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Entry
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- *605436 - SMALL NUCLEOLAR RNA, C/D BOX, 116-1; SNORD116-1
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*605436</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#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="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#cytogenetics">Cytogenetics</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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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 role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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</nav>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000207063;t=ENST00000384335" 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=100033413" 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=605436" 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=ENSG00000207063;t=ENST00000384335" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NR_003316" 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=605436" 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://www.proteinatlas.org/search/SNORD116-1" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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</div>
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</div>
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</div>
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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=100033413" 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=ENSG00000207063;t=ENST00000384335" 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=SNORD116-1" 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=SNORD116-1" 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+100033413" 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/SNORD116-1" 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/100033413" 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=chr15&hgg_gene=ENST00000384335.1&hgg_start=25051476&hgg_end=25051572&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=605436[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=605436[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/ENSG00000207063" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.gwascentral.org/search?q=SNORD116-1" 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=SNORD116-1&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/PA162404256" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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<div><a href="https://www.alliancegenome.org/gene/HGNC:33067" 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/SNORD116-1#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/100033413/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=100033413" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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605436
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SMALL NUCLEOLAR RNA, C/D BOX, 116-1; SNORD116-1
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PRADER-WILLI CRITICAL REGION GENE 1; PWCR1<br />
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RNA, HBII-85 SMALL NUCLEOLAR snoRNA, HBII-85
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=SNORD116-1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">SNORD116-1</a></em></strong>
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Cytogenetic location: <a href="/geneMap/15/28?start=-3&limit=10&highlight=28">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=chr15:25051476-25051572&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'})">15:25,051,476-25,051,572</a> </span>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<p>Small nucleolar RNAs (snoRNAs), such as SNORD116-1, serve as methylation guidance RNAs in the modification of ribosomal RNA and other small nuclear RNAs. Multiple copies of the SNORD116 gene, including SNORD116-1, are located within the introns of a large primary noncoding transcript, SNHG14 (<a href="/entry/616259">616259</a>), that originates from the Prader-Willi syndrome (PWS; <a href="/entry/176270">176270</a>) critical region on human chromosome 15q11.2 (<a href="#2" class="mim-tip-reference" title="de los Santos, T., Schweizer, J., Rees, C. A., Francke, U. <strong>Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which is highly expressed in brain.</strong> Am. J. Hum. Genet. 67: 1067-1082, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11007541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11007541</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11007541[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/303106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11007541">de los Santos et al., 2000</a>; <a href="#6" class="mim-tip-reference" title="Runte, M., Huttenhofer, A., Gross, S., Kiefmann, M., Horsthemke, B., Buiting, K. <strong>The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A.</strong> Hum. Molec. Genet. 10: 2687-2700, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11726556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11726556</a>] [<a href="https://doi.org/10.1093/hmg/10.23.2687" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11726556">Runte et al., 2001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11726556+11007541" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="de los Santos, T., Schweizer, J., Rees, C. A., Francke, U. <strong>Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which is highly expressed in brain.</strong> Am. J. Hum. Genet. 