3883 lines
332 KiB
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Entry
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- *601365 - DISHEVELLED 1; DVL1
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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">*601365</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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<li role="presentation">
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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</li>
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<li role="presentation">
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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 role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</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="#molecularGenetics">Molecular Genetics</a>
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<a href="#evolution">Evolution</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/601365">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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</ul>
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</div>
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</div>
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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=ENSG00000107404;t=ENST00000378888" 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=1855" 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=601365" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="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=ENSG00000107404;t=ENST00000378888" class="mim-tip-hint" title="Transcript-based views for coding and noncoding DNA." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Ensembl', 'domain': 'ensembl.org'})">Ensembl (MANE Select)</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001330311,NM_004421,XM_005244732,XM_005244733,XM_047448090" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/nuccore/NM_001330311" class="mim-tip-hint" title="A collection of genome, gene, and transcript sequence data from several sources, including GenBank, RefSeq." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI RefSeq (MANE)', 'domain': 'ncbi.nlm.nih'})">NCBI RefSeq (MANE Select)</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&hgFind=omimGeneAcc&position=601365" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=03220&isoform_id=03220_1&isoform_name=Isoform_1" class="mim-tip-hint" title="The Human Protein Reference Database; manually extracted and visually depicted information on human proteins." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HPRD', 'domain': 'hprd.org'})">HPRD</a></div>
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<div><a href="https://www.proteinatlas.org/search/DVL1" class="mim-tip-hint" title="The Human Protein Atlas contains information for a large majority of all human protein-coding genes regarding the expression and localization of the corresponding proteins based on both RNA and protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HumanProteinAtlas', 'domain': 'proteinatlas.org'})">Human Protein Atlas</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/protein/1184862,2291006,21751985,29792220,32479521,39644600,62088000,119576628,119576629,119576630,119576631,145559469,193788256,221039442,221043048,530360277,530360279,1057866092,2217264628,2462505469,2462505471,2462505473" class="mim-tip-hint" title="NCBI protein data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Protein', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Protein</a></div>
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<div><a href="https://www.uniprot.org/uniprotkb/O14640" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=1855" 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=ENSG00000107404;t=ENST00000378888" 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=DVL1" 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=DVL1" 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+1855" 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/DVL1" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></dd>
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<dd><a href="https://monarchinitiative.org/NCBIGene:1855" class="mim-tip-hint" title="Monarch Initiative." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Monarch', 'domain': 'monarchinitiative.org'})">Monarch</a></dd>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/1855" 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=chr1&hgg_gene=ENST00000378888.10&hgg_start=1335278&hgg_end=1349418&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://medlineplus.gov/genetics/gene/dvl1" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=601365[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 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=601365[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.deciphergenomics.org/gene/DVL1/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000107404" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=DVL1" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=DVL1" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=DVL1" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=DVL1&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/PA27540" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:3084" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0000499.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:94941" class="mim-tip-hint" title="International Mouse Phenotyping Consortium." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'IMPC', 'domain': 'knockoutmouse.org'})">IMPC</a></div>
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<div><a href="http://v1.marrvel.org/search/gene/DVL1#HomologGenesPanel" class="mim-tip-hint" title="Model organism Aggregated Resources for Rare Variant ExpLoration." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MARRVEL', 'domain': 'marrvel.org'})">MARRVEL</a></div>
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<div><a href="http://www.informatics.jax.org/marker/MGI:94941" class="mim-tip-hint" title="Mouse Genome Informatics; international database resource for the laboratory mouse, including integrated genetic, genomic, and biological data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MGI Mouse Gene', 'domain': 'informatics.jax.org'})">MGI Mouse Gene</a></div>
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<div><a href="https://www.mmrrc.org/catalog/StrainCatalogSearchForm.php?search_query=" class="mim-tip-hint" title="Mutant Mouse Resource & Research Centers." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MMRRC', 'domain': 'mmrrc.org'})">MMRRC</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gene/1855/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://omia.org/OMIA002654/" class="mim-tip-hint" title="Online Mendelian Inheritance in Animals (OMIA) is a database of genes, inherited disorders and traits in 191 animal species (other than human and mouse.)" target="_blank">OMIA</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=1855" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="mim#WormbaseGeneFold" id="mimWormbaseGeneToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes."><span id="mimWormbaseGeneToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Wormbase Gene</div>
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<div id="mimWormbaseGeneFold" class="collapse">
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<div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00001101;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00001101 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00001102;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00001102 </a></div><div style="margin-left: 0.5em;"><a href="https://wormbase.org/db/gene/gene?name=WBGene00003241;class=Gene" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">WBGene00003241 </a></div>
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</div>
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<div><a href="https://zfin.org/ZDB-GENE-071004-1" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:1855" 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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<div><a href="https://reactome.org/content/query?q=DVL1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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601365
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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DISHEVELLED 1; DVL1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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DSH, DROSOPHILA, HOMOLOG OF, 1; DVL
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=DVL1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">DVL1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/1/40?start=-3&limit=10&highlight=40">1p36.33</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr1:1335278-1349418&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'})">1:1,335,278-1,349,418</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
|
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
|
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/1/40?start=-3&limit=10&highlight=40">
|
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1p36.33
|
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</a>
|
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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Robinow syndrome, autosomal dominant 2
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
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<a href="/entry/616331"> 616331 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/601365" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/601365" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
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<p>The DVL1 gene encodes dishevelled-1, a member of a family of intracellular scaffolding proteins that act downstream of transmembrane WNT (<a href="/entry/164820">164820</a>) receptors. The Drosophila dishevelled gene (dsh) encodes a cytoplasmic phosphoprotein (<a href="#10" class="mim-tip-reference" title="Klingensmith, J., Nusse, R., Perrimon, N. <strong>The Drosophila segment polarity gene dishevelled encodes a novel protein required for response to the wingless signal.</strong> Genes Dev. 8: 118-130, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8288125/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8288125</a>] [<a href="https://doi.org/10.1101/gad.8.1.118" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8288125">Klingensmith et al., 1994</a>) that regulates cell proliferation, acting as a transducer molecule for developmental processes, including segmentation and neuroblast specification. <a href="#16" class="mim-tip-reference" title="Pizzuti, A., Amati, F., Calabrese, G., Mari, A., Colosimo, A, Silani, V., Giardino, L., Ratti, A., Penso, D., Calza, L., Palka, G., Scarlato, G., Novelli, G., Dallapicolla, B. <strong>cDNA characterization and chromosomal mapping of two human homologs of the Drosophila dishevelled polarity gene.</strong> Hum. Molec. Genet. 5: 953-958, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8817329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8817329</a>] [<a href="https://doi.org/10.1093/hmg/5.7.953" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8817329">Pizzuti et al. (1996)</a> noted that dsh is required for the function of the wingless gene product wg, a segment polarity gene homologous to the mammalian protooncogene WNT1. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8817329+8288125" 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="#16" class="mim-tip-reference" title="Pizzuti, A., Amati, F., Calabrese, G., Mari, A., Colosimo, A, Silani, V., Giardino, L., Ratti, A., Penso, D., Calza, L., Palka, G., Scarlato, G., Novelli, G., Dallapicolla, B. <strong>cDNA characterization and chromosomal mapping of two human homologs of the Drosophila dishevelled polarity gene.</strong> Hum. Molec. Genet. 5: 953-958, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8817329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8817329</a>] [<a href="https://doi.org/10.1093/hmg/5.7.953" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8817329">Pizzuti et al. (1996)</a> used oligonucleotides corresponding to the mouse dishevelled homolog (Dvl1) to isolate cDNA clones from a human fetal brain cDNA library and human adult caudate cDNA library. One human cDNA clone, designated DVL1 by them, encodes a 670-amino acid polypeptide that had 92% overall identity to the mouse Dvl1 protein (99% homology in the N-terminal half and 84% identity in the C-terminal half). By Northern blot analysis of poly(A) mRNA <a href="#16" class="mim-tip-reference" title="Pizzuti, A., Amati, F., Calabrese, G., Mari, A., Colosimo, A, Silani, V., Giardino, L., Ratti, A., Penso, D., Calza, L., Palka, G., Scarlato, G., Novelli, G., Dallapicolla, B. <strong>cDNA characterization and chromosomal mapping of two human homologs of the Drosophila dishevelled polarity gene.