3248 lines
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Entry
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- *147183 - RECOMBINATION SIGNAL-BINDING PROTEIN FOR IMMUNOGLOBULIN KAPPA J REGION; RBPJ
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- OMIM
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<p>
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<span class="h4">*147183</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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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="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#geneStructure">Gene Structure</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/147183">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 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=ENSG00000168214;t=ENST00000355476" 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=3516" 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=147183" 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=ENSG00000168214;t=ENST00000355476" 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_001363577,NM_001374400,NM_001374401,NM_001374402,NM_001374403,NM_001379406,NM_001379407,NM_001379408,NM_001379409,NM_005349,NM_015874,NM_203283,NM_203284,XM_011513840,XM_017008171,XM_047415656,XM_047415657,XM_047415658" 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_015874" 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=147183" 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=00920&isoform_id=00920_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/RBPJ" 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/190953,190955,190957,553639,1220320,2326267,40675554,42560223,42560227,42560229,54035076,119613252,119613253,119613254,119613255,194378838,221044494,338817983,444738499,767929782,1034639777,1391723665,1751363227,1751363248,1751363265,1751363296,1827625713,1827625794,1827625796,1827625802,1898807825,2217350550,2217350553,2217350556,2462597063,2462597065,2462597067" 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/Q06330" 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=3516" 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=ENSG00000168214;t=ENST00000355476" 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=RBPJ" 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=RBPJ" 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+3516" 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/RBPJ" 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:3516" 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/3516" 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=chr4&hgg_gene=ENST00000355476.8&hgg_start=26105449&hgg_end=26435131&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://medlineplus.gov/genetics/gene/rbpj" 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=147183[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=147183[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://www.deciphergenomics.org/gene/RBPJ/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000168214" 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=RBPJ" 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=RBPJ" 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=RBPJ" 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=RBPJ&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/PA34292" 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:5724" 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/FBgn0004837.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:96522" 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/RBPJ#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:96522" 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/3516/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=3516" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00002245;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-031117-1" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:3516" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=RBPJ&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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147183
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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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RECOMBINATION SIGNAL-BINDING PROTEIN FOR IMMUNOGLOBULIN KAPPA J REGION; RBPJ
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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">
|
|
RECOMBINATION SIGNAL-BINDING PROTEIN SUPPRESSOR OF HAIRLESS, DROSOPHILA, HOMOLOG OF; RBPSUH<br />
|
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IMMUNOGLOBULIN KAPPA J REGION RECOMBINATION SIGNAL-BINDING PROTEIN 1; IGKJRB1<br />
|
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RECOMBINATION SIGNAL-BINDING PROTEIN 1 FOR J-KAPPA; RBPJK; RBPJ<br />
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C PROMOTER-BINDING FACTOR 1; CBF1
