3170 lines
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- *602748 - DUAL-SPECIFICITY PHOSPHATASE 6; DUSP6
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- OMIM
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<p>
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<span class="h4">*602748</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<li role="presentation">
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/602748">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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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div 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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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000139318;t=ENST00000279488" 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=1848" 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=602748" 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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<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=ENSG00000139318;t=ENST00000279488" 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_001946,NM_022652" 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_001946" 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=602748" 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=04124&isoform_id=04124_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/DUSP6" 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/1418934,3345678,3345684,3869140,13097714,13111943,13477171,22713611,30582629,42764683,42764687,51773778,62897323,108860971,119617828,119617829,119617830,197692231,197692487,311461944" 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/Q16828" 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=1848" 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=ENSG00000139318;t=ENST00000279488" 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=DUSP6" 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=DUSP6" 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+1848" 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/DUSP6" 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:1848" 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/1848" 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=chr12&hgg_gene=ENST00000279488.8&hgg_start=89347235&hgg_end=89352501&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=602748[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=602748[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000139318" 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=DUSP6" 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=DUSP6" 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=DUSP6" 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=DUSP6&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/PA27529" 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:3072" 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/FBgn0036844.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:1914853" 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/DUSP6#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:1914853" 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/1848/ortholog/" class="mim-tip-hint" title="Orthologous genes at NCBI." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Orthologs', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Orthologs</a></div>
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<div><a href="https://www.orthodb.org/?ncbi=1848" 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="https://wormbase.org/db/gene/gene?name=WBGene00003043;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030613-1" 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:1848" 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=DUSP6&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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602748
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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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DUAL-SPECIFICITY PHOSPHATASE 6; DUSP6
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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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MAP KINASE PHOSPHATASE 3; MKP3<br />
|
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PYST1
|
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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=DUSP6" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">DUSP6</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/12/669?start=-3&limit=10&highlight=669">12q21.33</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr12:89347235-89352501&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'})">12:89,347,235-89,352,501</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>
|
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<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/12/669?start=-3&limit=10&highlight=669">
|
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12q21.33
|
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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">
|
|
Hypogonadotropic hypogonadism 19 with or without anosmia
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/615269"> 615269 </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/602748" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/602748" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></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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<a id="text" class="mim-anchor"></a>
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<h4>
|
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|
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
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</span>
|
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</span>
|
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
|
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<strong>Description</strong>
|
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<p>Dual-specificity phosphatases (DUSPs) constitute a large heterogeneous subgroup of the type I cysteine-based protein-tyrosine phosphatase superfamily. DUSPs are characterized by their ability to dephosphorylate both tyrosine and serine/threonine residues. DUSP6 belongs to a class of DUSPs, designated MKPs, that dephosphorylate MAPK (mitogen-activated protein kinase) proteins ERK (see <a href="/entry/601795">601795</a>), JNK (see <a href="/entry/601158">601158</a>), and p38 (see <a href="/entry/600289">600289</a>) with specificity distinct from that of individual MKP proteins. MKPs contain a highly conserved C-terminal catalytic domain and an N-terminal Cdc25 (see <a href="/entry/116947">116947</a>)-like (CH2) domain. MAPK activation cascades mediate various physiologic processes, including cellular proliferation, apoptosis, differentiation, and stress responses (summary by <a href="#6" class="mim-tip-reference" title="Patterson, K. I., Brummer, T., O'Brien, P. M., Daly, R. J. <strong>Dual-specificity phosphatases: critical regulators with diverse cellular targets.</strong> Biochem. J. 418: 475-489, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19228121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19228121</a>] [<a href="https://doi.org/10.1042/bj20082234" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19228121">Patterson et al., 2009</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19228121" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Muda, M., Boschert, U., Dickinson, R., Martinou, J.-C., Martinou, I., Camps, M., Schlegel, W., Arkinstall, S. <strong>MKP-3, a novel cytosolic protein-tyrosine phosphatase that exemplifies a new class of mitogen-activated protein kinase phosphatase.