrimeric G proteins (see <a href="/entry/139380">139380</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9765275" 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="#15" class="mim-tip-reference" title="Sewalt, R. G. A. B., van der Vlag, J., Gunster, M. J., Hamer, K. M., den Blaauwen, J. L., Satijn, D. P. E., Hendrix, T., van Driel, R., Otte, A. P. <strong>Characterization of interactions between the mammalian Polycomb-group proteins Enx1/EZH2 and EED suggests the existence of different mammalian Polycomb-group protein complexes.</strong> Molec. Cell. Biol. 18: 3586-3595, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9584199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9584199</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9584199[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1128/MCB.18.6.3586" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9584199">Sewalt et al. (1998)</a> found that ENX1 and EED coimmunoprecipitate, indicating that they also interact in vivo. They do not, however, interact with other PcG proteins, such as PC2 (<a href="/entry/603079">603079</a>) and BMI1 (<a href="/entry/164831">164831</a>). Furthermore, ENX1 and EED do not colocalize with HPC2 or BMI1 in nuclear domains of U-2 OS osteosarcoma cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9584199" 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="Rietzler, M., Bittner, M., Kolanus, W., Schuster, A., Holzmann, B. <strong>The human WD repeat protein WAIT-1 specifically interacts with the cytoplasmic tails of beta-7-integrins.</strong> J. Biol. Chem. 273: 27459-27466, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9765275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9765275</a>] [<a href="https://doi.org/10.1074/jbc.273.42.27459" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9765275">Rietzler et al. (1998)</a> demonstrated that EED interacts with the ITGB7 cytoplasmic tail, which regulates receptor avidity and signaling, by coprecipitation from transiently transfected 293 cells. Tyr735 of ITGB7 was critical for the interaction. EED also interacts with the cytoplasmic domains of ITGA4 (<a href="/entry/192975">192975</a>) and ITGAE (<a href="/entry/604682">604682</a>), but not with those of ITGB1 (<a href="/entry/135630">135630</a>), ITGB2 (<a href="/entry/600065">600065</a>), and ITGAL (<a href="/entry/153370">153370</a>). The authors concluded that EED may act as a specific regulator of integrin function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9765275" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Peytavi, R., Hong, S. S., Gay, B., d'Angeac, A. D., Selig, L., Benichou, S., Benarous, R., Boulanger, P. <strong>HEED, the product of the human homolog of the murine eed gene, binds to the matrix protein of HIV-1.</strong> J. Biol. Chem. 274: 1635-1645, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9880543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9880543</a>] [<a href="https://doi.org/10.1074/jbc.274.3.1635" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9880543">Peytavi et al. (1999)</a> isolated cDNAs encoding EED using the yeast 2-hybrid system on an activated lymphocyte cDNA library with the human immunodeficiency virus-1 (HIV-1) matrix (MA) protein as bait. EED was found to bind MA in vitro and in vivo in yeast cells. The MA and EED proteins colocalized within the nucleus of cotransfected human cells. This and the failure of EED to bind to uncleaved GAG precursor suggested a role for EED at the early stages of virus infection, rather than late in the virus life cycle. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9880543" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In marsupials and the extraembryonic region of the mouse, X inactivation is imprinted: the paternal X chromosome is preferentially inactivated whereas the maternal X is always active. Having more than 1 active X chromosome is deleterious to extraembryonic development in the mouse. <a href="#17" class="mim-tip-reference" title="Wang, J., Mager, J., Chen, Y., Schneider, E., Cross, J. C., Nagy, A., Magnuson, T. <strong>Imprinted X inactivation maintained by a mouse Polycomb group gene.</strong> Nature Genet. 28: 371-375, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11479595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11479595</a>] [<a href="https://doi.org/10.1038/ng574" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11479595">Wang et al. (2001)</a> showed that the eed gene is required for primary and secondary trophoblast giant cell development in female embryos. Results from mice carrying a paternally inherited X-linked GFP transgene implicated eed in the stable maintenance of imprinted X inactivation in extraembryonic tissues. Based on the recent finding that the EED protein interacts with histone deacetylases, <a href="#17" class="mim-tip-reference" title="Wang, J., Mager, J., Chen, Y., Schneider, E., Cross, J. C., Nagy, A., Magnuson, T. <strong>Imprinted X inactivation maintained by a mouse Polycomb group gene.</strong> Nature Genet. 28: 371-375, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11479595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11479595</a>] [<a href="https://doi.org/10.1038/ng574" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11479595">Wang et al. (2001)</a> suggested that this maintenance activity involves hypoacetylation of the inactivated paternal X chromosome in the extraembryonic tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11479595" 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="#2" class="mim-tip-reference" title="Cao, R., Wang, L., Wang, H., Xia, L., Erdjument-Bromage, H., Tempst, P., Jones, R. S., Zhang, Y. <strong>Role of histone H3 lysine 27 methylation in polycomb-group silencing.</strong> Science 298: 1039-1043, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12351676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12351676</a>] [<a href="https://doi.org/10.1126/science.1076997" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12351676">Cao et al. (2002)</a> reported the purification and characterization of an EED-EZH2 complex, the human counterpart of the Drosophila ESC-E(Z) complex. <a href="#2" class="mim-tip-reference" title="Cao, R., Wang, L., Wang, H., Xia, L., Erdjument-Bromage, H., Tempst, P., Jones, R. S., Zhang, Y. <strong>Role of histone H3 lysine 27 methylation in polycomb-group silencing.</strong> Science 298: 1039-1043, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12351676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12351676</a>] [<a href="https://doi.org/10.1126/science.1076997" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12351676">Cao et al. (2002)</a> demonstrated that the complex specifically methylates nucleosomal histone H3 (see <a href="/entry/602812">602812</a>) at lysine-27 (H3-K27). Using chromatin immunoprecipitation assays, <a href="#2" class="mim-tip-reference" title="Cao, R., Wang, L., Wang, H., Xia, L., Erdjument-Bromage, H., Tempst, P., Jones, R. S., Zhang, Y. <strong>Role of histone H3 lysine 27 methylation in polycomb-group silencing.</strong> Science 298: 1039-1043, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12351676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12351676</a>] [<a href="https://doi.org/10.1126/science.1076997" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12351676">Cao et al. (2002)</a> showed that H3-K27 methylation colocalizes with, and is dependent on, E(Z) binding at an 'Ultrabithorax' (Ubx) Polycomb response element, and that this methylation correlates with Ubx expression. Methylation on H3-K27 facilitates binding of Polycomb, a component of the Polycomb repressive complex 1 (PRC1 complex), to the histone H3 N-terminal tail. Thus, <a href="#2" class="mim-tip-reference" title="Cao, R., Wang, L., Wang, H., Xia, L., Erdjument-Bromage, H., Tempst, P., Jones, R. S., Zhang, Y. <strong>Role of histone H3 lysine 27 methylation in polycomb-group silencing.</strong> Science 298: 1039-1043, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12351676/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12351676</a>] [<a href="https://doi.org/10.1126/science.1076997" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12351676">Cao et al. (2002)</a> concluded that their studies established a link between histone methylation and Polycomb group-mediated gene silencing. The complex responsible for histone methyltransferase activity includes EZH2 (<a href="/entry/601573">601573</a>), SUZ12 (<a href="/entry/606245">606245</a>), and EED. EZH2 contains a SET domain, a signature motif for all known histone lysine methyltransferases except the H3-K79 methyltransferase DOT1, and is therefore likely to be the catalytic subunit. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12351676" 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="Plath, K., Fang, J., Mlynarczyk-Evans, S. K., Cao, R., Worringer, K. A., Wang, H., de la Cruz, C. C., Otte, A. P., Panning, B., Zhang, Y. <strong>Role of histone H3 lysine 27 methylation in X inactivation.