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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=RBPJ" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">RBPJ</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/4/139?start=-3&limit=10&highlight=139">4p15.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr4:26105449-26435131&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'})">4:26,105,449-26,435,131</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/4/139?start=-3&limit=10&highlight=139">
|
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4p15.2
|
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</a>
|
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</span>
|
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</td>
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<td>
|
|
<span class="mim-font">
|
|
Adams-Oliver syndrome 3
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/614814"> 614814 </a>
|
|
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<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/147183" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/147183" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<p>The vast diversity of specificities in antigen recognition is primarily generated by the somatic combinatorial assembly of multiple germline DNA segments called variable (V), diversity (D), and joining (J) in immunoglobulin and T-cell receptor genes. Each segment of V, D, and J is flanked by a recombination-recognition sequence (RS) consisting of a palindromic heptanucleotide sequence and an AT-rich nonameric sequence separated by either 12 or 23 bp of spacer sequence. The heptamer and nonamer sequences are highly conserved during evolution, whereas the spacer sequences are not. Several lines of evidence indicate that the V(D)J recombination processes are directed by the recognition of the RS. The genes involved in V(D)J recombination include RAG1 (<a href="/entry/179615">179615</a>) and RAG2 (<a href="/entry/179616">179616</a>) in the mouse. The Igkjrb protein, identified in nuclear extracts from a mouse pre-B-cell line as a binding protein specific to Jk-type RS, may also be involved. The IGKJRB gene is well conserved among many species such as human, mouse, Xenopus, and Drosophila. Using cDNA fragments of the mouse Igkjrb, <a href="#1" class="mim-tip-reference" title="Amakawa, R., Jing, W., Ozawa, K., Matsunami, N., Hamaguchi, Y., Matsuda, F., Kawaichi, M., Honjo, T. <strong>Human Jk recombination signal binding protein gene (IGKJRB): comparison with its mouse homologue.</strong> Genomics 17: 306-315, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8406481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8406481</a>] [<a href="https://doi.org/10.1006/geno.1993.1326" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8406481">Amakawa et al. (1993)</a> isolated its human counterpart, IGKJRB. Three types of cDNA with different 5-prime sequences were isolated, suggesting the presence of 3 protein isoforms. Two of these may be specific to human cells because the mouse counterparts were not detected. The amino acid sequences of the human and mouse genes are 98% identical in exons 2 through 11, whereas the homology of the human and mouse exon 1 sequences were 75%. A possible wider role for the RBP-Jk protein is suggested by the fact that in Drosophila the homologous gene is involved in the development of the peripheral nervous system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8406481" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#5" class="mim-tip-reference" title="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 2/3/2011."None>Gross (2011)</a> mapped the RBPJ gene to chromosome 4p15.2 based on an alignment of the RBPJ sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AK302230" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AK302230</a>) with the genomic sequence (GRCh37).</p><p><strong><em>Pseudogenes</em></strong></p><p>
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By fluorescence in situ hybridization (FISH), <a href="#1" class="mim-tip-reference" title="Amakawa, R., Jing, W., Ozawa, K., Matsunami, N., Hamaguchi, Y., Matsuda, F., Kawaichi, M., Honjo, T. <strong>Human Jk recombination signal binding protein gene (IGKJRB): comparison with its mouse homologue.</strong> Genomics 17: 306-315, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8406481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8406481</a>] [<a href="https://doi.org/10.1006/geno.1993.1326" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8406481">Amakawa et al. (1993)</a> demonstrated that the functional IGKJRB gene is localized at 3q25 and the 2 pseudogenes at 9p13 and 9q13. (The 2 pseudogenes, located on different arms of chromosome 9, showed 91% homology with the cDNA for 1 of the 3 IGKJRB proteins. The processed pseudogenes differ from each other. <a href="#1" class="mim-tip-reference" title="Amakawa, R., Jing, W., Ozawa, K., Matsunami, N., Hamaguchi, Y., Matsuda, F., Kawaichi, M., Honjo, T. <strong>Human Jk recombination signal binding protein gene (IGKJRB): comparison with its mouse homologue.