2559 lines
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Entry
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- *603044 - PLAG1-LIKE ZINC FINGER 1; PLAGL1
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- OMIM
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<p>
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<span class="h4">*603044</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="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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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="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<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-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 id="mimExternalLinksFold" class="collapse in">
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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=ENSG00000118495;t=ENST00000674357" 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=5325" 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=603044" 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=ENSG00000118495;t=ENST00000674357" 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_001080951,NM_001080952,NM_001080953,NM_001080954,NM_001080955,NM_001080956,NM_001289037,NM_001289038,NM_001289039,NM_001289040,NM_001289041,NM_001289042,NM_001289043,NM_001289044,NM_001289045,NM_001289046,NM_001289047,NM_001289048,NM_001289049,NM_001317156,NM_001317157,NM_001317158,NM_001317159,NM_001317160,NM_001317161,NM_001317162,NM_006718" 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_001317162" 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=603044" 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=16010&isoform_id=16010_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/PLAGL1" 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/1658382,3513453,3660510,14275552,14275556,27894293,31873296,49902503,50833680,50833682,51476386,80475006,80478907,119568237,119568238,119568239,119568240,119568241,121483258,121483260,121483262,121483264,121483266,121483268,121483270,121483272,121483274,121483276,121483278,121483280,121483282,121483284,121483286,124381125,124381127,124381129,124381131,124381133,124381135,158523334,189054799,189069485,573459688,573459690,573459692,573459703,573459717,573459732,573459734,573459736,573459741,573459743,573459754,573459765,573459768,953514570,953514572,953514574,953514576,953514578,953514580,953514582,1252309685,1252309687,1252309689,1252309693,1252309695,1252309697,1252309699,1252309701,1252309703,1252309705,1252309707,1252309709,1252309711,1252309713,1252309715,1252309717" 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/Q9UM63" 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=5325" 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=ENSG00000118495;t=ENST00000674357" 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=PLAGL1" 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=PLAGL1" 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+5325" 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/PLAGL1" 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:5325" 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/5325" 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=ENST00000674357.1&hgg_start=143940300&hgg_end=144064599&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 style="display: table-cell;">Clinical Resources</div>
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:9046" 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://medlineplus.gov/genetics/gene/plagl1" 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=603044[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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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=603044[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/ENSG00000118495" 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=PLAGL1" 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=PLAGL1" 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=PLAGL1&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/PA33379" 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 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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<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 style="display: table-cell;">Animal Models</div>
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</a>
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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:9046" 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:1100874" 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/PLAGL1#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:1100874" 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/5325/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=5325" 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 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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<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><a href="https://reactome.org/content/query?q=PLAGL1&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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<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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<a id="title" class="mim-anchor"></a>
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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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603044
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</span>
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</span>
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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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PLAG1-LIKE ZINC FINGER 1; PLAGL1
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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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<a id="alternativeTitles" class="mim-anchor"></a>
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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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<h4>
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<span class="mim-font">
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PLEOMORPHIC ADENOMA GENE-LIKE 1<br />
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ZAC TUMOR SUPPRESSOR GENE; ZAC<br />
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ZAC1<br />
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LOST ON TRANSFORMATION 1; LOT1
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</span>
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</h4>
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<div>
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<br />
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</div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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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=PLAGL1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">PLAGL1</a></em></strong>