</strong> J. Biol. Chem. 271: 4319-4326, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8626780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8626780</a>] [<a href="https://doi.org/10.1074/jbc.271.8.4319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8626780">Muda et al. (1996)</a> identified rat superior cervical ganglion cDNAs encoding 2 dual-specificity phosphatases that they designated MKP3 and MKPX (DUSP7; <a href="/entry/602749">602749</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8626780" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Groom, L. A., Sneddon, A. A., Alessi, D. R., Dowd, S., Keyse, S. M. <strong>Differential regulation of the MAP, SAP and RK/p38 kinases by Pyst1, a novel cytosolic dual-specificity phosphatase.</strong> EMBO J. 15: 3621-3632, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8670865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8670865</a>]" pmid="8670865">Groom et al. (1996)</a> identified cDNAs encoding the human MKP3 and MKPX homologs, which they called PYST1 and PYST2, respectively. Like other dual-specificity phosphatases, the N-terminal region of the predicted 381-amino acid PYST1 protein has 2 domains with significant homology to CDC25 (<a href="/entry/157680">157680</a>). Northern blot analysis revealed that PYST1 is expressed as a 3-kb mRNA in a variety of tissues, with the highest levels in heart and pancreas. By immunofluorescence of mammalian cells expressing epitope-tagged PYST1, <a href="#2" class="mim-tip-reference" title="Groom, L. A., Sneddon, A. A., Alessi, D. R., Dowd, S., Keyse, S. M. <strong>Differential regulation of the MAP, SAP and RK/p38 kinases by Pyst1, a novel cytosolic dual-specificity phosphatase.</strong> EMBO J. 15: 3621-3632, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8670865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8670865</a>]" pmid="8670865">Groom et al. (1996)</a> showed that the protein is localized to the cytoplasm. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8670865" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By RT-PCR, <a href="#1" class="mim-tip-reference" title="Furukawa, T., Yatsuoka, T., Youssef, E. M., Abe, T., Yokoyama, T., Fukushige, S., Soeda, E., Hoshi, M., Hayashi, Y., Sunamura, M., Kobari, M., Horii, A. <strong>Genomic analysis of DUSP6, a dual specificity MAP kinase phosphatase, in pancreatic cancer.</strong> Cytogenet. Cell Genet. 82: 156-159, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9858808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9858808</a>] [<a href="https://doi.org/10.1159/000015091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9858808">Furukawa et al. (1998)</a> found that DUSP6 was expressed as 2 differently sized transcripts in all tissues tested. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9858808" 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="Furukawa, T., Yatsuoka, T., Youssef, E. M., Abe, T., Yokoyama, T., Fukushige, S., Soeda, E., Hoshi, M., Hayashi, Y., Sunamura, M., Kobari, M., Horii, A. <strong>Genomic analysis of DUSP6, a dual specificity MAP kinase phosphatase, in pancreatic cancer.</strong> Cytogenet. Cell Genet. 82: 156-159, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9858808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9858808</a>] [<a href="https://doi.org/10.1159/000015091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9858808">Furukawa et al. (1998)</a> determined that the DUSP6 gene contains 3 exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9858808" 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 somatic cell hybrids and fluorescence in situ hybridization (FISH), <a href="#9" class="mim-tip-reference" title="Smith, A., Price, C., Cullen, M., Muda, M., King, A., Ozanne, B., Arkinstall, S., Ashworth, A. <strong>Chromosomal localization of three human dual specificity phosphatase genes (DUSP4, DUSP6, and DUSP7).</strong> Genomics 42: 524-527, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9205128/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9205128</a>] [<a href="https://doi.org/10.1006/geno.1997.4756" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9205128">Smith et al. (1997)</a> mapped the DUSP6 gene to 12q22-q23. By FISH, <a href="#1" class="mim-tip-reference" title="Furukawa, T., Yatsuoka, T., Youssef, E. M., Abe, T., Yokoyama, T., Fukushige, S., Soeda, E., Hoshi, M., Hayashi, Y., Sunamura, M., Kobari, M., Horii, A. <strong>Genomic analysis of DUSP6, a dual specificity MAP kinase phosphatase, in pancreatic cancer.</strong> Cytogenet. Cell Genet. 82: 156-159, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9858808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9858808</a>] [<a href="https://doi.org/10.1159/000015091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9858808">Furukawa et al. (1998)</a> localized the gene to 12q21. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9205128+9858808" 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 Northern blot analysis, <a href="#5" class="mim-tip-reference" title="Muda, M., Boschert, U., Dickinson, R., Martinou, J.-C., Martinou, I., Camps, M., Schlegel, W., Arkinstall, S. <strong>MKP-3, a novel cytosolic protein-tyrosine phosphatase that exemplifies a new class of mitogen-activated protein kinase phosphatase.</strong> J. Biol. Chem. 271: 4319-4326, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8626780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8626780</a>] [<a href="https://doi.org/10.1074/jbc.271.8.4319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8626780">Muda et al. (1996)</a> found that nerve growth factor (see <a href="/entry/162030">162030</a>) induced MKP3 expression in PC12 cells. By in situ hybridization, <a href="#5" class="mim-tip-reference" title="Muda, M., Boschert, U., Dickinson, R., Martinou, J.-C., Martinou, I., Camps, M., Schlegel, W., Arkinstall, S. <strong>MKP-3, a novel cytosolic protein-tyrosine phosphatase that exemplifies a new class of mitogen-activated protein kinase phosphatase.</strong> J. Biol. Chem. 271: 4319-4326, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8626780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8626780</a>] [<a href="https://doi.org/10.1074/jbc.271.8.4319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8626780">Muda et al. (1996)</a> showed that metrazole-stimulated seizure activity induced MKP3 expression, rapidly and transiently, in specific regions of the brain. When expressed in mammalian cells, MKP3 blocked both the phosphorylation and enzymatic activation of the MAP kinase ERK2 (<a href="/entry/176948">176948</a>) by mitogens. <a href="#5" class="mim-tip-reference" title="Muda, M., Boschert, U., Dickinson, R., Martinou, J.-C., Martinou, I., Camps, M., Schlegel, W., Arkinstall, S. <strong>MKP-3, a novel cytosolic protein-tyrosine phosphatase that exemplifies a new class of mitogen-activated protein kinase phosphatase.</strong> J. Biol. Chem. 271: 4319-4326, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8626780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8626780</a>] [<a href="https://doi.org/10.1074/jbc.271.8.4319" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8626780">Muda et al. (1996)</a> concluded that MKP3 may play an important and specific role in regulating MAP kinase activities. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8626780" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#2" class="mim-tip-reference" title="Groom, L. A., Sneddon, A. A., Alessi, D. R., Dowd, S., Keyse, S. M. <strong>Differential regulation of the MAP, SAP and RK/p38 kinases by Pyst1, a novel cytosolic dual-specificity phosphatase.</strong> EMBO J. 15: 3621-3632, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8670865/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8670865</a>]" pmid="8670865">Groom et al. (1996)</a> found that PYST1 dephosphorylated and inactivated MAP kinase in vitro and in vivo, but displayed very low activity towards the related stress-activated protein kinases (SAPKs; see <a href="/entry/601158">601158</a>). When expressed in mammalian cells, PYST1 formed a physical complex with endogenous MAP kinase. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8670865" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#1" class="mim-tip-reference" title="Furukawa, T., Yatsuoka, T., Youssef, E. M., Abe, T., Yokoyama, T., Fukushige, S., Soeda, E., Hoshi, M., Hayashi, Y., Sunamura, M., Kobari, M., Horii, A. <strong>Genomic analysis of DUSP6, a dual specificity MAP kinase phosphatase, in pancreatic cancer.</strong> Cytogenet. Cell Genet. 82: 156-159, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9858808/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9858808</a>] [<a href="https://doi.org/10.1159/000015091" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9858808">Furukawa et al. (1998)</a> found decreased expression of DUSP6 in a subset of pancreatic cancer cell lines. <a href="#11" class="mim-tip-reference" title="Xu, S., Furukawa, T., Kanai, N., Sunamura, M., Horii, A. <strong>Abrogation of DUSP6 by hypermethylation in human pancreatic cancer.</strong> J. Hum. Genet. 50: 159-167, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15824892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15824892</a>] [<a href="https://doi.org/10.1007/s10038-005-0235-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15824892">Xu et al. (2005)</a> determined that transcriptional suppression of DUSP6 in a subset of human pancreatic cancer cell lines was due to hypermethylation of CpG islands in intron 1. Among 12 cancer cell lines, methylation was detected in 5 of 8 cases with abolished expression of DUSP6, 4 of which were poorly differentiated adenocarcinoma. None of the 4 cases with preserved expression of DUSP6 showed methylation. The methylation state correlated with both the abolishment of protein expression and the histologic cancer subtype. <a href="#11" class="mim-tip-reference" title="Xu, S., Furukawa, T., Kanai, N., Sunamura, M., Horii, A. <strong>Abrogation of DUSP6 by hypermethylation in human pancreatic cancer.</strong> J. Hum. Genet. 50: 159-167, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15824892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15824892</a>] [<a href="https://doi.org/10.1007/s10038-005-0235-y" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15824892">Xu et al. (2005)</a> suggested that DUSP6 acts as a tumor suppressor. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9858808+15824892" 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 whole-genome analysis and RNA sequencing, <a href="#10" class="mim-tip-reference" title="Vo, A. H., Swaggart, K. A., Woo, A., Gao, Q. Q., Demonbreun, A. R., Fallon, K. S., Quattrocelli, M., Hadhazy, M., Page, P. G. T., Chen, Z., Eskin, A., Squire, K., Nelson, S. F., McNally, E. M. <strong>Dusp6 is a genetic modifier of growth through enhanced ERK activity.</strong> Hum. Molec. Genet. 28: 279-289, 2019.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30289454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30289454</a>] [<a href="https://doi.org/10.1093/hmg/ddy349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30289454">Vo et al. (2019)</a> identified Dusp6 as a genetic modifier of muscular dystrophy in the Sgcg (<a href="/entry/608896">608896</a>)-null D2 mouse strain. Dusp6 from the D2 mouse strain had a met62-to-ile (M62I) variant that was not present in other strains. The M62I change did not alter cytoplasmic localization of Dusp6 or overall expression of Dusp6 in C2C12 cells, but pull-down assays showed that M62I reduced the ability of Dusp6 to interact with Erk2, resulting in increased Erk1/Erk2 phosphorylation and activity. Inhibition of Dusp6 in myoblasts from different mouse strains resulted in dose-dependent increases in cell proliferation, whereas Dusp6 inhibition had little effect in D2 mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30289454" 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 5 unrelated individuals with congenital hypogonadotropic hypogonadism (HH19; <a href="/entry/615269">615269</a>), <a href="#4" class="mim-tip-reference" title="Miraoui, H., Dwyer, A. A., Sykiotis, G. P., Plummer, L., Chung, W., Feng, B., Beenken, A., Clarke, J., Pers, T. H., Dworzynski, P., Keefe, K., Niedziela, M., and 17 others. <strong>Mutations in FGF17, IL17RD, DUPS6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.</strong> Am. J. Hum. Genet. 92: 725-743, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23643382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23643382</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23643382[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.2013.04.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23643382">Miraoui et al. (2013)</a> identified heterozygosity for missense mutations in the DUSP6 gene (<a href="#0001">602748.0001</a>-<a href="#0004">602748.0004</a>). In 3 of the probands, the DUSP6 mutation was accompanied by a heterozygous missense mutation in another HH-associated gene, either FGFR1 (<a href="/entry/136350#0028">136350.0028</a>) and SPRY4 (<a href="/entry/607984#0001">607984.0001</a> and <a href="/entry/607984#0003">607984.0003</a>). <a href="#4" class="mim-tip-reference" title="Miraoui, H., Dwyer, A. A., Sykiotis, G. P., Plummer, L., Chung, W., Feng, B., Beenken, A., Clarke, J., Pers, T. H., Dworzynski, P., Keefe, K., Niedziela, M., and 17 others. <strong>Mutations in FGF17, IL17RD, DUPS6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.</strong> Am. J. Hum. Genet. 92: 725-743, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23643382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23643382</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23643382[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.2013.04.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23643382">Miraoui et al. (2013)</a> concluded that mutations in genes encoding components of the FGF pathway are associated with complex modes of congenital HH (CHH) inheritance and act primarily as contributors to an oligogenic genetic architecture underlying CHH. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23643382" 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="#3" class="mim-tip-reference" title="Maillet, M., Purcell, N. H., Sargent, M. A., York, A. J., Bueno, O. F., Molkentin, J. D. <strong>DUSP6 (MKP3) null mice show enhanced ERK1/2 phosphorylation at baseline and increased myocyte proliferation in the heart affecting disease susceptibility.</strong> J. Biol. Chem. 283: 31246-31255, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18753132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18753132</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18753132[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.M806085200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18753132">Maillet et al. (2008)</a> found that Dusp6 -/- mice were viable and fertile; however, they had enlarged hearts, which was associated with higher rates of myocyte proliferation during embryonic and early postnatal development. Dusp6 -/- mice had increased basal Erk1 (<a href="/entry/601795">601795</a>)/Erk2 phosphorylation in the heart, spleen, kidney, brain, and fibroblasts, but loss of Dusp6 did not increase or prolong Erk1/Erk2 activation after stimulation. Dusp6 -/- embryonic fibroblasts also showed reduced rate of apoptosis compared with wildtype fibroblasts. Increased cardiac myocyte content in Dusp6 -/- mice was protective against cardiac injury following long-term pressure overload or experimental infarction in adult mice. <a href="#3" class="mim-tip-reference" title="Maillet, M., Purcell, N. H., Sargent, M. A., York, A. J., Bueno, O. F., Molkentin, J. D. <strong>DUSP6 (MKP3) null mice show enhanced ERK1/2 phosphorylation at baseline and increased myocyte proliferation in the heart affecting disease susceptibility.