3384 lines
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Entry
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- *612192 - ZFP57 ZINC FINGER PROTEIN; ZFP57
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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">*612192</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/612192">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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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<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=ENSG00000204644;t=ENST00000376883" 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=346171" 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=612192" 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=ENSG00000204644;t=ENST00000376883" 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_001109809,NM_001366333" 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_001109809" 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=612192" 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=19560&isoform_id=19560_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/ZFP57" 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/7671629,150416327,187956810,219521356,239582722,1159611606,1159611610,1159611612,1159611614,1159611616,1159611618,1191447666,1483728483" 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/Q9NU63" 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=346171" 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=ENSG00000204644;t=ENST00000376883" 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=ZFP57" 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=ZFP57" 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+346171" 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/ZFP57" 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:346171" 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/346171" 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=chr6&hgg_gene=ENST00000376883.2&hgg_start=29672392&hgg_end=29681152&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://medlineplus.gov/genetics/gene/zfp57" 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=612192[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 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=612192[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000204644" 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=ZFP57" 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=ZFP57" 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=ZFP57" 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=ZFP57&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/PA134937821" 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:18791" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:99204" 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/ZFP57#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:99204" 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/346171/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=346171" 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>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=ZFP57&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 609579009<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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612192
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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ZFP57 ZINC FINGER PROTEIN; ZFP57
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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ZINC FINGER PROTEIN 57, MOUSE, HOMOLOG OF
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=ZFP57" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">ZFP57</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: <a href="/geneMap/6/226?start=-3&limit=10&highlight=226">6p22.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr6:29672392-29681152&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'})">6:29,672,392-29,681,152</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/6/226?start=-3&limit=10&highlight=226">
|
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6p22.1
|
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</a>
|
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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Diabetes mellitus, transient neonatal 1
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<a href="/entry/601410"> 601410 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/612192" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/612192" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<div>
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<p />
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="text" class="mim-anchor"></a>
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<h4>
|
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|
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
|
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</h4>
|
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
|
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<span class="mim-text-font">
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<p>KRAB zinc finger proteins, such as ZFP57, act as potent transcriptional repressors through KRAB box-mediated interaction with KAP1 (TRIM28; <a href="/entry/601742">601742</a>) corepressor complexes. ZFP57 is a maternal-zygotic effect gene that contributes to the stable maintenance of methylation imprints during development (<a href="#5" class="mim-tip-reference" title="Li, X., Ito, M., Zhou, F., Youngson, N., Zuo, X., Leder, P., Ferguson-Smith, A. C. <strong>A maternal-zygotic effect gene, Zfp57, maintains both maternal and paternal imprints.</strong> Dev. Cell 15: 547-557, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18854139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18854139</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18854139[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.devcel.2008.08.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18854139">Li et al., 2008</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18854139" 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="#7" class="mim-tip-reference" title="Okazaki, S., Tanase, S., Choudhury, B. K., Setoyama, K., Miura, R., Ogawa, M., Setoyama, C. <strong>A novel nuclear protein with zinc fingers down-regulated during early mammalian cell differentiation.</strong> J. Biol. Chem. 269: 6900-6907, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8120052/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8120052</a>]" pmid="8120052">Okazaki et al. (1994)</a> cloned cDNAs for 2 mouse Zfp57 transcripts that differed only in their 3-prime UTRs. Both transcripts encode a highly basic 421-amino acid protein containing 5 C2H2-type zinc finger motifs, followed by a putative nuclear localization signal and an acidic region at the C terminus. Northern blot analysis detected 2 transcripts in undifferentiated F9 mouse teratocarcinoma cells, but only 1 transcript was present in testis. No expression was detected in other adult mouse tissues. During mouse development, Zfp57 expression increased at embryonic day 11 and peaked at day 13. Immunohistochemical analysis revealed Zfp57 in the nucleus of F9 cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8120052" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Alonso, M. B. D., Zoidl, G., Taveggia, C., Bosse, F., Zoidl, C., Rahman, M., Parmantier, E., Dean, C. H., Harris, B. S., Wrabetz, L., Mueller, H. W., Jessen, K. R., Mirsky, R. <strong>Identification and characterization of ZFP-57, a novel zinc finger transcription factor in the mammalian peripheral nervous system.