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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/6/920?start=-3&limit=10&highlight=920">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=chr6:143940300-144064599&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'})">6:143,940,300-144,064,599</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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<div>
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<br />
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<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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</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">
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<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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</h4>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>PLAGL1 encodes a zinc finger DNA-binding transcription factor that can regulate apoptosis and cell cycle arrest concurrently (summary by <a href="#11" class="mim-tip-reference" title="Valleley, E. M., Cordery, S. F., Bonthron, D. T. <strong>Tissue-specific imprinting of the ZAC/PLAGL1 tumour suppressor gene results from variable utilization of monoallelic and biallelic promoters.</strong> Hum. Molec. Genet. 16: 972-981, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17341487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17341487</a>] [<a href="https://doi.org/10.1093/hmg/ddm041" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17341487">Valleley et al., 2007</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17341487" 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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<br />
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</div>
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<div>
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<a id="cloning" class="mim-anchor"></a>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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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 id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#8" class="mim-tip-reference" title="Spengler, D., Villalba, M., Hoffmann, A., Pantaloni, C., Houssami, S., Bockaert, J., Journot, L. <strong>Regulation of apoptosis and cell cycle arrest by Zac1, a novel zinc finger protein expressed in the pituitary gland and the brain.</strong> EMBO J. 16: 2814-2825, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9184226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9184226</a>] [<a href="https://doi.org/10.1093/emboj/16.10.2814" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9184226">Spengler et al. (1997)</a> isolated mouse Plagl1, which they designated Zac. The deduced 667-amino acid protein contains 7 C2H2 zinc fingers in its N-terminal half. Northern blot analysis of several mouse tissues detected highest Zac1 expression in pituitary. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9184226" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Abdollahi, A., Godwin, A. K., Miller, P. D., Getts, L. A., Schultz, D. C., Taguchi, T., Testa, J. R., Hamilton, T. C. <strong>Identification of a gene containing zinc-finger motifs based on lost expression in malignantly transformed rat ovarian surface epithelial cells.</strong> Cancer Res. 57: 2029-2034, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9158001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9158001</a>]" pmid="9158001">Abdollahi et al. (1997)</a> cloned Plagl1 through its loss of expression in a rat model of epithelial ovarian cancer and named it Lot1 for 'lost on transformation.' By searching databases for sequences similar to rat Lot1, followed by clone walking within a human fetal brain cDNA library, <a href="#1" class="mim-tip-reference" title="Abdollahi, A., Godwin, A. K., Miller, P. D., Getts, L. A., Schultz, D. C., Taguchi, T., Testa, J. R., Hamilton, T. C. <strong>Identification of a gene containing zinc-finger motifs based on lost expression in malignantly transformed rat ovarian surface epithelial cells.</strong> Cancer Res. 57: 2029-2034, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9158001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9158001</a>]" pmid="9158001">Abdollahi et al. (1997)</a> obtained full-length human LOT1. The deduced 464-amino acid protein has a calculate molecular mass of 51 kD. In addition to 7 N-terminal zinc fingers, LOT1 contains proline- and glutamine-rich regions in its C-terminal half. Rat and human LOT1 share 67.7% amino acid identity overall, with 85.5% identity in the N-terminal zinc finger region. Northern blot analysis detected multiple LOT1 transcripts in all human tissues examined, including spleen, thymus, prostate, testis, ovary, intestine, colon, and leukocytes. Highest expression was detected in ovary. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9158001" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By RT-PCR of normal human leukocytes, <a href="#11" class="mim-tip-reference" title="Valleley, E. M., Cordery, S. F., Bonthron, D. T. <strong>Tissue-specific imprinting of the ZAC/PLAGL1 tumour suppressor gene results from variable utilization of monoallelic and biallelic promoters.</strong> Hum. Molec. Genet. 16: 972-981, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17341487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17341487</a>] [<a href="https://doi.org/10.1093/hmg/ddm041" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17341487">Valleley et al. (2007)</a> detected 15 alternatively spliced ZAC transcripts that differed in the promoter used, the 5-prime noncoding exons included, and the presence or absence of protein-coding exon 7. The last protein-coding exon, exon 8, was detected in all transcripts. Transcripts lacking exon 7 encode a short ZAC isoform with only 5 zinc fingers. The short isoform was more frequently encoded by transcripts initiated at the upstream promoter region, P2, and the longer isoform was more frequently encoded by transcripts initiated at the downstream promoter, P1. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17341487" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#8" class="mim-tip-reference" title="Spengler, D., Villalba, M., Hoffmann, A., Pantaloni, C., Houssami, S., Bockaert, J., Journot, L. <strong>Regulation of apoptosis and cell cycle arrest by Zac1, a novel zinc finger protein expressed in the pituitary gland and the brain.