</strong> Hum. Molec. Genet. 5: 953-958, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8817329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8817329</a>] [<a href="https://doi.org/10.1093/hmg/5.7.953" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8817329">Pizzuti et al. (1996)</a> observed a transcription product of approximately 2.9 kb with maximal expression in adult skeletal muscle and pancreas and abundant expression in heart muscle relative to a control transcript. Detectable levels were also found in adult brain, placenta, lung, liver, and kidney. The same expression patterns were found in fetal tissues. DVL1 expression was detected in the human neural tube (particularly in the dorsal portions) by in situ hybridization. DVL1 shares approximately 64% amino acid identity with DVL3 (<a href="/entry/601368">601368</a>). <a href="#16" class="mim-tip-reference" title="Pizzuti, A., Amati, F., Calabrese, G., Mari, A., Colosimo, A, Silani, V., Giardino, L., Ratti, A., Penso, D., Calza, L., Palka, G., Scarlato, G., Novelli, G., Dallapicolla, B. <strong>cDNA characterization and chromosomal mapping of two human homologs of the Drosophila dishevelled polarity gene.</strong> Hum. Molec. Genet. 5: 953-958, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8817329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8817329</a>] [<a href="https://doi.org/10.1093/hmg/5.7.953" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8817329">Pizzuti et al. (1996)</a> concluded that the high level of homology in the N-terminal regions of these proteins indicates that the N-terminal regions encode essential domains for the whole class of dishevelled proteins, while the sequence divergence in the C-terminal half suggests that these regions contain domains which are responsible for specific single-molecule (i.e., DVL1 or DVL3) activity. They noted that 1 domain of DVL1 shows homology to the Drosophila discs large tumor suppressor gene dgl1 (<a href="/entry/601014">601014</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8817329" 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="#20" class="mim-tip-reference" title="Semenov, M. V., Snyder, M. <strong>Human dishevelled genes constitute a DHR-containing multigene family.</strong> Genomics 42: 302-310, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9192851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9192851</a>] [<a href="https://doi.org/10.1006/geno.1997.4713" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9192851">Semenov and Snyder (1997)</a> cloned and characterized 3 human homologs of dishevelled, thereby showing that these genes form a multigene family in humans. The cDNA sequence of DVL1 reported by <a href="#20" class="mim-tip-reference" title="Semenov, M. V., Snyder, M. <strong>Human dishevelled genes constitute a DHR-containing multigene family.</strong> Genomics 42: 302-310, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9192851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9192851</a>] [<a href="https://doi.org/10.1006/geno.1997.4713" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9192851">Semenov and Snyder (1997)</a> differs from that previously reported by <a href="#16" class="mim-tip-reference" title="Pizzuti, A., Amati, F., Calabrese, G., Mari, A., Colosimo, A, Silani, V., Giardino, L., Ratti, A., Penso, D., Calza, L., Palka, G., Scarlato, G., Novelli, G., Dallapicolla, B. <strong>cDNA characterization and chromosomal mapping of two human homologs of the Drosophila dishevelled polarity gene.</strong> Hum. Molec. Genet. 5: 953-958, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8817329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8817329</a>] [<a href="https://doi.org/10.1093/hmg/5.7.953" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8817329">Pizzuti et al. (1996)</a>. They also demonstrated that one of the human dishevelled homologs, DVL2 (<a href="/entry/602151">602151</a>), is a phosphoprotein, raising the possibility that the mechanisms of dishevelled function in Wnt signaling are likely to be conserved among metazoans. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8817329+9192851" 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="#22" class="mim-tip-reference" title="Wallingford, J. B., Rowning, B. A., Vogeli, K. M., Rothbacher, U., Fraser, S. E., Harland, R. M. <strong>Dishevelled controls cell polarity during Xenopus gastrulation.</strong> Nature 405: 81-85, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10811222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10811222</a>] [<a href="https://doi.org/10.1038/35011077" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10811222">Wallingford et al. (2000)</a> used time-lapse confocal microscopy to demonstrate that the failure of cells lacking Xenopus dishevelled function to undergo convergent extension results from defects in cell polarity. Furthermore, Xenopus dishevelled mutations that inhibit convergent extension correspond to mutations in Drosophila dishevelled that selectively perturb planar cell polarity. <a href="#22" class="mim-tip-reference" title="Wallingford, J. B., Rowning, B. A., Vogeli, K. M., Rothbacher, U., Fraser, S. E., Harland, R. M. <strong>Dishevelled controls cell polarity during Xenopus gastrulation.</strong> Nature 405: 81-85, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10811222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10811222</a>] [<a href="https://doi.org/10.1038/35011077" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10811222">Wallingford et al. (2000)</a> concluded that polarized cell behavior is essential for convergent extension and is controlled by vertebrate dishevelled. Thus, a vertebrate equivalent of the Drosophila planar cell polarity signaling cascade may be required for normal gastrulation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10811222" 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="#13" class="mim-tip-reference" title="Luo, Z. G., Wang, Q., Zhou, J. Z., Wang, J., Lou, Z., Liu, M., He, X., Wynshaw-Boris, A., Xiong, W. C., Lu, B., Mei, L. <strong>Regulation of AChR clustering by Dishevelled interacting with MuSK and PAK1.</strong> Neuron 35: 489-505, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12165471/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12165471</a>] [<a href="https://doi.org/10.1016/s0896-6273(02)00783-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12165471">Luo et al. (2002)</a> found that Dvl1 interacted with Musk (<a href="/entry/601296">601296</a>) in a mouse muscle cell line and in HEK293 cells transfected with mouse constructs. They determined that Dvl1 was expressed at a high level during development of embryonic mouse skeletal muscle, in a pattern that was similar to that of Musk, but expression decreased as development progressed. They further demonstrated that the Musk-Dvl1 interaction regulated acetylcholine receptor (see <a href="/entry/100690">100690</a>) clustering stimulated by agrin (<a href="/entry/103320">103320</a>), and a mutant form of Dvl that did not interact with Musk inhibited the ability of agrin to induce receptor clustering. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12165471" 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>From results of coimmunoprecipitation experiments, confocal microscopy analysis, and study of deletion mutants, <a href="#15" class="mim-tip-reference" title="Park, M., Moon, R. T. <strong>The planar cell-polarity gene stbm regulates cell behaviour and cell fate in vertebrate embryos.</strong> Nature Cell Biol. 4: 20-25, 2002. Note: Erratum: Nature Cell Biol. 4: 467 only, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11780127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11780127</a>] [<a href="https://doi.org/10.1038/ncb716" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11780127">Park and Moon (2002)</a> concluded that the Dsh protein interacts with stbm, the zebrafish and Xenopus homolog of VANGL2 (<a href="/entry/600533">600533</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11780127" 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="#17" class="mim-tip-reference" title="Rosso, S. B., Sussman, D., Wynshaw-Boris, A., Salinas, P. C. <strong>Wnt signaling through Dishevelled, Rac and JNK regulates dendritic development.</strong> Nature Neurosci. 8: 34-42, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15608632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15608632</a>] [<a href="https://doi.org/10.1038/nn1374" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15608632">Rosso et al. (2005)</a> examined expression of endogenous Dvl1 in mouse hippocampal neurons and found Dvl1 localized in dendrites and axons, where it was associated with microtubules, and accumulated in actin-rich regions. Overexpression of Dvl1 increased dendritic branching in cultured hippocampal neurons, similar to the effect of Wnt7b (<a href="/entry/601967">601967</a>) overexpression, and branching was blocked by Sfrp1 (<a href="/entry/604156">604156</a>), a secreted Wnt antagonist. Conversely, hippocampal neurons from mice lacking Dvl1 showed reduced dendritic arborization. Analysis of downstream events showed that Wnt7b and Dvl1 regulate dendritic development through a noncanonical Wnt pathway by activating Rac (see <a href="/entry/602048">602048</a>) and JNK (see <a href="/entry/601158">601158</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15608632" 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="Dollar, G. L., Weber, U., Mlodzik, M., Sokol, S. Y. <strong>Regulation of lethal giant larvae by Dishevelled.</strong> Nature 437: 1376-1380, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16251968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16251968</a>] [<a href="https://doi.org/10.1038/nature04116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16251968">Dollar et al. (2005)</a> demonstrated that a vertebrate homolog of Lgl (<a href="/entry/600966">600966</a>) associates with dishevelled, an essential mediator of Wnt signaling, and that dishevelled regulates the localization of Lgl in Xenopus ectoderm and Drosophila follicular epithelium. <a href="#6" class="mim-tip-reference" title="Dollar, G. L., Weber, U., Mlodzik, M., Sokol, S. Y. <strong>Regulation of lethal giant larvae by Dishevelled.</strong> Nature 437: 1376-1380, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16251968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16251968</a>] [<a href="https://doi.org/10.1038/nature04116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16251968">Dollar et al. (2005)</a> showed that both Lgl and Dsh are required for normal apical-basal polarity of Xenopus ectodermal cells. In addition, <a href="#6" class="mim-tip-reference" title="Dollar, G. L., Weber, U., Mlodzik, M., Sokol, S. Y. <strong>Regulation of lethal giant larvae by Dishevelled.</strong> Nature 437: 1376-1380, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16251968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16251968</a>] [<a href="https://doi.org/10.1038/nature04116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16251968">Dollar et al. (2005)</a> showed that the Wnt receptor frizzled-8 (<a href="/entry/606146">606146</a>), but not frizzled-7 (<a href="/entry/603410">603410</a>), causes Lgl to dissociate from the cortex with the concomitant loss of its activity in vivo. <a href="#6" class="mim-tip-reference" title="Dollar, G. L., Weber, U., Mlodzik, M., Sokol, S. Y. <strong>Regulation of lethal giant larvae by Dishevelled.</strong> Nature 437: 1376-1380, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16251968/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16251968</a>] [<a href="https://doi.org/10.1038/nature04116" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16251968">Dollar et al. (2005)</a> concluded that their findings suggest a molecular basis for the regulation of cell polarity by frizzled and dishevelled. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16251968" 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="#14" class="mim-tip-reference" title="Park, J., Ji, H., Jun, S., Gu, D., Hikasa, H., Li, L., Sokol, S. Y., McCrea, P. D. <strong>Frodo links Dishevelled to the p120-catenin/Kaiso pathway: distinct catenin subfamilies promote Wnt signals.</strong> Dev. Cell 11: 683-695, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17084360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17084360</a>] [<a href="https://doi.org/10.1016/j.devcel.2006.09.022" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17084360">Park et al. (2006)</a> identified Dsh and Frodo (DACT1; <a href="/entry/607861">607861</a>) as upstream regulators of the p120-catenin (CTNND1; <a href="/entry/601045">601045</a>)/Kaiso (<a href="/entry/300329">300329</a>) signaling pathway in Xenopus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17084360" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using live imaging of vertebrate cells, <a href="#2" class="mim-tip-reference" title="Bilic, J., Huang, Y.