3018 lines
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- *605195 - MESODERM POSTERIOR BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTOR 2; MESP2
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- OMIM
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<p>
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<span class="h4">*605195</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="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<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/605195">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000188095;t=ENST00000341735" 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=145873" 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=605195" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000188095;t=ENST00000341735" 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_001039958" 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_001039958" 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=605195" 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=18897&isoform_id=18897_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/MESP2" 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/28273189,90403598,111494207,290457624" 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/Q0VG99" 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=145873" 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=ENSG00000188095;t=ENST00000341735" 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=MESP2" 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=MESP2" 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+145873" 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/MESP2" 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:145873" 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/145873" class="mim-tip-hint" title="Gene-specific map, sequence, expression, structure, function, citation, and homology data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'NCBI Gene', 'domain': 'ncbi.nlm.nih.gov'})">NCBI Gene</a></div>
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<div><a href="https://genome.ucsc.edu/cgi-bin/hgGene?db=hg38&hgg_chrom=chr15&hgg_gene=ENST00000341735.5&hgg_start=89776332&hgg_end=89778754&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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://medlineplus.gov/genetics/gene/mesp2" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=605195[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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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=605195[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/ENSG00000188095" 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=MESP2" 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=MESP2" 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=MESP2" 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=MESP2&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/PA142671469" 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:29659" 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/FBgn0037672.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:1096325" 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/MESP2#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:1096325" 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/145873/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=145873" 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://zfin.org/ZDB-GENE-000406-8" 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://reactome.org/content/query?q=MESP2&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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605195
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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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MESODERM POSTERIOR BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTOR 2; MESP2
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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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MESODERM POSTERIOR PROTEIN 2
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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=MESP2" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">MESP2</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/15/508?start=-3&limit=10&highlight=508">15q26.1</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr15:89776332-89778754&dgv=pack&knownGene=pack&omimGene=pack" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">15:89,776,332-89,778,754</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/15/508?start=-3&limit=10&highlight=508">
|
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15q26.1
|
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</a>
|
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
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Spondylocostal dysostosis 2, autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/608681"> 608681 </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 recessive">AR</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/605195" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/605195" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</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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<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>
|
|
</span>
|
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</span>
|
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</h4>
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<div>
|
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<a id="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<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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<span class="mim-text-font">
|
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<p>The MESP2 gene, a member of the basic helix-loop-helix (bHLH) family of transcriptional regulatory proteins essential to a vast array of developmental processes, is critical for normal somitogenesis in humans.</p>
|
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
|
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<a id="cloning" class="mim-anchor"></a>
|