</strong> J. Biol. Chem. 279: 25653-25664, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15070898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15070898</a>] [<a href="https://doi.org/10.1074/jbc.M400415200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15070898">Alonso et al. (2004)</a> cloned mouse and rat Zfp57. Both rodent proteins have an N-terminal KRAB domain with a highly divergent KRAB B region, 5 zinc finger motifs, a C-terminal nuclear localization signal, and numerous putative phosphorylation sites. During mouse and rat development, highest expression was detected in embryonic nerves and spinal cord, with lower expression in brain. Lung was the only non-neural tissue examined that expressed Zfp57 throughout development. Zfp57 expression in the nervous system dropped rapidly during the first few weeks after birth. Zfp57 localized to the nucleus of Schwann and other cells. In mouse fibroblasts, fluorescence-tagged Zfp57 colocalized with heterochromatin protein 1-alpha (CBX5; <a href="/entry/604478">604478</a>) at centromeric heterochromatin in a speckled nuclear pattern, and this localization required the KRAB domain of Zfp57. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15070898" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Mackay, D. J. G., Callaway, J. L. A., Marks, S. M., White, H. E., Acerini, C. L., Boonen, S. E., Dayanikli, P., Firth, H. V., Goodship, J. A., Haemers, A. P., Hahnemann, J. M. D., Kordonouri, O., Masoud, A. F., Oestergaard, E., Storr, J., Ellard, S., Hattersley, A. T., Robinson, D. O., Temple, I. K. <strong>Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.</strong> Nature Genet. 40: 949-951, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18622393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18622393</a>] [<a href="https://doi.org/10.1038/ng.187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18622393">Mackay et al. (2008)</a> found that the human ZFP57 gene encodes a protein of 516 amino acids that includes a predicted KRAB domain and 7 zinc fingers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18622393" 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 Northern blot analysis of adult mouse tissues, <a href="#5" class="mim-tip-reference" title="Li, X., Ito, M., Zhou, F., Youngson, N., Zuo, X., Leder, P., Ferguson-Smith, A. C. <strong>A maternal-zygotic effect gene, Zfp57, maintains both maternal and paternal imprints.</strong> Dev. Cell 15: 547-557, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18854139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18854139</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18854139[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.devcel.2008.08.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18854139">Li et al. (2008)</a> found that Zfp57 was expressed predominantly in testis and ovary. In situ hybridization showed that Zfp57 expression in ovary was restricted to oocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18854139" 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="Mackay, D. J. G., Callaway, J. L. A., Marks, S. M., White, H. E., Acerini, C. L., Boonen, S. E., Dayanikli, P., Firth, H. V., Goodship, J. A., Haemers, A. P., Hahnemann, J. M. D., Kordonouri, O., Masoud, A. F., Oestergaard, E., Storr, J., Ellard, S., Hattersley, A. T., Robinson, D. O., Temple, I. K. <strong>Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.</strong> Nature Genet. 40: 949-951, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18622393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18622393</a>] [<a href="https://doi.org/10.1038/ng.187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18622393">Mackay et al. (2008)</a> found that the ZFP57 gene comprises 6 exons and spans 8.5 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18622393" 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="Mackay, D. J. G., Callaway, J. L. A., Marks, S. M., White, H. E., Acerini, C. L., Boonen, S. E., Dayanikli, P., Firth, H. V., Goodship, J. A., Haemers, A. P., Hahnemann, J. M. D., Kordonouri, O., Masoud, A. F., Oestergaard, E., Storr, J., Ellard, S., Hattersley, A. T., Robinson, D. O., Temple, I. K. <strong>Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.</strong> Nature Genet. 40: 949-951, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18622393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18622393</a>] [<a href="https://doi.org/10.1038/ng.187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18622393">Mackay et al. (2008)</a> mapped the ZFP57 gene to chromosome 6p22.1 by linkage analysis and genomic sequence analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18622393" 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 7 families with syndromic transient neonatal diabetes and hypomethylation of multiple imprinted loci (TNDM1; <a href="/entry/601410">601410</a>), including the TND differentially methylated region (DMR) on chromosome 6q24, <a href="#6" class="mim-tip-reference" title="Mackay, D. J. G., Callaway, J. L. A., Marks, S. M., White, H. E., Acerini, C. L., Boonen, S. E., Dayanikli, P., Firth, H. V., Goodship, J. A., Haemers, A. P., Hahnemann, J. M. D., Kordonouri, O., Masoud, A. F., Oestergaard, E., Storr, J., Ellard, S., Hattersley, A. T., Robinson, D. O., Temple, I. K. <strong>Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.</strong> Nature Genet. 40: 949-951, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18622393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18622393</a>] [<a href="https://doi.org/10.1038/ng.187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18622393">Mackay et al. (2008)</a> identified missense, nonsense, and frameshift mutations in the ZFP57 gene. The variable but stable mosaicism of hypomethylation associated with ZFP57 mutation suggested that it has a role in maintenance of imprinted DNA methylation during the earliest multicellular stages of development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18622393" 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="Alonso, M. B. D., Zoidl, G., Taveggia, C., Bosse, F., Zoidl, C., Rahman, M., Parmantier, E., Dean, C. H., Harris, B. S., Wrabetz, L., Mueller, H. W., Jessen, K. R., Mirsky, R. <strong>Identification and characterization of ZFP-57, a novel zinc finger transcription factor in the mammalian peripheral nervous system.</strong> J. Biol. Chem. 279: 25653-25664, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15070898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15070898</a>] [<a href="https://doi.org/10.1074/jbc.M400415200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15070898">Alonso et al. (2004)</a> showed that rodent Zfp57 repressed transcription. Zfp57 expression was upregulated in Schwann cells in response to leukemia-inhibitory factor (LIF; <a href="/entry/159540">159540</a>) and Fgf2 (<a href="/entry/134920">134920</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15070898" 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 coimmunoprecipitation analysis, <a href="#5" class="mim-tip-reference" title="Li, X., Ito, M., Zhou, F., Youngson, N., Zuo, X., Leder, P., Ferguson-Smith, A. C. <strong>A maternal-zygotic effect gene, Zfp57, maintains both maternal and paternal imprints.</strong> Dev. Cell 15: 547-557, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18854139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18854139</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18854139[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.devcel.2008.08.