</strong> Science 300: 131-135, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12649488/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12649488</a>] [<a href="https://doi.org/10.1126/science.1084274" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12649488">Plath et al. (2003)</a> demonstrated that transient recruitment of the EED-EZH2 complex to the inactive X chromosome occurs during initiation of X inactivation in both extraembryonic and embryonic cells and is accompanied by H3-K27 methylation. Recruitment of the complex and methylation on the inactive X depend on Xist (<a href="/entry/314670">314670</a>) RNA but are independent of its silencing function. <a href="#12" class="mim-tip-reference" title="Plath, K., Fang, J., Mlynarczyk-Evans, S. K., Cao, R., Worringer, K. A., Wang, H., de la Cruz, C. C., Otte, A. P., Panning, B., Zhang, Y. <strong>Role of histone H3 lysine 27 methylation in X inactivation.</strong> Science 300: 131-135, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12649488/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12649488</a>] [<a href="https://doi.org/10.1126/science.1084274" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12649488">Plath et al. (2003)</a> concluded that taken together, their results suggest a role for EED-EZH2-mediated H3-K27 methylation during initiation of both imprinted and random X inactivation and demonstrate that H3-K27 methylation is not sufficient for silencing of the inactive X. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12649488" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>To gain insight into the role of Polycomb group (PcG) proteins in embryonic stem (ES) cells, <a href="#1" class="mim-tip-reference" title="Boyer, L. A., Plath, K., Zeitlinger, J., Brambrink, T., Medeiros, L. A., Lee, T. I., Levine, S. S., Wernig, M., Tajonar, A., Ray, M. K., Bell, G. W., Otte, A. P., Vidal, M., Gifford, D. K., Young, R. A., Jaenisch, R. <strong>Polycomb complexes repress developmental regulators in murine embryonic stem cells.</strong> Nature 441: 349-353, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16625203/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16625203</a>] [<a href="https://doi.org/10.1038/nature04733" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16625203">Boyer et al. (2006)</a> identified the genes occupied by PcG proteins in murine ES cells by performing genomewide location analysis using antibodies against core components of PRC1 (Phc1, <a href="/entry/602978">602978</a> and Rnf2, <a href="/entry/608985">608985</a>) and PRC2 (Suz12 and Eed). <a href="#1" class="mim-tip-reference" title="Boyer, L. A., Plath, K., Zeitlinger, J., Brambrink, T., Medeiros, L. A., Lee, T. I., Levine, S. S., Wernig, M., Tajonar, A., Ray, M. K., Bell, G. W., Otte, A. P., Vidal, M., Gifford, D. K., Young, R. A., Jaenisch, R. <strong>Polycomb complexes repress developmental regulators in murine embryonic stem cells.</strong> Nature 441: 349-353, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16625203/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16625203</a>] [<a href="https://doi.org/10.1038/nature04733" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16625203">Boyer et al. (2006)</a> found that the Polycomb repressive complexes PRC1 and PRC2 co-occupied 512 genes, many of which encode transcription factors with important roles in development. All of the co-occupied genes contained modified nucleosomes (trimethylated lys27 on histone H3; see <a href="/entry/602810">602810</a>). Consistent with a causal role in gene silencing in ES cells, PcG target genes were derepressed in cells deficient for the PRC2 component Eed, and were preferentially activated on induction of differentiation. <a href="#1" class="mim-tip-reference" title="Boyer, L. A., Plath, K., Zeitlinger, J., Brambrink, T., Medeiros, L. A., Lee, T. I., Levine, S. S., Wernig, M., Tajonar, A., Ray, M. K., Bell, G. W., Otte, A. P., Vidal, M., Gifford, D. K., Young, R. A., Jaenisch, R. <strong>Polycomb complexes repress developmental regulators in murine embryonic stem cells.</strong> Nature 441: 349-353, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16625203/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16625203</a>] [<a href="https://doi.org/10.1038/nature04733" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16625203">Boyer et al. (2006)</a> concluded that dynamic repression of developmental pathways by Polycomb complexes may be required for maintaining ES cell pluripotency and plasticity during embryonic development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16625203" 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 mass spectrometric analysis, <a href="#7" class="mim-tip-reference" title="Higa, L. A., Wu, M., Ye, T., Kobayashi, R., Sun, H., Zhang, H. <strong>CUL4-DDB1 ubiquitin ligase interacts with multiple WD40-repeat proteins and regulates histone methylation.</strong> Nature Cell Biol. 8: 1277-1283, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17041588/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17041588</a>] [<a href="https://doi.org/10.1038/ncb1490" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17041588">Higa et al. (2006)</a> identified over 20 WD40 repeat-containing (WDR) proteins that interacted with the CUL4 (see <a href="/entry/603137">603137</a>)-DDB1 (<a href="/entry/600045">600045</a>)-ROC1 (RBX1; <a href="/entry/603814">603814</a>) complex, including EED. Sequence alignment revealed that most of the interacting WDR proteins had a centrally positioned WDxR/K submotif. Knockdown studies suggested that the WDR proteins functioned as substrate-specific adaptors. For example, inactivation of L2DTL (DTL; <a href="/entry/610617">610617</a>), but not other WDR proteins, prevented CUL4-DDB1-dependent proteolysis of CDT1 (<a href="/entry/605525">605525</a>) following gamma irradiation. Inactivation of WDR5 (<a href="/entry/609012">609012</a>) or EED, but not other WDR proteins, altered the pattern of CUL4-DDB1-dependent histone H3 methylation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17041588" 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>The gene silencing activity of the Polycomb repressive complex-2 (PRC2; see <a href="/entry/601674">601674</a>) depends on its ability to trimethylate lys27 of histone 3 (H3K27) by the catalytic SET domain of the EZH2 (<a href="/entry/601573">601573</a>) subunit and at least 2 other subunits of the complex: SUZ12 (<a href="/entry/606245">606245</a>) and EED. <a href="#10" class="mim-tip-reference" title="Margueron, R., Justin, N., Ohno, K., Sharpe, M. L., Son, J., Drury, W. J., III, Voigt, P., Martin, S. R., Taylor, W. R., De Marco, V., Pirrotta, V., Reinberg, D., Gamblin, S. J. <strong>Role of the polycomb protein EED in the propagation of repressive histone marks.</strong> Nature 461: 762-767, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19767730/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19767730</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19767730[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature08398" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19767730">Margueron et al. (2009)</a> showed that the carboxy-terminal domain of EED specifically binds to histone tails carrying trimethyl-lysine residues associated with repressive chromatin marks, and that this leads to the allosteric activation of the methyltransferase activity of PRC2. Mutations in EED that prevent it from recognizing repressive trimethyl-lysine marks abolished the activation of PRC2 in vitro and, in Drosophila, reduced global methylation and disrupted development. <a href="#10" class="mim-tip-reference" title="Margueron, R., Justin, N., Ohno, K., Sharpe, M. L., Son, J., Drury, W. J., III, Voigt, P., Martin, S. R., Taylor, W. R., De Marco, V., Pirrotta, V., Reinberg, D., Gamblin, S. J. <strong>Role of the polycomb protein EED in the propagation of repressive histone marks.</strong> Nature 461: 762-767, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19767730/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19767730</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19767730[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature08398" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19767730">Margueron et al. (2009)</a> concluded that their findings suggested a model for the propagation of the H3K27 methyl-3 mark that accounts for the maintenance of repressive chromatin domains and for the transmission of a histone modification from mother to daughter cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19767730" 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 FISH, <a href="#14" class="mim-tip-reference" title="Schumacher, A., Lichtarge, O., Schwartz, S., Magnuson, T. <strong>The murine Polycomb-group gene eed and its human orthologue: functional implications of evolutionary conservation.</strong> Genomics 54: 79-88, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9806832/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9806832</a>] [<a href="https://doi.org/10.1006/geno.1998.5509" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9806832">Schumacher et al. (1998)</a> mapped the EED gene to 11q14.2-q22.3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9806832" 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 27-year-old man, born of unrelated Turkish parents, with Cohen-Gibson syndrome (COGIS; <a href="/entry/617561">617561</a>), <a href="#4" class="mim-tip-reference" title="Cohen, A. S. A., Tuysuz, B., Shen, Y., Bhalla, S. K., Jones, S. J. M., Gibson, W. T. <strong>A novel mutation in EED associated with overgrowth.