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<p><a href="#4" class="mim-tip-reference" title="Saga, Y., Hata, N., Koseki, H., Taketo, M. M. <strong>Mesp2: a novel mouse gene expressed in the presegmented mesoderm and essential for segmentation initiation.</strong> Genes Dev. 11: 1827-1839, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9242490/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9242490</a>] [<a href="https://doi.org/10.1101/gad.11.14.1827" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9242490">Saga et al. (1997)</a> isolated a novel bHLH protein gene, called Mesp2 for 'mesoderm posterior 2,' that cross-hybridizes with Mesp1 (<a href="/entry/608689">608689</a>) expressed in early mouse mesoderm. Mesp2 is expressed in the rostral presomitic mesoderm, but downregulated immediately after the formation of the segmented somites. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9242490" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Whittock, N. V., Sparrow, D. B., Wouters, M. A., Sillence, D., Ellard, S., Dunwoodie, S. L., Turnpenny, P. D. <strong>Mutated MESP2 causes spondylocostal dysostosis in humans.</strong> Am. J. Hum. Genet. 74: 1249-1254, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15122512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15122512</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15122512[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/421053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15122512">Whittock et al. (2004)</a> identified the MESP2 gene in the working draft of the human genome sequence. The MESP2 gene is predicted to produce a transcript of 1,191 bp encoding a protein of 397 amino acids. Human MESP2 protein shares approximately 58% identity with mouse Mesp2 and approximately 47% identity with human MESP1. The MESP2 protein contains an N-terminal bHLH region and a unique CPXCP motif immediately C-terminal to it. The N- and C-terminal regions are separated by a 13-repeat GQ region. Alignment of MESP2 homologs from human, mouse, Xenopus, and chick indicated a highly divergent C terminus between species. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15122512" 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>The Notch (see <a href="/entry/190198">190198</a>) signaling pathway is important in establishing metameric pattern during somitogenesis. In mice, the lack of either of 2 molecules involved in the Notch signaling pathway, Mesp2 or presenilin-1 (PS1; see <a href="/entry/104311">104311</a>), results in contrasting phenotypes: caudalized versus rostralized vertebra. <a href="#5" class="mim-tip-reference" title="Takahashi, Y., Koizumi, K., Takagi, A., Kitajima, S., Inoue, T., Koseki, H., Saga, Y. <strong>Mesp2 initiates somite segmentation through the Notch signalling pathway.</strong> Nature Genet. 25: 390-396, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10932180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10932180</a>] [<a href="https://doi.org/10.1038/78062" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10932180">Takahashi et al. (2000)</a> adopted a genetic approach to analyze the molecular mechanism underlying establishment of rostro-caudal polarity in somites. By focusing on the fact that the expression of a Notch ligand, Dll1, is important for prefiguring somite identity, <a href="#5" class="mim-tip-reference" title="Takahashi, Y., Koizumi, K., Takagi, A., Kitajima, S., Inoue, T., Koseki, H., Saga, Y. <strong>Mesp2 initiates somite segmentation through the Notch signalling pathway.</strong> Nature Genet. 25: 390-396, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10932180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10932180</a>] [<a href="https://doi.org/10.1038/78062" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10932180">Takahashi et al. (2000)</a> found that Mesp2 initiates establishment of rostro-caudal polarity by controlling 2 Notch signaling pathways. Initially Mesp2 activates the Ps1-independent Notch signaling cascade to suppress Dll1 expression and specify the rostral half of the somite. Ps1-mediated Notch signaling is required to induce Dll1 expression in the caudal half of the somite. Therefore, Mesp2- and Ps1-dependent activation of Notch signaling pathways might differentially regulate Dll1 expression, resulting in the establishment of the rostro-caudal polarity of somites. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10932180" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Morimoto, M., Takahashi, Y., Endo, M., Saga, Y. <strong>The Mesp2 transcription factor establishes segmental borders by suppressing Notch activity.</strong> Nature 435: 354-359, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15902259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15902259</a>] [<a href="https://doi.org/10.1038/nature03591" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15902259">Morimoto et al. (2005)</a> visualized endogenous levels of Notch1 activity in mice, showing that it oscillates in the posterior presomitic mesoderm but is arrested in the anterior presomitic mesoderm. Somite boundaries formed at the interface between Notch1-activated and -repressed domains. Genetic and biochemical studies indicated that this interface is generated by suppression of Notch activity by Mesp2 through induction of the lunatic fringe gene (LFNG; <a href="/entry/602576">602576</a>). <a href="#3" class="mim-tip-reference" title="Morimoto, M., Takahashi, Y., Endo, M., Saga, Y. <strong>The Mesp2 transcription factor establishes segmental borders by suppressing Notch activity.</strong> Nature 435: 354-359, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15902259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15902259</a>] [<a href="https://doi.org/10.1038/nature03591" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15902259">Morimoto et al. (2005)</a> proposed that the oscillation of Notch activity is arrested and translated in the wavefront by Mesp2. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15902259" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Yasuhiko, Y., Haraguchi, S., Kitajima, S., Takahashi, Y., Kanno, J., Saga, Y. <strong>Tbx6-mediated Notch signaling controls somite-specific Mesp2 expression.</strong> Proc. Nat. Acad. Sci. 103: 3651-3656, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16505380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16505380</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16505380[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0508238103" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16505380">Yasuhiko et al. (2006)</a> found that Tbx6 (<a href="/entry/602427">602427</a>) was essential for Mesp2 expression during somitogenesis in mouse. Tbx6 directly bound to the Mesp2 gene upstream region and mediated Notch signaling and subsequent Mesp2 transcription in the anterior presomitic mesoderm. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16505380" 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="Matsuda, M., Yamanaka, Y., Uemura, M., Osawa, M., Saito, M. K., Nagahashi, A., Nishio, M., Guo, L., Ikegawa, S., Sakurai, S., Kihara, S., Maurissen, T. L., and 10 others. <strong>Recapitulating the human segmentation clock with pluripotent stem cells.