</strong> J. Biol. Chem. 283: 31246-31255, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18753132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18753132</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18753132[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.M806085200" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18753132">Maillet et al. (2008)</a> concluded that DUSP6 coordinates cellular development and survival and directly affects disease responsiveness in adulthood. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18753132" 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 studying wildtype and Mkp3 -/- mice after hindpaw surgery, <a href="#8" class="mim-tip-reference" title="Skopelja-Gardner, S., Saha, M., Alvarado-Vazquez, P. A., Liponis, B. S., Martinez, E., Romero-Sandoval, E. A. <strong>Mitogen-activated protein kinase phosphatase-3 (MKP-3) in the surgical wound is necessary for the resolution of postoperative pain in mice.</strong> J. Pain Res. 10: 763-774, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28405172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28405172</a>] [<a href="https://doi.org/10.2147/JPR.S129826" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28405172">Skopelja-Gardner et al. (2017)</a> found that mechanical allodynia resolved over a 12-day period in wildtype mice, whereas it persisted in Mkp3 -/- mice. Mkp3 -/- mice exhibited higher numbers of infiltrating inflammatory cells than wildtype mice 1 day after surgery that returned to baseline by 12 days after surgery. In both wildtype and Mkp3 -/- mice, peripheral phosphorylated p38 levels were increased at 1 and 5 days after surgery and returned to basal levels the following week. Phosphorylated Erk1/2 followed a similar course in wildtype mice, but in Mkp3 -/- mice phosphorylated Erk1/2 levels remained elevated 12 days after surgery. Hypersensitivity and Erk1/2 phosphorylation were reduced by administration of a Mek (see <a href="/entry/176872">176872</a>) inhibitor. <a href="#8" class="mim-tip-reference" title="Skopelja-Gardner, S., Saha, M., Alvarado-Vazquez, P. A., Liponis, B. S., Martinez, E., Romero-Sandoval, E. A. <strong>Mitogen-activated protein kinase phosphatase-3 (MKP-3) in the surgical wound is necessary for the resolution of postoperative pain in mice.</strong> J. Pain Res. 10: 763-774, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28405172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28405172</a>] [<a href="https://doi.org/10.2147/JPR.S129826" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="28405172">Skopelja-Gardner et al. (2017)</a> proposed that MKP3 is critical for normal resolution of acute postoperative allodynia in peripheral tissue, as they had observed previously in spine (<a href="#7" class="mim-tip-reference" title="Saha, M., Skopelja, S., Martinez, E., Alvarez, D. L., Liponis, B. S., Romero-Sandoval, E. A. <strong>Spinal mitogen-activated protein kinase phosphatase-3 (MKP-3) is necessary for the normal resolution of mechanical allodynia in a mouse model of acute postoperative pain.</strong> J. Neurosci. 33: 17182-17187, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24155322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24155322</a>] [<a href="https://doi.org/10.1523/JNEUROSCI.5605-12.2013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24155322">Saha et al., 2013</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=28405172+24155322" 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 2 patients with congenital hypogonadotropic hypogonadism (HH19; <a href="/entry/615269">615269</a>), <a href="#4" class="mim-tip-reference" title="Miraoui, H., Dwyer, A. A., Sykiotis, G. P., Plummer, L., Chung, W., Feng, B., Beenken, A., Clarke, J., Pers, T. H., Dworzynski, P., Keefe, K., Niedziela, M., and 17 others. <strong>Mutations in FGF17, IL17RD, DUPS6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.</strong> Am. J. Hum. Genet. 92: 725-743, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23643382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23643382</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23643382[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.2013.04.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23643382">Miraoui et al. (2013)</a> identified heterozygosity for a c.566A-G transition in exon 2 of the DUSP6 gene, resulting in an asn189-to-ser (N189S) substitution at a conserved residue in the link between the rhodanese and dual-specificity phosphatase domains. The mutation was not found in 155 controls or in the 1000 Genomes Project database. The male and female patients were both anosmic; the female patient, who also carried a heterozygous missense mutation in the SPRY4 gene (S241Y; <a href="/entry/607984#0002">607984.0002</a>), had low bone mass. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23643382" 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 male patient with congenital hypogonadotropic hypogonadism (HH19; <a href="/entry/615269">615269</a>), <a href="#4" class="mim-tip-reference" title="Miraoui, H., Dwyer, A. A., Sykiotis, G. P., Plummer, L., Chung, W., Feng, B., Beenken, A., Clarke, J., Pers, T. H., Dworzynski, P., Keefe, K., Niedziela, M., and 17 others. <strong>Mutations in FGF17, IL17RD, DUPS6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.</strong> Am. J. Hum. Genet. 92: 725-743, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23643382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23643382</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23643382[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.2013.04.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23643382">Miraoui et al. (2013)</a> identified heterozygosity for a c.545C-T transition in exon 2 of the DUSP6 gene, resulting in a ser182-to-phe (S182F) substitution at a highly conserved residue in the link between the rhodanese and dual-specificity phosphatase domains. The mutation was not found in 155 controls or in the 1000 Genomes Project database. The patient, who was anosmic and displayed abnormal dentition, also carried a heterozygous missense mutation in the FGFR1 gene (E692G; <a href="/entry/136350#0028">136350.0028</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23643382" 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"><span class="text-primary">●</span> rs146089505 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs146089505;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs146089505?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs146089505" 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=rs146089505" 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=RCV000043596 OR RCV002513636" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000043596, RCV002513636" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000043596...</a>
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<p>In a female patient with congenital hypogonadotropic hypogonadism (HH19; <a href="/entry/615269">615269</a>), <a href="#4" class="mim-tip-reference" title="Miraoui, H., Dwyer, A. A., Sykiotis, G. P., Plummer, L., Chung, W., Feng, B., Beenken, A., Clarke, J., Pers, T. H., Dworzynski, P., Keefe, K., Niedziela, M., and 17 others. <strong>Mutations in FGF17, IL17RD, DUPS6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.</strong> Am. J. Hum. Genet. 92: 725-743, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23643382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23643382</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23643382[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.2013.04.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23643382">Miraoui et al. (2013)</a> identified heterozygosity for a c.1037C-T transition in exon 3 of the DUSP6 gene, resulting in a thr346-to-met (T346M) substitution at a highly conserved residue in the dual-specificity phosphatase domain. The mutation was not found in 155 controls or in the 1000 Genomes Project database. The patient, who was anosmic and had hearing loss and low bone mass, also carried a heterozygous missense mutation in the SPRY4 gene (S241Y; <a href="/entry/607984#0002">607984.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23643382" 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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<strong>.0004 HYPOGONADOTROPIC HYPOGONADISM 19 WITHOUT ANOSMIA</strong>
