3214 lines
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Entry
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- *607001 - EUCHROMATIC HISTONE METHYLTRANSFERASE 1; EHMT1
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*607001</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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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/607001">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000181090;t=ENST00000460843" 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=79813" 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=607001" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000181090;t=ENST00000460843" 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_001145527,NM_001354259,NM_001354263,NM_001354611,NM_001354612,NM_024757,XM_005266110,XM_011519021,XM_011519022,XM_011519023,XM_011519029,XM_011519030,XM_011519031,XM_017015134,XM_017015138,XM_024447677,XM_024447678,XM_047423872,XM_047423873,XM_047423874,XM_047423875,XM_047423876,XM_047423877,XM_047423878,XM_047423879,XM_047423880,XM_047423881,XM_047423882,XM_047423883,XM_047423884,XM_047423885,XM_047423886,XM_047423887,XM_047423888,XM_047423889,XM_047423890" 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_024757" 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=607001" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=07383&isoform_id=07383_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/EHMT1" 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/10434623,14211561,19584519,20372683,20522002,21757438,28704074,33317792,38014011,118600077,119608815,119608816,119608817,119608818,119608819,224465233,224465235,325511404,530426803,767958292,767958294,767958297,767958310,767958312,767958314,1034671322,1034671331,1229385637,1233054966,1233054968,1237938120,1370515101,2217379312,2217379316,2217379318,2217379320,2217379322,2217379325,2217379327,2217379329,2217379332,2217379334,2217379336,2217379338,2217379340,2217379342,2217379345,2217379347,2217379349,2217379768,2217379770,2217379778,2462626458,2462626460,2462626462,2462626464,2462626466,2462626468,2462626470,2462626472,2462626474,2462626476,2462626478,2462626480,2462626482,2462626484,2462626486,2462626488,2462626490,2462626492,2462626494,2462626496,2462626498,2462626500,2462626502,2462626504,2462626506,2462626508,2462626510,2462626512,2462626514,2462626516,2462626518,2462626520,2462626522,2462626524,2462626526,2462626528,2462626530,2462626532,2462626534,2462626536,2462626538,2462626540,2462626542,2462626544" 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/Q9H9B1" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=79813" 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=ENSG00000181090;t=ENST00000460843" 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=EHMT1" 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=EHMT1" 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+79813" 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/EHMT1" 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:79813" 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/79813" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr9&hgg_gene=ENST00000460843.6&hgg_start=137619005&hgg_end=137836127&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:24650" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:24650" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/ehmt1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=607001[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=607001[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/EHMT1/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/ENSG00000181090" 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=EHMT1" 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=EHMT1" 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=EHMT1" 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=EHMT1&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/PA134941393" 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:24650" 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/FBgn0040372.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:1924933" 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/EHMT1#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:1924933" 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/79813/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=79813" 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=WBGene00018023;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-040724-44" 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">
|
|
<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:79813" 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=EHMT1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
|
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
|
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<a id="number" class="mim-anchor"></a>
|
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>ICD10CM:</strong> Q87.86<br />
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">ICD+</a>
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</div>
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<div>
|
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<span class="h3">
|
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<span class="mim-font mim-tip-hint" title="Gene description">
|
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<span class="text-danger"><strong>*</strong></span>
|
|
607001
|
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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>
|
|
<h3>
|
|
<span class="mim-font">
|
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|
EUCHROMATIC HISTONE METHYLTRANSFERASE 1; EHMT1
|
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</span>
|
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</h3>
|
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</div>
|
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<div>
|
|
<br />
|
|
</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>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
EUHMTASE1<br />
|
|
G9A-LIKE PROTEIN; GLP
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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</div>
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<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=EHMT1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">EHMT1</a></em></strong>
|
|
</span>
|
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</p>
|
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</div>
|
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/9/704?start=-3&limit=10&highlight=704">9q34.3</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr9:137619005-137836127&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">9:137,619,005-137,836,127</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
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|
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<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
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|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/9/704?start=-3&limit=10&highlight=704">
|
|
9q34.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Kleefstra syndrome 1
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/610253"> 610253 </a>
|
|
|
|
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<p>G9A (EHMT2; <a href="/entry/604599">604599</a>) and GLP (EHMT1) form a protein complex that is a key histone H3 (see <a href="/entry/602810">602810</a>) lys9 (H3K9) methyltransferase (<a href="#10" class="mim-tip-reference" title="Ueda, J., Tachibana, M., Ikura, T., Shinkai, Y. <strong>Zinc finger protein Wiz links G9a/GLP histone methyltransferase to the co-repressor molecule CtBP.</strong> J. Biol. Chem. 281: 20120-20128, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16702210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16702210</a>] [<a href="https://doi.org/10.1074/jbc.M603087200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16702210">Ueda et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16702210" 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="#6" class="mim-tip-reference" title="Ogawa, H., Ishiguro, K., Gaubatz, S., Livingston, D. M., Nakatani, Y. <strong>A complex with chromatin modifiers that occupies E2F- and Myc-responsive genes in G0 cells.</strong> Science 296: 1132-1136, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12004135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12004135</a>] [<a href="https://doi.org/10.1126/science.1069861" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12004135">Ogawa et al. (2002)</a> identified the components of the E2F6 (<a href="/entry/602944">602944</a>) complex, which represses transcription. Although histone acetylase and deacetylase activities were not detected in the E2F6 complex, methyltransferase activity was. <a href="#6" class="mim-tip-reference" title="Ogawa, H., Ishiguro, K., Gaubatz, S., Livingston, D. M., Nakatani, Y. <strong>A complex with chromatin modifiers that occupies E2F- and Myc-responsive genes in G0 cells.