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18854139">Li et al. (2008)</a> showed that mouse Zfp57 interacted with the corepressor Kap1 in transfected COS cells. Binding between endogenous Zfp57 and Kap1 was confirmed in mouse embryonic stem cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18854139" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Mackay, D. J. G., Callaway, J. L. A., Marks, S. M., White, H. E., Acerini, C. L., Boonen, S. E., Dayanikli, P., Firth, H. V., Goodship, J. A., Haemers, A. P., Hahnemann, J. M. D., Kordonouri, O., Masoud, A. F., Oestergaard, E., Storr, J., Ellard, S., Hattersley, A. T., Robinson, D. O., Temple, I. K. <strong>Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.</strong> Nature Genet. 40: 949-951, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18622393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18622393</a>] [<a href="https://doi.org/10.1038/ng.187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18622393">Mackay et al. (2008)</a> noted that ZFP57 is expressed in pluripotent murine embryonic stem cells (<a href="#8" class="mim-tip-reference" title="Ramalho-Santos, M., Yoon, S., Matsuzaki, Y., Mulligan, R. C., Melton, D. A. <strong>'Stemness': transcriptional profiling of embryonic and adult stem cells.</strong> Science 298: 597-600, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12228720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12228720</a>] [<a href="https://doi.org/10.1126/science.1072530" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12228720">Ramalho-Santos et al., 2002</a>; <a href="#4" class="mim-tip-reference" title="Ivanova, N. B., Dimos, J. T., Schaniel, C., Hackney, J. A., Moore, K. A., Lemischka, I. R. <strong>A stem cell molecular signature.</strong> Science 298: 601-604, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12228721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12228721</a>] [<a href="https://doi.org/10.1126/science.1073823" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12228721">Ivanova et al., 2002</a>) and is a functional target of STAT3 (<a href="/entry/102582">102582</a>) and POU5F1 (<a href="/entry/164177">164177</a>), although it is in itself dispensable for maintenance of stem cell pluripotency and self-renewal (<a href="#1" class="mim-tip-reference" title="Akagi, T., Usuda, M., Matsuda, T., Ko, M. S. H., Niwa, H., Asano, M., Koide, H., Yokota, T. <strong>Identification of Zfp-57 as a downstream molecule of STAT3 and Oct-3/4 in embryonic stem cells.</strong> Biochem. Biophys. Res. Commun. 331: 23-30, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15845352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15845352</a>] [<a href="https://doi.org/10.1016/j.bbrc.2005.03.118" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15845352">Akagi et al., 2005</a>). The variable but stable mosaicism of hypomethylation associated with ZFP57 mutation suggested to <a href="#6" class="mim-tip-reference" title="Mackay, D. J. G., Callaway, J. L. A., Marks, S. M., White, H. E., Acerini, C. L., Boonen, S. E., Dayanikli, P., Firth, H. V., Goodship, J. A., Haemers, A. P., Hahnemann, J. M. D., Kordonouri, O., Masoud, A. F., Oestergaard, E., Storr, J., Ellard, S., Hattersley, A. T., Robinson, D. O., Temple, I. K. <strong>Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.</strong> Nature Genet. 40: 949-951, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18622393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18622393</a>] [<a href="https://doi.org/10.1038/ng.187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18622393">Mackay et al. (2008)</a> that it has a role in maintenance of imprinted DNA methylation during the earliest multicellular stages of development. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18622393+15845352+12228721+12228720" 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="#5" class="mim-tip-reference" title="Li, X., Ito, M., Zhou, F., Youngson, N., Zuo, X., Leder, P., Ferguson-Smith, A. C. <strong>A maternal-zygotic effect gene, Zfp57, maintains both maternal and paternal imprints.</strong> Dev. Cell 15: 547-557, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18854139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18854139</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18854139[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.devcel.2008.08.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18854139">Li et al. (2008)</a> found that Zfp57 deletion in mice resulted in a high degree of embryonic and neonatal lethality. Analysis of percent of lethality in the offspring of all possible matings of wildtype, Zfp57 -/-, and Zfp57 +/- animals, as well as of crosses with oocytes in which Zfp57 was conditionally ablated, revealed that the percent of lethality in any litter depended on both the dosage and parent of origin of the deletion. Mutant oocytes from Zfp57 -/- females lacked maternal imprinting at the Snrpn locus (<a href="/entry/182279">182279</a>), but imprints at other maternally methylated regions were normal. Deletion of Zfp57 in the male germline had no effect on paternal imprint patterns. In the zygote, acquisition of a normal paternal Zfp57 allele rescued imprinting of maternally derived Snrpn and resulted in zygote and embryonic viability. However, mating between Zfp57 -/- animals resulted in complete embryonic lethality, with defective imprinting at the maternal Snrpn locus and at several paternal imprinted regions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18854139" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 2 children with transient neonatal diabetes (TNDM1; <a href="/entry/601410">601410</a>) from a consanguineous union, <a href="#6" class="mim-tip-reference" title="Mackay, D. J. G., Callaway, J. L. A., Marks, S. M., White, H. E., Acerini, C. L., Boonen, S. E., Dayanikli, P., Firth, H. V., Goodship, J. A., Haemers, A. P., Hahnemann, J. M. D., Kordonouri, O., Masoud, A. F., Oestergaard, E., Storr, J., Ellard, S., Hattersley, A. T., Robinson, D. O., Temple, I. K. <strong>Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.</strong> Nature Genet. 40: 949-951, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18622393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18622393</a>] [<a href="https://doi.org/10.1038/ng.187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18622393">Mackay et al. (2008)</a> identified homozygosity for a C-to-A transversion at nucleotide 723 of the ZFP57 gene, resulting in a cys-to-stop codon substitution at amino acid 241 (C241X). One patient, evaluated at 6 years of age, had presented with neonatal diabetes which required insulin for the first 7 months of life, microcephaly, and herniated umbilical cord. She also had patent ductus arteriosus, bilateral postaxial polydactyly of the hands, bilateral hypermetropia, macroglossia, and mild developmental delay. Relapse of diabetes occurred at 2 years and 8 months of age. The second patient, who died at 11 months of age, had neonatal diabetes requiring insulin until death, microcephaly and intrauterine growth retardation (birth weight 2,000 grams), umbilical hernia, septal defect, macroglossia, tracheomalacia, severe epilepsy, and cerebral blindness. These patients had been described by <a href="#3" class="mim-tip-reference" title="Boonen, S. E., Porksen, S., Mackay, D. J. G., Oestergaard, E., Olsen, B., Brondum-Nielsen, K., Temple, I. K., Hahnemann, J. M. D. <strong>Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings.</strong> Europ. J. Hum. Genet. 16: 453-461, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18197189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18197189</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201993" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18197189">Boonen et al. (2008)</a>, who found a mosaic spectrum of hypomethylation at multiple maternally methylated loci. