1877 lines
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Entry
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- *601491 - IMPRINTED IN PRADER-WILLI SYNDROME; IPW
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- OMIM
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<p>
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<span class="h4">*601491</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div style="display: table-cell;">External Links</div>
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</a>
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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<div><a href="https://www.ncbi.nlm.nih.gov/genome/gdv/browser/gene/?id=3653" 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=601491" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<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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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NR_023915" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=601491" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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<div><a href="https://www.proteinatlas.org/search/IPW" 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 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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</a>
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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=3653" 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.genecards.org/cgi-bin/carddisp.pl?gene=IPW" 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=IPW" 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+3653" 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/IPW" 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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<div><a href="https://www.ncbi.nlm.nih.gov/gene/3653" 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 class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</a>
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</span>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=601491[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=601491[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.gwascentral.org/search?q=IPW" 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=IPW&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/PA29909" 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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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:6109" 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="http://v1.marrvel.org/search/gene/IPW#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="https://www.ncbi.nlm.nih.gov/gene/3653/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=3653" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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<span 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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601491
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IMPRINTED IN PRADER-WILLI SYNDROME; IPW
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</h3>
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=IPW" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">IPW</a></em></strong>
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/15/29?start=-3&limit=10&highlight=29">15q11.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr15:25116545-25122476&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'})">15:25,116,545-25,122,476</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 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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<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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<strong>Cloning and Expression</strong>
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<p>By direct selection of expressed sequences from the Prader-Willi syndrome (PWS; <a href="/entry/176270">176270</a>) smallest region of deletion overlap on paternal chromosome 15q11-q13, <a href="#2" class="mim-tip-reference" title="Wevrick, R., Kerns, J. A., Francke, U. <strong>Identification of a novel paternally expressed gene in the Prader-Willi syndrome region.</strong> Hum. Molec. Genet. 3: 1877-1882, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7849716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7849716</a>] [<a href="https://doi.org/10.1093/hmg/3.10.1877" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7849716">Wevrick et al. (1994)</a> isolated a gene they showed to be expressed exclusively from the paternal allele in lymphoblasts and fibroblasts. The gene, designated 'imprinted gene in the Prader-Willi syndrome region' (IPW), is spliced and polyadenylated but encodes a polypeptide of only 45 amino acids. They showed that the transcript is cytoplasmic, as is the imprinted H19 gene (<a href="/entry/103280">103280</a>) on chromosome 11, and that it is widely expressed in adult and fetal tissues. By YAC contig analysis, <a href="#2" class="mim-tip-reference" title="Wevrick, R., Kerns, J. A., Francke, U. <strong>Identification of a novel paternally expressed gene in the Prader-Willi syndrome region.</strong> Hum. Molec. Genet. 3: 1877-1882, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7849716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7849716</a>] [<a href="https://doi.org/10.1093/hmg/3.10.1877" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7849716">Wevrick et al. (1994)</a> placed IPW about 150 kb distal to SNRPN (<a href="/entry/182279">182279</a>) and about 50 kb proximal to the breakpoint of a translocation defining the distal end of the PWS critical region and the proximal end of the Angelman syndrome (<a href="/entry/105830">105830</a>) region. The authors observed that PWS patients with 15q11-q13 deletions do not express IPW, whereas expression was normal in Angelman syndrome patients. <a href="#2" class="mim-tip-reference" title="Wevrick, R., Kerns, J. A., Francke, U. <strong>Identification of a novel paternally expressed gene in the Prader-Willi syndrome region.</strong> Hum. Molec. Genet. 