</strong> Science 296: 1132-1136, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12004135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12004135</a>] [<a href="https://doi.org/10.1126/science.1069861" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12004135">Ogawa et al. (2002)</a> identified euchromatic histone methyltransferase-1 as a component of the E2F6 complex. The 1,267-amino acid EU-HMTase-1 protein contains ankyrin repeats and a SET domain. EU-HMTase-1 shares 63% sequence similarity with NG36/G9A. EU-HMTase-1 exhibited histone methyltransferase activity with a specificity for histone H3 in core histones, whereas it hardly methylated nucleosomes, suggesting that other subunits in the E2F6 complex are required for modification of nucleosomal substrates. <a href="#6" class="mim-tip-reference" title="Ogawa, H., Ishiguro, K., Gaubatz, S., Livingston, D. M., Nakatani, Y. <strong>A complex with chromatin modifiers that occupies E2F- and Myc-responsive genes in G0 cells.</strong> Science 296: 1132-1136, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12004135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12004135</a>] [<a href="https://doi.org/10.1126/science.1069861" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12004135">Ogawa et al. (2002)</a> demonstrated that lysine-9 of histone H3 is the target of euchromatic histone methyltransferase-1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12004135" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="Kleefstra, T., Brunner, H. G., Amiel, J., Oudakker, A. R., Nillesen, W. M., Magee, A., Genevieve, D., Cormier-Daire, V., van Esch, H., Fryns, J.-P., Hamel, B. C. J., Sistermans, E. A., de Vries, B. B. A., van Bokhoven, H. <strong>Loss-of-function mutations in Euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.</strong> Am. J. Hum. Genet. 79: 370-377, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16826528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16826528</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16826528[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/505693" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16826528">Kleefstra et al. (2006)</a> stated that the EHMT1 gene contains 28 exons. The initiation ATG occurs in exon 2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16826528" 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="#9" class="mim-tip-reference" title="Stumpf, A. M. <strong>Personal Communication.</strong> Baltimore, Md. 09/22/2020."None>Stumpf (2020)</a> mapped the EHMT1 gene to chromosome 9q34.3 based on an alignment of the EHMT1 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=BC047504" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">BC047504</a>) with the genomic sequence (GRCh38).</p>
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<p>Using mass spectrometry, <a href="#10" class="mim-tip-reference" title="Ueda, J., Tachibana, M., Ikura, T., Shinkai, Y. <strong>Zinc finger protein Wiz links G9a/GLP histone methyltransferase to the co-repressor molecule CtBP.</strong> J. Biol. Chem. 281: 20120-20128, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16702210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16702210</a>] [<a href="https://doi.org/10.1074/jbc.M603087200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16702210">Ueda et al. (2006)</a> identified Wiz (<a href="/entry/619715">619715</a>) as a component of the G9a/Glp complex in mouse embryonic stem cells (ESCs). Wiz interacted with both G9a and Glp in the complex. The interactions were mediated by the SET domains of G9a and Glp and by zinc finger motif-6 of Wiz. Knockout analysis revealed that binding of Wiz to both G9a and Glp was more stable in the G9a/Glp heteromeric complex and that Wiz, in turn, contributed to the stability of G9a in the complex. The authors also identified 2 PxDLS-like putative CTBP (see <a href="/entry/602618">602618</a>)-binding motifs in Wiz, which connected the G9a/Glp heteromeric complex with CTBP corepressors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16702210" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Ohno, H., Shinoda, K., Ohyama, K., Sharp, L. Z., Kajimura, S. <strong>EHMT1 controls brown adipose cell fate and thermogenesis through the PRDM16 complex.</strong> Nature 504: 163-167, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24196706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24196706</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24196706[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/nature12652" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24196706">Ohno et al. (2013)</a> demonstrated that EHMT1 is an essential brown adipose tissue (BAT)-enriched lysine methyltransferase in the PRDM16 (<a href="/entry/605557">605557</a>) transcriptional complex and controls brown adipose cell fate. Loss of EHMT1 in brown adipocytes causes a severe loss of brown fat characteristics and induces muscle differentiation in vivo through demethylation of histone 3 lysine 9 (H3K9me2 and 3) of the muscle-selective gene promoters. Conversely, EHMT1 expression positively regulates the BAT-selective thermogenic program by stabilizing the PRDM16 protein. Notably, adipose-specific deletion of EHMT1 leads to a marked reduction of BAT-mediated adaptive thermogenesis, obesity, and systemic insulin resistance. <a href="#7" class="mim-tip-reference" title="Ohno, H., Shinoda, K., Ohyama, K., Sharp, L. Z., Kajimura, S. <strong>EHMT1 controls brown adipose cell fate and thermogenesis through the PRDM16 complex.</strong> Nature 504: 163-167, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24196706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24196706</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24196706[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/nature12652" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24196706">Ohno et al. (2013)</a> concluded that EHMT1 is an essential enzymatic switch that controls brown adipose cell fate and energy homeostasis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24196706" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using mouse ESCs, <a href="#5" class="mim-tip-reference" title="Maier, V. K., Feeney, C. M., Taylor, J. E., Creech, A. L., Qiao, J. W., Szanto, A., Das, P. P., Chevrier, N., Cifuentes-Rojas, C., Orkin, S. H., Carr, S. A., Jaffe, J. D., Mertins, P., Lee, J. T. <strong>Functional proteomic analysis of repressive histone methyltransferase complexes reveals ZNF518B as a G9A regulator.</strong> Molec. Cell. Proteomics 14: 1435-1446, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25680957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25680957</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25680957[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/10.1074/mcp.M114.044586" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25680957">Maier et al. (2015)</a> confirmed interaction between 2 major repressive histone methyltransferase complexes, PRC2 (see EZH1, <a href="/entry/601674">601674</a>) and G9a-Glp. Moreover, the complexes shared several interaction partners, including Znf518a (<a href="/entry/617733">617733</a>) and Znf518b (<a href="/entry/617734">617734</a>). In vitro, Znf518b interacted directly with G9a and with the 2 alternative PRC2 methyltransferase subunits, Ezh1 and Ezh2 (<a href="/entry/601573">601573</a>). Knockdown of Znf518b in mouse ESCs reduced global H3K9 dimethylation. <a href="#5" class="mim-tip-reference" title="Maier, V. K., Feeney, C. M., Taylor, J. E., Creech, A. L., Qiao, J. W., Szanto, A., Das, P. P., Chevrier, N., Cifuentes-Rojas, C., Orkin, S. H., Carr, S. A., Jaffe, J. D., Mertins, P., Lee, J. T. <strong>Functional proteomic analysis of repressive histone methyltransferase complexes reveals ZNF518B as a G9A regulator.</strong> Molec. Cell. Proteomics 14: 1435-1446, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25680957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25680957</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25680957[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/10.1074/mcp.M114.044586" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25680957">Maier et al. (2015)</a> concluded that ZNF518B may mediate association between PRC2 and G9A-GLP and regulate G9A-GLP activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25680957" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using mass spectrometry, <a href="#1" class="mim-tip-reference" title="Bian, C., Chen, Q., Yu, X. <strong>The zinc finger proteins ZNF644 and WIZ regulate the G9a/GLP complex for gene repression.