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=18622393+18197189" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a consanguineous family with transient neonatal diabetes (TNDM1; <a href="/entry/601410">601410</a>), <a href="#6" class="mim-tip-reference" title="Mackay, D. J. G., Callaway, J. L. A., Marks, S. M., White, H. E., Acerini, C. L., Boonen, S. E., Dayanikli, P., Firth, H. V., Goodship, J. A., Haemers, A. P., Hahnemann, J. M. D., Kordonouri, O., Masoud, A. F., Oestergaard, E., Storr, J., Ellard, S., Hattersley, A. T., Robinson, D. O., Temple, I. K. <strong>Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.</strong> Nature Genet. 40: 949-951, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18622393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18622393</a>] [<a href="https://doi.org/10.1038/ng.187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18622393">Mackay et al. (2008)</a> identified a 2-bp deletion of AG at nucleotides 257 and 258 of the ZFP57 gene (257_258delAG), resulting in a frameshift and premature termination 28 amino acids after codon 86 (Glu86ValfsTer28). The proband was identified at 5 months of age. He had had transient neonatal diabetes requiring insulin for the first 3.5 months. He had normal growth and development at that age with no syndromic features. His father at age 38 years was ascertained through family studies. He had no early history of diabetes; birth parameters were unknown. He was healthy at 38 years of age without evidence of diabetes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18622393" 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 6-month-old child with transient neonatal diabetes (TNDM1; <a href="/entry/601410">601410</a>) from a consanguineous union, <a href="#6" class="mim-tip-reference" title="Mackay, D. J. G., Callaway, J. L. A., Marks, S. M., White, H. E., Acerini, C. L., Boonen, S. E., Dayanikli, P., Firth, H. V., Goodship, J. A., Haemers, A. P., Hahnemann, J. M. D., Kordonouri, O., Masoud, A. F., Oestergaard, E., Storr, J., Ellard, S., Hattersley, A. T., Robinson, D. O., Temple, I. K. <strong>Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.</strong> Nature Genet. 40: 949-951, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18622393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18622393</a>] [<a href="https://doi.org/10.1038/ng.187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18622393">Mackay et al. (2008)</a> identified homozygosity for a single-nucleotide deletion at nucleotide 1323 of the ZFP57 gene (1323delC). This resulted in a frameshift and termination codon 17 amino acids downstream (Gly441GlyfsTer17). The baby required insulin for the first 4 months. He was born small for gestational age and had clinodactyly, bilateral failure of flexion at interphalangeal joints of the fifth digit, possible epilepsy with roving eye movements, and suspected cerebral blindness. He had severe developmental delay and was developing cerebellar palsy. MRI showed partial agenesis of corpus callosum, dilatation of temporal horns, and hypoplasia of cerebellar vermis. He had micrognathia despite macroglossia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18622393" 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 an 18-month-old fraternal twin with transient neonatal diabetes (TNDM1; <a href="/entry/601410">601410</a>) from a consanguineous union, <a href="#6" class="mim-tip-reference" title="Mackay, D. J. G., Callaway, J. L. A., Marks, S. M., White, H. E., Acerini, C. L., Boonen, S. E., Dayanikli, P., Firth, H. V., Goodship, J. A., Haemers, A. P., Hahnemann, J. M. D., Kordonouri, O., Masoud, A. F., Oestergaard, E., Storr, J., Ellard, S., Hattersley, A. T., Robinson, D. O., Temple, I. K. <strong>Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.</strong> Nature Genet. 40: 949-951, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18622393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18622393</a>] [<a href="https://doi.org/10.1038/ng.187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18622393">Mackay et al. (2008)</a> identified a homozygous C-to-G transversion at nucleotide 1312 of the ZFP57 gene resulting in a histidine-to-aspartic acid substitution at codon 438 (H438D). The histidine at codon 438 is completely conserved throughout evolution. The patient had transient neonatal diabetes that required insulin for the first month of life. He was born small for gestational age and had macroglossia, tetralogy of Fallot, and mild developmental delay. No neurologic imaging was done. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18622393" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs77625743 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs77625743;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/rs77625743?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=rs77625743" 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=rs77625743" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a male child with transient neonatal diabetes (TNDM1; <a href="/entry/601410">601410</a>) from a consanguineous union, <a href="#6" class="mim-tip-reference" title="Mackay, D. J. G., Callaway, J. L. A., Marks, S. M., White, H. E., Acerini, C. L., Boonen, S. E., Dayanikli, P., Firth, H. V., Goodship, J. A., Haemers, A. P., Hahnemann, J. M. D., Kordonouri, O., Masoud, A. F., Oestergaard, E., Storr, J., Ellard, S., Hattersley, A. T., Robinson, D. O., Temple, I. K. <strong>Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.</strong> Nature Genet. 40: 949-951, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18622393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18622393</a>] [<a href="https://doi.org/10.1038/ng.187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18622393">Mackay et al. (2008)</a> identified homozygosity for a G-to-A transition at nucleotide 683 of the ZFP57 gene, resulting in an arg-to-his substitution at codon 228 (R228H). The arginine at this location is conserved throughout evolution. The patient was 11 years of age at the time of the report. He required insulin for the first 4 months of life and had mild developmental delay. Other than a hydrocele and 1 neonatal seizure, he had been healthy. This mutation was also found in compound heterozygosity in another patient with syndromic transient neonatal diabetes (see <a href="#0007">612192.0007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18622393" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs78378398 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs78378398;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=rs78378398" 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=rs78378398" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 23-year-old female who had had transient neonatal diabetes (TNDM1; <a href="/entry/601410">601410</a>), <a href="#6" class="mim-tip-reference" title="Mackay, D. J. G., Callaway, J. L. A., Marks, S. M., White, H. E., Acerini, C. L., Boonen, S. E., Dayanikli, P., Firth, H. V., Goodship, J. A., Haemers, A. P., Hahnemann, J. M. D., Kordonouri, O., Masoud, A. F., Oestergaard, E., Storr, J., Ellard, S., Hattersley, A. T., Robinson, D. O., Temple, I. K. <strong>Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.</strong> Nature Genet. 40: 949-951, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18622393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18622393</a>] [<a href="https://doi.org/10.1038/ng.187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18622393">Mackay et al. (2008)</a> identified a histidine-to-asparagine substitution at codon 257 of the ZFP57 gene (H257N) due to a C-to-A transversion at nucleotide 769. The histidine at codon 257 is completely evolutionarily conserved in species from opossum to human. The patient required insulin for the first 4 months of life and had macroglossia. She grew and developed normally until a relapse of diabetes at 12 years, 6 months of age. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18622393" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs606231123 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs606231123;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/rs606231123?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=rs606231123" 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=rs606231123" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a male child with syndromic transient neonatal diabetes (TNDM1; <a href="/entry/601410">601410</a>), the product of a nonconsanguineous union, <a href="#6" class="mim-tip-reference" title="Mackay, D. J. G., Callaway, J. L. A., Marks, S. M., White, H. E., Acerini, C. L., Boonen, S. E., Dayanikli, P., Firth, H. V., Goodship, J. A., Haemers, A. P., Hahnemann, J. M. D., Kordonouri, O., Masoud, A. F., Oestergaard, E., Storr, J., Ellard, S., Hattersley, A. T., Robinson, D. O., Temple, I. K. <strong>Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.</strong> Nature Genet. 40: 949-951, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18622393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18622393</a>] [<a href="https://doi.org/10.1038/ng.187" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18622393">Mackay et al. (2008)</a> identified compound heterozygosity for an R228H mutation (<a href="#0005">612192.0005</a>) and a frameshift mutation deleting 8 nucleotides after nucleotide 838 (838_845delACCCAGGC), resulting in a frameshift following codon 279 (279fsTer1). The patient required insulin for the first 4 months, was born with an umbilical hernia, and had macroglossia. He had mild hemihypertrophy of the left arm, pectus carinatum, and clinodactyly. He did not walk until 2 years of age and had mild developmental delay requiring special education; specific problems with oromotor dyspraxia, difficulties with expressive language, slow writing, and problems with tripod grip were present. He had mild progressive contractures at wrist, elbow, knees, ankles, and toes, affecting gait. Electromyographic studies (EMG) showed neurogenic changes, and muscle biopsy showed variation in fiber size. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18622393" 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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Akagi, T., Usuda, M., Matsuda, T., Ko, M. S. H., Niwa, H., Asano, M., Koide, H., Yokota, T.
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<strong>Identification of Zfp-57 as a downstream molecule of STAT3 and Oct-3/4 in embryonic stem cells.</strong>
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Biochem. Biophys. Res. Commun. 331: 23-30, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15845352/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15845352</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15845352" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.bbrc.2005.03.118" target="_blank">Full Text</a>]
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Alonso, M. B. D., Zoidl, G., Taveggia, C., Bosse, F., Zoidl, C., Rahman, M., Parmantier, E., Dean, C. H., Harris, B. S., Wrabetz, L., Mueller, H. W., Jessen, K. R., Mirsky, R.
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<strong>Identification and characterization of ZFP-57, a novel zinc finger transcription factor in the mammalian peripheral nervous system.</strong>
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J. Biol. Chem. 279: 25653-25664, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15070898/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15070898</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15070898" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Boonen, S. E., Porksen, S., Mackay, D. J. G., Oestergaard, E., Olsen, B., Brondum-Nielsen, K., Temple, I. K., Hahnemann, J. M. D.
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<strong>Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings.</strong>
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Europ. J. Hum. Genet. 16: 453-461, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18197189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18197189</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18197189" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Ivanova, N. B., Dimos, J. T., Schaniel, C., Hackney, J. A., Moore, K. A., Lemischka, I. R.
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<strong>A stem cell molecular signature.</strong>
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Science 298: 601-604, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12228721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12228721</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12228721" 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.1073823" target="_blank">Full Text</a>]
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Li2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Li, X., Ito, M., Zhou, F., Youngson, N., Zuo, X., Leder, P., Ferguson-Smith, A. C.
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<strong>A maternal-zygotic effect gene, Zfp57, maintains both maternal and paternal imprints.</strong>
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Dev. Cell 15: 547-557, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18854139/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18854139</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18854139[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=18854139" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.devcel.2008.08.014" target="_blank">Full Text</a>]
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Mackay2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mackay, D. J. G., Callaway, J. L. A., Marks, S. M., White, H. E., Acerini, C. L., Boonen, S. E., Dayanikli, P., Firth, H. V., Goodship, J. A., Haemers, A. P., Hahnemann, J. M. D., Kordonouri, O., Masoud, A. F., Oestergaard, E., Storr, J., Ellard, S., Hattersley, A. T., Robinson, D. O., Temple, I. K.
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<strong>Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.</strong>
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Nature Genet. 40: 949-951, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18622393/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18622393</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18622393" 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/ng.187" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Okazaki1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Okazaki, S., Tanase, S., Choudhury, B. K., Setoyama, K., Miura, R., Ogawa, M., Setoyama, C.
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<strong>A novel nuclear protein with zinc fingers down-regulated during early mammalian cell differentiation.</strong>
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J. Biol. Chem. 269: 6900-6907, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8120052/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8120052</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8120052" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</li>
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<a id="8" class="mim-anchor"></a>
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<a id="Ramalho-Santos2002" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ramalho-Santos, M., Yoon, S., Matsuzaki, Y., Mulligan, R. C., Melton, D. A.