</strong> J. Hum. Genet. 60: 339-342, 2015. Note: Erratum: J. Hum. Genet. 62: 341-342, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25787343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25787343</a>] [<a href="https://doi.org/10.1038/jhg.2015.26" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25787343">Cohen et al. (2015)</a> identified a de novo heterozygous missense mutation in the EED gene (R302S; <a href="#0001">605984.0001</a>). The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25787343" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 22-year-old man, born of unrelated Caucasian parents, with COGIS, <a href="#3" class="mim-tip-reference" title="Cohen, A. S. A., Gibson, W. T. <strong>EED-associated overgrowth in a second male patient.</strong> J. Hum. Genet. 61: 831-834, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27193220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27193220</a>] [<a href="https://doi.org/10.1038/jhg.2016.51" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27193220">Cohen and Gibson (2016)</a> identified a de novo heterozygous missense mutation in the EED gene (H258Y; <a href="#0002">605984.0002</a>). The mutation was found by Sanger sequencing. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27193220" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 16-year-old girl, born of unrelated Hispanic parents, with COGIS, <a href="#5" class="mim-tip-reference" title="Cooney, E., Bi, W., Schlesinger, A. E., Vinson, S., Potocki, L. <strong>Novel EED mutation in patient with Weaver syndrome.</strong> Am. J. Med. Genet. 173A: 541-545, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27868325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27868325</a>] [<a href="https://doi.org/10.1002/ajmg.a.38055" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27868325">Cooney et al. (2017)</a> identified a heterozygous missense mutation in the EED gene (R302G; <a href="#0003">605984.0003</a>). The mutation, which was found by whole-exome sequencing, was not present in the mother; the father was unavailable for testing. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27868325" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 5-year-old Japanese boy with COGIS, <a href="#9" class="mim-tip-reference" title="Imagawa, E., Higashimoto, K., Sakai, Y., Numakura, C., Okamoto, N., Matsunaga, S., Ryo, A., Sato, Y., Sanefuji, M., Ihara, K., Takada, Y., Nishimura, G., Saitsu, H., Mizuguchi, T., Miyatake, S., Nakashima, M., Miyake, N., Soejima, H., Matsumoto, N. <strong>Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.</strong> Hum. Mutat. 38: 637-648, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28229514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28229514</a>] [<a href="https://doi.org/10.1002/humu.23200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28229514">Imagawa et al. (2017)</a> identified a de novo heterozygous missense mutation in the EED gene (R236T; <a href="#0004">605984.0004</a>). The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. In vitro functional expression studies showed that the R236T and R302S mutant proteins were associated with decreased levels of H3K27me3 compared to wildtype, and Western blot analysis of patient cells with the R236T mutation also showed loss of H3K27me3, consistent with loss of PRC2 activity and a loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28229514" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Ikeda, K., Ueda, T., Yamasaki, N., Nakata, Y., Sera, Y., Nagamachi, A., Miyama, T., Kobayashi, H., Takubo, K., Kanai, A., Oda, H., Wolff, L., Honda, Z., Ichinohe, T., Matsubara, A., Suda, T., Inaba, T., Honda, H. <strong>Maintenance of the functional integrity of mouse hematopoiesis by EED and promotion of leukemogenesis by EED haploinsufficiency.</strong> Sci. Rep. 6: 29454, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27432459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27432459</a>] [<a href="https://doi.org/10.1038/srep29454" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27432459">Ikeda et al. (2016)</a> found that mice with a conditional deletion of Eed exhibited early death accompanied by a rapid decrease in hemopoietic cells, particularly stem/progenitor cells (HSPCs), with impaired bone marrow repopulation ability. Cell cycle analysis of HSPCs demonstrated increased S-phase fraction and suppressed G0/G1 entry. Eed-deleted HSPCs showed enrichment of genes encoding cell adhesion molecules and increased attachment to fibronectin (FN1; <a href="/entry/135600">135600</a>). <a href="#8" class="mim-tip-reference" title="Ikeda, K., Ueda, T., Yamasaki, N., Nakata, Y., Sera, Y., Nagamachi, A., Miyama, T., Kobayashi, H., Takubo, K., Kanai, A., Oda, H., Wolff, L., Honda, Z., Ichinohe, T., Matsubara, A., Suda, T., Inaba, T., Honda, H. <strong>Maintenance of the functional integrity of mouse hematopoiesis by EED and promotion of leukemogenesis by EED haploinsufficiency.</strong> Sci. Rep. 6: 29454, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27432459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27432459</a>] [<a href="https://doi.org/10.1038/srep29454" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27432459">Ikeda et al. (2016)</a> proposed that Eed deficiency increases proliferation and promotes quiescence, possibly by enhanced adhesion to the hemopoietic niche, leading to abnormal differentiation and functional defects. Eed haploinsufficiency induced hemopoietic dysplasia. Mice heterozygous for Eed deletion were susceptible to malignant transformation and developed leukemia accompanied by Evi1 (MECOM; <a href="/entry/165215">165215</a>) overexpression. <a href="#8" class="mim-tip-reference" title="Ikeda, K., Ueda, T., Yamasaki, N., Nakata, Y., Sera, Y., Nagamachi, A., Miyama, T., Kobayashi, H., Takubo, K., Kanai, A., Oda, H., Wolff, L., Honda, Z., Ichinohe, T., Matsubara, A., Suda, T., Inaba, T., Honda, H. <strong>Maintenance of the functional integrity of mouse hematopoiesis by EED and promotion of leukemogenesis by EED haploinsufficiency.</strong> Sci. Rep. 6: 29454, 2016. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27432459/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27432459</a>] [<a href="https://doi.org/10.1038/srep29454" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27432459">Ikeda et al. (2016)</a> concluded that EED has differentiation stage-specific and dose-dependent roles in normal hemopoiesis and leukemogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27432459" 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>EED interacts with trimethylated histone H3K27 through its aromatic cage structure composed of phe97, trp364, and tyr365. This interaction activates the histone methyltransferase activity of PRC2 and propagates repressive histone marks. <a href="#16" class="mim-tip-reference" title="Ueda, T., Nakata, Y., Nagamachi, A., Yamasaki, N., Kanai, A., Sera, Y., Sasaki, M., Matsui, H., Honda, Z., Oda, H., Wolff, L., Inaba, T., Honda, H. <strong>Propagation of trimethylated H3K27 regulated by polycomb protein EED is required for embryogenesis, hematopoietic maintenance, and tumor suppression.</strong> Proc. Nat. Acad. Sci. 113: 10370-10375, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27578866/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27578866</a>] [<a href="https://doi.org/10.1073/pnas.1600070113" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27578866">Ueda et al. (2016)</a> generated mice expressing a myeloid disorder-associated Eed mutation, ile363 to met (I363M), analogous to mutations in the aromatic cage. Mice homozygous for I363M showed preferential reduction of trimethylated H3K27 and died at midgestation. Heterozygotes showed increased clonogenic capacity and bone marrow-repopulating activity in HSPCs and were susceptible to leukemia. The PRC2 target gene, Lgals3 (<a href="/entry/153619">153619</a>), which encodes a multifunctional galactose-binding lectin, was derepressed in heterozygotes and enhanced the stem cell features of HSPCs. <a href="#16" class="mim-tip-reference" title="Ueda, T., Nakata, Y., Nagamachi, A., Yamasaki, N., Kanai, A., Sera, Y., Sasaki, M., Matsui, H., Honda, Z., Oda, H., Wolff, L., Inaba, T., Honda, H. <strong>Propagation of trimethylated H3K27 regulated by polycomb protein EED is required for embryogenesis, hematopoietic maintenance, and tumor suppression.</strong> Proc. Nat. Acad. Sci. 113: 10370-10375, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27578866/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27578866</a>] [<a href="https://doi.org/10.1073/pnas.1600070113" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27578866">Ueda et al. (2016)</a> concluded that the structural integrity of EED to H3K27 trimethylation propagation is critical for embryonic development and hemopoietic homeostasis, and that perturbation of this structure leads to increased predisposition to hematologic malignancies. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27578866" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<strong>4 Selected Examples</a>):</strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=605984[MIM]" class="btn btn-default mim-tip-hint" role="button" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs1131692173 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1131692173;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=rs1131692173" 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=rs1131692173" 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=RCV000495739" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000495739" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000495739</a>