</strong> eLife 4: e05606, 2015. Note: Erratum: eLife 4: e08168, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25789554/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25789554</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25789554[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/10.7554/eLife.05606" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25789554">Bian et al. (2015)</a> identified ZNF644 (<a href="/entry/614159">614159</a>) and WIZ as subunits of the G9A/GLP complex in 293T cells. The N terminus of ZNF644 and the C terminus of WIZ interacted with the complex through the transcription activation domains of G9A and GLP, respectively. ZNF644 and WIZ bound to chromatin and facilitated localization of the G9A/GLP complex to chromatin. Chromatin immunoprecipitation-sequencing analysis showed that WIZ and ZNF644 associated with G9A at the promoter regions of specific loci and targeted G9A and GLP to genomic loci for transcriptional repression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25789554" 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="Yuan, J., Chang, S.-Y., Yin, S.-G., Liu, Z.-Y., Cheng, X., Liu, X.-J., Jiang, Q., Gao, G., Lin, D.-Y., Kang, X.-L., Ye, S.-W., Chen, Z., Yin, J.-A., Hao, P., Jiang, L., Cai, S.-Q. <strong>Two conserved epigenetic regulators prevent healthy ageing.</strong> Nature 579: 118-122, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32103178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32103178</a>] [<a href="https://doi.org/10.1038/s41586-020-2037-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32103178">Yuan et al. (2020)</a> reported a conserved epigenetic mechanism underlying healthy aging. Through genomewide RNA interference-based screening of genes that regulate behavioral deterioration in aging C. elegans, they identified 59 genes as potential modulators of the rate of age-related behavioral deterioration. Among these modulators, they found that a neuronal epigenetic reader, BAZ-2, and a neuronal histone 3 lysine-9 (H3K9) methyltransferase, SET6, accelerated behavioral deterioration in C. elegans by reducing mitochondrial function, repressing the expression of nuclear-encoded mitochondrial proteins. This mechanism was conserved in cultured mouse neurons and human cells. Examination of human databases showed that expression of the human orthologs of these C. elegans regulators, BAZ2B (<a href="/entry/605683">605683</a>) and EHMT1, in the frontal cortex increases with age and correlates positively with the progression of Alzheimer disease (<a href="/entry/104300">104300</a>). Furthermore, ablation of Baz2b, the mouse ortholog of BAZ2, attenuated age-dependent body weight gain and prevented cognitive decline in aging mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32103178" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The chromosome 9q subtelomeric deletion syndrome, or Kleefstra syndrome-1 (KLEFS1; <a href="/entry/610253">610253</a>), is a mental retardation syndrome that was thought to be caused by small interstitial deletions in the 9q subtelomeric region. <a href="#3" class="mim-tip-reference" title="Kleefstra, T., Smidt, M., Banning, M. J. G., Oudakker, A. R., Van Esch, H., de Brouwer, A. P., Nillesen, W., Sistermans, E. A., Hamel, B. C., de Bruijn, D., Fryns, J.-P., Yntema, H. G., Brunner, H. G., de Vries, B. B. A., van Bokhoven, H. <strong>Disruption of the gene euchromatin histone methyl transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.</strong> J. Med. Genet. 42: 299-306, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15805155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15805155</a>] [<a href="https://doi.org/10.1136/jmg.2004.028464" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15805155">Kleefstra et al. (2005)</a> characterized the breakpoints in a female with a balanced translocation t(X;9)(p11.23;q34.3) and found that the chromosome breakpoint disrupted the EHMT1 gene in intron 9. The patient presented typical features of 9q subtelomeric deletion syndrome, which suggested that the core phenotype of this entity is due to haploinsufficiency of EHMT1. <a href="#2" class="mim-tip-reference" title="Kleefstra, T., Brunner, H. G., Amiel, J., Oudakker, A. R., Nillesen, W. M., Magee, A., Genevieve, D., Cormier-Daire, V., van Esch, H., Fryns, J.-P., Hamel, B. C. J., Sistermans, E. A., de Vries, B. B. A., van Bokhoven, H. <strong>Loss-of-function mutations in Euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.</strong> Am. J. Hum. Genet. 79: 370-377, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16826528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16826528</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16826528[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/505693" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16826528">Kleefstra et al. (2006)</a> performed a comprehensive mutation analysis of the EHMT1 gene in 23 patients with clinical presentations consistent with 9q subtelomeric deletion syndrome. Three patients had microdeletions that comprised the EHMT1 gene; 1 interstitial deletion reduced the critical region for this syndrome. Two patients had de novo mutations, a nonsense mutation and a frameshift mutation, in the EHMT1 gene (<a href="#0001">607001.0001</a>-<a href="#0002">607001.0002</a>). These results appeared to establish that haploinsufficiency of EHMT1 is causative for the 9q subtelomeric deletion syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16826528+15805155" 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 6 of 24 patients with a clinical phenotype consistent with 9q deletion syndrome who had normal chromosome studies, <a href="#4" class="mim-tip-reference" title="Kleefstra, T., van Zelst-Stams, W. A., Nillesen, W. M., Cormier-Daire, V., Houge, G., Foulds, N., van Dooren, M., Willemsen, M. H., Pfundt, R., Turner, A., Wilson, M., McGaughran, J., and 16 others. <strong>Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.</strong> J. Med. Genet. 46: 598-606, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19264732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19264732</a>] [<a href="https://doi.org/10.1136/jmg.2008.062950" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19264732">Kleefstra et al. (2009)</a> identified 6 different intragenic mutations in the EHMT1 gene (see, e.g., C1042Y, <a href="#0003">607001.0003</a> and R260X, <a href="#0004">607001.0004</a>). There were 2 nonsense mutations, a deletion, 2 splice site mutations, and 1 missense mutation at a highly conserved residue. A comparison of the phenotype between these 6 patients and 16 additional patients with larger deletions of 9q showed no genotype/phenotype correlations. <a href="#4" class="mim-tip-reference" title="Kleefstra, T., van Zelst-Stams, W. A., Nillesen, W. M., Cormier-Daire, V., Houge, G., Foulds, N., van Dooren, M., Willemsen, M. H., Pfundt, R., Turner, A., Wilson, M., McGaughran, J., and 16 others. <strong>Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.</strong> J. Med. Genet. 46: 598-606, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19264732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19264732</a>] [<a href="https://doi.org/10.1136/jmg.2008.062950" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19264732">Kleefstra et al. (2009)</a> concluded that haploinsufficiency for EHMT1 is the basis for the phenotypic features in this disorder. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19264732" 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="Schaefer, A., Sampath, S. C., Intrator, A., Min, A., Gertler, T. S., Surmeier, D. J., Tarakhovsky, A., Greengard, P. <strong>Control of cognition and adaptive behavior by the GLP/G9a epigenetic suppressor complex.</strong> Neuron 64: 678-691, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20005824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20005824</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20005824[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.neuron.2009.11.