</strong> Genomics 17: 306-315, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8406481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8406481</a>] [<a href="https://doi.org/10.1006/geno.1993.1326" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8406481">Amakawa et al. (1993)</a> suggested the following evolutionary mechanism for their generation: the primordial pseudogene evolved from mRNA which was incorporated into a region at chromosome 9p13. The next processes could be recent events, including duplication of the primordial pseudogene, chromosomal inversion involving 9p13 and 9q13, and subsequent divergence by point mutations, nucleotide insertions, and deletions. Examination of peripheral lymphocytes by Southern blot analysis demonstrated that the genomes of 8 out of 22 individuals lacked pseudogene 2 located at 9q13.) By FISH, <a href="#14" class="mim-tip-reference" title="Tang, X., Saito-Ohara, F., Song, J., Koga, C., Ugai, H., Murakami, H., Ikeuchi, T., Yokoyama, K. K. <strong>Assignment of the human gene for KBF2/RBP-Jk to chromosome 9p12-13 and 9q13 by fluorescence in situ hybridization.</strong> Jpn. J. Hum. Genet. 42: 337-341, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9290259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9290259</a>] [<a href="https://doi.org/10.1007/BF02766956" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9290259">Tang et al. (1997)</a> failed to find a locus for the functional gene on 3q25 and found instead that the functional gene was localized to 9p13-p12 and 9q13, 2 sites where pseudogenes had previously been assigned by <a href="#1" class="mim-tip-reference" title="Amakawa, R., Jing, W., Ozawa, K., Matsunami, N., Hamaguchi, Y., Matsuda, F., Kawaichi, M., Honjo, T. <strong>Human Jk recombination signal binding protein gene (IGKJRB): comparison with its mouse homologue.</strong> Genomics 17: 306-315, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8406481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8406481</a>] [<a href="https://doi.org/10.1006/geno.1993.1326" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8406481">Amakawa et al. (1993)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8406481+9290259" 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="#8" class="mim-tip-reference" title="Henkel, T., Ling, P. D., Hayward, S. D., Peterson, M. G. <strong>Mediation of Epstein-Barr virus EBNA2 transactivation by recombination signal-binding protein J kappa.</strong> Science 265: 92-95, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8016657/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8016657</a>] [<a href="https://doi.org/10.1126/science.8016657" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8016657">Henkel et al. (1994)</a> determined that CBF1 is identical to IGKJRB1. <a href="#3" class="mim-tip-reference" title="Christensen, S., Kodoyianni, V., Bosenberg, M., Friedman, L., Kimble, J. <strong>Lag-1, a gene required for lin-12 and glp-1 signaling in Caenorhabditis elegans, is homologous to human CBF1 and Drosophila Su(H).</strong> Development 122: 1373-1383, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8625826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8625826</a>] [<a href="https://doi.org/10.1242/dev.122.5.1373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8625826">Christensen et al. (1996)</a> found that the product of the worm Lag1 gene, like CBF1 and the Drosophila homolog 'suppressor of hairless,' binds specifically to the consensus DNA sequence RTGGGAA (see also <a href="#17" class="mim-tip-reference" title="Tun, T., Hamaguchi, Y., Matsunami, N., Furukawa, T., Honjo, T., Kawaichi, M. <strong>Recognition sequences of a highly conserved DNA binding protein RBP-J kappa.</strong> Nucleic Acids Res. 22: 965-971, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8152928/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8152928</a>] [<a href="https://doi.org/10.1093/nar/22.6.965" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8152928">Tun et al. (1994)</a>). This family of DNA-binding factors that mediate transcriptional activation or repression is designated CSL. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8016657+8625826+8152928" 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>RBPJ functions immediately downstream of Notch signaling (see <a href="/entry/190198">190198</a>). <a href="#6" class="mim-tip-reference" title="Han, H., Tanigaki, K., Yamamoto, N., Kuroda, K., Yoshimoto, M., Nakahata, T., Ikuta, K., Honjo, T. <strong>Inducible gene knockout of transcription factor recombination signal binding protein-J reveals its essential role in T versus B lineage decision.</strong> Int. Immun. 