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<p>In a 27-year-old man, born of unrelated Turkish parents, with Cohen-Gibson syndrome (COGIS; <a href="/entry/617561">617561</a>), <a href="#4" class="mim-tip-reference" title="Cohen, A. S. A., Tuysuz, B., Shen, Y., Bhalla, S. K., Jones, S. J. M., Gibson, W. T. <strong>A novel mutation in EED associated with overgrowth.</strong> J. Hum. Genet. 60: 339-342, 2015. Note: Erratum: J. Hum. Genet. 62: 341-342, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25787343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25787343</a>] [<a href="https://doi.org/10.1038/jhg.2015.26" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25787343">Cohen et al. (2015)</a> identified a de novo heterozygous c.906A-C transversion (c.906A-C, NM_003797.3) in the EED gene, resulting in an arg302-to-ser (R302S) substitution at a conserved residue in a WD40 domain that is required for H3K27 methylation and is possibly necessary for the EED-EZH2 interaction. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the dbSNP or Exome Variant Server databases, or in an in-house database of 587 Turkish exomes. Functional studies of the variant and studies of patient cells were not performed. (In the article by <a href="#4" class="mim-tip-reference" title="Cohen, A. S. A., Tuysuz, B., Shen, Y., Bhalla, S. K., Jones, S. J. M., Gibson, W. T. <strong>A novel mutation in EED associated with overgrowth.</strong> J. Hum. Genet. 60: 339-342, 2015. Note: Erratum: J. Hum. Genet. 62: 341-342, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25787343/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25787343</a>] [<a href="https://doi.org/10.1038/jhg.2015.26" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25787343">Cohen et al. (2015)</a>, the nucleotide change was reported as a c.1372A-C transversion; <a href="#6" class="mim-tip-reference" title="Gibson, W. T. <strong>Personal Communication.</strong> Vancouver, British Columbia, Canada July 13, 2017."None>Gibson (2017)</a> confirmed that the correct change is c.906A-C.) <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25787343" 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>Through in vitro functional expression studies, <a href="#9" class="mim-tip-reference" title="Imagawa, E., Higashimoto, K., Sakai, Y., Numakura, C., Okamoto, N., Matsunaga, S., Ryo, A., Sato, Y., Sanefuji, M., Ihara, K., Takada, Y., Nishimura, G., Saitsu, H., Mizuguchi, T., Miyatake, S., Nakashima, M., Miyake, N., Soejima, H., Matsumoto, N. <strong>Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.</strong> Hum. Mutat. 38: 637-648, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28229514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28229514</a>] [<a href="https://doi.org/10.1002/humu.23200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28229514">Imagawa et al. (2017)</a> demonstrated that the R302S mutant protein was associated with decreased levels of H3K27me3 compared to wildtype, consistent with loss of PRC2 activity and a loss of function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28229514" 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">rs1131692174 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1131692174;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=rs1131692174" 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=rs1131692174" 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=RCV000494950" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000494950" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000494950</a>
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<p>In a 22-year-old man, born of unrelated Caucasian parents, with Cohen-Gibson syndrome (COGIS; <a href="/entry/617561">617561</a>), <a href="#3" class="mim-tip-reference" title="Cohen, A. S. A., Gibson, W. T. <strong>EED-associated overgrowth in a second male patient.</strong> J. Hum. Genet. 61: 831-834, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27193220/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27193220</a>] [<a href="https://doi.org/10.1038/jhg.2016.51" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27193220">Cohen and Gibson (2016)</a> identified a de novo heterozygous c.772C-T transition (c.772C-T, NM_003797.4) in the EED gene, resulting in a his258-to-tyr (H258Y) substitution at a conserved residue in the fourth WD40 domain that is required for H3K27 methylation and is possibly necessary for the EED-EZH2 interaction. The mutation, which was found by Sanger sequencing, was not found in the dbSNP or Exome Variant Server databases. Functional studies of the variant and studies of patient cells were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27193220" 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">rs1131692175 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1131692175;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=rs1131692175" 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=rs1131692175" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 16-year-old girl, born of unrelated Hispanic parents, with Cohen-Gibson syndrome (COGIS; <a href="/entry/617561">617561</a>), <a href="#5" class="mim-tip-reference" title="Cooney, E., Bi, W., Schlesinger, A. E., Vinson, S., Potocki, L. <strong>Novel EED mutation in patient with Weaver syndrome.</strong> Am. J. Med. Genet. 173A: 541-545, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27868325/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27868325</a>] [<a href="https://doi.org/10.1002/ajmg.a.38055" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27868325">Cooney et al. (2017)</a> identified a heterozygous c.904A-G transition in the EED gene, resulting in an arg302-to-gly (R302G) substitution. The mutation, which was found by whole-exome sequencing, was not present in the mother; the father was unavailable for testing. The mutation was not found in the 1000 Genomes Project or ExAC databases. Functional studies of the variant and studies of patient cells were not performed. The mutation occurred at the same residue as another putatively pathogenic EED mutation (R302S; <a href="#0001">605984.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27868325" 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">rs1131692176 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1131692176;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=rs1131692176" 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=rs1131692176" 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=RCV000495685" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000495685" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000495685</a>
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<p>In a 5-year-old Japanese boy with Cohen-Gibson syndrome (COGIS; <a href="/entry/617561">617561</a>), <a href="#9" class="mim-tip-reference" title="Imagawa, E., Higashimoto, K., Sakai, Y., Numakura, C., Okamoto, N., Matsunaga, S., Ryo, A., Sato, Y., Sanefuji, M., Ihara, K., Takada, Y., Nishimura, G., Saitsu, H., Mizuguchi, T., Miyatake, S., Nakashima, M., Miyake, N., Soejima, H., Matsumoto, N. <strong>Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.</strong> Hum. Mutat. 38: 637-648, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28229514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28229514</a>] [<a href="https://doi.org/10.1002/humu.23200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28229514">Imagawa et al. (2017)</a> identified a de novo heterozygous c.707G-C transversion in the EED gene, resulting in an arg236-to-thr (R236T) substitution at a highly conserved residue between the WD40 repeats. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the dbSNP (build 137), 1000 Genomes Project, Exome Sequencing Project, or ExAC databases, or in an in-house database of 575 Japanese exomes. In vitro functional expression studies showed that the mutant protein was associated with decreased levels of H3K27me3 compared to wildtype, consistent with a loss of function. Western blot analysis of patient cells also showed loss of H3K27me3. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28229514" 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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Imagawa, E., Higashimoto, K., Sakai, Y., Numakura, C., Okamoto, N., Matsunaga, S., Ryo, A., Sato, Y., Sanefuji, M., Ihara, K., Takada, Y., Nishimura, G., Saitsu, H., Mizuguchi, T., Miyatake, S., Nakashima, M., Miyake, N., Soejima, H., Matsumoto, N.