</strong> EMBO J. 16: 2814-2825, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9184226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9184226</a>] [<a href="https://doi.org/10.1093/emboj/16.10.2814" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9184226">Spengler et al. (1997)</a> found that mouse Zac inhibited tumor cell proliferation in vitro and in vivo in nude mice. They showed that these antiproliferative properties ensued from the regulation of 2 pathways critical to the activity of p53 (<a href="/entry/191170">191170</a>), i.e., cell cycle progression and apoptosis. Thus, mouse Zac was the first gene unrelated to p53 that was found to regulate these 2 fundamental genetic programs. The authors hypothesized that Zac also could share with p53 its tumor suppressor activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9184226" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#12" class="mim-tip-reference" title="Varrault, A., Ciani, E., Apiou, F., Bilanges, B., Hoffmann, A., Pantaloni, C., Bockaert, J., Spengler, D., Journot, L. <strong>hZAC encodes a zinc finger protein with antiproliferative properties and maps to a chromosomal region frequently lost in cancer.</strong> Proc. Nat. Acad. Sci. 95: 8835-8840, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9671765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9671765</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9671765[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/10.1073/pnas.95.15.8835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9671765">Varrault et al. (1998)</a> showed that human ZAC had transactivation and DNA-binding activities. Furthermore, like its mouse counterpart and p53, ZAC inhibited tumor cell proliferation through induction of both apoptosis and cell cycle arrest. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9671765" 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="#5" class="mim-tip-reference" title="Bilanges, B., Varrault, A., Mazumdar, A., Pantaloni, C., Hoffmann, A., Bockaert, J., Spengler, D., Journot, L. <strong>Alternative splicing of the imprinted candidate tumour suppressor gene ZAC regulates its antiproliferative and DNA binding activities.</strong> Oncogene 20: 1246-1253, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11313869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11313869</a>] [<a href="https://doi.org/10.1038/sj.onc.1204237" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11313869">Bilanges et al. (2001)</a> found that the long and short ZAC isoforms showed the same antiproliferative activity. However, the long isoform was more efficient at inducing apoptosis, whereas the short isoform had a greater ability to induce cell cycle arrest. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11313869" 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="Abdollahi, A., Roberts, D., Godwin, A. K., Schultz, D. C., Sonoda, G., Testa, J. R., Hamilton, T. C. <strong>Identification of a zinc-finger gene at 6q25: a chromosomal region implicated in development of many solid tumors.</strong> Oncogene 14: 1973-1979, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9150364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9150364</a>] [<a href="https://doi.org/10.1038/sj.onc.1201034" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9150364">Abdollahi et al. (1997)</a> showed that LOT1 expression was lost in some human ovarian cancer cell lines. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9150364" 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><strong><em>Transient Neonatal Diabetes Mellitus 1</em></strong></p><p>
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<a href="#6" class="mim-tip-reference" title="Kamiya, M., Judson, H., Okazaki, Y., Kusakabe, M., Muramatsu, M., Takada, S., Takagi, N., Arima, T., Wake, N., Kamimura, K., Satomura, K., Hermann, R., Bonthron, D. T., Hayashizaki, Y. <strong>The cell cycle control gene ZAC/PLAGL1 is imprinted: a strong candidate gene for transient neonatal diabetes.</strong> Hum. Molec. Genet. 9: 453-460, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10655556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10655556</a>] [<a href="https://doi.org/10.1093/hmg/9.3.453" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10655556">Kamiya et al. (2000)</a> described a screen for novel imprinted human genes, and in this way identified the ZAC/PLAGL1 gene as a strong candidate for transient neonatal diabetes mellitus (TNDM1; <a href="/entry/601410">601410</a>). To screen for imprinted genes, they compared parthenogenetic DNA from a chimeric patient FD and androgenetic DNA from hydatidiform mole, using restriction landmark genome scanning for methylation. This resulted in identification of 2 novel imprinted loci, one of which (NV149) mapped to the TNDM region of 6q24. From analysis of the corresponding genomic region, it was determined that NV149 lies approximately 60 kb upstream of the ZAC/PLAGL1 gene. RT-PCR analysis was used to confirm that the ZAC/PLAGL1 gene is expressed only from the paternal allele in a variety of tissues. TNDM is known to result from upregulation of a paternally expressed gene on 6q24. <a href="#6" class="mim-tip-reference" title="Kamiya, M., Judson, H., Okazaki, Y., Kusakabe, M., Muramatsu, M., Takada, S., Takagi, N., Arima, T., Wake, N., Kamimura, K., Satomura, K., Hermann, R., Bonthron, D. T., Hayashizaki, Y. <strong>The cell cycle control gene ZAC/PLAGL1 is imprinted: a strong candidate gene for transient neonatal diabetes.</strong> Hum. Molec. Genet. 9: 453-460, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10655556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10655556</a>] [<a href="https://doi.org/10.1093/hmg/9.3.453" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10655556">Kamiya et al. (2000)</a> pointed to the paternal expression, map position, and known biologic properties of ZAC/PLAGL1 as making it highly likely that it is the TNDM gene. In particular, ZAC/PLAGL1 is a transcriptional regulator of the type-1 receptor for pituitary adenylate cyclase-activating polypeptide (<a href="/entry/102981">102981</a>), which is the most potent known insulin secretagogue and an important mediator of autocrine control of insulin secretion in the pancreatic islet. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10655556" 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., Drewell, R. A., 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 (<a href="/entry/606546">606546</a>) 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 studied with a normal karyotype, loss of methylation at 8 CpG sites within the region was demonstrated. The authors proposed that this ICR 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="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><p>Temple et al. (<a href="#10" class="mim-tip-reference" title="Temple, I. K., James, R. S., Crolla, J. A., Sitch, F. L., Jacobs, P. A., Howell, W. M., Betts, P., Baum, J. D., Shield, J. P. H. <strong>An imprinted gene(s) for diabetes? (Letter)</strong> Nature Genet. 9: 110-112, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7719335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7719335</a>] [<a href="https://doi.org/10.1038/ng0295-110" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7719335">1995</a>, <a href="#9" class="mim-tip-reference" title="Temple, I. K., Gardner, R. J., Robinson, D. O., Kibirige, M. S., Ferguson, A. W., Baum, J. D., Barber, J. C. K., James, R. S., Shield, J. P. H. <strong>Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23.</strong> Hum. Molec. Genet. 