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20005824">Schaefer et al. (2009)</a> found that conditional ablation of Ehmt2 (<a href="/entry/604599">604599</a>) or Ehmt1 in postnatal mouse forebrain neurons caused a reduction in euchromatic H3K9 methylation in the forebrain and upregulation/derepression of neuronal and nonneuronal genes (e.g., AFP; <a href="/entry/104150">104150</a>), including those involved in developmental stage-dependent gene expression (e.g., Dach2; <a href="/entry/300608">300608</a>). These changes were not associated with alterations in neuronal architecture or electrophysiologic features. Mice with postnatal knockout of Ehmt1 or Ehmt2 in the forebrain showed decreased exploratory behavior in a novel environment and had a decrease in the preference for sucrose solution compared to wildtype mice, the latter of which may indicate an underlying dysfunction in motivation/reward. Both Ehmt2-null and Ehmt1-null mice became obese. Ehmt1-null mice also showed defects in contextual and cued fear conditioning, indicating a problem with learning and memory. Mice lacking Ehmt2 specifically in Drd1 (<a href="/entry/126449">126449</a>)- or Drd2 (<a href="/entry/126450">126450</a>)-expressing neurons in the striatum showed altered locomotor and behavioral responses to Drd-specific receptor agonist or antagonists, reflecting reductions of cell type-specific activity. The changes in these mice resembled the features of the human chromosome 9q34.3 deletion syndrome. <a href="#8" class="mim-tip-reference" title="Schaefer, A., Sampath, S. C., Intrator, A., Min, A., Gertler, T. S., Surmeier, D. J., Tarakhovsky, A., Greengard, P. <strong>Control of cognition and adaptive behavior by the GLP/G9a epigenetic suppressor complex.</strong> Neuron 64: 678-691, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20005824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20005824</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20005824[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.neuron.2009.11.019" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20005824">Schaefer et al. (2009)</a> concluded that Ehmt1 and Ehmt2 are key regulators of cognition and adaptive behavior in adult mice through regulation of transcriptional homeostasis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20005824" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient (P4) with clinical features of the 9q subtelomeric deletion syndrome (KLEFS1; <a href="/entry/610253">610253</a>), <a href="#2" class="mim-tip-reference" title="Kleefstra, T., Brunner, H. G., Amiel, J., Oudakker, A. R., Nillesen, W. M., Magee, A., Genevieve, D., Cormier-Daire, V., van Esch, H., Fryns, J.-P., Hamel, B. C. J., Sistermans, E. A., de Vries, B. B. A., van Bokhoven, H. <strong>Loss-of-function mutations in Euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.</strong> Am. J. Hum. Genet. 79: 370-377, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16826528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16826528</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16826528[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/505693" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16826528">Kleefstra et al. (2006)</a> identified a heterozygous 3409C-T transition (c.3409C-T, NM_024757) in exon 24 of the EHMT1 gene that caused an arg1137-to-stop substitution (R1137X). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16826528" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003790" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003790" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003790</a>
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<p>In a patient (P5) with clinical features of the 9q subtelomeric deletion syndrome (KLEFS1; <a href="/entry/610253">610253</a>), <a href="#2" class="mim-tip-reference" title="Kleefstra, T., Brunner, H. G., Amiel, J., Oudakker, A. R., Nillesen, W. M., Magee, A., Genevieve, D., Cormier-Daire, V., van Esch, H., Fryns, J.-P., Hamel, B. C. J., Sistermans, E. A., de Vries, B. B. A., van Bokhoven, H. <strong>Loss-of-function mutations in Euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.</strong> Am. J. Hum. Genet. 79: 370-377, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16826528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16826528</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16826528[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/505693" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16826528">Kleefstra et al. (2006)</a> identified a heterozygous 13-bp deletion in exon 8 of the EHMT1 gene (c.1320_1332del13, NM_024757). The deletion resulted in a frameshift (P442fs) and a premature stop that predicted a mutant protein of 526 amino acids. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16826528" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0003 KLEEFSTRA SYNDROME 1</strong>
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EHMT1, CYS1042TYR
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs137852726 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852726;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=rs137852726" 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=rs137852726" 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=RCV000003791" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003791" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003791</a>
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<p>In a 20-year-old woman (patient 20) with a phenotype consistent with chromosome 9q subtelomeric deletion syndrome (KLEFS1; <a href="/entry/610253">610253</a>), <a href="#4" class="mim-tip-reference" title="Kleefstra, T., van Zelst-Stams, W. A., Nillesen, W. M., Cormier-Daire, V., Houge, G., Foulds, N., van Dooren, M., Willemsen, M. H., Pfundt, R., Turner, A., Wilson, M., McGaughran, J., and 16 others. <strong>Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.</strong> J. Med. Genet. 46: 598-606, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19264732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19264732</a>] [<a href="https://doi.org/10.1136/jmg.2008.062950" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19264732">Kleefstra et al. (2009)</a> identified a de novo heterozygous c.3125G-A transition (c.3125G-A, NM_024757.3) in the EHMT1 gene, resulting in a cys1042-to-tyr (C1042Y) substitution in a highly conserved residue in the pre-SET domain of the protein. Protein modeling predicted that the substitution would abolish a strong cysteine-zinc interaction and interfere with the local conformation of the pre-SET domain. The phenotype was fully compatible with the deletion syndrome, and included severe psychomotor retardation, hypotonia, and characteristic facial features of midface hypoplasia, synophrys, and eversion of the lower lip. She also had pulmonary stenosis. <a href="#4" class="mim-tip-reference" title="Kleefstra, T., van Zelst-Stams, W. A., Nillesen, W. M., Cormier-Daire, V., Houge, G., Foulds, N., van Dooren, M., Willemsen, M. H., Pfundt, R., Turner, A., Wilson, M., McGaughran, J., and 16 others. <strong>Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.</strong> J. Med. Genet. 46: 598-606, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19264732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19264732</a>] [<a href="https://doi.org/10.1136/jmg.2008.062950" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19264732">Kleefstra et al. (2009)</a> postulated loss of protein function and haploinsufficiency rather than a dominant-negative effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19264732" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>.0004 KLEEFSTRA SYNDROME 1</strong>
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EHMT1, ARG260TER
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs137852714 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852714;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs137852714?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852714" 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=rs137852714" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<span class="mim-text-font">
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000003792" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000003792" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000003792</a>
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<p>In a 19-year-old man (patient 19) with a phenotype consistent with chromosome 9q subtelomeric deletion syndrome (KLEFS1; <a href="/entry/610253">610253</a>), <a href="#4" class="mim-tip-reference" title="Kleefstra, T., van Zelst-Stams, W. A., Nillesen, W. M., Cormier-Daire, V., Houge, G., Foulds, N., van Dooren, M., Willemsen, M. H., Pfundt, R., Turner, A., Wilson, M., McGaughran, J., and 16 others. <strong>Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.</strong> J. Med. Genet. 46: 598-606, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19264732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19264732</a>] [<a href="https://doi.org/10.1136/jmg.2008.062950" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19264732">Kleefstra et al. (2009)</a> identified a de novo heterozygous c.778C-T transition (c.778C-T, NM_024757.3) in the EHMT1 gene, resulting in an arg260-to-ter (R260X) substitution, predicted to result in nonsense-mediated mRNA decay. The man had mental retardation, seizures, and characteristic facial abnormalities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19264732" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="Bian2015" class="mim-anchor"></a>
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Bian, C., Chen, Q., Yu, X.