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DUSP6, PHE77ILE
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs587776978 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776978;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs587776978?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs587776978" 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=rs587776978" 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=RCV000043597 OR RCV005089403" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000043597, RCV005089403" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000043597...</a>
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<p>In a female patient with congenital hypogonadotropic hypogonadism (HH19; <a href="/entry/615269">615269</a>), <a href="#4" class="mim-tip-reference" title="Miraoui, H., Dwyer, A. A., Sykiotis, G. P., Plummer, L., Chung, W., Feng, B., Beenken, A., Clarke, J., Pers, T. H., Dworzynski, P., Keefe, K., Niedziela, M., and 17 others. <strong>Mutations in FGF17, IL17RD, DUPS6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.</strong> Am. J. Hum. Genet. 92: 725-743, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23643382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23643382</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23643382[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.2013.04.008" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23643382">Miraoui et al. (2013)</a> identified heterozygosity for a c.229T-A transversion in exon 1 of the DUSP6 gene, resulting in a phe77-to-ile (F77I) substitution at a conserved residue in the rhodanese domain. The mutation was not found in 155 controls or in the 1000 Genomes Project database. The patient, who had a normal sense of smell, displayed abnormal dentition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23643382" 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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<strong>REFERENCES</strong>
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Maillet, M., Purcell, N. H., Sargent, M. A., York, A. J., Bueno, O. F., Molkentin, J. D.
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<strong>DUSP6 (MKP3) null mice show enhanced ERK1/2 phosphorylation at baseline and increased myocyte proliferation in the heart affecting disease susceptibility.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18753132/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18753132</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18753132[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=18753132" 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/10.1074/jbc.M806085200" target="_blank">Full Text</a>]
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Miraoui, H., Dwyer, A. A., Sykiotis, G. P., Plummer, L., Chung, W., Feng, B., Beenken, A., Clarke, J., Pers, T. H., Dworzynski, P., Keefe, K., Niedziela, M., and 17 others.
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<strong>Mutations in FGF17, IL17RD, DUPS6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.</strong>
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Am. J. Hum. Genet. 92: 725-743, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23643382/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23643382</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23643382[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=23643382" 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.2013.04.008" target="_blank">Full Text</a>]
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Muda, M., Boschert, U., Dickinson, R., Martinou, J.-C., Martinou, I., Camps, M., Schlegel, W., Arkinstall, S.
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<strong>MKP-3, a novel cytosolic protein-tyrosine phosphatase that exemplifies a new class of mitogen-activated protein kinase phosphatase.</strong>
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[<a href="https://doi.org/10.1074/jbc.271.8.4319" target="_blank">Full Text</a>]
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Patterson, K. I., Brummer, T., O'Brien, P. M., Daly, R. J.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19228121/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19228121</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19228121" 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/10.1042/bj20082234" target="_blank">Full Text</a>]
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Saha, M., Skopelja, S., Martinez, E., Alvarez, D. L., Liponis, B. S., Romero-Sandoval, E. A.
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<strong>Spinal mitogen-activated protein kinase phosphatase-3 (MKP-3) is necessary for the normal resolution of mechanical allodynia in a mouse model of acute postoperative pain.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24155322/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24155322</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24155322" 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/10.1523/JNEUROSCI.5605-12.2013" target="_blank">Full Text</a>]
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Skopelja-Gardner, S., Saha, M., Alvarado-Vazquez, P. A., Liponis, B. S., Martinez, E., Romero-Sandoval, E. A.
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<strong>Mitogen-activated protein kinase phosphatase-3 (MKP-3) in the surgical wound is necessary for the resolution of postoperative pain in mice.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/28405172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">28405172</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=28405172" 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/10.2147/JPR.S129826" target="_blank">Full Text</a>]
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<a id="Smith1997" class="mim-anchor"></a>
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Smith, A., Price, C., Cullen, M., Muda, M., King, A., Ozanne, B., Arkinstall, S., Ashworth, A.
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<strong>Chromosomal localization of three human dual specificity phosphatase genes (DUSP4, DUSP6, and DUSP7).</strong>
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Genomics 42: 524-527, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9205128/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9205128</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9205128" 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.1997.4756" target="_blank">Full Text</a>]
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<a id="Vo2019" class="mim-anchor"></a>
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Vo, A. H., Swaggart, K. A., Woo, A., Gao, Q. Q., Demonbreun, A. R., Fallon, K. S., Quattrocelli, M., Hadhazy, M., Page, P. G. T., Chen, Z., Eskin, A., Squire, K., Nelson, S. F., McNally, E. M.
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<strong>Dusp6 is a genetic modifier of growth through enhanced ERK activity.</strong>
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Hum. Molec. Genet. 28: 279-289, 2019.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30289454/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30289454</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30289454" 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/ddy349" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="11" class="mim-anchor"></a>
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<a id="Xu2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Xu, S., Furukawa, T., Kanai, N., Sunamura, M., Horii, A.