67: 1067-1082, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11007541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11007541</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11007541[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/303106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11007541">De los Santos et al. (2000)</a> identified and characterized a novel imprinted gene, which they designated PWCR1, within the Prader-Willi syndrome (PWS; <a href="/entry/176270">176270</a>) critical region on human chromosome 15q11.2 and mouse chromosome 7. Expressed only from the paternal allele, both genes require the imprinting-center regulatory element for expression and are transcribed from the same strand. Both genes do not appear to encode a protein product. High human/mouse sequence similarity (87% identity) is limited to a 99-bp region, called the HMCR (human-mouse conserved region). The HMCR sequence has features of a C/D box small nuclear RNA (snoRNA) and is represented in an abundant small transcript in both species. Located in nucleoli, snoRNAs serve as methylation guidance RNAs in the modification of ribosomal RNA and other small nuclear RNAs. In addition to the nonpolyadenylated small RNAs, larger polyadenylated PWCR1 transcripts were found in most human tissues, whereas expression of any Pwcr1 RNAs was limited to mouse brain. Genomic sequence analysis showed the presence of multiple copies of PWCR1 and Pwcr1 that were organized within local tandem-repeat clusters. On a multispecies Southern blot, hybridization to an HMCR probe encoding the putative snoRNA was limited to mammals. <a href="#2" class="mim-tip-reference" title="de los Santos, T., Schweizer, J., Rees, C. A., Francke, U. <strong>Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which is highly expressed in brain.</strong> Am. J. Hum. Genet. 67: 1067-1082, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11007541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11007541</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11007541[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/303106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11007541">De los Santos et al. (2000)</a> reviewed genes identified in the chromosome 15q11-q13 region that are expressed only from the paternally derived allele. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11007541" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Runte, M., Huttenhofer, A., Gross, S., Kiefmann, M., Horsthemke, B., Buiting, K. <strong>The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A.</strong> Hum. Molec. Genet. 10: 2687-2700, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11726556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11726556</a>] [<a href="https://doi.org/10.1093/hmg/10.23.2687" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11726556">Runte et al. (2001)</a> reported that a processed antisense transcript of UBE3A (<a href="/entry/601623">601623</a>) starts at the imprinting center. The SNURF-SNRPN (<a href="/entry/182279">182279</a>) sense/UBE3A antisense transcription unit (SNHG14; <a href="/entry/616259">616259</a>) spans more than 460 kb and contains at least 148 exons, including previously identified SNURF-SNRPN and IPW (<a href="/entry/601491">601491</a>) exons. It serves as the host for the previously identified HBII-13, HBII-85, and HBII-52 (SNORD115-1; <a href="/entry/609837">609837</a>) snoRNAs, as well as for 4 additional snoRNAs (HBII-436, HBII-437, HBII-438A, and HBII-438B). Almost all of those snoRNAs are encoded within introns of this large transcript. Northern blot analysis revealed that most if not all of the snoRNAs are expressed by processing from these introns. The authors proposed that a lack of these snoRNAs may be causally involved in Prader-Willi syndrome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11726556" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="de los Santos, T., Schweizer, J., Rees, C. A., Francke, U. <strong>Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which is highly expressed in brain.</strong> Am. J. Hum. Genet. 67: 1067-1082, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11007541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11007541</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11007541[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/303106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11007541">De los Santos et al. (2000)</a> determined that SNORD116 genes, including SNORD116-1, are intronless. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11007541" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#2" class="mim-tip-reference" title="de los Santos, T., Schweizer, J., Rees, C. A., Francke, U. <strong>Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which is highly expressed in brain.</strong> Am. J. Hum. Genet. 67: 1067-1082, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11007541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11007541</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11007541[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/303106" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11007541">De los Santos et al. (2000)</a> mapped the SNORD116 gene cluster, which includes SNORD116-1, within the PWS critical region on chromosome 15q11.2. They mapped the mouse ortholog to the conserved syntenic region on mouse chromosome 7. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11007541" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Runte, M., Huttenhofer, A., Gross, S., Kiefmann, M., Horsthemke, B., Buiting, K. <strong>The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A.</strong> Hum. Molec. Genet. 10: 2687-2700, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11726556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11726556</a>] [<a href="https://doi.org/10.1093/hmg/10.23.2687" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11726556">Runte et al. (2001)</a> determined that the SNHG14 transcription unit contains a tandem repeat cluster of 27 SNORD116 genes, all but 1 of which are intronic. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11726556" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Powell, W. T., Coulson, R. L., Crary, F. K., Wong, S. S., Ach, R. A., Tsang, P., Yamada, N. A., Yasui, D. H., LaSalle, J. M. <strong>A Prader-Willi locus lncRNA cloud modulates diurnal genes and energy expenditure.</strong> Hum. Molec. Genet. 22: 4318-4328, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23771028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23771028</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23771028[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/10.1093/hmg/ddt281" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23771028">Powell et al. (2013)</a> stated that the SNORD115 (see <a href="/entry/609837">609837</a>) and SNORD116 snoRNAs are processed from 2 distinct long noncoding RNA (lncRNA) host genes, 115HG and 116HG, respectively, that are transcribed as part of the same primary transcript originating from the imprinting control region (see <a href="/entry/616259">616259</a>). By RNA FISH of adult mouse brain, <a href="#5" class="mim-tip-reference" title="Powell, W. T., Coulson, R. L., Crary, F. K., Wong, S. S., Ach, R. A., Tsang, P., Yamada, N. A., Yasui, D. H., LaSalle, J. M. <strong>A Prader-Willi locus lncRNA cloud modulates diurnal genes and energy expenditure.