14: 637-645, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12039915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12039915</a>] [<a href="https://doi.org/10.1093/intimm/dxf030" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12039915">Han et al. (2002)</a> used a conditional gene knockout strategy to inactivate the DNA-binding domain of Rbpj in mouse bone marrow and found that Rbpj was required for T-cell development. In the absence of Rbpj, there was an increase in thymic B-cell development. <a href="#6" class="mim-tip-reference" title="Han, H., Tanigaki, K., Yamamoto, N., Kuroda, K., Yoshimoto, M., Nakahata, T., Ikuta, K., Honjo, T. <strong>Inducible gene knockout of transcription factor recombination signal binding protein-J reveals its essential role in T versus B lineage decision.</strong> Int. Immun. 14: 637-645, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12039915/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12039915</a>] [<a href="https://doi.org/10.1093/intimm/dxf030" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12039915">Han et al. (2002)</a> proposed that RBPJ, by mediating Notch signaling, controls T- versus B-cell fate decisions in lymphoid progenitors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12039915" 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>Thymocytes can be divided into 4 subsets based on CD4 (<a href="/entry/186940">186940</a>) and CD8 (see <a href="/entry/186910">186910</a>) expression, with double-negative (DN) cells being the least mature. The DN population can be further subdivided into 4 subsets, DN1 through DN4. <a href="#15" class="mim-tip-reference" title="Tanigaki, K., Tsuji, M., Yamamoto, N., Han, H., Tsukada, J., Inoue, H., Kubo, M., Honjo, T. <strong>Regulation of alpha-beta/gamma-delta T cell lineage commitment and peripheral T cell responses by Notch/RBP-J signaling.</strong> Immunity 20: 611-622, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15142529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15142529</a>] [<a href="https://doi.org/10.1016/s1074-7613(04)00109-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15142529">Tanigaki et al. (2004)</a> used a conditional knockout strategy to inactivate Rbpj at the DN2 and DN4 stages in mice. Inactivation at DN2 resulted in severe developmental arrest of alpha-beta T cells at the DN3 stage and enhanced generation of gamma-delta T cells. Inactivation at DN4 caused no abnormalities in CD4/CD8 lineage commitment, but it resulted in enhanced Th1 responses and reduced T-cell proliferation. <a href="#15" class="mim-tip-reference" title="Tanigaki, K., Tsuji, M., Yamamoto, N., Han, H., Tsukada, J., Inoue, H., Kubo, M., Honjo, T. <strong>Regulation of alpha-beta/gamma-delta T cell lineage commitment and peripheral T cell responses by Notch/RBP-J signaling.</strong> Immunity 20: 611-622, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15142529/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15142529</a>] [<a href="https://doi.org/10.1016/s1074-7613(04)00109-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15142529">Tanigaki et al. (2004)</a> concluded that Notch/RBPJ signaling regulates not only the T-cell developmental process, but also the direction and magnitude of immune responses via regulation of peripheral T cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15142529" 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="#18" class="mim-tip-reference" title="van Es, J. H., van Gijn, M. E., Riccio, O., van den Born, M., Vooijs, M., Begthel, H., Cozijnsen, M., Robine, S., Winton, D. J., Radtke, F., Clevers, H. <strong>Notch/gamma-secretase inhibition turns proliferative cells in intestinal crypts and adenomas into goblet cells. (Letter)</strong> Nature 435: 959-963, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15959515/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15959515</a>] [<a href="https://doi.org/10.1038/nature03659" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15959515">Van Es et al. (2005)</a> showed a rapid, massive conversion of proliferative crypt cells into postmitotic goblet cells after conditional removal of the common Notch pathway transcription factor CSL/RBP-J. The authors obtained a similar phenotype by blocking the Notch cascade with a gamma-secretase inhibitor. The inhibitor also induced goblet cell differentiation in adenomas in mice carrying a mutation of the Apc tumor suppressor gene (<a href="/entry/611731">611731</a>). Thus, maintenance of undifferentiated, proliferative cells in crypts and adenomas requires the concerted activation of the Notch and Wnt cascades. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15959515" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Siekmann, A. F., Lawson, N. D. <strong>Notch signalling limits angiogenic cell behaviour in developing zebrafish arteries.