5: 1117-1124, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8842729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8842729</a>] [<a href="https://doi.org/10.1093/hmg/5.8.1117" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8842729">1996</a>) showed that 2 genetic abnormalities of chromosome 6, paternal uniparental isodisomy of chromosome 6 and paternally inherited duplications of chromosome 6q, are associated with TNDM. They hypothesized that TNDM could result from inappropriate overexpression of a paternally expressed imprinted gene on 6q24. <a href="#7" 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/?term=11935319+7719335+8842729" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By meta-analysis of microarray data, <a href="#13" class="mim-tip-reference" title="Varrault, A., Gueydan, C., Delalbre, A., Bellmann, A., Houssami, S., Aknin, C., Severac, D., Chotard, L., Kahli, M., Le Digarcher, A., Pavlidis, P., Journot, L. <strong>Zac1 regulates an imprinted gene network critically involved in the control of embryonic growth.</strong> Dev. Cell 11: 711-722, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17084362/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17084362</a>] [<a href="https://doi.org/10.1016/j.devcel.2006.09.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17084362">Varrault et al. (2006)</a> identified Zac1 as a member of a network of coregulated imprinted genes that control mouse embryonic growth. Zac1 reexpression in a mouse neuroblastoma cell line lacking Zac1 led to expression of several of these imprinted genes, including Igf2 (<a href="/entry/147470">147470</a>), H19 (<a href="/entry/103280">103280</a>), Cdkn1c (<a href="/entry/600856">600856</a>), and Dlk1 (<a href="/entry/176290">176290</a>), and Zac1 directly regulated the Igf2/H19 locus through binding to a shared enhancer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17084362" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Valleley, E. M., Cordery, S. F., Bonthron, D. T. <strong>Tissue-specific imprinting of the ZAC/PLAGL1 tumour suppressor gene results from variable utilization of monoallelic and biallelic promoters.</strong> Hum. Molec. Genet. 16: 972-981, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17341487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17341487</a>] [<a href="https://doi.org/10.1093/hmg/ddm041" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17341487">Valleley et al. (2007)</a> identified an alternative promoter region, P2, in the ZAC gene upstream of the differentially methylated promoter, P1. They showed that the CpG island of P2 was unmethylated and biallelically expressed. Quantitative real-time PCR detected variable expression of transcripts derived from both promoters in all human tissues examined. Transcripts containing imprinted P1 predominated in most tissues, while transcripts containing the biallelically expressed P2 predominated in leukocytes. Liver and spleen expressed transcripts from both promoters relatively equally. In all tissues examined, expression from P1 was monoallelic and expression from P2 was biallelic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17341487" 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="#11" class="mim-tip-reference" title="Valleley, E. M., Cordery, S. F., Bonthron, D. T. <strong>Tissue-specific imprinting of the ZAC/PLAGL1 tumour suppressor gene results from variable utilization of monoallelic and biallelic promoters.</strong> Hum. Molec. Genet. 16: 972-981, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17341487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17341487</a>] [<a href="https://doi.org/10.1093/hmg/ddm041" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17341487">Valleley et al. (2007)</a> determined that the PLAGL1 gene contains at least 8 exons and spans 125 kb. There are 2 alternative promoter regions separated by about 55 kb, and both lie within CpG islands. Exons 1 through 6 are untranslated and are subject to a complex pattern of alternative splicing. Coding exon 7 is also alternatively spliced. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17341487" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By fluorescence in situ hybridization, <a href="#12" class="mim-tip-reference" title="Varrault, A., Ciani, E., Apiou, F., Bilanges, B., Hoffmann, A., Pantaloni, C., Bockaert, J., Spengler, D., Journot, L. <strong>hZAC encodes a zinc finger protein with antiproliferative properties and maps to a chromosomal region frequently lost in cancer.</strong> Proc. Nat. Acad. Sci. 95: 8835-8840, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9671765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9671765</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9671765[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/10.1073/pnas.95.15.8835" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9671765">Varrault et al. (1998)</a> mapped the human ZAC gene to chromosome 6q24-q25, a region that shows allelic loss in breast and ovary cancers, melanomas, astrocytomas, and renal cell carcinomas, and is thus thought to harbor at least 1 tumor suppressor gene. The mouse gene maps to chromosome 10A2, a region syntenic to human 6q25. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9671765" 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="#13" class="mim-tip-reference" title="Varrault, A., Gueydan, C., Delalbre, A., Bellmann, A., Houssami, S., Aknin, C., Severac, D., Chotard, L., Kahli, M., Le Digarcher, A., Pavlidis, P., Journot, L. <strong>Zac1 regulates an imprinted gene network critically involved in the control of embryonic growth.</strong> Dev. Cell 11: 711-722, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17084362/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17084362</a>] [<a href="https://doi.org/10.1016/j.devcel.2006.09.003" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17084362">Varrault et al. (2006)</a> found that Zac1 knockdown in mice resulted in intrauterine growth restriction, altered bone formation, and neonatal lethality. As expected for a maternally repressed gene, Zac1 +/-(maternal) pups were indistinguishable from wildtype mice, whereas Zac +/-(paternal) pups displayed the weight reduction observed in Zac1 -/- pups. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17084362" 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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Abdollahi, A., Godwin, A. K., Miller, P. D., Getts, L. A., Schultz, D. C., Taguchi, T., Testa, J. R., Hamilton, T. C.
|
|
<strong>Identification of a gene containing zinc-finger motifs based on lost expression in malignantly transformed rat ovarian surface epithelial cells.</strong>
|
|
Cancer Res. 57: 2029-2034, 1997.
|
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|
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9158001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9158001</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9158001" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Abdollahi, A., Roberts, D., Godwin, A. K., Schultz, D. C., Sonoda, G., Testa, J. R., Hamilton, T. C.