</strong> Nature 580: 124-129, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32238941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32238941</a>] [<a href="https://doi.org/10.1038/s41586-020-2144-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32238941">Matsuda et al. (2020)</a> used human induced pluripotent stem cells for in vitro induction of presomitic mesoderm and its derivatives to model human somitogenesis, with a focus on the human segmentation clock. The authors observed oscillatory expression of core segmentation clock genes, including HES7 (<a href="/entry/608059">608059</a>) and DKK1 (<a href="/entry/605189">605189</a>), determined the period of the human segmentation clock to be around 5 hours, and demonstrated the presence of dynamic traveling wave-like gene expression in in vitro-induced human presomitic mesoderm. Identification and comparison of oscillatory genes in human and mouse presomitic mesoderm derived from pluripotent stem cells revealed species-specific and shared molecular components and pathways associated with the putative mouse and human segmentation clocks. Knockout of genes mutated in patients with segmentation defects of vertebrae, including HES7, LFNG, DLL3 (<a href="/entry/602768">602768</a>), and MESP2, followed by analysis of patient-like and patient-derived induced pluripotent stem cells revealed gene-specific alterations in oscillation, synchronization, or differentiation properties. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32238941" 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="#6" class="mim-tip-reference" title="Whittock, N. V., Sparrow, D. B., Wouters, M. A., Sillence, D., Ellard, S., Dunwoodie, S. L., Turnpenny, P. D. <strong>Mutated MESP2 causes spondylocostal dysostosis in humans.</strong> Am. J. Hum. Genet. 74: 1249-1254, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15122512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15122512</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15122512[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/421053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15122512">Whittock et al. (2004)</a> stated that the MESP2 gene has 2 exons and spans approximately 2 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15122512" 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="#6" class="mim-tip-reference" title="Whittock, N. V., Sparrow, D. B., Wouters, M. A., Sillence, D., Ellard, S., Dunwoodie, S. L., Turnpenny, P. D. <strong>Mutated MESP2 causes spondylocostal dysostosis in humans.</strong> Am. J. Hum. Genet. 74: 1249-1254, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15122512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15122512</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15122512[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/421053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15122512">Whittock et al. (2004)</a> identified the MESP2 gene within the chromosome 15q26.1 region of the human genome working draft sequence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15122512" 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>Using a genomewide scanning strategy in a consanguineous family of Lebanese Arab origin with 2 offspring affected with spondylocostal dysostosis (SCDO2; <a href="/entry/608681">608681</a>), <a href="#6" class="mim-tip-reference" title="Whittock, N. V., Sparrow, D. B., Wouters, M. A., Sillence, D., Ellard, S., Dunwoodie, S. L., Turnpenny, P. D. <strong>Mutated MESP2 causes spondylocostal dysostosis in humans.</strong> Am. J. Hum. Genet. 74: 1249-1254, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15122512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15122512</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15122512[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/421053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15122512">Whittock et al. (2004)</a> found a 4-bp duplication mutation in the MESP2 gene (<a href="#0001">605195.0001</a>) that segregated with the disorder. No MESP2 mutations were found in a further 7 patients with related radiologic phenotypes in whom abnormal segmentation affected all vertebrae, nor in a further 12 patients with diverse phenotypes. <a href="#6" class="mim-tip-reference" title="Whittock, N. V., Sparrow, D. B., Wouters, M. A., Sillence, D., Ellard, S., Dunwoodie, S. L., Turnpenny, P. D. <strong>Mutated MESP2 causes spondylocostal dysostosis in humans.</strong> Am. J. Hum. Genet. 74: 1249-1254, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15122512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15122512</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15122512[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/421053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15122512">Whittock et al. (2004)</a> suggested that this form of spondylocostal dysostosis be called spondylocostal dysostosis type 2 (SCDO2) or spondylocostal dysostosis, MESP2 type. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15122512" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In 12 Puerto Rican probands with SCDO2, <a href="#1" class="mim-tip-reference" title="Cornier, A. S., Staehling-Hampton, K., Delventhal, K. M., Saga, Y., Caubet, J.-F., Sasaki, N., Ellard, S., Young, E., Ramirez, N., Carlo, S. E., Torres, J., Emans, J. B., Turnpenny, P. D., Pourquie, O. <strong>Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.</strong> Am. J. Hum. Genet. 82: 1334-1341, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18485326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18485326</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18485326[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.2008.04.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18485326">Cornier et al. (2008)</a> identified 3 different biallelic mutations in the MESP2 gene (<a href="#0002">605195.0002</a>-<a href="#0004">605195.0004</a>). The most common allele was E103X (<a href="#0002">605195.0002</a>), consistent with a founder effect in this population. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18485326" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Saga, Y., Hata, N., Koseki, H., Taketo, M. M. <strong>Mesp2: a novel mouse gene expressed in the presegmented mesoderm and essential for segmentation initiation.