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<strong>Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28229514/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28229514</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28229514" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9584199/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9584199</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9584199[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=9584199" 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.18.6.3586" target="_blank">Full Text</a>]
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<a id="16" class="mim-anchor"></a>
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<a id="Ueda2016" class="mim-anchor"></a>
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<p class="mim-text-font">
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Ueda, T., Nakata, Y., Nagamachi, A., Yamasaki, N., Kanai, A., Sera, Y., Sasaki, M., Matsui, H., Honda, Z., Oda, H., Wolff, L., Inaba, T., Honda, H.
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<strong>Propagation of trimethylated H3K27 regulated by polycomb protein EED is required for embryogenesis, hematopoietic maintenance, and tumor suppression.</strong>
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Proc. Nat. Acad. Sci. 113: 10370-10375, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27578866/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27578866</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27578866" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.1600070113" target="_blank">Full Text</a>]
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<a id="17" class="mim-anchor"></a>
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<a id="Wang2001" class="mim-anchor"></a>
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<p class="mim-text-font">
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Wang, J., Mager, J., Chen, Y., Schneider, E., Cross, J. C., Nagy, A., Magnuson, T.
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<strong>Imprinted X inactivation maintained by a mouse Polycomb group gene.</strong>
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Nature Genet. 28: 371-375, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11479595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11479595</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11479595" 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/ng574" target="_blank">Full Text</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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Paul J. Converse - updated : 07/17/2017
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 07/06/2017<br>Patricia A. Hartz - updated : 03/05/2013<br>Ada Hamosh - updated : 11/5/2009<br>Ada Hamosh - updated : 6/1/2006<br>Ada Hamosh - updated : 4/15/2003<br>Ada Hamosh - updated : 11/13/2002<br>Ada Hamosh - updated : 7/26/2001
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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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Ethylin Wang Jabs : 5/13/1999
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<span class="mim-text-font">
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carol : 08/26/2019
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<span class="mim-text-font">
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carol : 07/17/2017<br>mgross : 07/17/2017<br>mgross : 07/17/2017<br>carol : 07/12/2017<br>carol : 07/11/2017<br>ckniffin : 07/06/2017<br>mgross : 03/05/2013<br>mgross : 2/5/2013<br>alopez : 11/9/2009<br>terry : 11/5/2009<br>alopez : 6/2/2006<br>alopez : 6/2/2006<br>terry : 6/1/2006<br>alopez : 4/17/2003<br>terry : 4/15/2003<br>alopez : 11/14/2002<br>terry : 11/13/2002<br>alopez : 7/31/2001<br>terry : 7/26/2001<br>mgross : 6/4/2001<br>mgross : 6/1/2001
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<span class="mim-font">
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<strong>*</strong> 605984
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EMBRYONIC ECTODERM DEVELOPMENT; EED
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<em>Alternative titles; symbols</em>
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EMBRYONIC ECTODERM DEVELOPMENT PROTEIN, MOUSE, HOMOLOG OF<br />
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EED, MOUSE, HOMOLOG OF<br />
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WD PROTEIN ASSOCIATING WITH INTEGRIN CYTOPLASMIC TAILS 1; WAIT1
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<strong><em>HGNC Approved Gene Symbol: EED</em></strong>
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Cytogenetic location: 11q14.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 11:86,244,753-86,287,615 </span>
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</em>
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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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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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11q14.2
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Cohen-Gibson syndrome
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<span class="mim-font">
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617561
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Autosomal dominant
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<span class="mim-font">
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3
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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 EED gene encodes an evolutionarily conserved polycomb group (PcG) protein that forms a specific complex, the polycomb repressive complex-2 (PRC2), with 3 other PcG proteins: EZH2 (601573), SUZ12 (606245), and RBBP7/4 (300825/602923). EED and EZH2 are core components of the PRC2, which possesses histone methyltransferase activity and catalyzes trimethylation of histone H3 at lysine 27 (H3K27). The PRC2 complex plays an essential role in regulating chromatin structure and acts as an important regulator of cell development and differentiation during embryogenesis. It also regulates adult tissues through epigenetic gene repression (summary by Imagawa et al., 2017). </p>
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<strong>Cloning and Expression</strong>
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<p>In Drosophila, the Polycomb-group (PcG) and trithorax-group (trxG) genes are part of a cellular memory system responsible for the stable inheritance of gene activity. PcG and trxG genes are repressors and activators, respectively, of Drosophila homeotic gene expression. ENX1 (EZH2; 601573) is a mammalian homolog of the Drosophila 'enhancer of zeste' gene and has domains with sequence homology to both PcG and trxG genes. Using a yeast 2-hybrid screen with ENX1 as bait, followed by screening a fetal brain cDNA library, Sewalt et al. (1998) isolated a cDNA encoding EED. EED is the human homolog of Eed, a murine PcG gene homologous to the Drosophila homeotic gene, 'extra sex combs.' The predicted 535-amino acid human EED protein is 100% identical to the murine protein. The N-terminal region of EED contains a putative PEST sequence, which is implicated in protein degradation, and there are 5 WD40 domains throughout the EED protein. WD40 domains are involved in protein-protein interactions, and Sewalt et al. (1998) showed that all 5 are necessary for the ENX1-EED interaction to occur. Northern blot analysis detected 1.5- and 2.0-kb EED transcripts in all tissues and cell lines tested; larger transcripts were detected in normal human tissues only, but at much lower levels. Highest expression was found in testis, spleen, prostate, ovary, and small intestine, as well as in colorectal adenocarcinoma, chronic myeloid leukemia, and osteosarcoma cell lines, with lower levels in thymus, colon, and peripheral blood leukocytes. </p><p>Beta-7 integrins (ITGB7; 147559) are involved in the development and/or progression of diseases such as colitis, diabetic insulitis, and lymphoid malignancies, and they play an important role for physiologic functions and pathologic alterations of the immune system. Using a yeast 2-hybrid screen on a Jurkat cell cDNA library with the cytoplasmic tail of ITGB7 as bait, Rietzler et al. (1998) isolated a cDNA encoding EED, which they designated WAIT1. The deduced 441-amino acid protein has a region homologous to a repeat motif in the RCC1 protein (179710) and a region homologous to a repeat motif from the beta subunit of heterotrimeric G proteins (see 139380). </p>