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<strong>'Stemness': transcriptional profiling of embryonic and adult stem cells.</strong>
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Science 298: 597-600, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12228720/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12228720</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12228720" 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.1072530" target="_blank">Full Text</a>]
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</p>
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</ol>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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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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Patricia A. Hartz - updated : 8/28/2009
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 10/24/2008
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</span>
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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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Patricia A. Hartz : 8/11/2008
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</span>
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<a id="editHistory" class="mim-anchor"></a>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/27/2019
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 09/27/2019<br>mgross : 03/07/2019<br>carol : 03/07/2019<br>carol : 03/04/2019<br>carol : 10/20/2016<br>carol : 11/07/2014<br>alopez : 2/12/2014<br>mcolton : 11/20/2013<br>terry : 6/11/2012<br>carol : 3/15/2012<br>alopez : 9/30/2009<br>mgross : 9/15/2009<br>terry : 8/28/2009<br>joanna : 4/8/2009<br>alopez : 11/10/2008<br>terry : 10/24/2008<br>mgross : 10/20/2008<br>mgross : 8/11/2008
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</span>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 612192
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<div>
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<h3>
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ZFP57 ZINC FINGER PROTEIN; ZFP57
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</span>
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</h3>
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</div>
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<div>
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<br />
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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ZINC FINGER PROTEIN 57, MOUSE, HOMOLOG OF
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: ZFP57</em></strong>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 609579009;
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</span>
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<strong>
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<em>
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Cytogenetic location: 6p22.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 6:29,672,392-29,681,152 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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<tbody>
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<td rowspan="1">
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<span class="mim-font">
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6p22.1
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<td>
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<span class="mim-font">
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Diabetes mellitus, transient neonatal 1
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<span class="mim-font">
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601410
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<td>
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<span class="mim-font">
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Autosomal dominant; Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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<span class="mim-font">
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<strong>TEXT</strong>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</div>
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<span class="mim-text-font">
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<p>KRAB zinc finger proteins, such as ZFP57, act as potent transcriptional repressors through KRAB box-mediated interaction with KAP1 (TRIM28; 601742) corepressor complexes. ZFP57 is a maternal-zygotic effect gene that contributes to the stable maintenance of methylation imprints during development (Li et al., 2008). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Okazaki et al. (1994) cloned cDNAs for 2 mouse Zfp57 transcripts that differed only in their 3-prime UTRs. Both transcripts encode a highly basic 421-amino acid protein containing 5 C2H2-type zinc finger motifs, followed by a putative nuclear localization signal and an acidic region at the C terminus. Northern blot analysis detected 2 transcripts in undifferentiated F9 mouse teratocarcinoma cells, but only 1 transcript was present in testis. No expression was detected in other adult mouse tissues. During mouse development, Zfp57 expression increased at embryonic day 11 and peaked at day 13. Immunohistochemical analysis revealed Zfp57 in the nucleus of F9 cells. </p><p>Alonso et al. (2004) cloned mouse and rat Zfp57. Both rodent proteins have an N-terminal KRAB domain with a highly divergent KRAB B region, 5 zinc finger motifs, a C-terminal nuclear localization signal, and numerous putative phosphorylation sites. During mouse and rat development, highest expression was detected in embryonic nerves and spinal cord, with lower expression in brain. Lung was the only non-neural tissue examined that expressed Zfp57 throughout development. Zfp57 expression in the nervous system dropped rapidly during the first few weeks after birth. Zfp57 localized to the nucleus of Schwann and other cells. In mouse fibroblasts, fluorescence-tagged Zfp57 colocalized with heterochromatin protein 1-alpha (CBX5; 604478) at centromeric heterochromatin in a speckled nuclear pattern, and this localization required the KRAB domain of Zfp57. </p><p>Mackay et al. (2008) found that the human ZFP57 gene encodes a protein of 516 amino acids that includes a predicted KRAB domain and 7 zinc fingers. </p><p>Using Northern blot analysis of adult mouse tissues, Li et al. (2008) found that Zfp57 was expressed predominantly in testis and ovary. In situ hybridization showed that Zfp57 expression in ovary was restricted to oocytes. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
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<strong>Gene Structure</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>Mackay et al. (2008) found that the ZFP57 gene comprises 6 exons and spans 8.5 kb. </p>
|
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
|
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<strong>Mapping</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
|
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<p>Mackay et al. (2008) mapped the ZFP57 gene to chromosome 6p22.1 by linkage analysis and genomic sequence analysis. </p>
|
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</span>
|
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<div>
|
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<br />
|
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Molecular Genetics</strong>
|
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</span>
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</h4>
|
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</div>
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<span class="mim-text-font">
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<p>In 7 families with syndromic transient neonatal diabetes and hypomethylation of multiple imprinted loci (TNDM1; 601410), including the TND differentially methylated region (DMR) on chromosome 6q24, Mackay et al. (2008) identified missense, nonsense, and frameshift mutations in the ZFP57 gene. The variable but stable mosaicism of hypomethylation associated with ZFP57 mutation suggested that it has a role in maintenance of imprinted DNA methylation during the earliest multicellular stages of development. </p>
|
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</span>
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<div>
|
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Gene Function</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Alonso et al. (2004) showed that rodent Zfp57 repressed transcription. Zfp57 expression was upregulated in Schwann cells in response to leukemia-inhibitory factor (LIF; 159540) and Fgf2 (134920). </p><p>Using coimmunoprecipitation analysis, Li et al. (2008) showed that mouse Zfp57 interacted with the corepressor Kap1 in transfected COS cells. Binding between endogenous Zfp57 and Kap1 was confirmed in mouse embryonic stem cells. </p><p>Mackay et al. (2008) noted that ZFP57 is expressed in pluripotent murine embryonic stem cells (Ramalho-Santos et al., 2002; Ivanova et al., 2002) and is a functional target of STAT3 (102582) and POU5F1 (164177), although it is in itself dispensable for maintenance of stem cell pluripotency and self-renewal (Akagi et al., 2005). The variable but stable mosaicism of hypomethylation associated with ZFP57 mutation suggested to Mackay et al. (2008) that it has a role in maintenance of imprinted DNA methylation during the earliest multicellular stages of development. </p>
|
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</span>
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<div>
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<br />
|
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>Animal Model</strong>
|