</strong> Genes Dev. 11: 1827-1839, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9242490/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9242490</a>] [<a href="https://doi.org/10.1101/gad.11.14.1827" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9242490">Saga et al. (1997)</a> generated mice deficient in Mesp2 by targeted disruption. The homozygous Mesp2 -/- mice died shortly after birth and had fused vertebral columns and dorsal root ganglia, with impaired sclerotomal polarity. The earliest defect in the homozygous embryos was the lack of segmented somites. Their disruption of the metameric features, altered expression of Mox1 (<a href="/entry/300225">300225</a>), Pax1 (<a href="/entry/167411">167411</a>), and Dll1 (see <a href="/entry/602768">602768</a>), and lack of expression of Notch1 (<a href="/entry/190198">190198</a>), Notch2 (<a href="/entry/600275">600275</a>), and FGFR1 (<a href="/entry/136350">136350</a>) suggested that MesP2 controls sclerotomal polarity by regulating the signaling systems mediated by Notch-Delta and FGF (e.g., <a href="/entry/131220">131220</a>), which are essential for segmentation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9242490" 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>ALLELIC VARIANTS (<a href="/help/faq#1_4"></strong>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=605195[MIM]" class="btn btn-default mim-tip-hint" role="button" 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>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs113994158 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs113994158;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs113994158" 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=rs113994158" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p><a href="#6" class="mim-tip-reference" title="Whittock, N. V., Sparrow, D. B., Wouters, M. A., Sillence, D., Ellard, S., Dunwoodie, S. L., Turnpenny, P. D. <strong>Mutated MESP2 causes spondylocostal dysostosis in humans.</strong> Am. J. Hum. Genet. 74: 1249-1254, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15122512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15122512</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15122512[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1086/421053" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15122512">Whittock et al. (2004)</a> studied a consanguineous Lebanese Arab family in which 2 offspring were affected with spondylocostal dysostosis mapping to 15q26.1 (SCDO2; <a href="/entry/608681">608681</a>). Affected individuals showed homozygosity for a 4-bp duplication mutation in the MESP2 gene. The 4-bp (ACCG) duplication was located in exon 1 and termed 500-503dup. The parents were heterozygous for the mutation and an unaffected sib was homozygous normal. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15122512" 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 in vitro functional expression studies, <a href="#1" class="mim-tip-reference" title="Cornier, A. S., Staehling-Hampton, K., Delventhal, K. M., Saga, Y., Caubet, J.-F., Sasaki, N., Ellard, S., Young, E., Ramirez, N., Carlo, S. E., Torres, J., Emans, J. B., Turnpenny, P. D., Pourquie, O. <strong>Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.</strong> Am. J. Hum. Genet. 82: 1334-1341, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18485326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18485326</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18485326[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.2008.04.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18485326">Cornier et al. (2008)</a> demonstrated that the 4-bp dup mutant protein lacked transcriptional activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18485326" 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> rs71647808 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs71647808;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/rs71647808?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=rs71647808" 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=rs71647808" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a 12-year-old girl of Puerto Rican origin with a severe form of spondylocostal dysostosis (SCDO2; <a href="/entry/608681">608681</a>), <a href="#1" class="mim-tip-reference" title="Cornier, A. S., Staehling-Hampton, K., Delventhal, K. M., Saga, Y., Caubet, J.-F., Sasaki, N., Ellard, S., Young, E., Ramirez, N., Carlo, S. E., Torres, J., Emans, J. B., Turnpenny, P. D., Pourquie, O. <strong>Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.</strong> Am. J. Hum. Genet. 82: 1334-1341, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18485326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18485326</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18485326[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.2008.04.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18485326">Cornier et al. (2008)</a> identified a homozygous 307G-T transversion in exon 1 of the MESP2 gene, resulting in a glu103-to-ter (E103X) substitution in the basic helix-loop-helix domain. The mutation was predicted to produce a nonfunctional protein and be susceptible to nonsense-mediated RNA decay. The patient also had scoliosis, a tethered spinal cord, and malrotation of the right kidney. In 10 of 12 additional Puerto Rican probands with the disorder, the authors identified homozygosity for the E103X mutation. One patient was compound heterozygous for the E103X and L125V (<a href="#0003">605195.0003</a>) mutations, and 2 sibs, who were third cousins of an E103X homozygous proband, were compound heterozygous for the E103X and E230X (<a href="#0004">605195.0004</a>) mutations. Heterozygous carriers were unaffected. In general, E103X homozygotes were more severely affected than compound heterozygotes. The findings were consistent with a founder effect in the Puerto Rican population. In vitro functional expression studies showed that the mutant protein lacked transcriptional activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18485326" 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">rs71647806 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs71647806;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs71647806" 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=rs71647806" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In a patient of Puerto Rican origin with spondylocostal dysostosis (SCDO2; <a href="/entry/608681">608681</a>), <a href="#1" class="mim-tip-reference" title="Cornier, A. S., Staehling-Hampton, K., Delventhal, K. M., Saga, Y., Caubet, J.-F., Sasaki, N., Ellard, S., Young, E., Ramirez, N., Carlo, S. E., Torres, J., Emans, J. B., Turnpenny, P. D., Pourquie, O. <strong>Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.</strong> Am. J. Hum. Genet. 82: 1334-1341, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18485326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18485326</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18485326[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.2008.04.