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<strong>Identification of a zinc-finger gene at 6q25: a chromosomal region implicated in development of many solid tumors.</strong>
|
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Oncogene 14: 1973-1979, 1997.
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9150364/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9150364</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9150364" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.onc.1201034" target="_blank">Full Text</a>]
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Arima, T., Drewell, R. A., 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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<a id="Arima2006" class="mim-anchor"></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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<a id="Bilanges2001" class="mim-anchor"></a>
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Bilanges, B., Varrault, A., Mazumdar, A., Pantaloni, C., Hoffmann, A., Bockaert, J., Spengler, D., Journot, L.
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<strong>Alternative splicing of the imprinted candidate tumour suppressor gene ZAC regulates its antiproliferative and DNA binding activities.</strong>
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Oncogene 20: 1246-1253, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11313869/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11313869</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11313869" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.onc.1204237" target="_blank">Full Text</a>]
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<a id="Kamiya2000" class="mim-anchor"></a>
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Kamiya, M., Judson, H., Okazaki, Y., Kusakabe, M., Muramatsu, M., Takada, S., Takagi, N., Arima, T., Wake, N., Kamimura, K., Satomura, K., Hermann, R., Bonthron, D. T., Hayashizaki, Y.
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<strong>The cell cycle control gene ZAC/PLAGL1 is imprinted: a strong candidate gene for transient neonatal diabetes.</strong>
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Hum. Molec. Genet. 9: 453-460, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10655556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10655556</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10655556" 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/9.3.453" target="_blank">Full Text</a>]
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<a id="Mackay2002" class="mim-anchor"></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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<a id="Spengler1997" class="mim-anchor"></a>
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Spengler, D., Villalba, M., Hoffmann, A., Pantaloni, C., Houssami, S., Bockaert, J., Journot, L.
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<strong>Regulation of apoptosis and cell cycle arrest by Zac1, a novel zinc finger protein expressed in the pituitary gland and the brain.</strong>
|
|
EMBO J. 16: 2814-2825, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9184226/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9184226</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9184226" 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/emboj/16.10.2814" target="_blank">Full Text</a>]
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<a id="Temple1996" class="mim-anchor"></a>
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Temple, I. K., Gardner, R. J., Robinson, D. O., Kibirige, M. S., Ferguson, A. W., Baum, J. D., Barber, J. C. K., James, R. S., Shield, J. P. H.
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<strong>Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23.</strong>
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Hum. Molec. Genet. 5: 1117-1124, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8842729/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8842729</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8842729" 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/5.8.1117" target="_blank">Full Text</a>]
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<a id="Temple1995" class="mim-anchor"></a>
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Temple, I. K., James, R. S., Crolla, J. A., Sitch, F. L., Jacobs, P. A., Howell, W. M., Betts, P., Baum, J. D., Shield, J. P. H.
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<strong>An imprinted gene(s) for diabetes? (Letter)</strong>
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Nature Genet. 9: 110-112, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7719335/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7719335</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7719335" 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/ng0295-110" target="_blank">Full Text</a>]
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Valleley, E. M., Cordery, S. F., Bonthron, D. T.
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<strong>Tissue-specific imprinting of the ZAC/PLAGL1 tumour suppressor gene results from variable utilization of monoallelic and biallelic promoters.</strong>
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Hum. Molec. Genet. 16: 972-981, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17341487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17341487</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17341487" 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/ddm041" target="_blank">Full Text</a>]
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<a id="Varrault1998" class="mim-anchor"></a>
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Varrault, A., Ciani, E., Apiou, F., Bilanges, B., Hoffmann, A., Pantaloni, C., Bockaert, J., Spengler, D., Journot, L.
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<strong>hZAC encodes a zinc finger protein with antiproliferative properties and maps to a chromosomal region frequently lost in cancer.</strong>
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Proc. Nat. Acad. Sci. 95: 8835-8840, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9671765/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9671765</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=9671765[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=9671765" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.95.15.8835" target="_blank">Full Text</a>]
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<a id="Varrault2006" class="mim-anchor"></a>
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Varrault, A., Gueydan, C., Delalbre, A., Bellmann, A., Houssami, S., Aknin, C., Severac, D., Chotard, L., Kahli, M., Le Digarcher, A., Pavlidis, P., Journot, L.