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<strong>Abrogation of DUSP6 by hypermethylation in human pancreatic cancer.</strong>
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J. Hum. Genet. 50: 159-167, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15824892/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15824892</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15824892" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s10038-005-0235-y" 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 : 07/23/2019
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Paul J. Converse - updated : 08/07/2017<br>Marla J. F. O'Neill - updated : 06/05/2013<br>Carol A. Bocchini - updated : 12/4/2009<br>Patricia A. Hartz - updated : 6/30/2009<br>Cassandra L. Kniffin - updated : 6/30/2005<br>Carol A. Bocchini - updated : 3/24/1999
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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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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Rebekah S. Rasooly : 6/24/1998
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </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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mgross : 07/23/2019
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 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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mgross : 08/07/2017<br>alopez : 06/05/2013<br>carol : 12/4/2009<br>alopez : 7/1/2009<br>terry : 6/30/2009<br>alopez : 1/25/2007<br>terry : 1/23/2007<br>wwang : 7/7/2005<br>wwang : 7/5/2005<br>ckniffin : 6/30/2005<br>alopez : 8/20/1999<br>terry : 3/25/1999<br>carol : 3/24/1999<br>dkim : 10/13/1998<br>alopez : 6/24/1998
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<span class="mim-font">
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<strong>*</strong> 602748
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<h3>
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<span class="mim-font">
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DUAL-SPECIFICITY PHOSPHATASE 6; DUSP6
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</h3>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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MAP KINASE PHOSPHATASE 3; MKP3<br />
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PYST1
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: DUSP6</em></strong>
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<strong>
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<em>
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Cytogenetic location: 12q21.33
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Genomic coordinates <span class="small">(GRCh38)</span> : 12:89,347,235-89,352,501 </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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<strong>Gene-Phenotype Relationships</strong>
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<table class="table table-bordered table-condensed small mim-table-padding">
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Location
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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<span class="mim-font">
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12q21.33
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<td>
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<span class="mim-font">
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Hypogonadotropic hypogonadism 19 with or without anosmia
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</td>
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<td>
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<span class="mim-font">
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615269
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<span class="mim-font">
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Autosomal dominant
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<td>
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<span class="mim-font">
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3
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<span class="mim-font">
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<strong>TEXT</strong>
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<h4>
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<strong>Description</strong>
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<span class="mim-text-font">
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<p>Dual-specificity phosphatases (DUSPs) constitute a large heterogeneous subgroup of the type I cysteine-based protein-tyrosine phosphatase superfamily. DUSPs are characterized by their ability to dephosphorylate both tyrosine and serine/threonine residues. DUSP6 belongs to a class of DUSPs, designated MKPs, that dephosphorylate MAPK (mitogen-activated protein kinase) proteins ERK (see 601795), JNK (see 601158), and p38 (see 600289) with specificity distinct from that of individual MKP proteins. MKPs contain a highly conserved C-terminal catalytic domain and an N-terminal Cdc25 (see 116947)-like (CH2) domain. MAPK activation cascades mediate various physiologic processes, including cellular proliferation, apoptosis, differentiation, and stress responses (summary by Patterson et al., 2009). </p>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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<span class="mim-text-font">
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<p>Muda et al. (1996) identified rat superior cervical ganglion cDNAs encoding 2 dual-specificity phosphatases that they designated MKP3 and MKPX (DUSP7; 602749). </p><p>Groom et al. (1996) identified cDNAs encoding the human MKP3 and MKPX homologs, which they called PYST1 and PYST2, respectively. Like other dual-specificity phosphatases, the N-terminal region of the predicted 381-amino acid PYST1 protein has 2 domains with significant homology to CDC25 (157680). Northern blot analysis revealed that PYST1 is expressed as a 3-kb mRNA in a variety of tissues, with the highest levels in heart and pancreas. By immunofluorescence of mammalian cells expressing epitope-tagged PYST1, Groom et al. (1996) showed that the protein is localized to the cytoplasm. </p><p>By RT-PCR, Furukawa et al. (1998) found that DUSP6 was expressed as 2 differently sized transcripts in all tissues tested. </p>
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<br />
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<h4>
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<span class="mim-font">
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<strong>Gene Structure</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>Furukawa et al. (1998) determined that the DUSP6 gene contains 3 exons. </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 somatic cell hybrids and fluorescence in situ hybridization (FISH), Smith et al. (1997) mapped the DUSP6 gene to 12q22-q23. By FISH, Furukawa et al. (1998) localized the gene to 12q21. </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>By Northern blot analysis, Muda et al. (1996) found that nerve growth factor (see 162030) induced MKP3 expression in PC12 cells. By in situ hybridization, Muda et al. (1996) showed that metrazole-stimulated seizure activity induced MKP3 expression, rapidly and transiently, in specific regions of the brain. When expressed in mammalian cells, MKP3 blocked both the phosphorylation and enzymatic activation of the MAP kinase ERK2 (176948) by mitogens. Muda et al. (1996) concluded that MKP3 may play an important and specific role in regulating MAP kinase activities. </p><p>Groom et al. (1996) found that PYST1 dephosphorylated and inactivated MAP kinase in vitro and in vivo, but displayed very low activity towards the related stress-activated protein kinases (SAPKs; see 601158). When expressed in mammalian cells, PYST1 formed a physical complex with endogenous MAP kinase. </p><p>Furukawa et al. (1998) found decreased expression of DUSP6 in a subset of pancreatic cancer cell lines. Xu et al. (2005) determined that transcriptional suppression of DUSP6 in a subset of human pancreatic cancer cell lines was due to hypermethylation of CpG islands in intron 1. Among 12 cancer cell lines, methylation was detected in 5 of 8 cases with abolished expression of DUSP6, 4 of which were poorly differentiated adenocarcinoma. None of the 4 cases with preserved expression of DUSP6 showed methylation. The methylation state correlated with both the abolishment of protein expression and the histologic cancer subtype. Xu et al. (2005) suggested that DUSP6 acts as a tumor suppressor. </p><p>Using whole-genome analysis and RNA sequencing, Vo et al. (2019) identified Dusp6 as a genetic modifier of muscular dystrophy in the Sgcg (608896)-null D2 mouse strain. Dusp6 from the D2 