</strong> Nature 445: 781-784, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17259972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17259972</a>] [<a href="https://doi.org/10.1038/nature05577" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17259972">Siekmann and Lawson (2007)</a> demonstrated that Notch signaling is necessary to restrict angiogenic cell behavior to tip cells in developing segmental arteries in the zebrafish embryo. In the absence of the Notch signaling component Rbpsuh, <a href="#13" class="mim-tip-reference" title="Siekmann, A. F., Lawson, N. D. <strong>Notch signalling limits angiogenic cell behaviour in developing zebrafish arteries.</strong> Nature 445: 781-784, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17259972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17259972</a>] [<a href="https://doi.org/10.1038/nature05577" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17259972">Siekmann and Lawson (2007)</a> observed excessive sprouting of segmental arteries, whereas Notch activation suppressed angiogenesis. Through mosaic analysis they found that cells lacking Rbpsuh preferentially localized to the terminal position in developing sprouts. In contrast, cells in which Notch signaling had been activated were excluded from the tip cell position. In vivo time-lapse analysis revealed that endothelial tip cells undergo a stereotypical pattern of proliferation and migration during sprouting. In the absence of Notch, nearly all sprouting endothelial cells exhibited tip cell behavior, leading to excessive numbers of cells within segmental arteries. Furthermore, <a href="#13" class="mim-tip-reference" title="Siekmann, A. F., Lawson, N. D. <strong>Notch signalling limits angiogenic cell behaviour in developing zebrafish arteries.</strong> Nature 445: 781-784, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17259972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17259972</a>] [<a href="https://doi.org/10.1038/nature05577" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17259972">Siekmann and Lawson (2007)</a> found that Flt4 (<a href="/entry/136352">136352</a>) is expressed in segmental artery tip cells and became ectopically expressed throughout the sprout in the absence of Notch. Loss of Flt4 could partially restore normal endothelial cell number in Rbpsuh-deficient segmental arteries. Finally, loss of the Notch ligand Dll4 (<a href="/entry/605185">605185</a>) also led to an increased number of endothelial cells within segmental arteries. <a href="#13" class="mim-tip-reference" title="Siekmann, A. F., Lawson, N. D. <strong>Notch signalling limits angiogenic cell behaviour in developing zebrafish arteries.</strong> Nature 445: 781-784, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17259972/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17259972</a>] [<a href="https://doi.org/10.1038/nature05577" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17259972">Siekmann and Lawson (2007)</a> concluded that their studies taken together indicated that proper specification of cell identity, position, and behavior in a developing blood vessel sprout is required for normal angiogenesis, and implicated the Notch signaling pathway in this process. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17259972" 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>PTF1A (<a href="/entry/607194">607194</a>) is a basic helix-loop-helix transcription factor required for pancreatic development. <a href="#11" class="mim-tip-reference" title="Masui, T., Long, Q., Beres, T. M., Magnuson, M. A., MacDonald, R. J. <strong>Early pancreatic development requires the vertebrate suppressor of hairless (RBPJ) in the PTF1 bHLH complex.</strong> Genes Dev. 21: 2629-2643, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17938243/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17938243</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17938243[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/10.1101/gad.1575207" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17938243">Masui et al. (2007)</a> found that Ptf1a interacted with Rbpj within a stable trimeric DNA-binding complex (PTF1) during early pancreatic development in mouse. As acinar cell development began, Rbpj was swapped for Rbpjl, the constitutively active, pancreas-restricted Rbpj paralog, and Rbpjl was a direct target of the PTF1 complex. At the onset of acinar cell development, when the Rbpjl gene was first induced, a PTF1 complex containing Rbpj bound to the Rbpjl promoter. As development proceeded, Rbpjl gradually replaced Rbpj in the PTF1 complex bound to the Rbpjl promoter and appeared on the PTF1 complex-binding sites on the promoters of other acinar-specific genes, including those for secretory digestive enzymes. Introduction of a Ptf1a mutant unable to bind Rbpj truncated pancreatic development at an immature stage, without the formation of acini or islets. The action of Rbpj within the PTF1 complex was independent of its role in Notch signaling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17938243" 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="#12" class="mim-tip-reference" title="Mizutani, K., Yoon, K., Dang, L., Tokunaga, A., Gaiano, N. <strong>Differential Notch signalling distinguishes neural stem cells from intermediate progenitors.