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<strong>Zac1 regulates an imprinted gene network critically involved in the control of embryonic growth.</strong>
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Dev. Cell 11: 711-722, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17084362/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17084362</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17084362" 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.2006.09.003" 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 : 3/18/2010
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Victor A. McKusick - updated : 2/21/2007<br>Patricia A. Hartz - updated : 1/3/2007<br>Patricia A. Hartz - updated : 11/8/2006<br>Victor A. McKusick - updated : 3/4/2002<br>George E. Tiller - updated : 12/10/2001<br>Victor A. McKusick - updated : 3/7/2000
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Creation Date:
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Victor A. McKusick : 9/17/1998
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alopez : 11/21/2024
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alopez : 11/21/2024<br>carol : 03/04/2021<br>carol : 03/04/2019<br>carol : 09/23/2016<br>mgross : 03/19/2010<br>terry : 3/18/2010<br>terry : 2/21/2007<br>mgross : 1/3/2007<br>mgross : 11/28/2006<br>terry : 11/8/2006<br>ckniffin : 3/23/2004<br>terry : 3/11/2002<br>mgross : 3/11/2002<br>terry : 3/4/2002<br>cwells : 12/18/2001<br>cwells : 12/10/2001<br>alopez : 7/2/2001<br>carol : 4/24/2000<br>mcapotos : 4/3/2000<br>mcapotos : 3/22/2000<br>terry : 3/7/2000<br>psherman : 12/21/1998<br>carol : 9/17/1998<br>carol : 9/17/1998
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<strong>*</strong> 603044
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PLAG1-LIKE ZINC FINGER 1; PLAGL1
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PLEOMORPHIC ADENOMA GENE-LIKE 1<br />
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ZAC TUMOR SUPPRESSOR GENE; ZAC<br />
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ZAC1<br />
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LOST ON TRANSFORMATION 1; LOT1
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<strong><em>HGNC Approved Gene Symbol: PLAGL1</em></strong>
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Cytogenetic location: 6q24.2
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<span class="small">(from NCBI)</span>
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<strong>TEXT</strong>
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<p>PLAGL1 encodes a zinc finger DNA-binding transcription factor that can regulate apoptosis and cell cycle arrest concurrently (summary by Valleley et al., 2007). </p>
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<strong>Cloning and Expression</strong>
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<p>Spengler et al. (1997) isolated mouse Plagl1, which they designated Zac. The deduced 667-amino acid protein contains 7 C2H2 zinc fingers in its N-terminal half. Northern blot analysis of several mouse tissues detected highest Zac1 expression in pituitary. </p><p>Abdollahi et al. (1997) cloned Plagl1 through its loss of expression in a rat model of epithelial ovarian cancer and named it Lot1 for 'lost on transformation.' By searching databases for sequences similar to rat Lot1, followed by clone walking within a human fetal brain cDNA library, Abdollahi et al. (1997) obtained full-length human LOT1. The deduced 464-amino acid protein has a calculate molecular mass of 51 kD. In addition to 7 N-terminal zinc fingers, LOT1 contains proline- and glutamine-rich regions in its C-terminal half. Rat and human LOT1 share 67.7% amino acid identity overall, with 85.5% identity in the N-terminal zinc finger region. Northern blot analysis detected multiple LOT1 transcripts in all human tissues examined, including spleen, thymus, prostate, testis, ovary, intestine, colon, and leukocytes. Highest expression was detected in ovary. </p><p>By RT-PCR of normal human leukocytes, Valleley et al. (2007) detected 15 alternatively spliced ZAC transcripts that differed in the promoter used, the 5-prime noncoding exons included, and the presence or absence of protein-coding exon 7. The last protein-coding exon, exon 8, was detected in all transcripts. Transcripts lacking exon 7 encode a short ZAC isoform with only 5 zinc fingers. The short isoform was more frequently encoded by transcripts initiated at the upstream promoter region, P2, and the longer isoform was more frequently encoded by transcripts initiated at the downstream promoter, P1. </p>
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<strong>Gene Function</strong>
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<p>Spengler et al. (1997) found that mouse Zac inhibited tumor cell proliferation in vitro and in vivo in nude mice. They showed that these antiproliferative properties ensued from the regulation of 2 pathways critical to the activity of p53 (191170), i.e., cell cycle progression and apoptosis. Thus, mouse Zac was the first gene unrelated to p53 that was found to regulate these 2 fundamental genetic programs. The authors hypothesized that Zac also could share with p53 its tumor suppressor activity. </p><p>Varrault et al. (1998) showed that human ZAC had transactivation and DNA-binding activities. Furthermore, like its mouse counterpart and p53, ZAC inhibited tumor cell proliferation through induction of both apoptosis and cell cycle arrest. </p><p>Bilanges et al. (2001) found that the long and short ZAC isoforms showed the same antiproliferative activity. However, the long isoform was more efficient at inducing apoptosis, whereas the short isoform had a greater ability to induce cell cycle arrest. </p><p>Abdollahi et al. (1997) showed that LOT1 expression was lost in some human ovarian cancer cell lines. </p><p><strong><em>Transient Neonatal Diabetes Mellitus 1</em></strong></p><p>