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<strong>The zinc finger proteins ZNF644 and WIZ regulate the G9a/GLP complex for gene repression.</strong>
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eLife 4: e05606, 2015. Note: Erratum: eLife 4: e08168, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25789554/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25789554</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25789554[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=25789554" 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/10.7554/eLife.05606" target="_blank">Full Text</a>]
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Kleefstra, T., Brunner, H. G., Amiel, J., Oudakker, A. R., Nillesen, W. M., Magee, A., Genevieve, D., Cormier-Daire, V., van Esch, H., Fryns, J.-P., Hamel, B. C. J., Sistermans, E. A., de Vries, B. B. A., van Bokhoven, H.
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<strong>Loss-of-function mutations in Euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.</strong>
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Am. J. Hum. Genet. 79: 370-377, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16826528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16826528</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16826528[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=16826528" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/505693" target="_blank">Full Text</a>]
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Kleefstra, T., Smidt, M., Banning, M. J. G., Oudakker, A. R., Van Esch, H., de Brouwer, A. P., Nillesen, W., Sistermans, E. A., Hamel, B. C., de Bruijn, D., Fryns, J.-P., Yntema, H. G., Brunner, H. G., de Vries, B. B. A., van Bokhoven, H.
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<strong>Disruption of the gene euchromatin histone methyl transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.</strong>
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J. Med. Genet. 42: 299-306, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15805155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15805155</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15805155" 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/10.1136/jmg.2004.028464" target="_blank">Full Text</a>]
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Kleefstra, T., van Zelst-Stams, W. A., Nillesen, W. M., Cormier-Daire, V., Houge, G., Foulds, N., van Dooren, M., Willemsen, M. H., Pfundt, R., Turner, A., Wilson, M., McGaughran, J., and 16 others.
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<strong>Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.</strong>
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J. Med. Genet. 46: 598-606, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19264732/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19264732</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19264732" 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/10.1136/jmg.2008.062950" target="_blank">Full Text</a>]
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Maier, V. K., Feeney, C. M., Taylor, J. E., Creech, A. L., Qiao, J. W., Szanto, A., Das, P. P., Chevrier, N., Cifuentes-Rojas, C., Orkin, S. H., Carr, S. A., Jaffe, J. D., Mertins, P., Lee, J. T.
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<strong>Functional proteomic analysis of repressive histone methyltransferase complexes reveals ZNF518B as a G9A regulator.</strong>
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Molec. Cell. Proteomics 14: 1435-1446, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25680957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25680957</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25680957[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=25680957" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/mcp.M114.044586" target="_blank">Full Text</a>]
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<a id="Ogawa2002" class="mim-anchor"></a>
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Ogawa, H., Ishiguro, K., Gaubatz, S., Livingston, D. M., Nakatani, Y.
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<strong>A complex with chromatin modifiers that occupies E2F- and Myc-responsive genes in G0 cells.</strong>
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Science 296: 1132-1136, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12004135/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12004135</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12004135" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.1069861" target="_blank">Full Text</a>]
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<a id="Ohno2013" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ohno, H., Shinoda, K., Ohyama, K., Sharp, L. Z., Kajimura, S.
|
|
<strong>EHMT1 controls brown adipose cell fate and thermogenesis through the PRDM16 complex.</strong>
|
|
Nature 504: 163-167, 2013.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24196706/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24196706</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24196706[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=24196706" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1038/nature12652" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
|
|
<a id="8" class="mim-anchor"></a>
|
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<a id="Schaefer2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schaefer, A., Sampath, S. C., Intrator, A., Min, A., Gertler, T. S., Surmeier, D. J., Tarakhovsky, A., Greengard, P.
|
|
<strong>Control of cognition and adaptive behavior by the GLP/G9a epigenetic suppressor complex.</strong>
|
|
Neuron 64: 678-691, 2009.
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|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20005824/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20005824</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20005824[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=20005824" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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[<a href="https://doi.org/10.1016/j.neuron.2009.11.019" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="9" class="mim-anchor"></a>
|
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<a id="Stumpf2020" class="mim-anchor"></a>
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<div class="">
|
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<p class="mim-text-font">
|
|
Stumpf, A. M.
|
|
<strong>Personal Communication.</strong>
|
|
Baltimore, Md. 09/22/2020.
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
|
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<a id="Ueda2006" class="mim-anchor"></a>
|
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<div class="">
|
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<p class="mim-text-font">
|
|
Ueda, J., Tachibana, M., Ikura, T., Shinkai, Y.
|
|
<strong>Zinc finger protein Wiz links G9a/GLP histone methyltransferase to the co-repressor molecule CtBP.</strong>
|
|
J. Biol. Chem. 281: 20120-20128, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16702210/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16702210</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16702210" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1074/jbc.M603087200" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="11" class="mim-anchor"></a>
|
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<a id="Yuan2020" class="mim-anchor"></a>
|
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<div class="">
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<p class="mim-text-font">
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Yuan, J., Chang, S.-Y., Yin, S.-G., Liu, Z.-Y., Cheng, X., Liu, X.-J., Jiang, Q., Gao, G., Lin, D.-Y., Kang, X.-L., Ye, S.-W., Chen, Z., Yin, J.-A., Hao, P., Jiang, L., Cai, S.-Q.