mouse strain had a met62-to-ile (M62I) variant that was not present in other strains. The M62I change did not alter cytoplasmic localization of Dusp6 or overall expression of Dusp6 in C2C12 cells, but pull-down assays showed that M62I reduced the ability of Dusp6 to interact with Erk2, resulting in increased Erk1/Erk2 phosphorylation and activity. Inhibition of Dusp6 in myoblasts from different mouse strains resulted in dose-dependent increases in cell proliferation, whereas Dusp6 inhibition had little effect in D2 mice. </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 5 unrelated individuals with congenital hypogonadotropic hypogonadism (HH19; 615269), Miraoui et al. (2013) identified heterozygosity for missense mutations in the DUSP6 gene (602748.0001-602748.0004). In 3 of the probands, the DUSP6 mutation was accompanied by a heterozygous missense mutation in another HH-associated gene, either FGFR1 (136350.0028) and SPRY4 (607984.0001 and 607984.0003). Miraoui et al. (2013) concluded that mutations in genes encoding components of the FGF pathway are associated with complex modes of congenital HH (CHH) inheritance and act primarily as contributors to an oligogenic genetic architecture underlying CHH. </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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<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>Maillet et al. (2008) found that Dusp6 -/- mice were viable and fertile; however, they had enlarged hearts, which was associated with higher rates of myocyte proliferation during embryonic and early postnatal development. Dusp6 -/- mice had increased basal Erk1 (601795)/Erk2 phosphorylation in the heart, spleen, kidney, brain, and fibroblasts, but loss of Dusp6 did not increase or prolong Erk1/Erk2 activation after stimulation. Dusp6 -/- embryonic fibroblasts also showed reduced rate of apoptosis compared with wildtype fibroblasts. Increased cardiac myocyte content in Dusp6 -/- mice was protective against cardiac injury following long-term pressure overload or experimental infarction in adult mice. Maillet et al. (2008) concluded that DUSP6 coordinates cellular development and survival and directly affects disease responsiveness in adulthood. </p><p>By studying wildtype and Mkp3 -/- mice after hindpaw surgery, Skopelja-Gardner et al. (2017) found that mechanical allodynia resolved over a 12-day period in wildtype mice, whereas it persisted in Mkp3 -/- mice. Mkp3 -/- mice exhibited higher numbers of infiltrating inflammatory cells than wildtype mice 1 day after surgery that returned to baseline by 12 days after surgery. In both wildtype and Mkp3 -/- mice, peripheral phosphorylated p38 levels were increased at 1 and 5 days after surgery and returned to basal levels the following week. Phosphorylated Erk1/2 followed a similar course in wildtype mice, but in Mkp3 -/- mice phosphorylated Erk1/2 levels remained elevated 12 days after surgery. Hypersensitivity and Erk1/2 phosphorylation were reduced by administration of a Mek (see 176872) inhibitor. Skopelja-Gardner et al. (2017) proposed that MKP3 is critical for normal resolution of acute postoperative allodynia in peripheral tissue, as they had observed previously in spine (Saha et al., 2013). </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>ALLELIC VARIANTS</strong>
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</span>
|
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<strong>4 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 HYPOGONADOTROPIC HYPOGONADISM 19 WITH ANOSMIA</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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DUSP6, ASN189SER
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<br />
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SNP: rs143946794,
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gnomAD: rs143946794,
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ClinVar: RCV000043594, RCV002513635
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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 patients with congenital hypogonadotropic hypogonadism (HH19; 615269), Miraoui et al. (2013) identified heterozygosity for a c.566A-G transition in exon 2 of the DUSP6 gene, resulting in an asn189-to-ser (N189S) substitution at a conserved residue in the link between the rhodanese and dual-specificity phosphatase domains. The mutation was not found in 155 controls or in the 1000 Genomes Project database. The male and female patients were both anosmic; the female patient, who also carried a heterozygous missense mutation in the SPRY4 gene (S241Y; 607984.0002), had low bone mass. </p>
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<span class="mim-font">
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<strong>.0002 HYPOGONADOTROPIC HYPOGONADISM 19 WITH ANOSMIA, SUSCEPTIBILITY TO</strong>
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DUSP6, SER182PHE
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<br />
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SNP: rs139318648,
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gnomAD: rs139318648,
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ClinVar: RCV000043595, RCV001852910
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<p>In a male patient with congenital hypogonadotropic hypogonadism (HH19; 615269), Miraoui et al. (2013) identified heterozygosity for a c.545C-T transition in exon 2 of the DUSP6 gene, resulting in a ser182-to-phe (S182F) substitution at a highly conserved residue in the link between the rhodanese and dual-specificity phosphatase domains. The mutation was not found in 155 controls or in the 1000 Genomes Project database. The patient, who was anosmic and displayed abnormal dentition, also carried a heterozygous missense mutation in the FGFR1 gene (E692G; 136350.0028). </p>
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<span class="mim-font">
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<strong>.0003 HYPOGONADOTROPIC HYPOGONADISM 19 WITH ANOSMIA, SUSCEPTIBILITY TO</strong>
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DUSP6, THR346MET
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<br />
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SNP: rs146089505,
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gnomAD: rs146089505,
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ClinVar: RCV000043596, RCV002513636
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<p>In a female patient with congenital hypogonadotropic hypogonadism (HH19; 615269), Miraoui et al. (2013) identified heterozygosity for a c.1037C-T transition in exon 3 of the DUSP6 gene, resulting in a thr346-to-met (T346M) substitution at a highly conserved residue in the dual-specificity phosphatase domain. The mutation was not found in 155 controls or in the 1000 Genomes Project database. The patient, who was anosmic and had hearing loss and low bone mass, also carried a heterozygous missense mutation in the SPRY4 gene (S241Y; 607984.0002). </p>
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<span class="mim-font">
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<strong>.0004 HYPOGONADOTROPIC HYPOGONADISM 19 WITHOUT ANOSMIA</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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DUSP6, PHE77ILE
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<br />
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SNP: rs587776978,
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gnomAD: rs587776978,
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ClinVar: RCV000043597, RCV005089403
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<span class="mim-text-font">
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<p>In a female patient with congenital hypogonadotropic hypogonadism (HH19; 615269), Miraoui et al. (2013) identified heterozygosity for a c.229T-A transversion in exon 1 of the DUSP6 gene, resulting in a phe77-to-ile (F77I) substitution at a conserved residue in the rhodanese domain. The mutation was not found in 155 controls or in the 1000 Genomes Project database. The patient, who had a normal sense of smell, displayed abnormal dentition. </p>
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</span>
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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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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
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Furukawa, T., Yatsuoka, T., Youssef, E. M., Abe, T., Yokoyama, T., Fukushige, S., Soeda, E., Hoshi, M., Hayashi, Y., Sunamura, M., Kobari, M., Horii, A.
|
|
<strong>Genomic analysis of DUSP6, a dual specificity MAP kinase phosphatase, in pancreatic cancer.</strong>
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|
Cytogenet. Cell Genet. 82: 156-159, 1998.