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18485326">Cornier et al. (2008)</a> identified compound heterozygosity for 2 mutations in the MESP2 gene: a 373C-G transversion resulting in a leu125-to-val (L125V) substitution, and E103X (<a href="#0002">605195.0002</a>). Both substitutions occurred in the basic helix-loop-helix domain. In vitro functional expression studies showed that the L125V-mutant protein lacked transcriptional activity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18485326" 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">rs118204035 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs118204035;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs118204035" 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=rs118204035" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In 2 sibs of Puerto Rican origin with spondylocostal dysostosis (SCDO2; <a href="/entry/608681">608681</a>), <a href="#1" class="mim-tip-reference" title="Cornier, A. S., Staehling-Hampton, K., Delventhal, K. M., Saga, Y., Caubet, J.-F., Sasaki, N., Ellard, S., Young, E., Ramirez, N., Carlo, S. E., Torres, J., Emans, J. B., Turnpenny, P. D., Pourquie, O. <strong>Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.</strong> Am. J. Hum. Genet. 82: 1334-1341, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18485326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18485326</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18485326[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.2008.04.014" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18485326">Cornier et al. (2008)</a> identified compound heterozygosity for 2 mutations in the MESP2 gene: a 688G-T transversion in exon 1 resulting in a glu230-to-ter (E230X) substitution in the C-terminal domain, and E103X (<a href="#0002">605195.0002</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18485326" 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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</h4>
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<a id="1" class="mim-anchor"></a>
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<a id="Cornier2008" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Cornier, A. S., Staehling-Hampton, K., Delventhal, K. M., Saga, Y., Caubet, J.-F., Sasaki, N., Ellard, S., Young, E., Ramirez, N., Carlo, S. E., Torres, J., Emans, J. B., Turnpenny, P. D., Pourquie, O.
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<strong>Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.</strong>
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Am. J. Hum. Genet. 82: 1334-1341, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18485326/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18485326</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=18485326[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=18485326" 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.2008.04.014" target="_blank">Full Text</a>]
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<a id="Matsuda2020" class="mim-anchor"></a>
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<p class="mim-text-font">
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Matsuda, M., Yamanaka, Y., Uemura, M., Osawa, M., Saito, M. K., Nagahashi, A., Nishio, M., Guo, L., Ikegawa, S., Sakurai, S., Kihara, S., Maurissen, T. L., and 10 others.
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<strong>Recapitulating the human segmentation clock with pluripotent stem cells.</strong>
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Nature 580: 124-129, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32238941/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32238941</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32238941" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/s41586-020-2144-9" target="_blank">Full Text</a>]
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<a id="Morimoto2005" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Morimoto, M., Takahashi, Y., Endo, M., Saga, Y.
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<strong>The Mesp2 transcription factor establishes segmental borders by suppressing Notch activity.</strong>
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Nature 435: 354-359, 2005.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15902259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15902259</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15902259" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nature03591" target="_blank">Full Text</a>]
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<a id="Saga1997" class="mim-anchor"></a>
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<p class="mim-text-font">
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Saga, Y., Hata, N., Koseki, H., Taketo, M. M.
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<strong>Mesp2: a novel mouse gene expressed in the presegmented mesoderm and essential for segmentation initiation.</strong>
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Genes Dev. 11: 1827-1839, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9242490/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9242490</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9242490" 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/10.1101/gad.11.14.1827" target="_blank">Full Text</a>]
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<a id="Takahashi2000" class="mim-anchor"></a>
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Takahashi, Y., Koizumi, K., Takagi, A., Kitajima, S., Inoue, T., Koseki, H., Saga, Y.
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<strong>Mesp2 initiates somite segmentation through the Notch signalling pathway.</strong>
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Nature Genet. 25: 390-396, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10932180/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10932180</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10932180" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/78062" target="_blank">Full Text</a>]
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Whittock, N. V., Sparrow, D. B., Wouters, M. A., Sillence, D., Ellard, S., Dunwoodie, S. L., Turnpenny, P. D.
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<strong>Mutated MESP2 causes spondylocostal dysostosis in humans.</strong>
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Am. J. Hum. Genet. 74: 1249-1254, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15122512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15122512</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15122512[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=15122512" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1086/421053" target="_blank">Full Text</a>]
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<a id="7" class="mim-anchor"></a>
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<a id="Yasuhiko2006" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Yasuhiko, Y., Haraguchi, S., Kitajima, S., Takahashi, Y., Kanno, J., Saga, Y.