-L., Davidson, G., Zimmermann, T., Cruciat, C.-M., Bienz, M., Niehrs, C. <strong>Wnt induces LRP6 signalosomes and promotes dishevelled-dependent LRP6 phosphorylation.</strong> Science 316: 1619-1622, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17569865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17569865</a>] [<a href="https://doi.org/10.1126/science.1137065" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17569865">Bilic et al. (2007)</a> demonstrated that the scaffold protein dishevelled (DVL) is required for LRP6 (<a href="/entry/603507">603507</a>) phosphorylation and aggregation following WNT treatment. <a href="#2" class="mim-tip-reference" title="Bilic, J., Huang, Y.-L., Davidson, G., Zimmermann, T., Cruciat, C.-M., Bienz, M., Niehrs, C. <strong>Wnt induces LRP6 signalosomes and promotes dishevelled-dependent LRP6 phosphorylation.</strong> Science 316: 1619-1622, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17569865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17569865</a>] [<a href="https://doi.org/10.1126/science.1137065" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17569865">Bilic et al. (2007)</a> proposed that WNTs induce coclustering of receptors and DVL in LRP6 signalosomes, which in turn triggers LRP6 phosphorylation to promote Axin (<a href="/entry/603816">603816</a>) recruitment and beta-catenin (see <a href="/entry/116806">116806</a>) stabilization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17569865" 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="#24" class="mim-tip-reference" title="Zhang, X., Zhu, J., Yang, G.-Y., Wang, Q.-J., Qian, L., Chen, Y.-M., Chen, F., Tao, Y., Hu, H.-S., Wang, T., Luo, Z.-G. <strong>Dishevelled promotes axon differentiation by regulating atypical protein kinase C.</strong> Nature Cell Biol. 9: 743-754, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17558396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17558396</a>] [<a href="https://doi.org/10.1038/ncb1603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17558396">Zhang et al. (2007)</a> found that downregulation of Dvl abrogated axon differentiation in cultured embryonic rat hippocampal neurons, whereas overexpression of Dvl resulted in multiple axon formation. A complex of PAR3 (PARD3; <a href="/entry/606745">606745</a>), PAR6 (PARD6A; <a href="/entry/607484">607484</a>), and an atypical protein kinase C (aPKC), such as PKC-zeta (PRKCZ; <a href="/entry/176982">176982</a>), is required for axon-dendrite differentiation, and <a href="#24" class="mim-tip-reference" title="Zhang, X., Zhu, J., Yang, G.-Y., Wang, Q.-J., Qian, L., Chen, Y.-M., Chen, F., Tao, Y., Hu, H.-S., Wang, T., Luo, Z.-G. <strong>Dishevelled promotes axon differentiation by regulating atypical protein kinase C.</strong> Nature Cell Biol. 9: 743-754, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17558396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17558396</a>] [<a href="https://doi.org/10.1038/ncb1603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17558396">Zhang et al. (2007)</a> found that Dvl associated with Pkc-zeta in rat brain and transfected human embryonic kidney cells. The interaction of Dvl with Pkc-zeta resulted in stabilization and activation of Pkc-zeta. Expression of dominant-negative Pkc-zeta attenuated multiple axon formation due to Dvl overexpression in neurons, and overexpression of Pkc-zeta prevented axon loss due to Dvl downregulation. Wnt5a (<a href="/entry/164975">164975</a>), a noncanonical Wnt, activated Pkc-zeta and promoted axon differentiation, and downregulation of Dvl or inhibition of Pkc-zeta attenuated the Wnt5a effect on axon differentiation. <a href="#24" class="mim-tip-reference" title="Zhang, X., Zhu, J., Yang, G.-Y., Wang, Q.-J., Qian, L., Chen, Y.-M., Chen, F., Tao, Y., Hu, H.-S., Wang, T., Luo, Z.-G. <strong>Dishevelled promotes axon differentiation by regulating atypical protein kinase C.</strong> Nature Cell Biol. 9: 743-754, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17558396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17558396</a>] [<a href="https://doi.org/10.1038/ncb1603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17558396">Zhang et al. (2007)</a> concluded that WNT5A and DVL promote axon differentiation mediated by the PAR3-PAR6-aPKC complex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17558396" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By knockout analysis in MDCK cells, <a href="#9" class="mim-tip-reference" title="Elbert, M., Cohen, D., Musch, A. <strong>PAR1b promotes cell-cell adhesion and inhibits dishevelled-mediated transformation of Madin-Darby canine kidney cells.</strong> Molec. Biol. Cell 17: 3345-3355, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16707567/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16707567</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16707567[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/10.1091/mbc.e06-03-0193" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16707567">Elbert et al. (2006)</a> demonstrated that Par1b (MARK2; <a href="/entry/600526">600526</a>) promoted cell-cell adhesion. Dvl1 overexpression phenocopied Par1b knockdown in polarizing MDCK cells, and Par1b overexpression antagonized Dvl1-mediated disruption of cell-cell adhesion and polarization. In vitro analysis showed that Par1b phosphorylated Dvl1 on 2 sites, but the Dvl1 phenotype was independent of Par1b-mediated Dvl1 phosphorylation. Moreover, the morphogenetic effects of Dvl1 were not mediated by canonical or planar polarity Wnt pathways. Instead, Par1b antagonized Dvl1 by promoting interaction of E-cadherin (CDH1; <a href="/entry/192090">192090</a>) with the actin cytoskeleton. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16707567" 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>Mutations in the LRRK2 gene (<a href="/entry/609007">609007</a>) are the most common known cause of Parkinson disease (see PARK8; <a href="/entry/607060">607060</a>). <a href="#18" class="mim-tip-reference" title="Sancho, R. M., Law, B. M. H., Harvey, K. <strong>Mutations in the LRRK2 Roc-COR tandem domain link Parkinson's disease to Wnt signalling pathways.</strong> Hum. Molec. Genet. 18: 3955-3968, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19625296/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19625296</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19625296[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/ddp337" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19625296">Sancho et al. (2009)</a> reported interaction of LRRK2 with the dishevelled family of phosphoproteins DVL1, DVL2 (<a href="/entry/602151">602151</a>), and DVL3 (<a href="/entry/601368">601368</a>). The LRRK2 Roc-COR domain and the DVL1 DEP domain were necessary and sufficient for LRRK2-DVL1 interaction. Coexpression of DVL1 increased LRRK2 steady-state protein levels, an effect that was dependent on the DEP domain. LRRK2-DVL1-3 interactions were disrupted by the familial LRRK2 Y1699C mutation (<a href="/entry/609007#0002">609007.0002</a>), whereas pathogenic mutations at residues arg1441 (see, e.g., <a href="/entry/609007#0001">609007.0001</a>) and arg1728 strengthened LRRK2-DVL1 interactions. Coexpression of DVL1 with LRRK2 in mammalian cells resulted in the redistribution of LRRK2 to typical cytoplasmic DVL1 aggregates in HEK293 and SH-SY5Y cells and colocalization in neurites and growth cones of differentiated dopaminergic SH-SY5Y cells. Since the DVL1 DEP domain is known to be involved in the regulation of small GTPases, <a href="#18" class="mim-tip-reference" title="Sancho, R. M., Law, B. M. H., Harvey, K. <strong>Mutations in the LRRK2 Roc-COR tandem domain link Parkinson's disease to Wnt signalling pathways.</strong> Hum. Molec. Genet. 18: 3955-3968, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19625296/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19625296</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19625296[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/ddp337" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19625296">Sancho et al. (2009)</a> proposed that DVLs may influence LRRK2 GTPase activity, and that Roc-COR domain mutations modulating LRRK2-DVL interactions indirectly influence kinase activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19625296" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using nuclear magnetic resonance and fluorescence spectroscopy, <a href="#11" class="mim-tip-reference" title="Lee, H.-J., Finkelstein, D., Li, X., Wu, D., Shi, D.-L., Zheng, J. J. <strong>Identification of transmembrane protein 88 (TMEM88) as a Dishevelled-binding protein.</strong> J. Biol. Chem. 285: 41549-41556, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21044957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21044957</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21044957[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/10.1074/jbc.M110.193383" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21044957">Lee et al. (2010)</a> confirmed direct interaction between the isolated C-terminal PDZ-binding domain of human TMEM88 (<a href="/entry/617813">617813</a>) and recombinant mouse Dvl1. Overexpression of TMEM88 in HEK293 cells attenuated WNT1-induced expression of a reporter gene in a dose-dependent manner and required the C-terminal PDZ-binding VWV motif of TMEM88. Conversely, knockdown of TMEM88 via RNA interference elevated Wnt signaling. In Xenopus larvae animal cap explants, human TMEM88 localized to cell membranes and inhibited Wnt signaling induced by Xenopus Dsh but not by beta-catenin. When coinjected, TMEM88 recruited fluorescence-tagged Dsh to cell membranes. Expression of human TMEM88 also inhibited secondary axis formation induced in Xenopus larvae by overexpressed Dsh. Since membrane-bound frizzled receptor (FZ; see <a href="/entry/603408">603408</a>) promotes Wnt signaling by binding to the PDZ domain of DVL, <a href="#11" class="mim-tip-reference" title="Lee, H.-J., Finkelstein, D., Li, X., Wu, D., Shi, D.-L., Zheng, J. J. <strong>Identification of transmembrane protein 88 (TMEM88) as a Dishevelled-binding protein.</strong> J. Biol. Chem. 285: 41549-41556, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21044957/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21044957</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21044957[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/10.1074/jbc.M110.193383" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21044957">Lee et al. (2010)</a> hypothesized that TMEM88 counters Wnt signaling by inhibiting FZ-DVL interaction. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21044957" 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="#21" class="mim-tip-reference" title="Shafer, B., Onishi, K., Lo, C., Colakoglu, G., Zou, Y. <strong>Vangl2 promotes Wnt/planar cell polarity-like signaling by antagonizing Dvl1-mediated feedback inhibition in growth cone guidance.</strong> Dev. Cell 20: 177-191, 2011. Note: Erratum: Dev. Cell 20: 407 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21316586/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21316586</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21316586[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.devcel.2011.01.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21316586">Shafer et al. (2011)</a> found that both Dvl1 and Vangl2 were required for Wnt5a-stimulated outgrowth and anterior-posterior guidance of embryonic mouse and rat commissural axons. Dvl1 inhibited PCP signaling by increasing hyperphosphorylation of Frizzled-3 (FZD3; <a href="/entry/606143">606143</a>), preventing its internalization. Vangl2 antagonized Fzd3 phosphorylation and promoted its internalization. In rat commissural axon growth cones, Vangl2 predominantly localized on the plasma membrane and was highly enriched on tips of filopodia, as well as in patches of membrane where new filopodia emerged. <a href="#21" class="mim-tip-reference" title="Shafer, B., Onishi, K., Lo, C., Colakoglu, G., Zou, Y. <strong>Vangl2 promotes Wnt/planar cell polarity-like signaling by antagonizing Dvl1-mediated feedback inhibition in growth cone guidance.</strong> Dev. Cell 20: 177-191, 2011. Note: Erratum: Dev. Cell 20: 407 only, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21316586/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21316586</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21316586[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.devcel.2011.01.002" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21316586">Shafer et al. (2011)</a> proposed that the antagonistic functions of VANGL2 and DVL3 on FZD3 hyperphosphorylation and endocytosis sharpen PCP signaling at the tips of filopodia to sense directional Wnt signaling to cause turning of growth cones. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21316586" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By analysis of a panel of rodent-human somatic cell hybrids by PCR with primers for the DVL1 3-prime untranslated region, <a href="#16" class="mim-tip-reference" title="Pizzuti, A., Amati, F., Calabrese, G., Mari, A., Colosimo, A, Silani, V., Giardino, L., Ratti, A., Penso, D., Calza, L., Palka, G., Scarlato, G., Novelli, G., Dallapicolla, B. <strong>cDNA characterization and chromosomal mapping of two human homologs of the Drosophila dishevelled polarity gene.</strong> Hum. Molec. Genet. 5: 953-958, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8817329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8817329</a>] [<a href="https://doi.org/10.1093/hmg/5.7.953" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8817329">Pizzuti et al. (1996)</a> mapped the DVL1 gene to human chromosome 1. They used fluorescence in situ hybridization with cloned cDNAs to map the DVL1 gene to chromosome 1p36. <a href="#16" class="mim-tip-reference" title="Pizzuti, A., Amati, F., Calabrese, G., Mari, A., Colosimo, A, Silani, V., Giardino, L., Ratti, A., Penso, D., Calza, L., Palka, G., Scarlato, G., Novelli, G., Dallapicolla, B. <strong>cDNA characterization and chromosomal mapping of two human homologs of the Drosophila dishevelled polarity gene.</strong> Hum. Molec. Genet. 5: 953-958, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8817329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8817329</a>] [<a href="https://doi.org/10.1093/hmg/5.7.953" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8817329">Pizzuti et al. (1996)</a> noted that the region of DVL1 that shows homology to the Drosophila tumor suppressor gene dgl1, as well as its possible role as a neural differentiation factor, would make it a candidate gene for neuroblastomatous transformation (see also <a href="/entry/256700">256700</a>, the 1p36-linked neuroblastoma locus). The Schwartz-Jampel syndrome (<a href="/entry/255800">255800</a>) has been mapped to chromosome 1p36-p34 and <a href="#16" class="mim-tip-reference" title="Pizzuti, A., Amati, F., Calabrese, G., Mari, A., Colosimo, A, Silani, V., Giardino, L., Ratti, A., Penso, D., Calza, L., Palka, G., Scarlato, G., Novelli, G., Dallapicolla, B. <strong>cDNA characterization and chromosomal mapping of two human homologs of the Drosophila dishevelled polarity gene.</strong> Hum. Molec. Genet. 5: 953-958, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8817329/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8817329</a>] [<a href="https://doi.org/10.1093/hmg/5.7.953" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8817329">Pizzuti et al. (1996)</a> suggested that the phenotype of this disease is consistent with defects which might be expected from aberrant expression of a DVL gene during development. They noted also that Charcot-Marie-Tooth disease type 2A (<a href="/entry/118210">118210</a>) has been mapped to 1p36-1p35 and that the main pathologic feature of this disorder is a motor neuron axonal degeneration. See also the dishevelled-like locus that maps to the DiGeorge critical region on chromosome 22q11 (<a href="/entry/601225">601225</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8817329" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Bedell, J. A., Wagner-McPherson, C. B., Bengtsson, U., Handa, K., Dumars, K. W., Marsh, J. L., Smith, M., McPherson, J. D. <strong>A 1p deletion syndrome patient is hemizygous for a human homologue of the Drosophila dishevelled gene. (Abstract)</strong> Am. J. Hum. Genet. 59: A298 only, 1996."None>Bedell et al. (1996)</a> characterized the region of deletion in a patient with the 1p36 deletion syndrome (<a href="/entry/607872">607872</a>) whose karyotype was 46,XY, del(1)(p36.3). They identified the dishevelled gene within the deleted region. The authors speculated that this gene may play a role in the pathogenesis of the observed syndrome through haploinsufficiency or through genomic imprinting, which had been reported previously for this region of chromosome 1 by <a href="#5" class="mim-tip-reference" title="Caron, H., Peter, M., van Sluis, P., Speleman, F., de Kraker, J., Laureys, G., Michon, J., Brugieres, L., Voute, P. A., Westerveld, A., Slater, R., Delattre, O., Versteeg, R. <strong>Evidence for two tumour suppressor loci on chromosomal bands 1p35-36 involved in neuroblastoma: one probably imprinted, another associated with N-myc amplification.</strong> Hum. Molec. Genet. 4: 535-539, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7633401/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7633401</a>] [<a href="https://doi.org/10.1093/hmg/4.4.535" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7633401">Caron et al. (1995)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7633401" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In 8 patients, including a pair of monozygotic twins, with autosomal dominant Robinow syndrome-2 (DRS2; <a href="/entry/616331">616331</a>), <a href="#23" class="mim-tip-reference" title="White, J., Mazzeu, J. F., Hoischen, A., Jhangiani, S. N., Gambin, T., Alcino, M. C., Penney, S., Saraiva, J. M., Hove, H., Skovby, F., Kayserili, H., Estrella, E., and 10 others. <strong>DVL1 frameshift mutations clustering in the penultimate exon cause autosomal dominant Robinow syndrome.</strong> Am. J. Hum. Genet. 96: 612-622, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25817016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25817016</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25817016[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.02.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25817016">White et al. (2015)</a> identified 6 different de novo heterozygous truncating mutations in the DVL1 gene (see, e.g., <a href="#0001">601365.0001</a>-<a href="#0004">601365.0004</a>). Mutations in the first 3 patients were found by whole-exome sequencing; subsequent patients were identified from a cohort of 62 additional individuals with a similar phenotype who underwent targeted sequencing of the DVL1 gene. Functional studies of the variants were not performed, but studies of 2 patients' cells showed that the truncated proteins were expressed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25817016" 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 3 unrelated patients with DRS2, <a href="#3" class="mim-tip-reference" title="Bunn, K. J., Daniel, P., Rosken, H. S., O'Neill, A. C., Cameron-Christie, S. R., Morgan, T., Brunner, H. G., Lai, A., Kunst, H. P. M., Markie, D. M., Robertson, S. P. <strong>Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.</strong> Am. J. Hum. Genet. 96: 623-630, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25817014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25817014</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25817014[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.02.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25817014">Bunn et al. (2015)</a> identified 3 different heterozygous mutations in the DVL1 gene (<a href="#0004">601365.0004</a>-<a href="/entry/610365#0006">610365.0006</a>), all of which resulted in premature termination of the protein and addition of an abnormal highly basic C-terminal sequence. Analysis of cells from 1 of the patients showed that the mutation (c.1519del; <a href="#0004">601365.0004</a>) was translated into a stable protein and not degraded by nonsense-mediated mRNA decay. In vitro cellular expression studies showed that cotransfection of the mutation with wildtype DVL1 resulted in increased canonical WNT activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25817014" 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>Human evolution is characterized by a dramatic increase in brain size and complexity. To probe its genetic basis, <a href="#7" class="mim-tip-reference" title="Dorus, S., Vallender, E. J., Evans, P. D., Anderson, J. R., Gilbert, S. L., Mahowald, M., Wyckoff, G. J., Malcom, C. M., Lahn, B. T. <strong>Accelerated evolution of nervous system genes in the origin of Homo sapiens.</strong> Cell 119: 1027-1040, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15620360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15620360</a>] [<a href="https://doi.org/10.1016/j.cell.2004.11.040" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15620360">Dorus et al. (2004)</a> examined the evolution of genes involved in diverse aspects of nervous system biology. These genes, including DVL1, displayed significantly higher rates of protein evolution in primates than in rodents. This trend was most pronounced for the subset of genes implicated in nervous system development. Moreover, within primates, the acceleration of protein evolution was most prominent in the lineage leading from ancestral primates to humans. <a href="#7" class="mim-tip-reference" title="Dorus, S., Vallender, E. J., Evans, P. D., Anderson, J. R., Gilbert, S. L., Mahowald, M., Wyckoff, G. J., Malcom, C. M., Lahn, B. T. <strong>Accelerated evolution of nervous system genes in the origin of Homo sapiens.</strong> Cell 119: 1027-1040, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15620360/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15620360</a>] [<a href="https://doi.org/10.1016/j.cell.2004.11.040" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15620360">Dorus et al. (2004)</a> concluded that the phenotypic evolution of the human nervous system has a salient molecular correlate, i.e., accelerated evolution of the underlying genes, particularly those linked to nervous system development. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15620360" 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="#12" class="mim-tip-reference" title="Lijam, N., Paylor, R., McDonald, M. P., Crawley, J. N., Deng, C.-X., Herrup, K., Stevens, K. E., Maccaferri, G., McBain, C. J., Sussman, D. J., Wynshaw-Boris, A. <strong>Social interaction and sensorimotor gating abnormalities in mice lacking Dvl1.</strong> Cell 90: 895-905, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9298901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9298901</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)80354-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9298901">Lijam et al. (1997)</a> created Dvl1-null mice by gene targeting. Dvl1-deficient mice are viable, fertile, and structurally normal. However, these mice exhibited reduced social interaction, manifested as decreased whisker trimming, deficits in nest building, less huddling contact during sleep, and subordinate responses in a social dominance test. Sensorimotor gating was abnormal, as measured by deficits in prepulse inhibition of acoustic and tactile startle. Since reduced social interaction and abnormal sensorimotor gating are features of several human neuropsychiatric disorders, including schizophrenia, <a href="#12" class="mim-tip-reference" title="Lijam, N., Paylor, R., McDonald, M. P., Crawley, J. N., Deng, C.-X., Herrup, K., Stevens, K. E., Maccaferri, G., McBain, C. J., Sussman, D. J., Wynshaw-Boris, A. <strong>Social interaction and sensorimotor gating abnormalities in mice lacking Dvl1.</strong> Cell 90: 895-905, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9298901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9298901</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)80354-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9298901">Lijam et al. (1997)</a> suggested that Dvl1-deficient mice may provide a model for aspects of these disorders. <a href="#12" class="mim-tip-reference" title="Lijam, N., Paylor, R., McDonald, M. P., Crawley, J. N., Deng, C.-X., Herrup, K., Stevens, K. E., Maccaferri, G., McBain, C. J., Sussman, D. J., Wynshaw-Boris, A. <strong>Social interaction and sensorimotor gating abnormalities in mice lacking Dvl1.</strong> Cell 90: 895-905, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9298901/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9298901</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)80354-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9298901">Lijam et al. (1997)</a> concluded that these results were consistent with an interpretation that common genetic mechanisms underlie abnormal social behavior and implicated Dvl1 in processes underlying complex behaviors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9298901" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs797044834 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs797044834;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs797044834" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs797044834" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 unrelated patients (BAB4878 and 016462) with autosomal dominant Robinow syndrome-2 (DRS2; <a href="/entry/616331">616331</a>), <a href="#23" class="mim-tip-reference" title="White, J., Mazzeu, J. F., Hoischen, A., Jhangiani, S. N., Gambin, T., Alcino, M. C., Penney, S., Saraiva, J. M., Hove, H., Skovby, F., Kayserili, H., Estrella, E., and 10 others. <strong>DVL1 frameshift mutations clustering in the penultimate exon cause autosomal dominant Robinow syndrome.