</strong> Hum. Molec. Genet. 22: 4318-4328, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23771028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23771028</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23771028[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/10.1093/hmg/ddt281" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23771028">Powell et al. (2013)</a> found that 116Hg and 115Hg appeared as overlapping but distinct cloud-like domains in neuronal cell nuclei. These clouds were observed in neurons in several brain regions, but not in nonneuronal cells and not in liver or spleen. Both 116Hg and 115Hg lncRNA clouds increased in diameter during the first week of postnatal life and localized to the paternal decondensed allele of Snrpn-Ube3a. The 116Hg and 115Hg clouds also increased in size during sleep. RNA/DNA FISH of postmortem human brain confirmed that 116HG formed an RNA cloud that localized to the decondensed SNORD116 paternal allele. Chromatin isolation by RNA purification (ChIRP) in adult mouse brain showed that 116Hg interacted with Snord116 DNA and with the transcriptional activator Rbbp5 (<a href="/entry/600697">600697</a>) in an RNA-dependent manner. ChIRP, followed by gene ontology analysis, revealed that 116Hg associated with 2,403 genes that were enriched for brain expression, protein transport, protein and chromatin modification, and metabolism. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23771028" 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>Balanced translocations affecting the paternal copy of 15q11-q13 are a rare cause of PWS or PWS-like features. <a href="#8" 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 snoRNA gene cluster HBII-85, as well as IPW (<a href="/entry/601491">601491</a>) 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><p><a href="#7" class="mim-tip-reference" title="Sahoo, T., del Gaudio, D., German, J. R., Shinawi, M., Peters, S. U., Person, R. E., Garnica, A., Cheung, S. W., Beaudet, A. L. <strong>Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.</strong> Nature Genet. 40: 719-721, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18500341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18500341</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18500341[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ng.158" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18500341">Sahoo et al. (2008)</a> reported a boy with all of 7 major clinical criteria for Prader-Willi syndrome, including neonatal hypotonia, feeding difficulties and failure to thrive during infancy, excessive weight gain after 18 months, hyperphagia, hypogonadism, and global developmental delay; facial features were considered equivocal. Additional minor features included behavioral problems, sleep apnea, skin picking, speech delay, and small hands and feet relative to height. High-resolution chromosome and array comparative genomic hybridization showed an atypical deletion of the paternal chromosome within the snoRNA region at chromosome 15q11.2. The deletion encompassed HBII-438A, all 29 snoRNAs comprising the HBII-85 cluster, and the proximal 23 of the 42 snoRNAs comprising the HBII-52 cluster. The data suggested that paternal deficiency of the HBII-85 cluster may cause key manifestations of the PWS phenotype, although some atypical features suggested that other genes in the region may make lesser phenotypic contributions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18500341" 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="de Smith, A. J., Purmann, C., Walters, R. G., Ellis, R. J., Holder, S. E., Van Haelst, M. M., Brady, A. F., Fairbrother, U. L., Dattani, M., Keogh, J. M., Henning, E., Yeo, G. S. H., O'Rahilly, S., Froguel, P., Farooqi, I. S., Blakemore, A. I. F. <strong>A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism.</strong> Hum. Molec. Genet. 18: 3257-3265, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19498035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19498035</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19498035[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/10.1093/hmg/ddp263" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19498035">De Smith et al. (2009)</a> reported a 19-year-old male with hyperphagia, severe obesity, mild learning difficulties, and hypogonadism, in whom diagnostic tests for Prader-Willi syndrome had been negative. The authors identified a 187-kb deletion at chromosome 15q11-q13 that encompassed several exons of SNURF-SNRPN, the HBII-85 cluster, and IPW, but did not include the HBII-52 cluster. HBII-85 snoRNAs, as well as HBII-436, HBII-13, HBII-437, and HBII-438A, were not expressed in peripheral lymphocytes from the patient. Characterization of the clinical phenotype revealed increased ad libitum food intake, normal basal metabolic rate when adjusted for fat-free mass, partial hypogonadotropic hypogonadism, and growth failure. These findings provided direct evidence for the role of a particular family of noncoding RNAs, the HBII-85 snoRNA cluster, in human energy homeostasis, growth, and reproduction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19498035" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 23-year-old woman with Prader-Willi syndrome, <a href="#1" class="mim-tip-reference" title="Bieth, E., Eddiry, S., Gaston, V., Lorenzini, F., Buffet, A., Auriol, F. C., Molinas, C., Cailley, D., Rooryck, C., Arveiler, B., Cavaille, J., Salles, J. P., Tauber, M. <strong>Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi syndrome.</strong> Europ. J. Hum. Genet. 