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Kamiya et al. (2000) described a screen for novel imprinted human genes, and in this way identified the ZAC/PLAGL1 gene as a strong candidate for transient neonatal diabetes mellitus (TNDM1; 601410). To screen for imprinted genes, they compared parthenogenetic DNA from a chimeric patient FD and androgenetic DNA from hydatidiform mole, using restriction landmark genome scanning for methylation. This resulted in identification of 2 novel imprinted loci, one of which (NV149) mapped to the TNDM region of 6q24. From analysis of the corresponding genomic region, it was determined that NV149 lies approximately 60 kb upstream of the ZAC/PLAGL1 gene. RT-PCR analysis was used to confirm that the ZAC/PLAGL1 gene is expressed only from the paternal allele in a variety of tissues. TNDM is known to result from upregulation of a paternally expressed gene on 6q24. Kamiya et al. (2000) pointed to the paternal expression, map position, and known biologic properties of ZAC/PLAGL1 as making it highly likely that it is the TNDM gene. In particular, ZAC/PLAGL1 is a transcriptional regulator of the type-1 receptor for pituitary adenylate cyclase-activating polypeptide (102981), which is the most potent known insulin secretagogue and an important mediator of autocrine control of insulin secretion in the pancreatic islet. </p><p>Arima et al. (2001) showed that the differentially methylated CpG island that partially overlaps Zac1 and Hymai (606546) 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 studied with a normal karyotype, loss of methylation at 8 CpG sites within the region was demonstrated. The authors proposed that this ICR 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>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><p>Temple et al. (1995, 1996) showed that 2 genetic abnormalities of chromosome 6, paternal uniparental isodisomy of chromosome 6 and paternally inherited duplications of chromosome 6q, are associated with TNDM. They hypothesized that TNDM could result from inappropriate overexpression of a paternally expressed imprinted gene on 6q24. Mackay et al. (2002) demonstrated imprinted expression of the ZAC and HYMAI genes in cases of TNDM. </p><p>By meta-analysis of microarray data, Varrault et al. (2006) identified Zac1 as a member of a network of coregulated imprinted genes that control mouse embryonic growth. Zac1 reexpression in a mouse neuroblastoma cell line lacking Zac1 led to expression of several of these imprinted genes, including Igf2 (147470), H19 (103280), Cdkn1c (600856), and Dlk1 (176290), and Zac1 directly regulated the Igf2/H19 locus through binding to a shared enhancer. </p><p>Valleley et al. (2007) identified an alternative promoter region, P2, in the ZAC gene upstream of the differentially methylated promoter, P1. They showed that the CpG island of P2 was unmethylated and biallelically expressed. Quantitative real-time PCR detected variable expression of transcripts derived from both promoters in all human tissues examined. Transcripts containing imprinted P1 predominated in most tissues, while transcripts containing the biallelically expressed P2 predominated in leukocytes. Liver and spleen expressed transcripts from both promoters relatively equally. In all tissues examined, expression from P1 was monoallelic and expression from P2 was biallelic. </p>
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<strong>Gene Structure</strong>
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<p>Valleley et al. (2007) determined that the PLAGL1 gene contains at least 8 exons and spans 125 kb. There are 2 alternative promoter regions separated by about 55 kb, and both lie within CpG islands. Exons 1 through 6 are untranslated and are subject to a complex pattern of alternative splicing. Coding exon 7 is also alternatively spliced. </p>
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<strong>Mapping</strong>
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<p>By fluorescence in situ hybridization, Varrault et al. (1998) mapped the human ZAC gene to chromosome 6q24-q25, a region that shows allelic loss in breast and ovary cancers, melanomas, astrocytomas, and renal cell carcinomas, and is thus thought to harbor at least 1 tumor suppressor gene. The mouse gene maps to chromosome 10A2, a region syntenic to human 6q25. </p>
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<p>Varrault et al. (2006) found that Zac1 knockdown in mice resulted in intrauterine growth restriction, altered bone formation, and neonatal lethality. As expected for a maternally repressed gene, Zac1 +/-(maternal) pups were indistinguishable from wildtype mice, whereas Zac +/-(paternal) pups displayed the weight reduction observed in Zac1 -/- pups. </p>
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<strong>REFERENCES</strong>
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Abdollahi, A., Godwin, A. K., Miller, P. D., Getts, L. A., Schultz, D. C., Taguchi, T., Testa, J. R., Hamilton, T. C.
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<strong>Identification of a gene containing zinc-finger motifs based on lost expression in malignantly transformed rat ovarian surface epithelial cells.</strong>
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Cancer Res. 57: 2029-2034, 1997.
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[PubMed: 9158001]
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Abdollahi, A., Roberts, D., Godwin, A. K., Schultz, D. C., Sonoda, G., Testa, J. R., Hamilton, T. C.
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<strong>Identification of a zinc-finger gene at 6q25: a chromosomal region implicated in development of many solid tumors.</strong>
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Oncogene 14: 1973-1979, 1997.