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Li et al. (2008) found that Zfp57 deletion in mice resulted in a high degree of embryonic and neonatal lethality. Analysis of percent of lethality in the offspring of all possible matings of wildtype, Zfp57 -/-, and Zfp57 +/- animals, as well as of crosses with oocytes in which Zfp57 was conditionally ablated, revealed that the percent of lethality in any litter depended on both the dosage and parent of origin of the deletion. Mutant oocytes from Zfp57 -/- females lacked maternal imprinting at the Snrpn locus (182279), but imprints at other maternally methylated regions were normal. Deletion of Zfp57 in the male germline had no effect on paternal imprint patterns. In the zygote, acquisition of a normal paternal Zfp57 allele rescued imprinting of maternally derived Snrpn and resulted in zygote and embryonic viability. However, mating between Zfp57 -/- animals resulted in complete embryonic lethality, with defective imprinting at the maternal Snrpn locus and at several paternal imprinted regions. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>7 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 DIABETES MELLITUS, TRANSIENT NEONATAL, 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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ZFP57, CYS241TER
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<br />
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SNP: rs61730328,
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gnomAD: rs61730328,
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ClinVar: RCV000000751
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 children with transient neonatal diabetes (TNDM1; 601410) from a consanguineous union, Mackay et al. (2008) identified homozygosity for a C-to-A transversion at nucleotide 723 of the ZFP57 gene, resulting in a cys-to-stop codon substitution at amino acid 241 (C241X). One patient, evaluated at 6 years of age, had presented with neonatal diabetes which required insulin for the first 7 months of life, microcephaly, and herniated umbilical cord. She also had patent ductus arteriosus, bilateral postaxial polydactyly of the hands, bilateral hypermetropia, macroglossia, and mild developmental delay. Relapse of diabetes occurred at 2 years and 8 months of age. The second patient, who died at 11 months of age, had neonatal diabetes requiring insulin until death, microcephaly and intrauterine growth retardation (birth weight 2,000 grams), umbilical hernia, septal defect, macroglossia, tracheomalacia, severe epilepsy, and cerebral blindness. These patients had been described by Boonen et al. (2008), who found a mosaic spectrum of hypomethylation at multiple maternally methylated loci. </p>
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</span>
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</div>
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<div>
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 DIABETES MELLITUS, TRANSIENT NEONATAL, 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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ZFP57, 2-BP DEL, 257AG
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<br />
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SNP: rs606231121,
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ClinVar: RCV000000752
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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 consanguineous family with transient neonatal diabetes (TNDM1; 601410), Mackay et al. (2008) identified a 2-bp deletion of AG at nucleotides 257 and 258 of the ZFP57 gene (257_258delAG), resulting in a frameshift and premature termination 28 amino acids after codon 86 (Glu86ValfsTer28). The proband was identified at 5 months of age. He had had transient neonatal diabetes requiring insulin for the first 3.5 months. He had normal growth and development at that age with no syndromic features. His father at age 38 years was ascertained through family studies. He had no early history of diabetes; birth parameters were unknown. He was healthy at 38 years of age without evidence of diabetes. </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 DIABETES MELLITUS, TRANSIENT NEONATAL, 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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ZFP57, 1-BP DEL, 1323C
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<br />
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SNP: rs606231122,
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ClinVar: RCV000000753
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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 6-month-old child with transient neonatal diabetes (TNDM1; 601410) from a consanguineous union, Mackay et al. (2008) identified homozygosity for a single-nucleotide deletion at nucleotide 1323 of the ZFP57 gene (1323delC). This resulted in a frameshift and termination codon 17 amino acids downstream (Gly441GlyfsTer17). The baby required insulin for the first 4 months. He was born small for gestational age and had clinodactyly, bilateral failure of flexion at interphalangeal joints of the fifth digit, possible epilepsy with roving eye movements, and suspected cerebral blindness. He had severe developmental delay and was developing cerebellar palsy. MRI showed partial agenesis of corpus callosum, dilatation of temporal horns, and hypoplasia of cerebellar vermis. He had micrognathia despite macroglossia. </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 DIABETES MELLITUS, TRANSIENT NEONATAL, 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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ZFP57, HIS438ASP
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<br />
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SNP: rs79020217,
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ClinVar: RCV000000754
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In an 18-month-old fraternal twin with transient neonatal diabetes (TNDM1; 601410) from a consanguineous union, Mackay et al. (2008) identified a homozygous C-to-G transversion at nucleotide 1312 of the ZFP57 gene resulting in a histidine-to-aspartic acid substitution at codon 438 (H438D). The histidine at codon 438 is completely conserved throughout evolution. The patient had transient neonatal diabetes that required insulin for the first month of life. He was born small for gestational age and had macroglossia, tetralogy of Fallot, and mild developmental delay. No neurologic imaging was done. </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>.0005 DIABETES MELLITUS, TRANSIENT NEONATAL, 1</strong>
|
|
</span>
|
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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ZFP57, ARG228HIS
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<br />
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SNP: rs77625743,
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gnomAD: rs77625743,
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|
|
ClinVar: RCV000000755
|
|
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|
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</span>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In a male child with transient neonatal diabetes (TNDM1; 601410) from a consanguineous union, Mackay et al. (2008) identified homozygosity for a G-to-A transition at nucleotide 683 of the ZFP57 gene, resulting in an arg-to-his substitution at codon 228 (R228H). The arginine at this location is conserved throughout evolution. The patient was 11 years of age at the time of the report. He required insulin for the first 4 months of life and had mild developmental delay. Other than a hydrocele and 1 neonatal seizure, he had been healthy. This mutation was also found in compound heterozygosity in another patient with syndromic transient neonatal diabetes (see 612192.0007). </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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0006 DIABETES MELLITUS, TRANSIENT NEONATAL, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
|
|
<span class="mim-text-font">
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|
|
ZFP57, HIS257ASN
|
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|
|
<br />
|
|
|
|
SNP: rs78378398,
|
|
|
|
|
|
|
|
ClinVar: RCV000000756
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a 23-year-old female who had had transient neonatal diabetes (TNDM1; 601410), Mackay et al. (2008) identified a histidine-to-asparagine substitution at codon 257 of the ZFP57 gene (H257N) due to a C-to-A transversion at nucleotide 769. The histidine at codon 257 is completely evolutionarily conserved in species from opossum to human. The patient required insulin for the first 4 months of life and had macroglossia. She grew and developed normally until a relapse of diabetes at 12 years, 6 months of age. </p>
|
|
</span>
|
|
</div>
|
|
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|
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|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0007 DIABETES MELLITUS, TRANSIENT NEONATAL, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<span class="mim-text-font">
|
|
|
|
ZFP57, 8-BP DEL, NT838
|
|
|
|
|
|
<br />
|
|
|
|
SNP: rs606231123,
|
|
|
|
|
|
gnomAD: rs606231123,
|
|
|
|
|
|
ClinVar: RCV000000757
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
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|
|
<div>
|
|
<span class="mim-text-font">
|
|
<p>In a male child with syndromic transient neonatal diabetes (TNDM1; 601410), the product of a nonconsanguineous union, Mackay et al. (2008) identified compound heterozygosity for an R228H mutation (612192.0005) and a frameshift mutation deleting 8 nucleotides after nucleotide 838 (838_845delACCCAGGC), resulting in a frameshift following codon 279 (279fsTer1). The patient required insulin for the first 4 months, was born with an umbilical hernia, and had macroglossia. He had mild hemihypertrophy of the left arm, pectus carinatum, and clinodactyly. He did not walk until 2 years of age and had mild developmental delay requiring special education; specific problems with oromotor dyspraxia, difficulties with expressive language, slow writing, and problems with tripod grip were present. He had mild progressive contractures at wrist, elbow, knees, ankles, and toes, affecting gait. Electromyographic studies (EMG) showed neurogenic changes, and muscle biopsy showed variation in fiber size. </p>
|
|
</span>
|
|
</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
|
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<ol>
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<li>
|
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<p class="mim-text-font">
|
|
Akagi, T., Usuda, M., Matsuda, T., Ko, M. S. H., Niwa, H., Asano, M., Koide, H., Yokota, T.