23: 252-255, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24916642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24916642</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24916642[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/ejhg.2014.103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24916642">Bieth et al. (2015)</a> identified a paternally transmitted 118-kb deletion of the SNORD116 gene cluster. SNORD109A and IPW were also deleted in the patient. SNORD116 expression was absent in patient cells, but present in her unaffected father's cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24916642" 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="#4" class="mim-tip-reference" title="Leung, K. N., Vallero, R. O., DuBose, A. J., Resnick, J. L., LaSalle, J. M. <strong>Imprinting regulates mammalian snoRNA-encoding chromatin decondensation and neuronal nucleolar size.</strong> Hum. Molec. Genet. 18: 4227-4238, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19656775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19656775</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19656775[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/10.1093/hmg/ddp373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19656775">Leung et al. (2009)</a> described epigenetically regulated chromatin decondensation at 2 imprinted snoRNA clusters in human and mouse brain. An 8-fold allele-specific decondensation of snoRNA chromatin was developmentally regulated specifically in maturing mouse neurons, correlating with HBII-85 nucleolar accumulation and increased nucleolar size. Allele-specific decondensation of snoRNA chromatin was also detected for the C/D snoRNA clusters near Gtl2 (MEG3; <a href="/entry/605636">605636</a>) in maturing mouse neurons. Reciprocal mouse models revealed a genetic and epigenetic requirement of the 35-kb imprinting center at the Snrpn-Ube3a locus for transcriptionally regulated chromatin decondensation. PWS human brain and imprinting center deletion mouse Purkinje neurons showed significantly decreased nucleolar size, demonstrating the essential role of the 15q11-q13 HBII-85 locus in neuronal nucleolar maturation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19656775" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Powell, W. T., Coulson, R. L., Crary, F. K., Wong, S. S., Ach, R. A., Tsang, P., Yamada, N. A., Yasui, D. H., LaSalle, J. M. <strong>A Prader-Willi locus lncRNA cloud modulates diurnal genes and energy expenditure.</strong> Hum. Molec. Genet. 22: 4318-4328, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23771028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23771028</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23771028[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/10.1093/hmg/ddt281" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23771028">Powell et al. (2013)</a> found that half of the genes associated with 116Hg were upregulated in mice heterozygous for a deletion of the Snord116 repeat cluster (Snord116del mice) compared with wildtype. Snord116del mice exhibited increased energy expenditure corresponding to dysregulation of diurnally expressed Mtor (<a href="/entry/601231">601231</a>) and the circadian genes Clock (<a href="/entry/601851">601851</a>), Cry1 (<a href="/entry/601933">601933</a>), and Per2 (<a href="/entry/603426">603426</a>). <a href="#5" class="mim-tip-reference" title="Powell, W. T., Coulson, R. L., Crary, F. K., Wong, S. S., Ach, R. A., Tsang, P., Yamada, N. A., Yasui, D. H., LaSalle, J. M. <strong>A Prader-Willi locus lncRNA cloud modulates diurnal genes and energy expenditure.</strong> Hum. Molec. Genet. 22: 4318-4328, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23771028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23771028</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23771028[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/10.1093/hmg/ddt281" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23771028">Powell et al. (2013)</a> concluded that 116HG regulates diurnal energy expenditure in the brain. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23771028" 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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<ol>
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<a id="1" class="mim-anchor"></a>
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<a id="Bieth2015" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Bieth, E., Eddiry, S., Gaston, V., Lorenzini, F., Buffet, A., Auriol, F. C., Molinas, C., Cailley, D., Rooryck, C., Arveiler, B., Cavaille, J., Salles, J. P., Tauber, M.
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<strong>Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi syndrome.</strong>
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Europ. J. Hum. Genet. 23: 252-255, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24916642/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24916642</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24916642[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=24916642" 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/ejhg.2014.103" target="_blank">Full Text</a>]
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</p>
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<a id="2" class="mim-anchor"></a>
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<a id="de los Santos2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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de los Santos, T., Schweizer, J., Rees, C. A., Francke, U.
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<strong>Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which is highly expressed in brain.</strong>
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Am. J. Hum. Genet. 67: 1067-1082, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11007541/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11007541</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11007541[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=11007541" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/303106" target="_blank">Full Text</a>]
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</p>
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<a id="3" class="mim-anchor"></a>
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<a id="de Smith2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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de Smith, A. J., Purmann, C., Walters, R. G., Ellis, R. J., Holder, S. E., Van Haelst, M. M., Brady, A. F., Fairbrother, U. L., Dattani, M., Keogh, J. M., Henning, E., Yeo, G. S. H., O'Rahilly, S., Froguel, P., Farooqi, I. S., Blakemore, A. I. F.