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<strong>Tbx6-mediated Notch signaling controls somite-specific Mesp2 expression.</strong>
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Proc. Nat. Acad. Sci. 103: 3651-3656, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16505380/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16505380</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16505380[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=16505380" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.0508238103" target="_blank">Full Text</a>]
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Ada Hamosh - updated : 11/12/2020
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 9/11/2008<br>Patricia A. Hartz - updated : 7/30/2007<br>Ada Hamosh - updated : 6/2/2005<br>Victor A. McKusick - updated : 5/20/2004
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Creation Date:
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<span class="mim-text-font">
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Ada Hamosh : 8/2/2000
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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 : 11/12/2020
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<span class="mim-text-font">
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carol : 06/21/2017<br>carol : 10/03/2016<br>carol : 10/13/2015<br>carol : 9/11/2014<br>carol : 12/19/2011<br>carol : 10/19/2009<br>wwang : 9/16/2008<br>ckniffin : 9/11/2008<br>mgross : 7/30/2007<br>terry : 7/30/2007<br>alopez : 12/30/2005<br>wwang : 6/7/2005<br>wwang : 6/3/2005<br>terry : 6/2/2005<br>alopez : 5/24/2004<br>alopez : 5/21/2004<br>alopez : 5/21/2004<br>terry : 5/20/2004<br>alopez : 8/2/2000<br>alopez : 8/2/2000
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<span class="mim-font">
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<strong>*</strong> 605195
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<h3>
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MESODERM POSTERIOR BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTOR 2; MESP2
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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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<h4>
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<span class="mim-font">
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MESODERM POSTERIOR PROTEIN 2
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: MESP2</em></strong>
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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: 15q26.1
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Genomic coordinates <span class="small">(GRCh38)</span> : 15:89,776,332-89,778,754 </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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</p>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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15q26.1
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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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Spondylocostal dysostosis 2, autosomal recessive
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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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608681
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal recessive
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>The MESP2 gene, a member of the basic helix-loop-helix (bHLH) family of transcriptional regulatory proteins essential to a vast array of developmental processes, is critical for normal somitogenesis in humans.</p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Saga et al. (1997) isolated a novel bHLH protein gene, called Mesp2 for 'mesoderm posterior 2,' that cross-hybridizes with Mesp1 (608689) expressed in early mouse mesoderm. Mesp2 is expressed in the rostral presomitic mesoderm, but downregulated immediately after the formation of the segmented somites. </p><p>Whittock et al. (2004) identified the MESP2 gene in the working draft of the human genome sequence. The MESP2 gene is predicted to produce a transcript of 1,191 bp encoding a protein of 397 amino acids. Human MESP2 protein shares approximately 58% identity with mouse Mesp2 and approximately 47% identity with human MESP1. The MESP2 protein contains an N-terminal bHLH region and a unique CPXCP motif immediately C-terminal to it. The N- and C-terminal regions are separated by a 13-repeat GQ region. Alignment of MESP2 homologs from human, mouse, Xenopus, and chick indicated a highly divergent C terminus between species. </p>
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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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<span class="mim-text-font">
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<p>The Notch (see 190198) signaling pathway is important in establishing metameric pattern during somitogenesis. In mice, the lack of either of 2 molecules involved in the Notch signaling pathway, Mesp2 or presenilin-1 (PS1; see 104311), results in contrasting phenotypes: caudalized versus rostralized vertebra. Takahashi et al. (2000) adopted a genetic approach to analyze the molecular mechanism underlying establishment of rostro-caudal polarity in somites. By focusing on the fact that the expression of a Notch ligand, Dll1, is important for prefiguring somite identity, Takahashi et al. (2000) found that Mesp2 initiates establishment of rostro-caudal polarity by controlling 2 Notch signaling pathways. Initially Mesp2 activates the Ps1-independent Notch signaling cascade to suppress Dll1 expression and specify the rostral half of the somite. Ps1-mediated Notch signaling is required to induce Dll1 expression in the caudal half of the somite. Therefore, Mesp2- and Ps1-dependent activation of Notch signaling pathways might differentially regulate Dll1 expression, resulting in the establishment of the rostro-caudal polarity of somites. </p><p>Morimoto et al. (2005) visualized endogenous levels of Notch1 activity in mice, showing that it oscillates in the posterior presomitic mesoderm but is arrested in the anterior presomitic mesoderm. Somite boundaries formed at the interface between Notch1-activated and -repressed domains. Genetic and biochemical studies indicated that this interface is generated by suppression of Notch activity by Mesp2 through induction of the lunatic fringe gene (LFNG; 602576). Morimoto et al. (2005) proposed that the oscillation of Notch activity is arrested and translated in the wavefront by Mesp2. </p><p>Yasuhiko et al. (2006) found that Tbx6 (602427) was essential for Mesp2 expression during somitogenesis in mouse. Tbx6 directly bound to the Mesp2 gene upstream region and mediated Notch signaling and subsequent Mesp2 transcription in the anterior presomitic mesoderm. </p><p>Matsuda et al. (2020) used human