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<span class="mim-font">
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<strong>Gene Function</strong>
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<p>Sewalt et al. (1998) found that ENX1 and EED coimmunoprecipitate, indicating that they also interact in vivo. They do not, however, interact with other PcG proteins, such as PC2 (603079) and BMI1 (164831). Furthermore, ENX1 and EED do not colocalize with HPC2 or BMI1 in nuclear domains of U-2 OS osteosarcoma cells. </p><p>Rietzler et al. (1998) demonstrated that EED interacts with the ITGB7 cytoplasmic tail, which regulates receptor avidity and signaling, by coprecipitation from transiently transfected 293 cells. Tyr735 of ITGB7 was critical for the interaction. EED also interacts with the cytoplasmic domains of ITGA4 (192975) and ITGAE (604682), but not with those of ITGB1 (135630), ITGB2 (600065), and ITGAL (153370). The authors concluded that EED may act as a specific regulator of integrin function. </p><p>Peytavi et al. (1999) isolated cDNAs encoding EED using the yeast 2-hybrid system on an activated lymphocyte cDNA library with the human immunodeficiency virus-1 (HIV-1) matrix (MA) protein as bait. EED was found to bind MA in vitro and in vivo in yeast cells. The MA and EED proteins colocalized within the nucleus of cotransfected human cells. This and the failure of EED to bind to uncleaved GAG precursor suggested a role for EED at the early stages of virus infection, rather than late in the virus life cycle. </p><p>In marsupials and the extraembryonic region of the mouse, X inactivation is imprinted: the paternal X chromosome is preferentially inactivated whereas the maternal X is always active. Having more than 1 active X chromosome is deleterious to extraembryonic development in the mouse. Wang et al. (2001) showed that the eed gene is required for primary and secondary trophoblast giant cell development in female embryos. Results from mice carrying a paternally inherited X-linked GFP transgene implicated eed in the stable maintenance of imprinted X inactivation in extraembryonic tissues. Based on the recent finding that the EED protein interacts with histone deacetylases, Wang et al. (2001) suggested that this maintenance activity involves hypoacetylation of the inactivated paternal X chromosome in the extraembryonic tissues. </p><p>Cao et al. (2002) reported the purification and characterization of an EED-EZH2 complex, the human counterpart of the Drosophila ESC-E(Z) complex. Cao et al. (2002) demonstrated that the complex specifically methylates nucleosomal histone H3 (see 602812) at lysine-27 (H3-K27). Using chromatin immunoprecipitation assays, Cao et al. (2002) showed that H3-K27 methylation colocalizes with, and is dependent on, E(Z) binding at an 'Ultrabithorax' (Ubx) Polycomb response element, and that this methylation correlates with Ubx expression. Methylation on H3-K27 facilitates binding of Polycomb, a component of the Polycomb repressive complex 1 (PRC1 complex), to the histone H3 N-terminal tail. Thus, Cao et al. (2002) concluded that their studies established a link between histone methylation and Polycomb group-mediated gene silencing. The complex responsible for histone methyltransferase activity includes EZH2 (601573), SUZ12 (606245), and EED. EZH2 contains a SET domain, a signature motif for all known histone lysine methyltransferases except the H3-K79 methyltransferase DOT1, and is therefore likely to be the catalytic subunit. </p><p>Plath et al. (2003) demonstrated that transient recruitment of the EED-EZH2 complex to the inactive X chromosome occurs during initiation of X inactivation in both extraembryonic and embryonic cells and is accompanied by H3-K27 methylation. Recruitment of the complex and methylation on the inactive X depend on Xist (314670) RNA but are independent of its silencing function. Plath et al. (2003) concluded that taken together, their results suggest a role for EED-EZH2-mediated H3-K27 methylation during initiation of both imprinted and random X inactivation and demonstrate that H3-K27 methylation is not sufficient for silencing of the inactive X. </p><p>To gain insight into the role of Polycomb group (PcG) proteins in embryonic stem (ES) cells, Boyer et al. (2006) identified the genes occupied by PcG proteins in murine ES cells by performing genomewide location analysis using antibodies against core components of PRC1 (Phc1, 602978 and Rnf2, 608985) and PRC2 (Suz12 and Eed). Boyer et al. (2006) found that the Polycomb repressive complexes PRC1 and PRC2 co-occupied 512 genes, many of which encode transcription factors with important roles in development. All of the co-occupied genes contained modified nucleosomes (trimethylated lys27 on histone H3; see 602810). Consistent with a causal role in gene silencing in ES cells, PcG target genes were derepressed in cells deficient for the PRC2 component Eed, and were preferentially activated on induction of differentiation. Boyer et al. (2006) concluded that dynamic repression of developmental pathways by Polycomb complexes may be required for maintaining ES cell pluripotency and plasticity during embryonic development. </p><p>By mass spectrometric analysis, Higa et al. (2006) identified over 20 WD40 repeat-containing (WDR) proteins that interacted with the CUL4 (see 603137)-DDB1 (600045)-ROC1 (RBX1; 603814) complex, including EED. Sequence alignment revealed that most of the interacting WDR proteins had a centrally positioned WDxR/K submotif. Knockdown studies suggested that the WDR proteins functioned as substrate-specific adaptors. For example, inactivation of L2DTL (DTL; 610617), but not other WDR proteins, prevented CUL4-DDB1-dependent proteolysis of CDT1 (605525) following gamma irradiation. Inactivation of WDR5 (609012) or EED, but not other WDR proteins, altered the pattern of CUL4-DDB1-dependent histone H3 methylation. </p><p>The gene silencing activity of the Polycomb repressive complex-2 (PRC2; see 601674) depends on its ability to trimethylate lys27 of histone 3 (H3K27) by the catalytic SET domain of the EZH2 (601573) subunit and at least 2 other subunits of the complex: SUZ12 (606245) and EED. Margueron et al. (2009) showed that the carboxy-terminal domain of EED specifically binds to histone tails carrying trimethyl-lysine residues associated with repressive chromatin marks, and that this leads to the allosteric activation of the methyltransferase activity of PRC2. Mutations in EED that prevent it from recognizing repressive trimethyl-lysine marks abolished the activation of PRC2 in vitro and, in Drosophila, reduced global methylation and disrupted development. Margueron et al. (2009) concluded that their findings suggested a model for the propagation of the H3K27 methyl-3 mark that accounts for the maintenance of repressive chromatin domains and for the transmission of a histone modification from mother to daughter cells. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>By FISH, Schumacher et al. (1998) mapped the EED gene to 11q14.2-q22.3. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In a 27-year-old man, born of unrelated Turkish parents, with Cohen-Gibson syndrome (COGIS; 617561), Cohen et al. (2015) identified a de novo heterozygous missense mutation in the EED gene (R302S; 605984.0001). The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. Functional studies of the variant and studies of patient cells were not performed. </p><p>In a 22-year-old man, born of unrelated Caucasian parents, with COGIS, Cohen and Gibson (2016) identified a de novo heterozygous missense mutation in the EED gene (H258Y; 605984.0002). The mutation was found by Sanger sequencing. Functional studies of the variant and studies of patient cells were not performed. </p><p>In a 16-year-old girl, born of unrelated Hispanic parents, with COGIS, Cooney et al. (2017) identified a heterozygous missense mutation in the EED gene (R302G; 605984.0003). The mutation, which was found by whole-exome sequencing, was not present in the mother; the father was unavailable for testing. Functional studies of the variant and studies of patient cells were not performed. </p><p>In a 5-year-old Japanese boy with COGIS, Imagawa et al. (2017) identified a de novo heterozygous missense mutation in the EED gene (R236T; 605984.0004). The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. In vitro functional expression studies showed that the R236T and R302S mutant proteins were associated with decreased levels of H3K27me3 compared to wildtype, and Western blot analysis of patient cells with the R236T mutation also showed loss of H3K27me3, consistent with loss of PRC2 activity and a loss of function. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Ikeda et al. (2016) found that mice with a conditional deletion of Eed exhibited early death accompanied by a rapid decrease in hemopoietic cells, particularly stem/progenitor cells (HSPCs), with impaired bone marrow repopulation ability. Cell cycle analysis of HSPCs demonstrated increased S-phase fraction and suppressed G0/G1 entry. Eed-deleted HSPCs showed enrichment of genes encoding cell adhesion molecules and increased attachment to fibronectin (FN1; 135600). Ikeda et al. (2016) proposed that Eed deficiency increases proliferation and promotes quiescence, possibly by enhanced adhesion to the hemopoietic niche, leading to abnormal differentiation and functional defects. Eed haploinsufficiency induced hemopoietic dysplasia. Mice heterozygous for Eed deletion were susceptible to malignant transformation and developed leukemia accompanied by Evi1 (MECOM; 165215) overexpression. Ikeda et al. (2016) concluded that EED has differentiation stage-specific and dose-dependent roles in normal hemopoiesis and leukemogenesis. </p><p>EED interacts with trimethylated histone H3K27 through its aromatic cage structure composed of phe97, trp364, and tyr365. This interaction activates the histone methyltransferase activity of PRC2 and propagates repressive histone marks. Ueda et al. (2016) generated mice expressing a myeloid disorder-associated Eed mutation, ile363 to met (I363M), analogous to mutations in the aromatic cage. Mice homozygous for I363M showed preferential reduction of trimethylated H3K27 and died at midgestation. Heterozygotes showed increased clonogenic capacity and bone marrow-repopulating activity in HSPCs and were susceptible to leukemia. The PRC2 target gene, Lgals3 (153619), which encodes a multifunctional galactose-binding lectin, was derepressed in heterozygotes and enhanced the stem cell features of HSPCs. Ueda et al. (2016) concluded that the structural integrity of EED to H3K27 trimethylation propagation is critical for embryonic development and hemopoietic homeostasis, and that perturbation of this structure leads to increased predisposition to hematologic malignancies. </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>4 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 COHEN-GIBSON 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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EED, ARG302SER
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<br />
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SNP: rs1131692173,
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ClinVar: RCV000495739
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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 27-year-old man, born of unrelated Turkish parents, with Cohen-Gibson syndrome (COGIS; 617561), Cohen et al. (2015) identified a de novo heterozygous c.906A-C transversion (c.906A-C, NM_003797.3) in the EED gene, resulting in an arg302-to-ser (R302S) substitution at a conserved residue in a WD40 domain that is required for H3K27 methylation and is possibly necessary for the EED-EZH2 interaction. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the dbSNP or Exome Variant Server databases, or in an in-house database of 587 Turkish exomes. Functional studies of the variant and studies of patient cells were not performed. (In the article by Cohen et al. (2015), the nucleotide change was reported as a c.1372A-C transversion; Gibson (2017) confirmed that the correct change is c.906A-C.) </p><p>Through in vitro functional expression studies, Imagawa et al. (2017) demonstrated that the R302S mutant protein was associated with decreased levels of H3K27me3 compared to wildtype, consistent with loss of PRC2 activity and a loss of function. </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 COHEN-GIBSON 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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EED, HIS258TYR
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<br />
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SNP: rs1131692174,
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ClinVar: RCV000494950
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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 22-year-old man, born of unrelated Caucasian parents, with Cohen-Gibson syndrome (COGIS; 617561), Cohen and Gibson (2016) identified a de novo heterozygous c.772C-T transition (c.772C-T, NM_003797.4) in the EED gene, resulting in a his258-to-tyr (H258Y) substitution at a conserved residue in the fourth WD40 domain that is required for H3K27 methylation and is possibly necessary for the EED-EZH2 interaction. The mutation, which was found by Sanger sequencing, was not found in the dbSNP or Exome Variant Server databases. Functional studies of the variant and studies of patient cells were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 COHEN-GIBSON 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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EED, ARG302GLY
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<br />
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SNP: rs1131692175,
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ClinVar: RCV000495365
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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 16-year-old girl, born of unrelated Hispanic parents, with Cohen-Gibson syndrome (COGIS; 617561), Cooney et al. (2017) identified a heterozygous c.904A-G transition in the EED gene, resulting in an arg302-to-gly (R302G) substitution. The mutation, which was found by whole-exome sequencing, was not present in the mother; the father was unavailable for testing. The mutation was not found in the 1000 Genomes Project or ExAC databases. Functional studies of the variant and studies of patient cells were not performed. The mutation occurred at the same residue as another putatively pathogenic EED mutation (R302S; 605984.0001). </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>
|
|
<span class="mim-font">
|
|
<strong>.0004 COHEN-GIBSON SYNDROME</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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|
<span class="mim-text-font">
|
|
|
|
EED, ARG236THR
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|
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<br />
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|
|
SNP: rs1131692176,
|
|
|
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|
|
|
|
ClinVar: RCV000495685
|
|
|
|
|
|
</span>
|
|
</div>
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|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 5-year-old Japanese boy with Cohen-Gibson syndrome (COGIS; 617561), Imagawa et al. (2017) identified a de novo heterozygous c.707G-C transversion in the EED gene, resulting in an arg236-to-thr (R236T) substitution at a highly conserved residue between the WD40 repeats. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, was not found in the dbSNP (build 137), 1000 Genomes Project, Exome Sequencing Project, or ExAC databases, or in an in-house database of 575 Japanese exomes. In vitro functional expression studies showed that the mutant protein was associated with decreased levels of H3K27me3 compared to wildtype, consistent with a loss of function. Western blot analysis of patient cells also showed loss of H3K27me3. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
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</h4>
|
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<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">
|
|
Boyer, L. A., Plath, K., Zeitlinger, J., Brambrink, T., Medeiros, L. A., Lee, T. I., Levine, S. S., Wernig, M., Tajonar, A., Ray, M. K., Bell, G. W., Otte, A. P., Vidal, M., Gifford, D. K., Young, R. A., Jaenisch, R.
|
|
<strong>Polycomb complexes repress developmental regulators in murine embryonic stem cells.</strong>
|
|
Nature 441: 349-353, 2006.