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<strong>A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism.</strong>
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Hum. Molec. Genet. 18: 3257-3265, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19498035/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19498035</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19498035[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=19498035" 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/ddp263" target="_blank">Full Text</a>]
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<a id="Leung2009" class="mim-anchor"></a>
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<div class="">
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Leung, K. N., Vallero, R. O., DuBose, A. J., Resnick, J. L., LaSalle, J. M.
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<strong>Imprinting regulates mammalian snoRNA-encoding chromatin decondensation and neuronal nucleolar size.</strong>
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Hum. Molec. Genet. 18: 4227-4238, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19656775/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19656775</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19656775[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=19656775" 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/ddp373" target="_blank">Full Text</a>]
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<a id="5" class="mim-anchor"></a>
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<a id="Powell2013" class="mim-anchor"></a>
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Powell, W. T., Coulson, R. L., Crary, F. K., Wong, S. S., Ach, R. A., Tsang, P., Yamada, N. A., Yasui, D. H., LaSalle, J. M.
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<strong>A Prader-Willi locus lncRNA cloud modulates diurnal genes and energy expenditure.</strong>
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Hum. Molec. Genet. 22: 4318-4328, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23771028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23771028</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23771028[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=23771028" 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/ddt281" target="_blank">Full Text</a>]
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</p>
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<a id="6" class="mim-anchor"></a>
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<a id="Runte2001" class="mim-anchor"></a>
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<div class="">
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Runte, M., Huttenhofer, A., Gross, S., Kiefmann, M., Horsthemke, B., Buiting, K.
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<strong>The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A.</strong>
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Hum. Molec. Genet. 10: 2687-2700, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11726556/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11726556</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11726556" 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/10.23.2687" target="_blank">Full Text</a>]
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Sahoo2008" class="mim-anchor"></a>
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Sahoo, T., del Gaudio, D., German, J. R., Shinawi, M., Peters, S. U., Person, R. E., Garnica, A., Cheung, S. W., Beaudet, A. L.
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<strong>Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.</strong>
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Nature Genet. 40: 719-721, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18500341/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18500341</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18500341[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=18500341" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/ng.158" target="_blank">Full Text</a>]
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<a id="8" class="mim-anchor"></a>
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<a id="Wirth2001" class="mim-anchor"></a>
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<div class="">
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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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</ol>
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </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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Cassandra L. Kniffin - updated : 11/4/2015
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 5/19/2015<br>Matthew B. Gross - updated : 3/20/2015<br>George E. Tiller - updated : 10/4/2010<br>George E. Tiller - updated : 7/7/2010<br>Cassandra L. Kniffin - updated : 7/9/2008<br>George E. Tiller - updated : 9/13/2002<br>George E. Tiller - updated : 4/17/2001
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 11/29/2000
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alopez : 11/06/2015
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<span class="mim-text-font">
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ckniffin : 11/4/2015<br>mgross : 7/13/2015<br>mcolton : 5/19/2015<br>mgross : 3/20/2015<br>mgross : 3/20/2015<br>wwang : 10/21/2010<br>terry : 10/4/2010<br>wwang : 7/20/2010<br>terry : 7/7/2010<br>wwang : 3/11/2010<br>alopez : 7/16/2008<br>ckniffin : 7/9/2008<br>mgross : 1/19/2006<br>cwells : 9/13/2002<br>cwells : 4/26/2001<br>cwells : 4/20/2001<br>cwells : 4/17/2001<br>carol : 4/9/2001<br>carol : 11/29/2000