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[PubMed: 9150364]
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[Full Text: https://doi.org/10.1038/sj.onc.1201034]
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Arima, T., Drewell, R. A., 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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</p>
|
|
</li>
|
|
|
|
<li>
|
|
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|
|
Bilanges, B., Varrault, A., Mazumdar, A., Pantaloni, C., Hoffmann, A., Bockaert, J., Spengler, D., Journot, L.
|
|
<strong>Alternative splicing of the imprinted candidate tumour suppressor gene ZAC regulates its antiproliferative and DNA binding activities.</strong>
|
|
Oncogene 20: 1246-1253, 2001.
|
|
|
|
|
|
[PubMed: 11313869]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/sj.onc.1204237]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kamiya, M., Judson, H., Okazaki, Y., Kusakabe, M., Muramatsu, M., Takada, S., Takagi, N., Arima, T., Wake, N., Kamimura, K., Satomura, K., Hermann, R., Bonthron, D. T., Hayashizaki, Y.
|
|
<strong>The cell cycle control gene ZAC/PLAGL1 is imprinted: a strong candidate gene for transient neonatal diabetes.</strong>
|
|
Hum. Molec. Genet. 9: 453-460, 2000.
|
|
|
|
|
|
[PubMed: 10655556]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/9.3.453]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
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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.
|
|
<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: 11935319]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s00439-001-0671-5]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Spengler, D., Villalba, M., Hoffmann, A., Pantaloni, C., Houssami, S., Bockaert, J., Journot, L.
|
|
<strong>Regulation of apoptosis and cell cycle arrest by Zac1, a novel zinc finger protein expressed in the pituitary gland and the brain.</strong>
|
|
EMBO J. 16: 2814-2825, 1997.
|
|
|
|
|
|
[PubMed: 9184226]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/emboj/16.10.2814]
|
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|
|
|
|
</p>
|
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</li>
|
|
|
|
<li>
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Temple, I. K., Gardner, R. J., Robinson, D. O., Kibirige, M. S., Ferguson, A. W., Baum, J. D., Barber, J. C. K., James, R. S., Shield, J. P. H.
|
|
<strong>Further evidence for an imprinted gene for neonatal diabetes localised to chromosome 6q22-q23.</strong>
|
|
Hum. Molec. Genet. 5: 1117-1124, 1996.
|
|
|
|
|
|
[PubMed: 8842729]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/5.8.1117]
|
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|
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</p>
|
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</li>
|
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|
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<li>
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Temple, I. K., James, R. S., Crolla, J. A., Sitch, F. L., Jacobs, P. A., Howell, W. M., Betts, P., Baum, J. D., Shield, J. P. H.
|
|
<strong>An imprinted gene(s) for diabetes? (Letter)</strong>
|
|
Nature Genet. 9: 110-112, 1995.
|
|
|
|
|
|
[PubMed: 7719335]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0295-110]
|
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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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Valleley, E. M., Cordery, S. F., Bonthron, D. T.
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<strong>Tissue-specific imprinting of the ZAC/PLAGL1 tumour suppressor gene results from variable utilization of monoallelic and biallelic promoters.</strong>
|
|
Hum. Molec. Genet. 16: 972-981, 2007.
|
|
|
|
|
|
[PubMed: 17341487]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/hmg/ddm041]
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</p>
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</li>
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<li>
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Varrault, A., Ciani, E., Apiou, F., Bilanges, B., Hoffmann, A., Pantaloni, C., Bockaert, J., Spengler, D., Journot, L.
|
|
<strong>hZAC encodes a zinc finger protein with antiproliferative properties and maps to a chromosomal region frequently lost in cancer.</strong>
|
|
Proc. Nat. Acad. Sci. 95: 8835-8840, 1998.
|
|
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|
|
|
[PubMed: 9671765]
|
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[Full Text: https://doi.org/10.1073/pnas.95.15.8835]
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</p>
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</li>
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Varrault, A., Gueydan, C., Delalbre, A., Bellmann, A., Houssami, S., Aknin, C., Severac, D., Chotard, L., Kahli, M., Le Digarcher, A., Pavlidis, P., Journot, L.
|
|
<strong>Zac1 regulates an imprinted gene network critically involved in the control of embryonic growth.</strong>
|
|
Dev. Cell 11: 711-722, 2006.
|
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[PubMed: 17084362]
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[Full Text: https://doi.org/10.1016/j.devcel.2006.09.003]
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Patricia A. Hartz - updated : 3/18/2010<br>Victor A. McKusick - updated : 2/21/2007<br>Patricia A. Hartz - updated : 1/3/2007<br>Patricia A. Hartz - updated : 11/8/2006<br>Victor A. McKusick - updated : 3/4/2002<br>George E. Tiller - updated : 12/10/2001<br>Victor A. McKusick - updated : 3/7/2000
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Victor A. McKusick : 9/17/1998
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alopez : 11/21/2024<br>alopez : 11/21/2024<br>carol : 03/04/2021<br>carol : 03/04/2019<br>carol : 09/23/2016<br>mgross : 03/19/2010<br>terry : 3/18/2010<br>terry : 2/21/2007<br>mgross : 1/3/2007<br>mgross : 11/28/2006<br>terry : 11/8/2006<br>ckniffin : 3/23/2004<br>terry : 3/11/2002<br>mgross : 3/11/2002<br>terry : 3/4/2002<br>cwells : 12/18/2001<br>cwells : 12/10/2001<br>alopez : 7/2/2001<br>carol : 4/24/2000<br>mcapotos : 4/3/2000<br>mcapotos : 3/22/2000<br>terry : 3/7/2000<br>psherman : 12/21/1998<br>carol : 9/17/1998<br>carol : 9/17/1998
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