3: 1877-1882, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7849716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7849716</a>] [<a href="https://doi.org/10.1093/hmg/3.10.1877" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7849716">Wevrick et al. (1994)</a> speculated that the IPW may function as an RNA (not unlike the XIST (<a href="/entry/314670">314670</a>) and H19 transcripts) and that it may play a role in the imprinting process. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7849716" 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="Wevrick, R., Francke, U. <strong>An imprinted mouse transcript homologous to the human imprinted in Prader-Willi syndrome (IPW) gene.</strong> Hum. Molec. Genet. 6: 325-332, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9063754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9063754</a>] [<a href="https://doi.org/10.1093/hmg/6.2.325" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9063754">Wevrick and Francke (1997)</a> cloned a mouse gene, designated Ipw, that has sequence similarity to a part of IPW and is located in the conserved homologous region of mouse chromosome 7. The Ipw cDNA also contains no long open reading frame, is alternatively spliced, and contains multiple copies of a 147 bp repeat, arranged in a head-to-tail orientation, that are interrupted by the insertion of an intracisternal A particle sequence. Ipw is expressed predominantly in brain. They could show that expression of Ipw in an interspecies F1 animal was limited to the paternal allele. Because of all of these striking similarities, <a href="#1" class="mim-tip-reference" title="Wevrick, R., Francke, U. <strong>An imprinted mouse transcript homologous to the human imprinted in Prader-Willi syndrome (IPW) gene.</strong> Hum. Molec. Genet. 6: 325-332, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9063754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9063754</a>] [<a href="https://doi.org/10.1093/hmg/6.2.325" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9063754">Wevrick and Francke (1997)</a> proposed that Ipw is the murine homolog of IPW, a prime candidate for involvement in the cause of Prader-Willi syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9063754" 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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<span id="mimCytogeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Cytogenetics</strong>
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<p>Balanced translocations affecting the paternal copy of 15q11-q13 are a rare cause of Prader-Willi syndrome (PWS) or PWS-like features. <a href="#3" class="mim-tip-reference" title="Wirth, J., Back, E., Huttenhofer, A., Nothwang, H.-G., Lich, C., Gross, S., Menzel, C,, Schinzel, A., Kioschis, P., Tommerup, N., Ropers, H.-H., Horsthemke, B., Buiting, K. <strong>A translocation breakpoint cluster disrupts the newly defined 3-prime end of the SNURF-SNRPN transcription unit on chromosome 15.</strong> Hum. Molec. Genet. 10: 201-210, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11159938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11159938</a>] [<a href="https://doi.org/10.1093/hmg/10.3.201" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11159938">Wirth et al. (2001)</a> reported a de novo balanced reciprocal translocation, t(X;15)(q28;q12), in a female patient with atypical PWS. The translocation breakpoints in this patient and 2 previously reported patients mapped 70 to 80 kb distal to the SNURF-SNRPN gene (<a href="/entry/182279">182279</a>) and defined a breakpoint cluster region. The breakpoints disrupted one of several previously unknown 3-prime exons of this gene. RT-PCR experiments demonstrated that sequences distal to the breakpoint, including the C/D box small nucleolar RNA (snoRNA) gene cluster HBII-85 (SNORD116-1; <a href="/entry/605436">605436</a>), as well as IPW and PAR1 (<a href="/entry/600161">600161</a>), were not expressed in the patient. The authors suggested that lack of expression of these sequences may contribute to the PWS phenotype. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11159938" 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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<span class="mim-font">
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<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>REFERENCES</strong>
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<a id="1" class="mim-anchor"></a>
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<a id="Wevrick1997" class="mim-anchor"></a>
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<p class="mim-text-font">
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Wevrick, R., Francke, U.
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<strong>An imprinted mouse transcript homologous to the human imprinted in Prader-Willi syndrome (IPW) gene.</strong>
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Hum. Molec. Genet. 6: 325-332, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9063754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9063754</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9063754" 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/6.2.325" target="_blank">Full Text</a>]
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<a id="Wevrick1994" class="mim-anchor"></a>
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<p class="mim-text-font">
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Wevrick, R., Kerns, J. A., Francke, U.
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<strong>Identification of a novel paternally expressed gene in the Prader-Willi syndrome region.</strong>
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Hum. Molec. Genet. 3: 1877-1882, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7849716/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7849716</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7849716" 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/3.10.1877" target="_blank">Full Text</a>]
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<a id="Wirth2001" class="mim-anchor"></a>
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Wirth, J., Back, E., Huttenhofer, A., Nothwang, H.-G., Lich, C., Gross, S., Menzel, C,, Schinzel, A., Kioschis, P., Tommerup, N., Ropers, H.-H., Horsthemke, B., Buiting, K.