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<strong>*</strong> 605436
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<h3>
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SMALL NUCLEOLAR RNA, C/D BOX, 116-1; SNORD116-1
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</h3>
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<em>Alternative titles; symbols</em>
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PRADER-WILLI CRITICAL REGION GENE 1; PWCR1<br />
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RNA, HBII-85 SMALL NUCLEOLAR snoRNA, HBII-85
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<strong><em>HGNC Approved Gene Symbol: SNORD116-1</em></strong>
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Cytogenetic location: 15q11.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 15:25,051,476-25,051,572 </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>Description</strong>
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<span class="mim-text-font">
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<p>Small nucleolar RNAs (snoRNAs), such as SNORD116-1, serve as methylation guidance RNAs in the modification of ribosomal RNA and other small nuclear RNAs. Multiple copies of the SNORD116 gene, including SNORD116-1, are located within the introns of a large primary noncoding transcript, SNHG14 (616259), that originates from the Prader-Willi syndrome (PWS; 176270) critical region on human chromosome 15q11.2 (de los Santos et al., 2000; Runte et al., 2001). </p>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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<p>De los Santos et al. (2000) identified and characterized a novel imprinted gene, which they designated PWCR1, within the Prader-Willi syndrome (PWS; 176270) critical region on human chromosome 15q11.2 and mouse chromosome 7. Expressed only from the paternal allele, both genes require the imprinting-center regulatory element for expression and are transcribed from the same strand. Both genes do not appear to encode a protein product. High human/mouse sequence similarity (87% identity) is limited to a 99-bp region, called the HMCR (human-mouse conserved region). The HMCR sequence has features of a C/D box small nuclear RNA (snoRNA) and is represented in an abundant small transcript in both species. Located in nucleoli, snoRNAs serve as methylation guidance RNAs in the modification of ribosomal RNA and other small nuclear RNAs. In addition to the nonpolyadenylated small RNAs, larger polyadenylated PWCR1 transcripts were found in most human tissues, whereas expression of any Pwcr1 RNAs was limited to mouse brain. Genomic sequence analysis showed the presence of multiple copies of PWCR1 and Pwcr1 that were organized within local tandem-repeat clusters. On a multispecies Southern blot, hybridization to an HMCR probe encoding the putative snoRNA was limited to mammals. De los Santos et al. (2000) reviewed genes identified in the chromosome 15q11-q13 region that are expressed only from the paternally derived allele. </p><p>Runte et al. (2001) reported that a processed antisense transcript of UBE3A (601623) starts at the imprinting center. The SNURF-SNRPN (182279) sense/UBE3A antisense transcription unit (SNHG14; 616259) spans more than 460 kb and contains at least 148 exons, including previously identified SNURF-SNRPN and IPW (601491) exons. It serves as the host for the previously identified HBII-13, HBII-85, and HBII-52 (SNORD115-1; 609837) snoRNAs, as well as for 4 additional snoRNAs (HBII-436, HBII-437, HBII-438A, and HBII-438B). Almost all of those snoRNAs are encoded within introns of this large transcript. Northern blot analysis revealed that most if not all of the snoRNAs are expressed by processing from these introns. The authors proposed that a lack of these snoRNAs may be causally involved in Prader-Willi syndrome. </p>
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<strong>Gene Structure</strong>
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<p>De los Santos et al. (2000) determined that SNORD116 genes, including SNORD116-1, are intronless. </p>
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<strong>Mapping</strong>
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<p>De los Santos et al. (2000) mapped the SNORD116 gene cluster, which includes SNORD116-1, within the PWS critical region on chromosome 15q11.2. They mapped the mouse ortholog to the conserved syntenic region on mouse chromosome 7. </p><p>Runte et al. (2001) determined that the SNHG14 transcription unit contains a tandem repeat cluster of 27 SNORD116 genes, all but 1 of which are intronic. </p>
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<strong>Gene Function</strong>