</strong> Am. J. Hum. Genet. 96: 612-622, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25817016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25817016</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25817016[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.02.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25817016">White et al. (2015)</a> identified a de novo heterozygous 13-bp deletion (c.1505_1517del, NM_004421.2) in exon 14 of the DVL1 gene, resulting in a frameshift and premature termination (His502ProfsTer143). The mutation in the first patient was found by whole-exome sequencing and confirmed by Sanger sequencing. The second patient was identified from a cohort of 62 additional individuals with a similar phenotype who underwent targeted sequencing of the DVL1 gene. The mutation was not found in publicly available databases or in an in-house database. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25817016" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient (BAB4073) with autosomal dominant Robinow syndrome-2 (DRS2; <a href="/entry/616331">616331</a>), <a href="#23" class="mim-tip-reference" title="White, J., Mazzeu, J. F., Hoischen, A., Jhangiani, S. N., Gambin, T., Alcino, M. C., Penney, S., Saraiva, J. M., Hove, H., Skovby, F., Kayserili, H., Estrella, E., and 10 others. <strong>DVL1 frameshift mutations clustering in the penultimate exon cause autosomal dominant Robinow syndrome.</strong> Am. J. Hum. Genet. 96: 612-622, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25817016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25817016</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25817016[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.02.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25817016">White et al. (2015)</a> identified a de novo heterozygous deletion (TT)/insertion (C) mutation (c.1570_1571delins, NM_004421.2) in exon 14 of the DVL1 gene, resulting in a frameshift and premature termination (Phe524ProfsTer125). The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. RT-PCR analysis of patient cells showed that the mutation escaped nonsense-mediated mRNA decay and that the truncated protein was expressed. The mutation was not found in publicly available databases or in an in-house database. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25817016" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs797044836 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs797044836;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs797044836" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs797044836" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a pair of monozygotic twins (016516 and 016517) with autosomal dominant Robinow syndrome-2 (DRS2; <a href="/entry/616331">616331</a>) originally reported by <a href="#19" class="mim-tip-reference" title="Saraiva, J. M., Cordeiro, I., Santos, H. G. <strong>Robinow syndrome in monozygotic twins with normal stature.</strong> Clin. Dysmorph. 8: 147-150, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10319206/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10319206</a>]" pmid="10319206">Saraiva et al. (1999)</a>, <a href="#23" class="mim-tip-reference" title="White, J., Mazzeu, J. F., Hoischen, A., Jhangiani, S. N., Gambin, T., Alcino, M. C., Penney, S., Saraiva, J. M., Hove, H., Skovby, F., Kayserili, H., Estrella, E., and 10 others. <strong>DVL1 frameshift mutations clustering in the penultimate exon cause autosomal dominant Robinow syndrome.</strong> Am. J. Hum. Genet. 96: 612-622, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25817016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25817016</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25817016[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.02.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25817016">White et al. (2015)</a> identified a de novo heterozygous 1-bp deletion of a C nucleotide (c.1508del, NM_004421.2) in exon 14 of the DVL1 gene, resulting in a frameshift and premature termination (Pro503ArgfsTer146). The mutation was not found in publicly available databases or in an in-house database. Functional studies of the variant were not performed. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10319206+25817016" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs797044835 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs797044835;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs797044835" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs797044835" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 6-year-old boy (patient BAB5264) with autosomal dominant Robinow syndrome-2 (DRS2; <a href="/entry/616331">616331</a>), <a href="#23" class="mim-tip-reference" title="White, J., Mazzeu, J. F., Hoischen, A., Jhangiani, S. N., Gambin, T., Alcino, M. C., Penney, S., Saraiva, J. M., Hove, H., Skovby, F., Kayserili, H., Estrella, E., and 10 others. <strong>DVL1 frameshift mutations clustering in the penultimate exon cause autosomal dominant Robinow syndrome.</strong> Am. J. Hum. Genet. 96: 612-622, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25817016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25817016</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25817016[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.02.015" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25817016">White et al. (2015)</a> identified heterozygosity for a 1-bp deletion of a T nucleotide at nucleotide 1519 in exon 14 of the DVL1 gene (c.1519del, NM_004421.2). The deletion, identified by whole-exome sequencing, resulted in a frameshift and premature termination of the protein (Trp507GlyfsTer142). <a href="#3" class="mim-tip-reference" title="Bunn, K. J., Daniel, P., Rosken, H. S., O'Neill, A. C., Cameron-Christie, S. R., Morgan, T., Brunner, H. G., Lai, A., Kunst, H. P. M., Markie, D. M., Robertson, S. P. <strong>Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.</strong> Am. J. Hum. Genet. 96: 623-630, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25817014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25817014</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25817014[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.02.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25817014">Bunn et al. (2015)</a> detected this mutation in a patient originally reported by <a href="#4" class="mim-tip-reference" title="Bunn, K. J., Lai, A., Al-Ani, A., Farella, M., Craw, S., Robertson, S. P. <strong>An osteosclerotic form of Robinow syndrome.</strong> Am. J. Med. Genet. 164A: 2638-2642, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25045061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25045061</a>] [<a href="https://doi.org/10.1002/ajmg.a.36677" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25045061">Bunn et al. (2014)</a> (patient 1 in both studies) and showed it to occur de novo in their patient. <a href="#3" class="mim-tip-reference" title="Bunn, K. J., Daniel, P., Rosken, H. S., O'Neill, A. C., Cameron-Christie, S. R., Morgan, T., Brunner, H. G., Lai, A., Kunst, H. P. M., Markie, D. M., Robertson, S. P. <strong>Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.</strong> Am. J. Hum. Genet. 96: 623-630, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25817014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25817014</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25817014[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.02.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25817014">Bunn et al. (2015)</a> found the mutation by whole-exome sequencing and validated it by Sanger sequencing; it was not found in the Exome Variant Server (ESP6500) database or in 400 in-house control exomes. Analysis of cells from the patient showed that the mutation was translated into a stable protein and not degraded by nonsense-mediated mRNA decay. In vitro cellular expression studies showed that cotransfection of the mutation with wildtype DVL1 resulted in increased canonical WNT activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25817016+25045061+25817014" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs797044839 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs797044839;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs797044839" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs797044839" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000193267 OR RCV002247612" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000193267, RCV002247612" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000193267...</a>
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<p>In a patient with autosomal dominant Robinow syndrome-2 (DRS2; <a href="/entry/616331">616331</a>) originally reported by <a href="#4" class="mim-tip-reference" title="Bunn, K. J., Lai, A., Al-Ani, A., Farella, M., Craw, S., Robertson, S. P. <strong>An osteosclerotic form of Robinow syndrome.</strong> Am. J. Med. Genet. 164A: 2638-2642, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25045061/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25045061</a>] [<a href="https://doi.org/10.1002/ajmg.a.36677" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25045061">Bunn et al. (2014)</a> (patient 2 in both reports), <a href="#3" class="mim-tip-reference" title="Bunn, K. J., Daniel, P., Rosken, H. S., O'Neill, A. C., Cameron-Christie, S. R., Morgan, T., Brunner, H. G., Lai, A., Kunst, H. P. M., Markie, D. M., Robertson, S. P. <strong>Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.</strong> Am. J. Hum. Genet. 96: 623-630, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25817014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25817014</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25817014[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.02.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25817014">Bunn et al. (2015)</a> identified a de novo heterozygous 1-bp deletion (c.1562del, NM_004421.2) in exon 14 of the DVL1 gene, resulting in a frameshift and premature termination (Pro521HisfsTer128). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=25045061+25817014" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs797044840 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs797044840;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs797044840" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs797044840" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000194315" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000194315" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000194315</a>
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<p>In a patient (patient 3) with autosomal dominant Robinow syndrome-2 (DRS2; <a href="/entry/616331">616331</a>) originally reported by <a href="#8" class="mim-tip-reference" title="Eijkenboom, D. F., Verbist, B. M., Cremers, C. W. R. J., Kunst, H. P. M. <strong>Bilateral conductive hearing impairment with hyperostosis of the temporal bone.</strong> Arch. Otolaryng. Head Neck Surg. 138: 309-312, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22431878/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22431878</a>] [<a href="https://doi.org/10.1001/archoto.2011.1459" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22431878">Eijkenboom et al. (2012)</a>, <a href="#3" class="mim-tip-reference" title="Bunn, K. J., Daniel, P., Rosken, H. S., O'Neill, A. C., Cameron-Christie, S. R., Morgan, T., Brunner, H. G., Lai, A., Kunst, H. P. M., Markie, D. M., Robertson, S. P. <strong>Mutations in DVL1 cause an osteosclerotic form of Robinow syndrome.</strong> Am. J. Hum. Genet. 96: 623-630, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25817014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25817014</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25817014[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.02.010" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25817014">Bunn et al. (2015)</a> identified a de novo heterozygous del/ins mutation (c.1576_1583delinsG, NM_004421.2) in exon 14 of the DVL1 gene, resulting in a frameshift and premature termination (Pro526AlafsTer121). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=22431878+25817014" 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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Bunn, K. J., Daniel, P., Rosken, H. S., O'Neill, A. C., Cameron-Christie, S. R., Morgan, T., Brunner, H. G., Lai, A., Kunst, H. P. M., Markie, D. M., Robertson, S. P.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25817014/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25817014</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25817014[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=25817014" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Bunn, K. J., Lai, A., Al-Ani, A., Farella, M., Craw, S., Robertson, S. P.