|
|
<strong>Two conserved epigenetic regulators prevent healthy ageing.</strong>
|
|
Nature 579: 118-122, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32103178/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32103178</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32103178" 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/s41586-020-2037-y" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Bao Lige - updated : 01/20/2022
|
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</span>
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</div>
|
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</div>
|
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<div class="row collapse" id="mimCollapseContributors">
|
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
Ada Hamosh - updated : 09/22/2020<br>Anne M. Stumpf - updated : 09/22/2020<br>Patricia A. Hartz - updated : 10/18/2017<br>Ada Hamosh - updated : 02/05/2014<br>Cassandra L. Kniffin - updated : 9/26/2013<br>Cassandra L. Kniffin - updated : 12/29/2009<br>Victor A. McKusick - updated : 7/7/2006
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
|
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh : 5/30/2002
|
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
|
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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</span>
|
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</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
carol : 10/02/2024
|
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</span>
|
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseEditHistory">
|
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
|
carol : 01/21/2023<br>mgross : 01/20/2022<br>alopez : 09/22/2020<br>alopez : 09/22/2020<br>alopez : 09/22/2020<br>carol : 11/14/2017<br>ckniffin : 11/10/2017<br>mgross : 10/18/2017<br>alopez : 02/05/2014<br>carol : 10/11/2013<br>tpirozzi : 10/11/2013<br>ckniffin : 9/26/2013<br>carol : 1/8/2010<br>ckniffin : 12/29/2009<br>terry : 8/24/2006<br>carol : 7/22/2006<br>alopez : 7/13/2006<br>terry : 7/7/2006<br>joanna : 6/30/2006<br>alopez : 5/30/2002
|
|
</span>
|
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
<strong>*</strong> 607001
|
|
</span>
|
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</h3>
|
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</div>
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<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
EUCHROMATIC HISTONE METHYLTRANSFERASE 1; EHMT1
|
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|
|
</span>
|
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</h3>
|
|
</div>
|
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<div>
|
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<br />
|
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</div>
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<div>
|
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<div >
|
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<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
EUHMTASE1<br />
|
|
G9A-LIKE PROTEIN; GLP
|
|
</span>
|
|
</h4>
|
|
</div>
|
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: EHMT1</em></strong>
|
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</span>
|
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</p>
|
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</div>
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<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
<strong>ICD10CM:</strong> Q87.86;
|
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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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<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: 9q34.3
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 9:137,619,005-137,836,127 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
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<div>
|
|
<br />
|
|
</div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
9q34.3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
<td>
|
|
<span class="mim-font">
|
|
Kleefstra syndrome 1
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
610253
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
|
|
|
|
</tr>
|
|
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
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|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>G9A (EHMT2; 604599) and GLP (EHMT1) form a protein complex that is a key histone H3 (see 602810) lys9 (H3K9) methyltransferase (Ueda et al., 2006). </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Ogawa et al. (2002) identified the components of the E2F6 (602944) complex, which represses transcription. Although histone acetylase and deacetylase activities were not detected in the E2F6 complex, methyltransferase activity was. Ogawa et al. (2002) identified euchromatic histone methyltransferase-1 as a component of the E2F6 complex. The 1,267-amino acid EU-HMTase-1 protein contains ankyrin repeats and a SET domain. EU-HMTase-1 shares 63% sequence similarity with NG36/G9A. EU-HMTase-1 exhibited histone methyltransferase activity with a specificity for histone H3 in core histones, whereas it hardly methylated nucleosomes, suggesting that other subunits in the E2F6 complex are required for modification of nucleosomal substrates. Ogawa et al. (2002) demonstrated that lysine-9 of histone H3 is the target of euchromatic histone methyltransferase-1. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Structure</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Kleefstra et al. (2006) stated that the EHMT1 gene contains 28 exons. The initiation ATG occurs in exon 2. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Mapping</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Stumpf (2020) mapped the EHMT1 gene to chromosome 9q34.3 based on an alignment of the EHMT1 sequence (GenBank BC047504) with the genomic sequence (GRCh38).</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Gene Function</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
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<p>Using mass spectrometry, Ueda et al. (2006) identified Wiz (619715) as a component of the G9a/Glp complex in mouse embryonic stem cells (ESCs). Wiz interacted with both G9a and Glp in the complex. The interactions were mediated by the SET domains of G9a and Glp and by zinc finger motif-6 of Wiz. Knockout analysis revealed that binding of Wiz to both G9a and Glp was more stable in the G9a/Glp heteromeric complex and that Wiz, in turn, contributed to the stability of G9a in the complex. The authors also identified 2 PxDLS-like putative CTBP (see 602618)-binding motifs in Wiz, which connected the G9a/Glp heteromeric complex with CTBP corepressors. </p><p>Ohno et al. (2013) demonstrated that EHMT1 is an essential brown adipose tissue (BAT)-enriched lysine methyltransferase in the PRDM16 (605557) transcriptional complex and controls brown adipose cell fate. Loss of EHMT1 in brown adipocytes causes a severe loss of brown fat characteristics and induces muscle differentiation in vivo through demethylation of histone 3 lysine 9 (H3K9me2 and 3) of the muscle-selective gene promoters. Conversely, EHMT1 expression positively regulates the BAT-selective thermogenic program by stabilizing the PRDM16 protein. Notably, adipose-specific deletion of EHMT1 leads to a marked reduction of BAT-mediated adaptive thermogenesis, obesity, and systemic insulin resistance. Ohno et al. (2013) concluded that EHMT1 is an essential enzymatic switch that controls brown adipose cell fate and energy homeostasis. </p><p>Using mouse ESCs, Maier et al. (2015) confirmed interaction between 2 major repressive histone methyltransferase complexes, PRC2 (see EZH1, 601674) and G9a-Glp. Moreover, the complexes shared several interaction partners, including Znf518a (617733) and Znf518b (617734). In vitro, Znf518b interacted directly with G9a and with the 2 alternative PRC2 methyltransferase subunits, Ezh1 and Ezh2 (601573). Knockdown of Znf518b in mouse ESCs reduced global H3K9 dimethylation. Maier et al. (2015) concluded that ZNF518B may mediate association between PRC2 and G9A-GLP and regulate G9A-GLP activity. </p><p>Using mass spectrometry, Bian et al. (2015) identified ZNF644 (614159) and WIZ as subunits of the G9A/GLP complex in 293T cells. The N terminus of ZNF644 and the C terminus of WIZ interacted with the complex through the transcription activation domains of G9A and GLP, respectively. ZNF644 and WIZ bound to chromatin and facilitated localization of the G9A/GLP complex to chromatin. Chromatin immunoprecipitation-sequencing analysis showed that WIZ and ZNF644 associated with G9A at the promoter regions of specific loci and targeted G9A and GLP to genomic loci for transcriptional repression. </p><p>Yuan et al. (2020) reported a conserved epigenetic mechanism underlying healthy aging. Through genomewide RNA interference-based screening of genes that regulate behavioral deterioration in aging C. elegans, they identified 59 genes as potential modulators of the rate of age-related behavioral deterioration. Among these modulators, they found that a neuronal epigenetic reader, BAZ-2, and a neuronal histone 3 lysine-9 (H3K9) methyltransferase, SET6, accelerated behavioral deterioration in C. elegans by reducing mitochondrial function, repressing the expression of nuclear-encoded mitochondrial proteins. This mechanism was conserved in cultured mouse neurons and human cells. Examination of human databases showed that expression of the human orthologs of these C. elegans regulators, BAZ2B (605683) and EHMT1, in the frontal cortex increases with age and correlates positively with the progression of Alzheimer disease (104300). Furthermore, ablation of Baz2b, the mouse ortholog of BAZ2, attenuated age-dependent body weight gain and prevented cognitive decline in aging mice. </p>