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<p>Powell et al. (2013) stated that the SNORD115 (see 609837) and SNORD116 snoRNAs are processed from 2 distinct long noncoding RNA (lncRNA) host genes, 115HG and 116HG, respectively, that are transcribed as part of the same primary transcript originating from the imprinting control region (see 616259). By RNA FISH of adult mouse brain, Powell et al. (2013) found that 116Hg and 115Hg appeared as overlapping but distinct cloud-like domains in neuronal cell nuclei. These clouds were observed in neurons in several brain regions, but not in nonneuronal cells and not in liver or spleen. Both 116Hg and 115Hg lncRNA clouds increased in diameter during the first week of postnatal life and localized to the paternal decondensed allele of Snrpn-Ube3a. The 116Hg and 115Hg clouds also increased in size during sleep. RNA/DNA FISH of postmortem human brain confirmed that 116HG formed an RNA cloud that localized to the decondensed SNORD116 paternal allele. Chromatin isolation by RNA purification (ChIRP) in adult mouse brain showed that 116Hg interacted with Snord116 DNA and with the transcriptional activator Rbbp5 (600697) in an RNA-dependent manner. ChIRP, followed by gene ontology analysis, revealed that 116Hg associated with 2,403 genes that were enriched for brain expression, protein transport, protein and chromatin modification, and metabolism. </p>
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<p>Balanced translocations affecting the paternal copy of 15q11-q13 are a rare cause of 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 snoRNA gene cluster HBII-85, as well as IPW (601491) 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><p>Sahoo et al. (2008) reported a boy with all of 7 major clinical criteria for Prader-Willi syndrome, including neonatal hypotonia, feeding difficulties and failure to thrive during infancy, excessive weight gain after 18 months, hyperphagia, hypogonadism, and global developmental delay; facial features were considered equivocal. Additional minor features included behavioral problems, sleep apnea, skin picking, speech delay, and small hands and feet relative to height. High-resolution chromosome and array comparative genomic hybridization showed an atypical deletion of the paternal chromosome within the snoRNA region at chromosome 15q11.2. The deletion encompassed HBII-438A, all 29 snoRNAs comprising the HBII-85 cluster, and the proximal 23 of the 42 snoRNAs comprising the HBII-52 cluster. The data suggested that paternal deficiency of the HBII-85 cluster may cause key manifestations of the PWS phenotype, although some atypical features suggested that other genes in the region may make lesser phenotypic contributions. </p><p>De Smith et al. (2009) reported a 19-year-old male with hyperphagia, severe obesity, mild learning difficulties, and hypogonadism, in whom diagnostic tests for Prader-Willi syndrome had been negative. The authors identified a 187-kb deletion at chromosome 15q11-q13 that encompassed several exons of SNURF-SNRPN, the HBII-85 cluster, and IPW, but did not include the HBII-52 cluster. HBII-85 snoRNAs, as well as HBII-436, HBII-13, HBII-437, and HBII-438A, were not expressed in peripheral lymphocytes from the patient. Characterization of the clinical phenotype revealed increased ad libitum food intake, normal basal metabolic rate when adjusted for fat-free mass, partial hypogonadotropic hypogonadism, and growth failure. These findings provided direct evidence for the role of a particular family of noncoding RNAs, the HBII-85 snoRNA cluster, in human energy homeostasis, growth, and reproduction. </p><p>In a 23-year-old woman with Prader-Willi syndrome, Bieth et al. (2015) identified a paternally transmitted 118-kb deletion of the SNORD116 gene cluster. SNORD109A and IPW were also deleted in the patient. SNORD116 expression was absent in patient cells, but present in her unaffected father's cells. </p>
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<strong>Molecular Genetics</strong>
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<p>Leung et al. (2009) described epigenetically regulated chromatin decondensation at 2 imprinted snoRNA clusters in human and mouse brain. An 8-fold allele-specific decondensation of snoRNA chromatin was developmentally regulated specifically in maturing mouse neurons, correlating with HBII-85 nucleolar accumulation and increased nucleolar size. Allele-specific decondensation of snoRNA chromatin was also detected for the C/D snoRNA clusters near Gtl2 (MEG3; 605636) in maturing mouse neurons. Reciprocal mouse models revealed a genetic and epigenetic requirement of the 35-kb imprinting center at the Snrpn-Ube3a locus for transcriptionally regulated chromatin decondensation. PWS human brain and imprinting center deletion mouse Purkinje neurons showed significantly decreased nucleolar size, demonstrating the essential role of the 15q11-q13 HBII-85 locus in neuronal nucleolar maturation. </p>
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<strong>Animal Model</strong>
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<p>Powell et al. (2013) found that half of the genes associated with 116Hg were upregulated in mice heterozygous for a deletion of the Snord116 repeat cluster (Snord116del mice) compared with wildtype. Snord116del mice exhibited increased energy expenditure corresponding to dysregulation of diurnally expressed Mtor (601231) and the circadian genes Clock (601851), Cry1 (601933), and Per2 (603426). Powell et al. (2013) concluded that 116HG regulates diurnal energy expenditure in the brain. </p>
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<strong>REFERENCES</strong>
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</h4>
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Bieth, E., Eddiry, S., Gaston, V., Lorenzini, F., Buffet, A., Auriol, F. C., Molinas, C., Cailley, D., Rooryck, C., Arveiler, B., Cavaille, J., Salles, J. P., Tauber, M.
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<strong>Highly restricted deletion of the SNORD116 region is implicated in Prader-Willi syndrome.</strong>
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Europ. J. Hum. Genet. 23: 252-255, 2015.