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Eijkenboom, D. F., Verbist, B. M., Cremers, C. W. R. J., Kunst, H. P. M.
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<strong>Bilateral conductive hearing impairment with hyperostosis of the temporal bone.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22431878/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22431878</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22431878" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>The planar cell-polarity gene stbm regulates cell behaviour and cell fate in vertebrate embryos.</strong>
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Nature Cell Biol. 4: 20-25, 2002. Note: Erratum: Nature Cell Biol. 4: 467 only, 2002.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11780127/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11780127</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11780127" 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/ncb716" target="_blank">Full Text</a>]
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</p>
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[<a href="https://doi.org/10.1093/hmg/5.7.953" target="_blank">Full Text</a>]
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<div class="">
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<p class="mim-text-font">
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15608632/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15608632</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15608632" 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/nn1374" target="_blank">Full Text</a>]
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19625296/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19625296</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19625296[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=19625296" 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/ddp337" target="_blank">Full Text</a>]
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<a id="Saraiva1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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<p class="mim-text-font">
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9192851/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9192851</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9192851" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1997.4713" target="_blank">Full Text</a>]
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Shafer, B., Onishi, K., Lo, C., Colakoglu, G., Zou, Y.
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<strong>Vangl2 promotes Wnt/planar cell polarity-like signaling by antagonizing Dvl1-mediated feedback inhibition in growth cone guidance.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21316586/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21316586</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21316586[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=21316586" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.devcel.2011.01.002" target="_blank">Full Text</a>]
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<a id="Wallingford2000" class="mim-anchor"></a>
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Wallingford, J. B., Rowning, B. A., Vogeli, K. M., Rothbacher, U., Fraser, S. E., Harland, R. M.
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<strong>Dishevelled controls cell polarity during Xenopus gastrulation.</strong>
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Nature 405: 81-85, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10811222/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10811222</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10811222" 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/10.1038/35011077" target="_blank">Full Text</a>]
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<a id="White2015" class="mim-anchor"></a>
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White, J., Mazzeu, J. F., Hoischen, A., Jhangiani, S. N., Gambin, T., Alcino, M. C., Penney, S., Saraiva, J. M., Hove, H., Skovby, F., Kayserili, H., Estrella, E., and 10 others.
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<strong>DVL1 frameshift mutations clustering in the penultimate exon cause autosomal dominant Robinow syndrome.</strong>
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Am. J. Hum. Genet. 96: 612-622, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25817016/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25817016</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25817016[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=25817016" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2015.02.015" target="_blank">Full Text</a>]
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<a id="Zhang2007" class="mim-anchor"></a>
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Zhang, X., Zhu, J., Yang, G.-Y., Wang, Q.-J., Qian, L., Chen, Y.-M., Chen, F., Tao, Y., Hu, H.-S., Wang, T., Luo, Z.-G.
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<strong>Dishevelled promotes axon differentiation by regulating atypical protein kinase C.</strong>
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Nature Cell Biol. 9: 743-754, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17558396/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17558396</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17558396" 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/ncb1603" target="_blank">Full Text</a>]
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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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Bao Lige - updated : 11/19/2024
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<span class="mim-text-font">
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Patricia A. Hartz - updated : 12/15/2017<br>Patricia A. Hartz - updated : 01/07/2016<br>Cassandra L. Kniffin - updated : 4/22/2015<br>George E. Tiller - updated : 8/6/2010<br>Patricia A. Hartz - updated : 6/23/2008<br>Ada Hamosh - updated : 6/26/2007<br>Patricia A. Hartz - updated : 1/3/2007<br>Ada Hamosh - updated : 11/8/2005<br>Patricia A. Hartz - updated : 2/17/2005<br>Stylianos E. Antonarakis - updated : 1/10/2005<br>Dawn Watkins-Chow - updated : 10/31/2002<br>Patricia A. Hartz - updated : 10/8/2002<br>Ada Hamosh - updated : 5/22/2000<br>Ada Hamosh - updated : 1/16/1998<br>Ethylin Wang Jabs - updated : 1/5/1998<br>Victor A. McKusick - updated : 11/14/1997<br>Mark H. Paalman - updated : 12/3/1996
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</span>
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Creation Date:
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<span class="mim-text-font">
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Moyra Smith : 8/8/1996
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<span class="mim-text-font">
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mgross : 11/19/2024
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<div class="row collapse" id="mimCollapseEditHistory">
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<span class="mim-text-font">
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carol : 08/15/2018<br>mgross : 12/15/2017<br>carol : 08/11/2016<br>mgross : 01/07/2016<br>carol : 5/22/2015<br>alopez : 4/24/2015<br>ckniffin : 4/22/2015<br>carol : 3/19/2013<br>wwang : 8/11/2010<br>terry : 8/6/2010<br>terry : 9/4/2009<br>mgross : 6/25/2008<br>terry : 6/23/2008<br>alopez : 6/29/2007<br>alopez : 6/29/2007<br>terry : 6/26/2007<br>mgross : 1/3/2007<br>mgross : 1/3/2007<br>alopez : 11/8/2005<br>terry : 11/8/2005<br>ckniffin : 7/1/2005<br>terry : 4/5/2005<br>mgross : 2/17/2005<br>mgross : 2/17/2005<br>mgross : 1/10/2005<br>carol : 11/4/2002<br>tkritzer : 11/1/2002<br>tkritzer : 10/31/2002<br>mgross : 10/8/2002<br>joanna : 10/1/2002<br>alopez : 5/31/2000<br>terry : 5/22/2000<br>terry : 12/1/1999<br>carol : 11/4/1999<br>carol : 11/1/1999<br>carol : 9/3/1999<br>carol : 6/16/1998<br>alopez : 1/21/1998<br>alopez : 1/21/1998<br>mark : 1/19/1998<br>mark : 1/19/1998<br>alopez : 1/16/1998<br>mark : 12/5/1997<br>terry : 11/14/1997<br>mark : 6/10/1997<br>mark : 3/26/1997<br>mark : 1/2/1997<br>terry : 12/5/1996<br>mark : 12/3/1996<br>mark : 8/10/1996<br>mark : 8/9/1996<br>mark : 8/9/1996
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<span class="mim-font">
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<strong>*</strong> 601365
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<h3>
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DISHEVELLED 1; DVL1
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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DSH, DROSOPHILA, HOMOLOG OF, 1; DVL
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<strong><em>HGNC Approved Gene Symbol: DVL1</em></strong>
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<strong>
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<em>
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Cytogenetic location: 1p36.33
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Genomic coordinates <span class="small">(GRCh38)</span> : 1:1,335,278-1,349,418 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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<h4>
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<strong>Gene-Phenotype Relationships</strong>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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1p36.33
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</span>
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</td>
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<td>
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<span class="mim-font">
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Robinow syndrome, autosomal dominant 2
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</span>
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</td>
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<td>
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<span class="mim-font">
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616331