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<strong>A translocation breakpoint cluster disrupts the newly defined 3-prime end of the SNURF-SNRPN transcription unit on chromosome 15.</strong>
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Hum. Molec. Genet. 10: 201-210, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11159938/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11159938</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11159938" 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/10.3.201" target="_blank">Full Text</a>]
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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George E. Tiller - updated : 4/17/2001
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<span class="mim-text-font">
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Victor A. McKusick - updated : 2/26/1997
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<span class="mim-text-font">
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Mark H. Paalman : 11/7/1996
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wwang : 03/11/2010
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cwells : 4/26/2001<br>cwells : 4/20/2001<br>cwells : 4/17/2001<br>cwells : 4/17/2001<br>mark : 2/26/1997<br>terry : 2/24/1997<br>mark : 11/8/1996<br>mark : 11/7/1996
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<strong>*</strong> 601491
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IMPRINTED IN PRADER-WILLI SYNDROME; IPW
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<strong><em>HGNC Approved Gene Symbol: IPW</em></strong>
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Cytogenetic location: 15q11.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 15:25,116,545-25,122,476 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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<strong>TEXT</strong>
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<strong>Cloning and Expression</strong>
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<p>By direct selection of expressed sequences from the Prader-Willi syndrome (PWS; 176270) smallest region of deletion overlap on paternal chromosome 15q11-q13, Wevrick et al. (1994) isolated a gene they showed to be expressed exclusively from the paternal allele in lymphoblasts and fibroblasts. The gene, designated 'imprinted gene in the Prader-Willi syndrome region' (IPW), is spliced and polyadenylated but encodes a polypeptide of only 45 amino acids. They showed that the transcript is cytoplasmic, as is the imprinted H19 gene (103280) on chromosome 11, and that it is widely expressed in adult and fetal tissues. By YAC contig analysis, Wevrick et al. (1994) placed IPW about 150 kb distal to SNRPN (182279) and about 50 kb proximal to the breakpoint of a translocation defining the distal end of the PWS critical region and the proximal end of the Angelman syndrome (105830) region. The authors observed that PWS patients with 15q11-q13 deletions do not express IPW, whereas expression was normal in Angelman syndrome patients. Wevrick et al. (1994) speculated that the IPW may function as an RNA (not unlike the XIST (314670) and H19 transcripts) and that it may play a role in the imprinting process. </p><p>Wevrick and Francke (1997) cloned a mouse gene, designated Ipw, that has sequence similarity to a part of IPW and is located in the conserved homologous region of mouse chromosome 7. The Ipw cDNA also contains no long open reading frame, is alternatively spliced, and contains multiple copies of a 147 bp repeat, arranged in a head-to-tail orientation, that are interrupted by the insertion of an intracisternal A particle sequence. Ipw is expressed predominantly in brain. They could show that expression of Ipw in an interspecies F1 animal was limited to the paternal allele. Because of all of these striking similarities, Wevrick and Francke (1997) proposed that Ipw is the murine homolog of IPW, a prime candidate for involvement in the cause of Prader-Willi syndrome. </p>
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<strong>Cytogenetics</strong>
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<p>Balanced translocations affecting the paternal copy of 15q11-q13 are a rare cause of Prader-Willi syndrome (PWS) or PWS-like features. Wirth et al. (2001) reported a de novo balanced reciprocal translocation, t(X;15)(q28;q12), in a female patient with atypical PWS. The translocation breakpoints in this patient and 2 previously reported patients mapped 70 to 80 kb distal to the SNURF-SNRPN gene (182279) and defined a breakpoint cluster region. The breakpoints disrupted one of several previously unknown 3-prime exons of this gene. RT-PCR experiments demonstrated that sequences distal to the breakpoint, including the C/D box small nucleolar RNA (snoRNA) gene cluster HBII-85 (SNORD116-1; 605436), as well as IPW and PAR1 (600161), were not expressed in the patient. The authors suggested that lack of expression of these sequences may contribute to the PWS phenotype. </p>
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<strong>REFERENCES</strong>
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Wevrick, R., Francke, U.
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<strong>An imprinted mouse transcript homologous to the human imprinted in Prader-Willi syndrome (IPW) gene.</strong>
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Hum. Molec. Genet. 6: 325-332, 1997.
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[PubMed: 9063754]
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[Full Text: https://doi.org/10.1093/hmg/6.2.325]
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Wevrick, R., Kerns, J. A., Francke, U.
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<strong>Identification of a novel paternally expressed gene in the Prader-Willi syndrome region.</strong>
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Hum. Molec. Genet. 3: 1877-1882, 1994.
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[PubMed: 7849716]
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[Full Text: https://doi.org/10.1093/hmg/3.10.1877]
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Wirth, J., Back, E., Huttenhofer, A., Nothwang, H.-G., Lich, C., Gross, S., Menzel, C,, Schinzel, A., Kioschis, P., Tommerup, N., Ropers, H.-H., Horsthemke, B., Buiting, K.
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<strong>A translocation breakpoint cluster disrupts the newly defined 3-prime end of the SNURF-SNRPN transcription unit on chromosome 15.</strong>
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Hum. Molec. Genet. 10: 201-210, 2001.
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[PubMed: 11159938]
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[Full Text: https://doi.org/10.1093/hmg/10.3.201]
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Contributors:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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George E. Tiller - updated : 4/17/2001<br>Victor A. McKusick - updated : 2/26/1997
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Mark H. Paalman : 11/7/1996
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<span class="mim-text-font">
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wwang : 03/11/2010<br>cwells : 4/26/2001<br>cwells : 4/20/2001<br>cwells : 4/17/2001<br>cwells : 4/17/2001<br>mark : 2/26/1997<br>terry : 2/24/1997<br>mark : 11/8/1996<br>mark : 11/7/1996
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