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[PubMed: 24916642]
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[Full Text: https://doi.org/10.1038/ejhg.2014.103]
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de los Santos, T., Schweizer, J., Rees, C. A., Francke, U.
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<strong>Small evolutionarily conserved RNA, resembling C/D box small nucleolar RNA, is transcribed from PWCR1, a novel imprinted gene in the Prader-Willi deletion region, which is highly expressed in brain.</strong>
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Am. J. Hum. Genet. 67: 1067-1082, 2000.
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[PubMed: 11007541]
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[Full Text: https://doi.org/10.1086/303106]
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de Smith, A. J., Purmann, C., Walters, R. G., Ellis, R. J., Holder, S. E., Van Haelst, M. M., Brady, A. F., Fairbrother, U. L., Dattani, M., Keogh, J. M., Henning, E., Yeo, G. S. H., O'Rahilly, S., Froguel, P., Farooqi, I. S., Blakemore, A. I. F.
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<strong>A deletion of the HBII-85 class of small nucleolar RNAs (snoRNAs) is associated with hyperphagia, obesity and hypogonadism.</strong>
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Hum. Molec. Genet. 18: 3257-3265, 2009.
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[PubMed: 19498035]
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[Full Text: https://doi.org/10.1093/hmg/ddp263]
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Leung, K. N., Vallero, R. O., DuBose, A. J., Resnick, J. L., LaSalle, J. M.
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<strong>Imprinting regulates mammalian snoRNA-encoding chromatin decondensation and neuronal nucleolar size.</strong>
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Hum. Molec. Genet. 18: 4227-4238, 2009.
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[PubMed: 19656775]
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[Full Text: https://doi.org/10.1093/hmg/ddp373]
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Powell, W. T., Coulson, R. L., Crary, F. K., Wong, S. S., Ach, R. A., Tsang, P., Yamada, N. A., Yasui, D. H., LaSalle, J. M.
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<strong>A Prader-Willi locus lncRNA cloud modulates diurnal genes and energy expenditure.</strong>
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Hum. Molec. Genet. 22: 4318-4328, 2013.
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[PubMed: 23771028]
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[Full Text: https://doi.org/10.1093/hmg/ddt281]
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Runte, M., Huttenhofer, A., Gross, S., Kiefmann, M., Horsthemke, B., Buiting, K.
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<strong>The IC-SNURF-SNRPN transcript serves as a host for multiple small nucleolar RNA species and as an antisense RNA for UBE3A.</strong>
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Hum. Molec. Genet. 10: 2687-2700, 2001.
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[PubMed: 11726556]
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[Full Text: https://doi.org/10.1093/hmg/10.23.2687]
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Sahoo, T., del Gaudio, D., German, J. R., Shinawi, M., Peters, S. U., Person, R. E., Garnica, A., Cheung, S. W., Beaudet, A. L.
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<strong>Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster.</strong>
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Nature Genet. 40: 719-721, 2008.
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[PubMed: 18500341]
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[Full Text: https://doi.org/10.1038/ng.158]
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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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Cassandra L. Kniffin - updated : 11/4/2015<br>Patricia A. Hartz - updated : 5/19/2015<br>Matthew B. Gross - updated : 3/20/2015<br>George E. Tiller - updated : 10/4/2010<br>George E. Tiller - updated : 7/7/2010<br>Cassandra L. Kniffin - updated : 7/9/2008<br>George E. Tiller - updated : 9/13/2002<br>George E. Tiller - updated : 4/17/2001
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Victor A. McKusick : 11/29/2000
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alopez : 11/06/2015<br>ckniffin : 11/4/2015<br>mgross : 7/13/2015<br>mcolton : 5/19/2015<br>mgross : 3/20/2015<br>mgross : 3/20/2015<br>wwang : 10/21/2010<br>terry : 10/4/2010<br>wwang : 7/20/2010<br>terry : 7/7/2010<br>wwang : 3/11/2010<br>alopez : 7/16/2008<br>ckniffin : 7/9/2008<br>mgross : 1/19/2006<br>cwells : 9/13/2002<br>cwells : 4/26/2001<br>cwells : 4/20/2001<br>cwells : 4/17/2001<br>carol : 4/9/2001<br>carol : 11/29/2000
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Thank you in advance for your generous support, <br />
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Ada Hamosh, MD, MPH <br />
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Scientific Director, OMIM <br />
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