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The DVL1 gene encodes dishevelled-1, a member of a family of intracellular scaffolding proteins that act downstream of transmembrane WNT (164820) receptors. The Drosophila dishevelled gene (dsh) encodes a cytoplasmic phosphoprotein (Klingensmith et al., 1994) that regulates cell proliferation, acting as a transducer molecule for developmental processes, including segmentation and neuroblast specification. Pizzuti et al. (1996) noted that dsh is required for the function of the wingless gene product wg, a segment polarity gene homologous to the mammalian protooncogene WNT1. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Pizzuti et al. (1996) used oligonucleotides corresponding to the mouse dishevelled homolog (Dvl1) to isolate cDNA clones from a human fetal brain cDNA library and human adult caudate cDNA library. One human cDNA clone, designated DVL1 by them, encodes a 670-amino acid polypeptide that had 92% overall identity to the mouse Dvl1 protein (99% homology in the N-terminal half and 84% identity in the C-terminal half). By Northern blot analysis of poly(A) mRNA Pizzuti et al. (1996) observed a transcription product of approximately 2.9 kb with maximal expression in adult skeletal muscle and pancreas and abundant expression in heart muscle relative to a control transcript. Detectable levels were also found in adult brain, placenta, lung, liver, and kidney. The same expression patterns were found in fetal tissues. DVL1 expression was detected in the human neural tube (particularly in the dorsal portions) by in situ hybridization. DVL1 shares approximately 64% amino acid identity with DVL3 (601368). Pizzuti et al. (1996) concluded that the high level of homology in the N-terminal regions of these proteins indicates that the N-terminal regions encode essential domains for the whole class of dishevelled proteins, while the sequence divergence in the C-terminal half suggests that these regions contain domains which are responsible for specific single-molecule (i.e., DVL1 or DVL3) activity. They noted that 1 domain of DVL1 shows homology to the Drosophila discs large tumor suppressor gene dgl1 (601014). </p><p>Semenov and Snyder (1997) cloned and characterized 3 human homologs of dishevelled, thereby showing that these genes form a multigene family in humans. The cDNA sequence of DVL1 reported by Semenov and Snyder (1997) differs from that previously reported by Pizzuti et al. (1996). They also demonstrated that one of the human dishevelled homologs, DVL2 (602151), is a phosphoprotein, raising the possibility that the mechanisms of dishevelled function in Wnt signaling are likely to be conserved among metazoans. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Wallingford et al. (2000) used time-lapse confocal microscopy to demonstrate that the failure of cells lacking Xenopus dishevelled function to undergo convergent extension results from defects in cell polarity. Furthermore, Xenopus dishevelled mutations that inhibit convergent extension correspond to mutations in Drosophila dishevelled that selectively perturb planar cell polarity. Wallingford et al. (2000) concluded that polarized cell behavior is essential for convergent extension and is controlled by vertebrate dishevelled. Thus, a vertebrate equivalent of the Drosophila planar cell polarity signaling cascade may be required for normal gastrulation. </p><p>Luo et al. (2002) found that Dvl1 interacted with Musk (601296) in a mouse muscle cell line and in HEK293 cells transfected with mouse constructs. They determined that Dvl1 was expressed at a high level during development of embryonic mouse skeletal muscle, in a pattern that was similar to that of Musk, but expression decreased as development progressed. They further demonstrated that the Musk-Dvl1 interaction regulated acetylcholine receptor (see 100690) clustering stimulated by agrin (103320), and a mutant form of Dvl that did not interact with Musk inhibited the ability of agrin to induce receptor clustering. </p><p>From results of coimmunoprecipitation experiments, confocal microscopy analysis, and study of deletion mutants, Park and Moon (2002) concluded that the Dsh protein interacts with stbm, the zebrafish and Xenopus homolog of VANGL2 (600533). </p><p>Rosso et al. (2005) examined expression of endogenous Dvl1 in mouse hippocampal neurons and found Dvl1 localized in dendrites and axons, where it was associated with microtubules, and accumulated in actin-rich regions. Overexpression of Dvl1 increased dendritic branching in cultured hippocampal neurons, similar to the effect of Wnt7b (601967) overexpression, and branching was blocked by Sfrp1 (604156), a secreted Wnt antagonist. Conversely, hippocampal neurons from mice lacking Dvl1 showed reduced dendritic arborization. Analysis of downstream events showed that Wnt7b and Dvl1 regulate dendritic development through a noncanonical Wnt pathway by activating Rac (see 602048) and JNK (see 601158). </p><p>Dollar et al. (2005) demonstrated that a vertebrate homolog of Lgl (600966) associates with dishevelled, an essential mediator of Wnt signaling, and that dishevelled regulates the localization of Lgl in Xenopus ectoderm and Drosophila follicular epithelium. Dollar et al. (2005) showed that both Lgl and Dsh are required for normal apical-basal polarity of Xenopus ectodermal cells. In addition, Dollar et al. (2005) showed that the Wnt receptor frizzled-8 (606146), but not frizzled-7 (603410), causes Lgl to dissociate from the cortex with the concomitant loss of its activity in vivo. Dollar et al. (2005) concluded that their findings suggest a molecular basis for the regulation of cell polarity by frizzled and dishevelled. </p><p>Park et al. (2006) identified Dsh and Frodo (DACT1; 607861) as upstream regulators of the p120-catenin (CTNND1; 601045)/Kaiso (300329) signaling pathway in Xenopus. </p><p>Using live imaging of vertebrate cells, Bilic et al. (2007) demonstrated that the scaffold protein dishevelled (DVL) is required for LRP6 (603507) phosphorylation and aggregation following WNT treatment. Bilic et al. (2007) proposed that WNTs induce coclustering of receptors and DVL in LRP6 signalosomes, which in turn triggers LRP6 phosphorylation to promote Axin (603816) recruitment and beta-catenin (see 116806) stabilization. </p><p>Zhang et al. (2007) found that downregulation of Dvl abrogated axon differentiation in cultured embryonic rat hippocampal neurons, whereas overexpression of Dvl resulted in multiple axon formation. A complex of PAR3 (PARD3; 606745), PAR6 (PARD6A; 607484), and an atypical protein kinase C (aPKC), such as PKC-zeta (PRKCZ; 176982), is required for axon-dendrite differentiation, and Zhang et al. (2007) found that Dvl associated with Pkc-zeta in rat brain and transfected human embryonic kidney cells. The interaction of Dvl with Pkc-zeta resulted in stabilization and activation of Pkc-zeta. Expression of dominant-negative Pkc-zeta attenuated multiple axon formation due to Dvl overexpression in neurons, and overexpression of Pkc-zeta prevented axon loss due to Dvl downregulation. Wnt5a (164975), a noncanonical Wnt, activated Pkc-zeta and promoted axon differentiation, and downregulation of Dvl or inhibition of Pkc-zeta attenuated the Wnt5a effect on axon differentiation. Zhang et al. (2007) concluded that WNT5A and DVL promote axon differentiation mediated by the PAR3-PAR6-aPKC complex. </p><p>By knockout analysis in MDCK cells, Elbert et al. (2006) demonstrated that Par1b (MARK2; 600526) promoted cell-cell adhesion. Dvl1 overexpression phenocopied Par1b knockdown in polarizing MDCK cells, and Par1b overexpression antagonized Dvl1-mediated disruption of cell-cell adhesion and polarization. In vitro analysis showed that Par1b phosphorylated Dvl1 on 2 sites, but the Dvl1 phenotype was independent of Par1b-mediated Dvl1 phosphorylation. Moreover, the morphogenetic effects of Dvl1 were not mediated by canonical or planar polarity Wnt pathways. Instead, Par1b antagonized Dvl1 by promoting interaction of E-cadherin (CDH1; 192090) with the actin cytoskeleton. </p><p>Mutations in the LRRK2 gene (609007) are the most common known cause of Parkinson disease (see PARK8; 607060). Sancho et al. (2009) reported interaction of LRRK2 with the dishevelled family of phosphoproteins DVL1, DVL2 (602151), and DVL3 (601368). The LRRK2 Roc-COR domain and the DVL1 DEP domain were necessary and sufficient for LRRK2-DVL1 interaction. Coexpression of DVL1 increased LRRK2 steady-state protein levels, an effect that was dependent on the DEP domain. LRRK2-DVL1-3 interactions were disrupted by the familial LRRK2 Y1699C mutation (609007.0002), whereas pathogenic mutations at residues arg1441 (see, e.g., 609007.0001) and arg1728 strengthened LRRK2-DVL1 interactions. Coexpression of DVL1 with LRRK2 in mammalian cells resulted in the redistribution of LRRK2 to typical cytoplasmic DVL1 aggregates in HEK293 and SH-SY5Y cells and colocalization in neurites and growth cones of differentiated dopaminergic SH-SY5Y cells. Since the DVL1 DEP domain is known to be involved in the regulation of small GTPases, Sancho et al. (2009) proposed that DVLs may influence LRRK2 GTPase activity, and that Roc-COR domain mutations modulating LRRK2-DVL interactions indirectly influence kinase activity. </p><p>Using nuclear magnetic resonance and fluorescence spectroscopy, Lee et al. (2010) confirmed direct interaction between the isolated C-terminal PDZ-binding domain of human TMEM88 (617813) and recombinant mouse Dvl1. Overexpression of TMEM88 in HEK293 cells attenuated WNT1-induced expression of a reporter gene in a dose-dependent manner and required the C-terminal PDZ-binding VWV motif of TMEM88. Conversely, knockdown of TMEM88 via RNA interference elevated Wnt signaling. In Xenopus larvae animal cap explants, human TMEM88 localized to cell membranes and inhibited Wnt signaling induced by Xenopus Dsh but not by beta-catenin. When coinjected, TMEM88 recruited fluorescence-tagged Dsh to cell membranes. Expression of human TMEM88 also inhibited secondary axis formation induced in Xenopus larvae by overexpressed Dsh. Since membrane-bound frizzled receptor (FZ; see 603408) promotes Wnt signaling by binding to the PDZ domain of DVL, Lee et al. (2010) hypothesized that TMEM88 counters Wnt signaling by inhibiting FZ-DVL interaction. </p><p>Shafer et al. (2011) found that both Dvl1 and Vangl2 were required for Wnt5a-stimulated outgrowth and anterior-posterior guidance of embryonic mouse and rat commissural axons. Dvl1 inhibited PCP signaling by increasing hyperphosphorylation of Frizzled-3 (FZD3; 606143), preventing its internalization. Vangl2 antagonized Fzd3 phosphorylation and promoted its internalization. In rat commissural axon growth cones, Vangl2 predominantly localized on the plasma membrane and was highly enriched on tips of filopodia, as well as in patches of membrane where new filopodia emerged. Shafer et al. (2011) proposed that the antagonistic functions of VANGL2 and DVL3 on FZD3 hyperphosphorylation and endocytosis sharpen PCP signaling at the tips of filopodia to sense directional Wnt signaling to cause turning of growth cones. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By analysis of a panel of rodent-human somatic cell hybrids by PCR with primers for the DVL1 3-prime untranslated region, Pizzuti et al. (1996) mapped the DVL1 gene to human chromosome 1. They used fluorescence in situ hybridization with cloned cDNAs to map the DVL1 gene to chromosome 1p36. Pizzuti et al. (1996) noted that the region of DVL1 that shows homology to the Drosophila tumor suppressor gene dgl1, as well as its possible role as a neural differentiation factor, would make it a candidate gene for neuroblastomatous transformation (see also 256700, the 1p36-linked neuroblastoma locus). The Schwartz-Jampel syndrome (255800) has been mapped to chromosome 1p36-p34 and Pizzuti et al. (1996) suggested that the phenotype of this disease is consistent with defects which might be expected from aberrant expression of a DVL gene during development. They noted also that Charcot-Marie-Tooth disease type 2A (118210) has been mapped to 1p36-1p35 and that the main pathologic feature of this disorder is a motor neuron axonal degeneration. See also the dishevelled-like locus that maps to the DiGeorge critical region on chromosome 22q11 (601225). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cytogenetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Bedell et al. (1996) characterized the region of deletion in a patient with the 1p36 deletion syndrome (607872) whose karyotype was 46,XY, del(1)(p36.3). They identified the dishevelled gene within the deleted region. The authors speculated that this gene may play a role in the pathogenesis of the observed syndrome through haploinsufficiency or through genomic imprinting, which had been reported previously for this region of chromosome 1 by Caron et al. (1995). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In 8 patients, including a pair of monozygotic twins, with autosomal dominant Robinow syndrome-2 (DRS2; 616331), White et al. (2015) identified 6 different de novo heterozygous truncating mutations in the DVL1 gene (see, e.g., 601365.0001-601365.0004). Mutations in the first 3 patients were found by whole-exome sequencing; subsequent patients were identified from a cohort of 62 additional individuals with a similar phenotype who underwent targeted sequencing of the DVL1 gene. Functional studies of the variants were not performed, but studies of 2 patients' cells showed that the truncated proteins were expressed. </p><p>In 3 unrelated patients with DRS2, Bunn et al. (2015) identified 3 different heterozygous mutations in the DVL1 gene (601365.0004-610365.0006), all of which resulted in premature termination of the protein and addition of an abnormal highly basic C-terminal sequence. Analysis of cells from 1 of the patients showed that the mutation (c.1519del; 601365.0004) was translated into a stable protein and not degraded by nonsense-mediated mRNA decay. In vitro cellular expression studies showed that cotransfection of the mutation with wildtype DVL1 resulted in increased canonical WNT activity. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Evolution</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Human evolution is characterized by a dramatic increase in brain size and complexity. To probe its genetic basis, Dorus et al. (2004) examined the evolution of genes involved in diverse aspects of nervous system biology. These genes, including DVL1, displayed significantly higher rates of protein evolution in primates than in rodents. This trend was most pronounced for the subset of genes implicated in nervous system development. Moreover, within primates, the acceleration of protein evolution was most prominent in the lineage leading from ancestral primates to humans. Dorus et al. (2004) concluded that the phenotypic evolution of the human nervous system has a salient molecular correlate, i.e., accelerated evolution of the underlying genes, particularly those linked to nervous system development. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Lijam et al. (1997) created Dvl1-null mice by gene targeting. Dvl1-deficient mice are viable, fertile, and structurally normal. However, these mice exhibited reduced social interaction, manifested as decreased whisker trimming, deficits in nest building, less huddling contact during sleep, and subordinate responses in a social dominance test. Sensorimotor gating was abnormal, as measured by deficits in prepulse inhibition of acoustic and tactile startle. Since reduced social interaction and abnormal sensorimotor gating are features of several human neuropsychiatric disorders, including schizophrenia, Lijam et al. (1997) suggested that Dvl1-deficient mice may provide a model for aspects of these disorders. Lijam et al. (1997) concluded that these results were consistent with an interpretation that common genetic mechanisms underlie abnormal social behavior and implicated Dvl1 in processes underlying complex behaviors. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>6 Selected Examples):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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DVL1, 13-BP DEL, NT1505
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<br />
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SNP: rs797044834,
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ClinVar: RCV000193850
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In 2 unrelated patients (BAB4878 and 016462) with autosomal dominant Robinow syndrome-2 (DRS2; 616331), White et al. (2015) identified a de novo heterozygous 13-bp deletion (c.1505_1517del, NM_004421.2) in exon 14 of the DVL1 gene, resulting in a frameshift and premature termination (His502ProfsTer143). The mutation in the first patient was found by whole-exome sequencing and confirmed by Sanger sequencing. The second patient was identified from a cohort of 62 additional individuals with a similar phenotype who underwent targeted sequencing of the DVL1 gene. The mutation was not found in publicly available databases or in an in-house database. Functional studies of the variant were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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DVL1, 2-BP DEL/1-BP INS, NT1570
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<br />
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SNP: rs797044833,
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ClinVar: RCV000192810
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient (BAB4073) with autosomal dominant Robinow syndrome-2 (DRS2; 616331), White et al. (2015) identified a de novo heterozygous deletion (TT)/insertion (C) mutation (c.1570_1571delins, NM_004421.2) in exon 14 of the DVL1 gene, resulting in a frameshift and premature termination (Phe524ProfsTer125). The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing. RT-PCR analysis of patient cells showed that the mutation escaped nonsense-mediated mRNA decay and that the truncated protein was expressed. The mutation was not found in publicly available databases or in an in-house database. Functional studies of the variant were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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DVL1, 1-BP DEL, 1508C
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<br />
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SNP: rs797044836,
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ClinVar: RCV000192930
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a pair of monozygotic twins (016516 and 016517) with autosomal dominant Robinow syndrome-2 (DRS2; 616331) originally reported by Saraiva et al. (1999), White et al. (2015) identified a de novo heterozygous 1-bp deletion of a C nucleotide (c.1508del, NM_004421.2) in exon 14 of the DVL1 gene, resulting in a frameshift and premature termination (Pro503ArgfsTer146). The mutation was not found in publicly available databases or in an in-house database. Functional studies of the variant were not performed. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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DVL1, 1-BP DEL, 1519T
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<br />
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SNP: rs797044835,
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ClinVar: RCV000195250, RCV003223617
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 6-year-old boy (patient BAB5264) with autosomal dominant Robinow syndrome-2 (DRS2; 616331), White et al. (2015) identified heterozygosity for a 1-bp deletion of a T nucleotide at nucleotide 1519 in exon 14 of the DVL1 gene (c.1519del, NM_004421.2). The deletion, identified by whole-exome sequencing, resulted in a frameshift and premature termination of the protein (Trp507GlyfsTer142). Bunn et al. (2015) detected this mutation in a patient originally reported by Bunn et al. (2014) (patient 1 in both studies) and showed it to occur de novo in their patient. Bunn et al. (2015) found the mutation by whole-exome sequencing and validated it by Sanger sequencing; it was not found in the Exome Variant Server (ESP6500) database or in 400 in-house control exomes. Analysis of cells from the patient showed that the mutation was translated into a stable protein and not degraded by nonsense-mediated mRNA decay. In vitro cellular expression studies showed that cotransfection of the mutation with wildtype DVL1 resulted in increased canonical WNT activity. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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DVL1, 1-BP DEL, NT1562
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<br />
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SNP: rs797044839,
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ClinVar: RCV000193267, RCV002247612
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient with autosomal dominant Robinow syndrome-2 (DRS2; 616331) originally reported by Bunn et al. (2014) (patient 2 in both reports), Bunn et al. (2015) identified a de novo heterozygous 1-bp deletion (c.1562del, NM_004421.2) in exon 14 of the DVL1 gene, resulting in a frameshift and premature termination (Pro521HisfsTer128). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0006 ROBINOW SYNDROME, AUTOSOMAL DOMINANT 2</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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DVL1, 8-BP DEL/1-BP INS, NT1576
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<br />
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SNP: rs797044840,
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ClinVar: RCV000194315
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient (patient 3) with autosomal dominant Robinow syndrome-2 (DRS2; 616331) originally reported by Eijkenboom et al. (2012), Bunn et al. (2015) identified a de novo heterozygous del/ins mutation (c.1576_1583delinsG, NM_004421.2) in exon 14 of the DVL1 gene, resulting in a frameshift and premature termination (Pro526AlafsTer121). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<strong>DVL1 frameshift mutations clustering in the penultimate exon cause autosomal dominant Robinow syndrome.</strong>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
|
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
|
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Contributors:
|
|
</span>
|
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Bao Lige - updated : 11/19/2024<br>Patricia A. Hartz - updated : 12/15/2017<br>Patricia A. Hartz - updated : 01/07/2016<br>Cassandra L. Kniffin - updated : 4/22/2015<br>George E. Tiller - updated : 8/6/2010<br>Patricia A. Hartz - updated : 6/23/2008<br>Ada Hamosh - updated : 6/26/2007<br>Patricia A. Hartz - updated : 1/3/2007<br>Ada Hamosh - updated : 11/8/2005<br>Patricia A. Hartz - updated : 2/17/2005<br>Stylianos E. Antonarakis - updated : 1/10/2005<br>Dawn Watkins-Chow - updated : 10/31/2002<br>Patricia A. Hartz - updated : 10/8/2002<br>Ada Hamosh - updated : 5/22/2000<br>Ada Hamosh - updated : 1/16/1998<br>Ethylin Wang Jabs - updated : 1/5/1998<br>Victor A. McKusick - updated : 11/14/1997<br>Mark H. Paalman - updated : 12/3/1996
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