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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>The chromosome 9q subtelomeric deletion syndrome, or Kleefstra syndrome-1 (KLEFS1; 610253), is a mental retardation syndrome that was thought to be caused by small interstitial deletions in the 9q subtelomeric region. Kleefstra et al. (2005) characterized the breakpoints in a female with a balanced translocation t(X;9)(p11.23;q34.3) and found that the chromosome breakpoint disrupted the EHMT1 gene in intron 9. The patient presented typical features of 9q subtelomeric deletion syndrome, which suggested that the core phenotype of this entity is due to haploinsufficiency of EHMT1. Kleefstra et al. (2006) performed a comprehensive mutation analysis of the EHMT1 gene in 23 patients with clinical presentations consistent with 9q subtelomeric deletion syndrome. Three patients had microdeletions that comprised the EHMT1 gene; 1 interstitial deletion reduced the critical region for this syndrome. Two patients had de novo mutations, a nonsense mutation and a frameshift mutation, in the EHMT1 gene (607001.0001-607001.0002). These results appeared to establish that haploinsufficiency of EHMT1 is causative for the 9q subtelomeric deletion syndrome. </p><p>In 6 of 24 patients with a clinical phenotype consistent with 9q deletion syndrome who had normal chromosome studies, Kleefstra et al. (2009) identified 6 different intragenic mutations in the EHMT1 gene (see, e.g., C1042Y, 607001.0003 and R260X, 607001.0004). There were 2 nonsense mutations, a deletion, 2 splice site mutations, and 1 missense mutation at a highly conserved residue. A comparison of the phenotype between these 6 patients and 16 additional patients with larger deletions of 9q showed no genotype/phenotype correlations. Kleefstra et al. (2009) concluded that haploinsufficiency for EHMT1 is the basis for the phenotypic features in this disorder. </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>Animal Model</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Schaefer et al. (2009) found that conditional ablation of Ehmt2 (604599) or Ehmt1 in postnatal mouse forebrain neurons caused a reduction in euchromatic H3K9 methylation in the forebrain and upregulation/derepression of neuronal and nonneuronal genes (e.g., AFP; 104150), including those involved in developmental stage-dependent gene expression (e.g., Dach2; 300608). These changes were not associated with alterations in neuronal architecture or electrophysiologic features. Mice with postnatal knockout of Ehmt1 or Ehmt2 in the forebrain showed decreased exploratory behavior in a novel environment and had a decrease in the preference for sucrose solution compared to wildtype mice, the latter of which may indicate an underlying dysfunction in motivation/reward. Both Ehmt2-null and Ehmt1-null mice became obese. Ehmt1-null mice also showed defects in contextual and cued fear conditioning, indicating a problem with learning and memory. Mice lacking Ehmt2 specifically in Drd1 (126449)- or Drd2 (126450)-expressing neurons in the striatum showed altered locomotor and behavioral responses to Drd-specific receptor agonist or antagonists, reflecting reductions of cell type-specific activity. The changes in these mice resembled the features of the human chromosome 9q34.3 deletion syndrome. Schaefer et al. (2009) concluded that Ehmt1 and Ehmt2 are key regulators of cognition and adaptive behavior in adult mice through regulation of transcriptional homeostasis. </p>
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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 KLEEFSTRA SYNDROME 1</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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EHMT1, ARG1137TER
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<br />
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SNP: rs121918301,
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ClinVar: RCV000003789, RCV001579482
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient (P4) with clinical features of the 9q subtelomeric deletion syndrome (KLEFS1; 610253), Kleefstra et al. (2006) identified a heterozygous 3409C-T transition (c.3409C-T, NM_024757) in exon 24 of the EHMT1 gene that caused an arg1137-to-stop substitution (R1137X). </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 KLEEFSTRA SYNDROME 1</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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EHMT1, 13-BP DEL, NT1320
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<br />
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SNP: rs137852715,
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ClinVar: RCV000003790
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient (P5) with clinical features of the 9q subtelomeric deletion syndrome (KLEFS1; 610253), Kleefstra et al. (2006) identified a heterozygous 13-bp deletion in exon 8 of the EHMT1 gene (c.1320_1332del13, NM_024757). The deletion resulted in a frameshift (P442fs) and a premature stop that predicted a mutant protein of 526 amino acids. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 KLEEFSTRA SYNDROME 1</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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EHMT1, CYS1042TYR
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<br />
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SNP: rs137852726,
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ClinVar: RCV000003791
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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 20-year-old woman (patient 20) with a phenotype consistent with chromosome 9q subtelomeric deletion syndrome (KLEFS1; 610253), Kleefstra et al. (2009) identified a de novo heterozygous c.3125G-A transition (c.3125G-A, NM_024757.3) in the EHMT1 gene, resulting in a cys1042-to-tyr (C1042Y) substitution in a highly conserved residue in the pre-SET domain of the protein. Protein modeling predicted that the substitution would abolish a strong cysteine-zinc interaction and interfere with the local conformation of the pre-SET domain. The phenotype was fully compatible with the deletion syndrome, and included severe psychomotor retardation, hypotonia, and characteristic facial features of midface hypoplasia, synophrys, and eversion of the lower lip. She also had pulmonary stenosis. Kleefstra et al. (2009) postulated loss of protein function and haploinsufficiency rather than a dominant-negative effect. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 KLEEFSTRA SYNDROME 1</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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EHMT1, ARG260TER
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<br />
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SNP: rs137852714,
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gnomAD: rs137852714,
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ClinVar: RCV000003792
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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 19-year-old man (patient 19) with a phenotype consistent with chromosome 9q subtelomeric deletion syndrome (KLEFS1; 610253), Kleefstra et al. (2009) identified a de novo heterozygous c.778C-T transition (c.778C-T, NM_024757.3) in the EHMT1 gene, resulting in an arg260-to-ter (R260X) substitution, predicted to result in nonsense-mediated mRNA decay. The man had mental retardation, seizures, and characteristic facial abnormalities. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Bian, C., Chen, Q., Yu, X.