</strong> Nature 449: 351-355, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17721509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17721509</a>] [<a href="https://doi.org/10.1038/nature06090" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17721509">Mizutani et al. (2007)</a> showed that both neural stem cells and intermediate neural progenitors respond to Notch receptor activation, but that neural stem cells signal through the canonic Notch effector CBF1, whereas intermediate neural progenitors have attenuated CBF1 signaling. Furthermore, whereas knockdown of CBF1 promotes the conversion of neural stem cells to intermediate neural progenitors, activation of CBF1 is insufficient to convert intermediate neural progenitors back to neural stem cells. Using both transgenic and transient in vivo reporter assays, <a href="#12" class="mim-tip-reference" title="Mizutani, K., Yoon, K., Dang, L., Tokunaga, A., Gaiano, N. <strong>Differential Notch signalling distinguishes neural stem cells from intermediate progenitors.</strong> Nature 449: 351-355, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17721509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17721509</a>] [<a href="https://doi.org/10.1038/nature06090" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17721509">Mizutani et al. (2007)</a> showed that neural stem cells and intermediate neural progenitors coexist in the telencephalic ventricular zone of mice and that they can be prospectively separated on the basis of CBF1 activity. Furthermore, using in vivo transplantation, they showed that whereas neural stem cells generate neurons, astrocytes, and oligodendrocytes at similar frequencies, intermediate neural progenitors are predominantly neurogenic. <a href="#12" class="mim-tip-reference" title="Mizutani, K., Yoon, K., Dang, L., Tokunaga, A., Gaiano, N. <strong>Differential Notch signalling distinguishes neural stem cells from intermediate progenitors.</strong> Nature 449: 351-355, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17721509/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17721509</a>] [<a href="https://doi.org/10.1038/nature06090" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17721509">Mizutani et al. (2007)</a> concluded that their study, together with previous work on hematopoietic stem cells, suggested the use or blockade of the CBF1 cascade downstream of Notch as a general feature distinguishing stem cells from more limited progenitors in a variety of tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17721509" 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>Notch signaling regulates gene expression for specification of cell fate in diverse tissues during development and adult tissue renewal. In response to ligand binding, the intracellular domain (ICD) of Notch is proteolytically released by the gamma-secretase complex (see <a href="/entry/104311">104311</a>) and translocates to the nucleus, where it binds CSL and triggers its conversion from a repressor to an activator of Notch target gene expression. <a href="#4" class="mim-tip-reference" title="Engel, M. E., Nguyen, H. N., Mariotti, J., Hunt, A., Hiebert, S. W. <strong>Myeloid translocation gene 16 (MTG16) interacts with Notch transcription complex components to integrate Notch signaling in hematopoietic cell fate specification.</strong> Molec. Cell. Biol. 30: 1852-1863, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20123979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20123979</a>] [<a href="https://doi.org/10.1128/MCB.01342-09" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20123979">Engel et al. (2010)</a> found that Mtg16 (CBFA2T3; <a href="/entry/603870">603870</a>) -/- mouse hematopoietic progenitor cells showed elevated expression of Notch targets, in addition to impaired differentiation, in response to Notch signaling. The defect was reversed by restoration of Mtg16 expression. Using mouse and human cells, <a href="#4" class="mim-tip-reference" title="Engel, M. E., Nguyen, H. N., Mariotti, J., Hunt, A., Hiebert, S. W. <strong>Myeloid translocation gene 16 (MTG16) interacts with Notch transcription complex components to integrate Notch signaling in hematopoietic cell fate specification.