induced pluripotent stem cells for in vitro induction of presomitic mesoderm and its derivatives to model human somitogenesis, with a focus on the human segmentation clock. The authors observed oscillatory expression of core segmentation clock genes, including HES7 (608059) and DKK1 (605189), determined the period of the human segmentation clock to be around 5 hours, and demonstrated the presence of dynamic traveling wave-like gene expression in in vitro-induced human presomitic mesoderm. Identification and comparison of oscillatory genes in human and mouse presomitic mesoderm derived from pluripotent stem cells revealed species-specific and shared molecular components and pathways associated with the putative mouse and human segmentation clocks. Knockout of genes mutated in patients with segmentation defects of vertebrae, including HES7, LFNG, DLL3 (602768), and MESP2, followed by analysis of patient-like and patient-derived induced pluripotent stem cells revealed gene-specific alterations in oscillation, synchronization, or differentiation properties. </p>
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</span>
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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 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>Whittock et al. (2004) stated that the MESP2 gene has 2 exons and spans approximately 2 kb. </p>
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</span>
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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>Whittock et al. (2004) identified the MESP2 gene within the chromosome 15q26.1 region of the human genome working draft sequence. </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>Using a genomewide scanning strategy in a consanguineous family of Lebanese Arab origin with 2 offspring affected with spondylocostal dysostosis (SCDO2; 608681), Whittock et al. (2004) found a 4-bp duplication mutation in the MESP2 gene (605195.0001) that segregated with the disorder. No MESP2 mutations were found in a further 7 patients with related radiologic phenotypes in whom abnormal segmentation affected all vertebrae, nor in a further 12 patients with diverse phenotypes. Whittock et al. (2004) suggested that this form of spondylocostal dysostosis be called spondylocostal dysostosis type 2 (SCDO2) or spondylocostal dysostosis, MESP2 type. </p><p>In 12 Puerto Rican probands with SCDO2, Cornier et al. (2008) identified 3 different biallelic mutations in the MESP2 gene (605195.0002-605195.0004). The most common allele was E103X (605195.0002), consistent with a founder effect in this population. </p>
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</span>
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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>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>Saga et al. (1997) generated mice deficient in Mesp2 by targeted disruption. The homozygous Mesp2 -/- mice died shortly after birth and had fused vertebral columns and dorsal root ganglia, with impaired sclerotomal polarity. The earliest defect in the homozygous embryos was the lack of segmented somites. Their disruption of the metameric features, altered expression of Mox1 (300225), Pax1 (167411), and Dll1 (see 602768), and lack of expression of Notch1 (190198), Notch2 (600275), and FGFR1 (136350) suggested that MesP2 controls sclerotomal polarity by regulating the signaling systems mediated by Notch-Delta and FGF (e.g., 131220), which are essential for segmentation. </p>
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</span>
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<div>
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<br />
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>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 SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE</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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MESP2, 4-BP DUP, 500ACCG
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<br />
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SNP: rs113994158,
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ClinVar: RCV000005492
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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>Whittock et al. (2004) studied a consanguineous Lebanese Arab family in which 2 offspring were affected with spondylocostal dysostosis mapping to 15q26.1 (SCDO2; 608681). Affected individuals showed homozygosity for a 4-bp duplication mutation in the MESP2 gene. The 4-bp (ACCG) duplication was located in exon 1 and termed 500-503dup. The parents were heterozygous for the mutation and an unaffected sib was homozygous normal. </p><p>By in vitro functional expression studies, Cornier et al. (2008) demonstrated that the 4-bp dup mutant protein lacked transcriptional activity. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE</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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MESP2, GLU103TER
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<br />
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SNP: rs71647808,
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gnomAD: rs71647808,
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ClinVar: RCV000005493, RCV000760454
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a 12-year-old girl of Puerto Rican origin with a severe form of spondylocostal dysostosis (SCDO2; 608681), Cornier et al. (2008) identified a homozygous 307G-T transversion in exon 1 of the MESP2 gene, resulting in a glu103-to-ter (E103X) substitution in the basic helix-loop-helix domain. The mutation was predicted to produce a nonfunctional protein and be susceptible to nonsense-mediated RNA decay. The patient also had scoliosis, a tethered spinal cord, and malrotation of the right kidney. In 10 of 12 additional Puerto Rican probands with the disorder, the authors identified homozygosity for the E103X mutation. One patient was compound heterozygous for the E103X and L125V (605195.0003) mutations, and 2 sibs, who were third cousins of an E103X homozygous proband, were compound heterozygous for the E103X and E230X (605195.0004) mutations. Heterozygous carriers were unaffected. In general, E103X homozygotes were more severely affected than compound heterozygotes. The findings were consistent with a founder effect in the Puerto Rican population. In vitro functional expression studies showed that the mutant protein lacked transcriptional activity. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE</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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MESP2, LEU125VAL
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<br />
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SNP: rs71647806,
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ClinVar: RCV000005494
