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Entry
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- *606546 - HYDATIDIFORM MOLE-ASSOCIATED AND IMPRINTED TRANSCRIPT; HYMAI
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- OMIM
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<p>
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<span class="h4">*606546</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<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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<a href="#editHistory"><strong>Edit History</strong></a>
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<div id="mimFloatingLinksMenu">
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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 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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<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=ENSG00000283122;t=ENST00000635591" 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=57061" 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=606546" 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=ENSG00000283122;t=ENST00000635591" 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</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NR_002768" 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://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=606546" 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 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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<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://www.proteinatlas.org/search/HYMAI" 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>
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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=57061" 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=ENSG00000283122;t=ENST00000635591" 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=HYMAI" 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=HYMAI" 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+57061" 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/HYMAI" 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:57061" 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/57061" 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=ENST00000635591.1&hgg_start=144004916&hgg_end=144008259&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:5326" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=606546[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=606546[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/ENSG00000283122" 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.gwascentral.org/search?q=HYMAI" 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="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=HYMAI&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/PA29577" 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><a href="https://www.mousephenotype.org/data/genes/MGI:2651552" 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/HYMAI#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:2651552" 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/57061/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=57061" 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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<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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606546
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HYDATIDIFORM MOLE-ASSOCIATED AND IMPRINTED TRANSCRIPT; HYMAI
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=HYMAI" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">HYMAI</a></em></strong>
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Cytogenetic location: <a href="/geneMap/6/921?start=-3&limit=10&highlight=921">6q24.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr6:144004916-144008259&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'})">6:144,004,916-144,008,259</a> </span>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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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.">
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<strong>TEXT</strong>
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<p>Transient neonatal diabetes mellitus (TNDM; <a href="/entry/601410">601410</a>) is a rare disease characterized by intrauterine growth retardation, dehydration, and failure to thrive due to a lack of normal insulin secretion. This disease is associated with paternal uniparental disomy or paternal duplication of chromosome 6, suggesting that the causative gene(s) for TNDM may be imprinted. By database searching for ESTs that mapped to the TNDM candidate region on 6q24.1-q24.3, followed by RT-PCR analysis using monochromosomal hybrid cells with a human chromosome 6 of defined parental origin, <a href="#1" class="mim-tip-reference" title="Arima, T., Drewell, R. A., Oshimura, M., Wake, N., Surani, M. A. <strong>A novel imprinted gene, HYMAI, is located within an imprinted domain on human chromosome 6 containing ZAC.</strong> Genomics 67: 248-255, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10936046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10936046</a>] [<a href="https://doi.org/10.1006/geno.2000.6266" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10936046">Arima et al. (2000)</a> identified a novel imprinted gene at 6q24, which they named hydatidiform mole-associated and imprinted transcript (HYMAI). The gene, which generates an untranslated mRNA, exhibits differential DNA methylation between the 2 parental alleles at an adjacent CpG island and is expressed only from the paternal chromosome. A previously characterized imprinted gene, ZAC/LOT1 (PLAGL1; <a href="/entry/603044">603044</a>), is located 70 kb downstream of HYMAI and is also expressed only from the paternal allele. In the pancreas, both genes were moderately expressed. The authors proposed that HYMAI and ZAC/LOT1 are candidate genes for involvement in TNDM. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10936046" 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="#1" class="mim-tip-reference" title="Arima, T., Drewell, R. A., Oshimura, M., Wake, N., Surani, M. A. <strong>A novel imprinted gene, HYMAI, is located within an imprinted domain on human chromosome 6 containing ZAC.</strong> Genomics 67: 248-255, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10936046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10936046</a>] [<a href="https://doi.org/10.1006/geno.2000.6266" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10936046">Arima et al. (2000)</a> identified the HYMAI gene on 6q24, within the critical region for TNDM. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10936046" 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="Arima, T., Drewell, R., Arney, K. L., Inoue, J., Makita, Y., Hata, A., Oshimura, M., Wake, N., Surani, M. A. <strong>A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus.</strong> Hum. Molec. Genet. 10: 1475-1483, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11448939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11448939</a>] [<a href="https://doi.org/10.1093/hmg/10.14.1475" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11448939">Arima et al. (2001)</a> showed that the differentially methylated CpG island that partially overlaps Zac1 and Hymai at the syntenic mouse locus is a likely imprinting control region (ICR) for the 120- to 200-kb domain. The region is unmethylated in sperm but probably methylated in oocytes, a difference that persists between parental alleles throughout pre- and postimplantation development. Within this ICR, there is a region that exhibits a high degree of homology between mouse and human and acts as a strong transcriptional repressor when methylated. In 5 of 6 TNDM patients with a normal karyotype studied, loss of methylation at 8 CpG sites within the region was demonstrated. ZAC is a transcriptional regulator of the type 1 receptor for pituitary adenylate cyclase-activating polypeptide (<a href="/entry/102981">102981</a>), a potent insulin secretagogue and an important mediator of autocrine control of insulin secretion in the pancreatic islet. The authors proposed that the ICR adjacent to ZAC may regulate expression of imprinted genes within the domain, and that epigenetic or genetic mutations of this region probably result in TNDM by affecting expression of ZAC in the pancreas and/or the pituitary. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11448939" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#4" class="mim-tip-reference" title="Mackay, D. J. G., Coupe, A.-M., Shield, J. P. H., Storr, J. N. P., Temple, I. K., Robinson, D. O. <strong>Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus.</strong> Hum. Genet. 110: 139-144, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11935319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11935319</a>] [<a href="https://doi.org/10.1007/s00439-001-0671-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11935319">Mackay et al. (2002)</a> demonstrated imprinted expression of the ZAC and HYMAI genes in cases of TNDM. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11935319" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Arima, T., Yamasaki, K., John, R. M., Kato, K., Sakumi, K., Nakabeppu, Y., Wake, N., Kono, T. <strong>The human HYMAI/PLAGL1 differentially methylated region acts as an imprint control region in mice.</strong> Genomics 88: 650-658, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16928428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16928428</a>] [<a href="https://doi.org/10.1016/j.ygeno.2006.07.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16928428">Arima et al. (2006)</a> found that a transgene carrying the human HYMAI/PLAGL1 differentially methylated CpG island was methylated in the correct parent origin-specific manner in mice, and that this methylation was sufficient to confer imprinted expression from the transgene. They concluded that the differentially methylated CpG island functions as the imprinting center for the HYMAI/PLAGL1 imprinted domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16928428" 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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Arima, T., Drewell, R. A., Oshimura, M., Wake, N., Surani, M. A.
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<strong>A novel imprinted gene, HYMAI, is located within an imprinted domain on human chromosome 6 containing ZAC.</strong>
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Genomics 67: 248-255, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10936046/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10936046</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10936046" 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/10.1006/geno.2000.6266" target="_blank">Full Text</a>]
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Arima, T., Drewell, R., Arney, K. L., Inoue, J., Makita, Y., Hata, A., Oshimura, M., Wake, N., Surani, M. A.
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<strong>A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus.</strong>
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Hum. Molec. Genet. 10: 1475-1483, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11448939/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11448939</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11448939" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/10.14.1475" target="_blank">Full Text</a>]
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Arima, T., Yamasaki, K., John, R. M., Kato, K., Sakumi, K., Nakabeppu, Y., Wake, N., Kono, T.
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<strong>The human HYMAI/PLAGL1 differentially methylated region acts as an imprint control region in mice.</strong>
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Genomics 88: 650-658, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16928428/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16928428</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16928428" 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.ygeno.2006.07.005" target="_blank">Full Text</a>]
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Mackay, D. J. G., Coupe, A.-M., Shield, J. P. H., Storr, J. N. P., Temple, I. K., Robinson, D. O.
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<strong>Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus.</strong>
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Hum. Genet. 110: 139-144, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11935319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11935319</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11935319" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00439-001-0671-5" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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Patricia A. Hartz - updated : 11/8/2006
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Victor A. McKusick - updated : 3/11/2002
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George E. Tiller : 12/10/2001
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carol : 03/04/2019
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mgross : 11/28/2006<br>terry : 11/8/2006<br>mgross : 3/11/2002<br>cwells : 12/18/2001<br>alopez : 12/18/2001<br>cwells : 12/18/2001
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<strong>*</strong> 606546
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HYDATIDIFORM MOLE-ASSOCIATED AND IMPRINTED TRANSCRIPT; HYMAI