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|
[PubMed: 16625203]
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[Full Text: https://doi.org/10.1038/nature04733]
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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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|
Cao, R., Wang, L., Wang, H., Xia, L., Erdjument-Bromage, H., Tempst, P., Jones, R. S., Zhang, Y.
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|
<strong>Role of histone H3 lysine 27 methylation in polycomb-group silencing.</strong>
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|
Science 298: 1039-1043, 2002.
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[PubMed: 12351676]
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[Full Text: https://doi.org/10.1126/science.1076997]
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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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|
Cohen, A. S. A., Gibson, W. T.
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<strong>EED-associated overgrowth in a second male patient.</strong>
|
|
J. Hum. Genet. 61: 831-834, 2016.
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[PubMed: 27193220]
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[Full Text: https://doi.org/10.1038/jhg.2016.51]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Cohen, A. S. A., Tuysuz, B., Shen, Y., Bhalla, S. K., Jones, S. J. M., Gibson, W. T.
|
|
<strong>A novel mutation in EED associated with overgrowth.</strong>
|
|
J. Hum. Genet. 60: 339-342, 2015. Note: Erratum: J. Hum. Genet. 62: 341-342, 2017.
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[PubMed: 25787343]
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[Full Text: https://doi.org/10.1038/jhg.2015.26]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Cooney, E., Bi, W., Schlesinger, A. E., Vinson, S., Potocki, L.
|
|
<strong>Novel EED mutation in patient with Weaver syndrome.</strong>
|
|
Am. J. Med. Genet. 173A: 541-545, 2017.
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[PubMed: 27868325]
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[Full Text: https://doi.org/10.1002/ajmg.a.38055]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Gibson, W. T.
|
|
<strong>Personal Communication.</strong>
|
|
Vancouver, British Columbia, Canada July 13, 2017.
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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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Higa, L. A., Wu, M., Ye, T., Kobayashi, R., Sun, H., Zhang, H.
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<strong>CUL4-DDB1 ubiquitin ligase interacts with multiple WD40-repeat proteins and regulates histone methylation.</strong>
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Nature Cell Biol. 8: 1277-1283, 2006.
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[PubMed: 17041588]
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[Full Text: https://doi.org/10.1038/ncb1490]
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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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Ikeda, K., Ueda, T., Yamasaki, N., Nakata, Y., Sera, Y., Nagamachi, A., Miyama, T., Kobayashi, H., Takubo, K., Kanai, A., Oda, H., Wolff, L., Honda, Z., Ichinohe, T., Matsubara, A., Suda, T., Inaba, T., Honda, H.
|
|
<strong>Maintenance of the functional integrity of mouse hematopoiesis by EED and promotion of leukemogenesis by EED haploinsufficiency.</strong>
|
|
Sci. Rep. 6: 29454, 2016. Note: Electronic Article.
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[PubMed: 27432459]
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[Full Text: https://doi.org/10.1038/srep29454]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Imagawa, E., Higashimoto, K., Sakai, Y., Numakura, C., Okamoto, N., Matsunaga, S., Ryo, A., Sato, Y., Sanefuji, M., Ihara, K., Takada, Y., Nishimura, G., Saitsu, H., Mizuguchi, T., Miyatake, S., Nakashima, M., Miyake, N., Soejima, H., Matsumoto, N.
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<strong>Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome.</strong>
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Hum. Mutat. 38: 637-648, 2017.
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[PubMed: 28229514]
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[Full Text: https://doi.org/10.1002/humu.23200]
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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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Margueron, R., Justin, N., Ohno, K., Sharpe, M. L., Son, J., Drury, W. J., III, Voigt, P., Martin, S. R., Taylor, W. R., De Marco, V., Pirrotta, V., Reinberg, D., Gamblin, S. J.
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<strong>Role of the polycomb protein EED in the propagation of repressive histone marks.</strong>
|
|
Nature 461: 762-767, 2009.
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[PubMed: 19767730]
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[Full Text: https://doi.org/10.1038/nature08398]
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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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Peytavi, R., Hong, S. S., Gay, B., d'Angeac, A. D., Selig, L., Benichou, S., Benarous, R., Boulanger, P.
|
|
<strong>HEED, the product of the human homolog of the murine eed gene, binds to the matrix protein of HIV-1.</strong>
|
|
J. Biol. Chem. 274: 1635-1645, 1999.
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[PubMed: 9880543]
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[Full Text: https://doi.org/10.1074/jbc.274.3.1635]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Plath, K., Fang, J., Mlynarczyk-Evans, S. K., Cao, R., Worringer, K. A., Wang, H., de la Cruz, C. C., Otte, A. P., Panning, B., Zhang, Y.
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<strong>Role of histone H3 lysine 27 methylation in X inactivation.</strong>
|
|
Science 300: 131-135, 2003.
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|
[PubMed: 12649488]
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|
[Full Text: https://doi.org/10.1126/science.1084274]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Rietzler, M., Bittner, M., Kolanus, W., Schuster, A., Holzmann, B.
|
|
<strong>The human WD repeat protein WAIT-1 specifically interacts with the cytoplasmic tails of beta-7-integrins.</strong>
|
|
J. Biol. Chem. 273: 27459-27466, 1998.
|
|
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|
|
[PubMed: 9765275]
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|
|
[Full Text: https://doi.org/10.1074/jbc.273.42.27459]
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</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Schumacher, A., Lichtarge, O., Schwartz, S., Magnuson, T.
|
|
<strong>The murine Polycomb-group gene eed and its human orthologue: functional implications of evolutionary conservation.</strong>
|
|
Genomics 54: 79-88, 1998.
|
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|
[PubMed: 9806832]
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|
[Full Text: https://doi.org/10.1006/geno.1998.5509]
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</p>
|
|
</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Sewalt, R. G. A. B., van der Vlag, J., Gunster, M. J., Hamer, K. M., den Blaauwen, J. L., Satijn, D. P. E., Hendrix, T., van Driel, R., Otte, A. P.
|
|
<strong>Characterization of interactions between the mammalian Polycomb-group proteins Enx1/EZH2 and EED suggests the existence of different mammalian Polycomb-group protein complexes.</strong>
|
|
Molec. Cell. Biol. 18: 3586-3595, 1998.
|
|
|
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|
[PubMed: 9584199]
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|
|
[Full Text: https://doi.org/10.1128/MCB.18.6.3586]
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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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Ueda, T., Nakata, Y., Nagamachi, A., Yamasaki, N., Kanai, A., Sera, Y., Sasaki, M., Matsui, H., Honda, Z., Oda, H., Wolff, L., Inaba, T., Honda, H.
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<strong>Propagation of trimethylated H3K27 regulated by polycomb protein EED is required for embryogenesis, hematopoietic maintenance, and tumor suppression.</strong>
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Proc. Nat. Acad. Sci. 113: 10370-10375, 2016.
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[PubMed: 27578866]
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[Full Text: https://doi.org/10.1073/pnas.1600070113]
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Wang, J., Mager, J., Chen, Y., Schneider, E., Cross, J. C., Nagy, A., Magnuson, T.
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<strong>Imprinted X inactivation maintained by a mouse Polycomb group gene.</strong>
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Nature Genet. 28: 371-375, 2001.
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[PubMed: 11479595]
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[Full Text: https://doi.org/10.1038/ng574]
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Ethylin Wang Jabs : 5/13/1999
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