|
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<strong>Identification of Zfp-57 as a downstream molecule of STAT3 and Oct-3/4 in embryonic stem cells.</strong>
|
|
Biochem. Biophys. Res. Commun. 331: 23-30, 2005.
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[PubMed: 15845352]
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[Full Text: https://doi.org/10.1016/j.bbrc.2005.03.118]
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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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Alonso, M. B. D., Zoidl, G., Taveggia, C., Bosse, F., Zoidl, C., Rahman, M., Parmantier, E., Dean, C. H., Harris, B. S., Wrabetz, L., Mueller, H. W., Jessen, K. R., Mirsky, R.
|
|
<strong>Identification and characterization of ZFP-57, a novel zinc finger transcription factor in the mammalian peripheral nervous system.</strong>
|
|
J. Biol. Chem. 279: 25653-25664, 2004.
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[PubMed: 15070898]
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[Full Text: https://doi.org/10.1074/jbc.M400415200]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Boonen, S. E., Porksen, S., Mackay, D. J. G., Oestergaard, E., Olsen, B., Brondum-Nielsen, K., Temple, I. K., Hahnemann, J. M. D.
|
|
<strong>Clinical characterisation of the multiple maternal hypomethylation syndrome in siblings.</strong>
|
|
Europ. J. Hum. Genet. 16: 453-461, 2008.
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[PubMed: 18197189]
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[Full Text: https://doi.org/10.1038/sj.ejhg.5201993]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Ivanova, N. B., Dimos, J. T., Schaniel, C., Hackney, J. A., Moore, K. A., Lemischka, I. R.
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|
<strong>A stem cell molecular signature.</strong>
|
|
Science 298: 601-604, 2002.
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[PubMed: 12228721]
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[Full Text: https://doi.org/10.1126/science.1073823]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Li, X., Ito, M., Zhou, F., Youngson, N., Zuo, X., Leder, P., Ferguson-Smith, A. C.
|
|
<strong>A maternal-zygotic effect gene, Zfp57, maintains both maternal and paternal imprints.</strong>
|
|
Dev. Cell 15: 547-557, 2008.
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[PubMed: 18854139]
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[Full Text: https://doi.org/10.1016/j.devcel.2008.08.014]
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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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Mackay, D. J. G., Callaway, J. L. A., Marks, S. M., White, H. E., Acerini, C. L., Boonen, S. E., Dayanikli, P., Firth, H. V., Goodship, J. A., Haemers, A. P., Hahnemann, J. M. D., Kordonouri, O., Masoud, A. F., Oestergaard, E., Storr, J., Ellard, S., Hattersley, A. T., Robinson, D. O., Temple, I. K.
|
|
<strong>Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.</strong>
|
|
Nature Genet. 40: 949-951, 2008.
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|
[PubMed: 18622393]
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[Full Text: https://doi.org/10.1038/ng.187]
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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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Okazaki, S., Tanase, S., Choudhury, B. K., Setoyama, K., Miura, R., Ogawa, M., Setoyama, C.
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<strong>A novel nuclear protein with zinc fingers down-regulated during early mammalian cell differentiation.</strong>
|
|
J. Biol. Chem. 269: 6900-6907, 1994.
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[PubMed: 8120052]
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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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Ramalho-Santos, M., Yoon, S., Matsuzaki, Y., Mulligan, R. C., Melton, D. A.
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<strong>'Stemness': transcriptional profiling of embryonic and adult stem cells.</strong>
|
|
Science 298: 597-600, 2002.
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[PubMed: 12228720]
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[Full Text: https://doi.org/10.1126/science.1072530]
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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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Patricia A. Hartz - updated : 8/28/2009<br>Ada Hamosh - updated : 10/24/2008
|
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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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<br />
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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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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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Patricia A. Hartz : 8/11/2008
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</span>
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</div>
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<div>
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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<span class="text-nowrap mim-text-font">
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Edit History:
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carol : 09/27/2019<br>carol : 09/27/2019<br>mgross : 03/07/2019<br>carol : 03/07/2019<br>carol : 03/04/2019<br>carol : 10/20/2016<br>carol : 11/07/2014<br>alopez : 2/12/2014<br>mcolton : 11/20/2013<br>terry : 6/11/2012<br>carol : 3/15/2012<br>alopez : 9/30/2009<br>mgross : 9/15/2009<br>terry : 8/28/2009<br>joanna : 4/8/2009<br>alopez : 11/10/2008<br>terry : 10/24/2008<br>mgross : 10/20/2008<br>mgross : 8/11/2008
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