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[PubMed: 9858808]
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[Full Text: https://doi.org/10.1159/000015091]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Groom, L. A., Sneddon, A. A., Alessi, D. R., Dowd, S., Keyse, S. M.
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<strong>Differential regulation of the MAP, SAP and RK/p38 kinases by Pyst1, a novel cytosolic dual-specificity phosphatase.</strong>
|
|
EMBO J. 15: 3621-3632, 1996.
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[PubMed: 8670865]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Maillet, M., Purcell, N. H., Sargent, M. A., York, A. J., Bueno, O. F., Molkentin, J. D.
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<strong>DUSP6 (MKP3) null mice show enhanced ERK1/2 phosphorylation at baseline and increased myocyte proliferation in the heart affecting disease susceptibility.</strong>
|
|
J. Biol. Chem. 283: 31246-31255, 2008.
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[PubMed: 18753132]
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[Full Text: https://doi.org/10.1074/jbc.M806085200]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Miraoui, H., Dwyer, A. A., Sykiotis, G. P., Plummer, L., Chung, W., Feng, B., Beenken, A., Clarke, J., Pers, T. H., Dworzynski, P., Keefe, K., Niedziela, M., and 17 others.
|
|
<strong>Mutations in FGF17, IL17RD, DUPS6, SPRY4, and FLRT3 are identified in individuals with congenital hypogonadotropic hypogonadism.</strong>
|
|
Am. J. Hum. Genet. 92: 725-743, 2013.
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[PubMed: 23643382]
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[Full Text: https://doi.org/10.1016/j.ajhg.2013.04.008]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Muda, M., Boschert, U., Dickinson, R., Martinou, J.-C., Martinou, I., Camps, M., Schlegel, W., Arkinstall, S.
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<strong>MKP-3, a novel cytosolic protein-tyrosine phosphatase that exemplifies a new class of mitogen-activated protein kinase phosphatase.</strong>
|
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J. Biol. Chem. 271: 4319-4326, 1996.
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[PubMed: 8626780]
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[Full Text: https://doi.org/10.1074/jbc.271.8.4319]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Patterson, K. I., Brummer, T., O'Brien, P. M., Daly, R. J.
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<strong>Dual-specificity phosphatases: critical regulators with diverse cellular targets.</strong>
|
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Biochem. J. 418: 475-489, 2009.
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[PubMed: 19228121]
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[Full Text: https://doi.org/10.1042/bj20082234]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Saha, M., Skopelja, S., Martinez, E., Alvarez, D. L., Liponis, B. S., Romero-Sandoval, E. A.
|
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<strong>Spinal mitogen-activated protein kinase phosphatase-3 (MKP-3) is necessary for the normal resolution of mechanical allodynia in a mouse model of acute postoperative pain.</strong>
|
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J. Neurosci. 33: 17182-17187, 2013.
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[PubMed: 24155322]
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[Full Text: https://doi.org/10.1523/JNEUROSCI.5605-12.2013]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Skopelja-Gardner, S., Saha, M., Alvarado-Vazquez, P. A., Liponis, B. S., Martinez, E., Romero-Sandoval, E. A.
|
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<strong>Mitogen-activated protein kinase phosphatase-3 (MKP-3) in the surgical wound is necessary for the resolution of postoperative pain in mice.</strong>
|
|
J. Pain Res. 10: 763-774, 2017.
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[PubMed: 28405172]
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[Full Text: https://doi.org/10.2147/JPR.S129826]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Smith, A., Price, C., Cullen, M., Muda, M., King, A., Ozanne, B., Arkinstall, S., Ashworth, A.
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<strong>Chromosomal localization of three human dual specificity phosphatase genes (DUSP4, DUSP6, and DUSP7).</strong>
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Genomics 42: 524-527, 1997.
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[PubMed: 9205128]
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[Full Text: https://doi.org/10.1006/geno.1997.4756]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Vo, A. H., Swaggart, K. A., Woo, A., Gao, Q. Q., Demonbreun, A. R., Fallon, K. S., Quattrocelli, M., Hadhazy, M., Page, P. G. T., Chen, Z., Eskin, A., Squire, K., Nelson, S. F., McNally, E. M.
|
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<strong>Dusp6 is a genetic modifier of growth through enhanced ERK activity.</strong>
|
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Hum. Molec. Genet. 28: 279-289, 2019.
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[PubMed: 30289454]
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[Full Text: https://doi.org/10.1093/hmg/ddy349]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Xu, S., Furukawa, T., Kanai, N., Sunamura, M., Horii, A.
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<strong>Abrogation of DUSP6 by hypermethylation in human pancreatic cancer.</strong>
|
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J. Hum. Genet. 50: 159-167, 2005.
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[PubMed: 15824892]
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[Full Text: https://doi.org/10.1007/s10038-005-0235-y]
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</p>
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</li>
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</ol>
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Bao Lige - updated : 07/23/2019<br>Paul J. Converse - updated : 08/07/2017<br>Marla J. F. O'Neill - updated : 06/05/2013<br>Carol A. Bocchini - updated : 12/4/2009<br>Patricia A. Hartz - updated : 6/30/2009<br>Cassandra L. Kniffin - updated : 6/30/2005<br>Carol A. Bocchini - updated : 3/24/1999
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Rebekah S. Rasooly : 6/24/1998
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</p>
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</div>
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</div>
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</div>
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<div class="modal-footer">
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<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
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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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</body>
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</html>
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