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>In a patient of Puerto Rican origin with spondylocostal dysostosis (SCDO2; 608681), Cornier et al. (2008) identified compound heterozygosity for 2 mutations in the MESP2 gene: a 373C-G transversion resulting in a leu125-to-val (L125V) substitution, and E103X (605195.0002). Both substitutions occurred in the basic helix-loop-helix domain. In vitro functional expression studies showed that the L125V-mutant protein lacked transcriptional activity. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 SPONDYLOCOSTAL DYSOSTOSIS 2, AUTOSOMAL RECESSIVE</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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MESP2, GLU230TER
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<br />
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SNP: rs118204035,
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ClinVar: RCV000005495
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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 sibs of Puerto Rican origin with spondylocostal dysostosis (SCDO2; 608681), Cornier et al. (2008) identified compound heterozygosity for 2 mutations in the MESP2 gene: a 688G-T transversion in exon 1 resulting in a glu230-to-ter (E230X) substitution in the C-terminal domain, and E103X (605195.0002). </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<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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Cornier, A. S., Staehling-Hampton, K., Delventhal, K. M., Saga, Y., Caubet, J.-F., Sasaki, N., Ellard, S., Young, E., Ramirez, N., Carlo, S. E., Torres, J., Emans, J. B., Turnpenny, P. D., Pourquie, O.
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<strong>Mutations in the MESP2 gene cause spondylothoracic dysostosis/Jarcho-Levin syndrome.</strong>
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Am. J. Hum. Genet. 82: 1334-1341, 2008.
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[PubMed: 18485326]
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[Full Text: https://doi.org/10.1016/j.ajhg.2008.04.014]
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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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Matsuda, M., Yamanaka, Y., Uemura, M., Osawa, M., Saito, M. K., Nagahashi, A., Nishio, M., Guo, L., Ikegawa, S., Sakurai, S., Kihara, S., Maurissen, T. L., and 10 others.
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<strong>Recapitulating the human segmentation clock with pluripotent stem cells.</strong>
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Nature 580: 124-129, 2020.
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[PubMed: 32238941]
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[Full Text: https://doi.org/10.1038/s41586-020-2144-9]
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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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Morimoto, M., Takahashi, Y., Endo, M., Saga, Y.
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<strong>The Mesp2 transcription factor establishes segmental borders by suppressing Notch activity.</strong>
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Nature 435: 354-359, 2005.
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[PubMed: 15902259]
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[Full Text: https://doi.org/10.1038/nature03591]
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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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Saga, Y., Hata, N., Koseki, H., Taketo, M. M.
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<strong>Mesp2: a novel mouse gene expressed in the presegmented mesoderm and essential for segmentation initiation.</strong>
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Genes Dev. 11: 1827-1839, 1997.
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[PubMed: 9242490]
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[Full Text: https://doi.org/10.1101/gad.11.14.1827]
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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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Takahashi, Y., Koizumi, K., Takagi, A., Kitajima, S., Inoue, T., Koseki, H., Saga, Y.
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<strong>Mesp2 initiates somite segmentation through the Notch signalling pathway.</strong>
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Nature Genet. 25: 390-396, 2000.
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[PubMed: 10932180]
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[Full Text: https://doi.org/10.1038/78062]
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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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Whittock, N. V., Sparrow, D. B., Wouters, M. A., Sillence, D., Ellard, S., Dunwoodie, S. L., Turnpenny, P. D.
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<strong>Mutated MESP2 causes spondylocostal dysostosis in humans.</strong>
|
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Am. J. Hum. Genet. 74: 1249-1254, 2004.
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[PubMed: 15122512]
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[Full Text: https://doi.org/10.1086/421053]
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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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Yasuhiko, Y., Haraguchi, S., Kitajima, S., Takahashi, Y., Kanno, J., Saga, Y.
|
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<strong>Tbx6-mediated Notch signaling controls somite-specific Mesp2 expression.</strong>
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Proc. Nat. Acad. Sci. 103: 3651-3656, 2006.
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[PubMed: 16505380]
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[Full Text: https://doi.org/10.1073/pnas.0508238103]
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</p>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<div class="row">
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
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<span class="text-nowrap mim-text-font">
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Contributors:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Ada Hamosh - updated : 11/12/2020<br>Cassandra L. Kniffin - updated : 9/11/2008<br>Patricia A. Hartz - updated : 7/30/2007<br>Ada Hamosh - updated : 6/2/2005<br>Victor A. McKusick - updated : 5/20/2004
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</span>
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</div>
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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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