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|
<strong>The zinc finger proteins ZNF644 and WIZ regulate the G9a/GLP complex for gene repression.</strong>
|
|
eLife 4: e05606, 2015. Note: Erratum: eLife 4: e08168, 2015.
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[PubMed: 25789554]
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[Full Text: https://doi.org/10.7554/eLife.05606]
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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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Kleefstra, T., Brunner, H. G., Amiel, J., Oudakker, A. R., Nillesen, W. M., Magee, A., Genevieve, D., Cormier-Daire, V., van Esch, H., Fryns, J.-P., Hamel, B. C. J., Sistermans, E. A., de Vries, B. B. A., van Bokhoven, H.
|
|
<strong>Loss-of-function mutations in Euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.</strong>
|
|
Am. J. Hum. Genet. 79: 370-377, 2006.
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[PubMed: 16826528]
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[Full Text: https://doi.org/10.1086/505693]
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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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Kleefstra, T., Smidt, M., Banning, M. J. G., Oudakker, A. R., Van Esch, H., de Brouwer, A. P., Nillesen, W., Sistermans, E. A., Hamel, B. C., de Bruijn, D., Fryns, J.-P., Yntema, H. G., Brunner, H. G., de Vries, B. B. A., van Bokhoven, H.
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<strong>Disruption of the gene euchromatin histone methyl transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.</strong>
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J. Med. Genet. 42: 299-306, 2005.
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[PubMed: 15805155]
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[Full Text: https://doi.org/10.1136/jmg.2004.028464]
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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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Kleefstra, T., van Zelst-Stams, W. A., Nillesen, W. M., Cormier-Daire, V., Houge, G., Foulds, N., van Dooren, M., Willemsen, M. H., Pfundt, R., Turner, A., Wilson, M., McGaughran, J., and 16 others.
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|
<strong>Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype.</strong>
|
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J. Med. Genet. 46: 598-606, 2009.
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[PubMed: 19264732]
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[Full Text: https://doi.org/10.1136/jmg.2008.062950]
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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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Maier, V. K., Feeney, C. M., Taylor, J. E., Creech, A. L., Qiao, J. W., Szanto, A., Das, P. P., Chevrier, N., Cifuentes-Rojas, C., Orkin, S. H., Carr, S. A., Jaffe, J. D., Mertins, P., Lee, J. T.
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<strong>Functional proteomic analysis of repressive histone methyltransferase complexes reveals ZNF518B as a G9A regulator.</strong>
|
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Molec. Cell. Proteomics 14: 1435-1446, 2015.
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[PubMed: 25680957]
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[Full Text: https://doi.org/10.1074/mcp.M114.044586]
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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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Ogawa, H., Ishiguro, K., Gaubatz, S., Livingston, D. M., Nakatani, Y.
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<strong>A complex with chromatin modifiers that occupies E2F- and Myc-responsive genes in G0 cells.</strong>
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Science 296: 1132-1136, 2002.
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[PubMed: 12004135]
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[Full Text: https://doi.org/10.1126/science.1069861]
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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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Ohno, H., Shinoda, K., Ohyama, K., Sharp, L. Z., Kajimura, S.
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<strong>EHMT1 controls brown adipose cell fate and thermogenesis through the PRDM16 complex.</strong>
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Nature 504: 163-167, 2013.
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[PubMed: 24196706]
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[Full Text: https://doi.org/10.1038/nature12652]
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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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Schaefer, A., Sampath, S. C., Intrator, A., Min, A., Gertler, T. S., Surmeier, D. J., Tarakhovsky, A., Greengard, P.
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<strong>Control of cognition and adaptive behavior by the GLP/G9a epigenetic suppressor complex.</strong>
|
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Neuron 64: 678-691, 2009.
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[PubMed: 20005824]
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[Full Text: https://doi.org/10.1016/j.neuron.2009.11.019]
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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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Stumpf, A. M.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 09/22/2020.
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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, J., Tachibana, M., Ikura, T., Shinkai, Y.
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<strong>Zinc finger protein Wiz links G9a/GLP histone methyltransferase to the co-repressor molecule CtBP.</strong>
|
|
J. Biol. Chem. 281: 20120-20128, 2006.
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[PubMed: 16702210]
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[Full Text: https://doi.org/10.1074/jbc.M603087200]
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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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Yuan, J., Chang, S.-Y., Yin, S.-G., Liu, Z.-Y., Cheng, X., Liu, X.-J., Jiang, Q., Gao, G., Lin, D.-Y., Kang, X.-L., Ye, S.-W., Chen, Z., Yin, J.-A., Hao, P., Jiang, L., Cai, S.-Q.
|
|
<strong>Two conserved epigenetic regulators prevent healthy ageing.</strong>
|
|
Nature 579: 118-122, 2020.
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[PubMed: 32103178]
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[Full Text: https://doi.org/10.1038/s41586-020-2037-y]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Contributors:
|
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</span>
|
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Bao Lige - updated : 01/20/2022<br>Ada Hamosh - updated : 09/22/2020<br>Anne M. Stumpf - updated : 09/22/2020<br>Patricia A. Hartz - updated : 10/18/2017<br>Ada Hamosh - updated : 02/05/2014<br>Cassandra L. Kniffin - updated : 9/26/2013<br>Cassandra L. Kniffin - updated : 12/29/2009<br>Victor A. McKusick - updated : 7/7/2006
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Ada Hamosh : 5/30/2002
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carol : 10/02/2024<br>carol : 01/21/2023<br>mgross : 01/20/2022<br>alopez : 09/22/2020<br>alopez : 09/22/2020<br>alopez : 09/22/2020<br>carol : 11/14/2017<br>ckniffin : 11/10/2017<br>mgross : 10/18/2017<br>alopez : 02/05/2014<br>carol : 10/11/2013<br>tpirozzi : 10/11/2013<br>ckniffin : 9/26/2013<br>carol : 1/8/2010<br>ckniffin : 12/29/2009<br>terry : 8/24/2006<br>carol : 7/22/2006<br>alopez : 7/13/2006<br>terry : 7/7/2006<br>joanna : 6/30/2006<br>alopez : 5/30/2002
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