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<strong><em>HGNC Approved Gene Symbol: HYMAI</em></strong>
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Cytogenetic location: 6q24.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 6:144,004,916-144,008,259 </span>
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</em>
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<span class="small">(from NCBI)</span>
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<strong>TEXT</strong>
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<strong>Cloning and Expression</strong>
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<p>Transient neonatal diabetes mellitus (TNDM; 601410) is a rare disease characterized by intrauterine growth retardation, dehydration, and failure to thrive due to a lack of normal insulin secretion. This disease is associated with paternal uniparental disomy or paternal duplication of chromosome 6, suggesting that the causative gene(s) for TNDM may be imprinted. By database searching for ESTs that mapped to the TNDM candidate region on 6q24.1-q24.3, followed by RT-PCR analysis using monochromosomal hybrid cells with a human chromosome 6 of defined parental origin, Arima et al. (2000) identified a novel imprinted gene at 6q24, which they named hydatidiform mole-associated and imprinted transcript (HYMAI). The gene, which generates an untranslated mRNA, exhibits differential DNA methylation between the 2 parental alleles at an adjacent CpG island and is expressed only from the paternal chromosome. A previously characterized imprinted gene, ZAC/LOT1 (PLAGL1; 603044), is located 70 kb downstream of HYMAI and is also expressed only from the paternal allele. In the pancreas, both genes were moderately expressed. The authors proposed that HYMAI and ZAC/LOT1 are candidate genes for involvement in TNDM. </p>
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<strong>Mapping</strong>
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<p>Arima et al. (2000) identified the HYMAI gene on 6q24, within the critical region for TNDM. </p>
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<strong>Gene Function</strong>
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<p>Arima et al. (2001) showed that the differentially methylated CpG island that partially overlaps Zac1 and Hymai at the syntenic mouse locus is a likely imprinting control region (ICR) for the 120- to 200-kb domain. The region is unmethylated in sperm but probably methylated in oocytes, a difference that persists between parental alleles throughout pre- and postimplantation development. Within this ICR, there is a region that exhibits a high degree of homology between mouse and human and acts as a strong transcriptional repressor when methylated. In 5 of 6 TNDM patients with a normal karyotype studied, loss of methylation at 8 CpG sites within the region was demonstrated. ZAC is a transcriptional regulator of the type 1 receptor for pituitary adenylate cyclase-activating polypeptide (102981), a potent insulin secretagogue and an important mediator of autocrine control of insulin secretion in the pancreatic islet. The authors proposed that the ICR adjacent to ZAC may regulate expression of imprinted genes within the domain, and that epigenetic or genetic mutations of this region probably result in TNDM by affecting expression of ZAC in the pancreas and/or the pituitary. </p><p>Mackay et al. (2002) demonstrated imprinted expression of the ZAC and HYMAI genes in cases of TNDM. </p><p>Arima et al. (2006) found that a transgene carrying the human HYMAI/PLAGL1 differentially methylated CpG island was methylated in the correct parent origin-specific manner in mice, and that this methylation was sufficient to confer imprinted expression from the transgene. They concluded that the differentially methylated CpG island functions as the imprinting center for the HYMAI/PLAGL1 imprinted domain. </p>
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<strong>REFERENCES</strong>
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Arima, T., Drewell, R. A., Oshimura, M., Wake, N., Surani, M. A.
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<strong>A novel imprinted gene, HYMAI, is located within an imprinted domain on human chromosome 6 containing ZAC.</strong>
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Genomics 67: 248-255, 2000.
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[PubMed: 10936046]
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[Full Text: https://doi.org/10.1006/geno.2000.6266]
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Arima, T., Drewell, R., Arney, K. L., Inoue, J., Makita, Y., Hata, A., Oshimura, M., Wake, N., Surani, M. A.
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<strong>A conserved imprinting control region at the HYMAI/ZAC domain is implicated in transient neonatal diabetes mellitus.</strong>
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Hum. Molec. Genet. 10: 1475-1483, 2001.
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[PubMed: 11448939]
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[Full Text: https://doi.org/10.1093/hmg/10.14.1475]
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Arima, T., Yamasaki, K., John, R. M., Kato, K., Sakumi, K., Nakabeppu, Y., Wake, N., Kono, T.
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<strong>The human HYMAI/PLAGL1 differentially methylated region acts as an imprint control region in mice.</strong>
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Genomics 88: 650-658, 2006.
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[PubMed: 16928428]
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[Full Text: https://doi.org/10.1016/j.ygeno.2006.07.005]
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Mackay, D. J. G., Coupe, A.-M., Shield, J. P. H., Storr, J. N. P., Temple, I. K., Robinson, D. O.
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<strong>Relaxation of imprinted expression of ZAC and HYMAI in a patient with transient neonatal diabetes mellitus.</strong>
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Hum. Genet. 110: 139-144, 2002.
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[PubMed: 11935319]
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[Full Text: https://doi.org/10.1007/s00439-001-0671-5]
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Contributors:
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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 : 11/8/2006<br>Victor A. McKusick - updated : 3/11/2002
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George E. Tiller : 12/10/2001
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carol : 03/04/2019<br>mgross : 11/28/2006<br>terry : 11/8/2006<br>mgross : 3/11/2002<br>cwells : 12/18/2001<br>alopez : 12/18/2001<br>cwells : 12/18/2001
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