</strong> Molec. Cell. Biol. 30: 1852-1863, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20123979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20123979</a>] [<a href="https://doi.org/10.1128/MCB.01342-09" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20123979">Engel et al. (2010)</a> showed that all MTG family proteins bound CSL and that MTG16 bound the ICDs of all Notch receptor proteins. Binding of MTG16 to Notch ICD disrupted MTG16-CSL and MTG16-NCOR (see <a href="/entry/600849">600849</a>) interactions and permitted Notch signaling. Mutation and coprecipitation analysis revealed that the N-terminal PST region of MTG16 interacted directly with Notch ICD and that binding was independent of the MTG16 NTR domains required for DNA, CSL, and histone deacetylase binding. The PST region of Mtg16 was also essential for Mtg16-dependent lineage specification in mouse hematopoietic progenitor cells. <a href="#4" class="mim-tip-reference" title="Engel, M. E., Nguyen, H. N., Mariotti, J., Hunt, A., Hiebert, S. W. <strong>Myeloid translocation gene 16 (MTG16) interacts with Notch transcription complex components to integrate Notch signaling in hematopoietic cell fate specification.</strong> Molec. Cell. Biol. 30: 1852-1863, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20123979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20123979</a>] [<a href="https://doi.org/10.1128/MCB.01342-09" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20123979">Engel et al. (2010)</a> concluded that MTG16 is an integral component of Notch signaling that contributes to basal repression of canonical Notch target genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20123979" 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="#16" class="mim-tip-reference" title="Tong, X., Gui, H., Jin, F., Heck, B. W., Lin, P., Ma, J., Fondell, J. D., Tsai, C.-C. <strong>Ataxin-1 and brother of ataxin-1 are components of the Notch signalling pathway.</strong> EMBO Rep. 12: 428-435, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21475249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21475249</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21475249[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/embor.2011.49" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21475249">Tong et al. (2011)</a> found that expression of human BOAT1 (ATXN1L; <a href="/entry/614301">614301</a>) in Drosophila wing disrupted Notch signaling, leading to wing defects. Coimmunoprecipitation analysis of HEK293 cells revealed that both BOAT1 and ATXN1 (<a href="/entry/601556">601556</a>) precipitated CBF1, which functions as a transcriptional activator when associated with NICD. Protein pull-down and yeast 2-hybrid analyses confirmed the interactions and showed that BOAT1 and ATXN1 competed for CBF1 binding. Coimmunoprecipitation experiments showed that NICD disrupted CBF1-BOAT/ATXN1 interactions. Reporter gene assays revealed that both BOAT1 and ATXN1 inhibited CBF1 activity at the promoter for HEY1 (<a href="/entry/602953">602953</a>), a Notch target gene. Chromatin immunoprecipitation assays showed that Boat1 and Atxn1, in addition to Smrt (NCOR2; <a href="/entry/600848">600848</a>), occupied the Hey1 promoter in differentiating mouse C2C12 myoblasts. Atxn1 bound the Hey1 promoter transiently, whereas Boat1 and Smrt remained bound to the Hey1 promoter under the same conditions. <a href="#16" class="mim-tip-reference" title="Tong, X., Gui, H., Jin, F., Heck, B. W., Lin, P., Ma, J., Fondell, J. D., Tsai, C.-C. <strong>Ataxin-1 and brother of ataxin-1 are components of the Notch signalling pathway.</strong> EMBO Rep. 12: 428-435, 2011.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/21475249/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">21475249</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=21475249[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/embor.2011.49" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="21475249">Tong et al. (2011)</a> concluded that BOAT1 and ATXN1 are chromatin-binding factors that repress Notch signaling in the absence of NCID by acting as CBF1 corepressors. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=21475249" 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>The COX4I2 gene (<a href="/entry/607976">607976</a>) contains a conserved oxygen response element (ORE) that is maximally active at a concentration of 4% oxygen. Using a yeast 1-hybrid screen to identify transcription factors binding the 13-bp ORE of human COX4I2, followed by DNA binding assays, <a href="#2" class="mim-tip-reference" title="Aras, S., Pak, O., Sommer, N., Finley Jr., R., Huttemann, M., Weissmann, N., Grossman, L. I. <strong>Oxygen-dependent expression of cytochrome c oxidase subunit 4-2 gene expression is mediated by transcription factors RBPJ, CXXC5, and CHCHD2.</strong> Nucleic Acids Res. 41: 2255-2266, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23303788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23303788</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23303788[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/nar/gks1454" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23303788">Aras et al. (2013)</a> detected binding by CHCHD2 (<a href="/entry/616244">616244</a>), CXXC5 (<a href="/entry/612752">612752</a>), and RBPJ, but not by HIF1A (<a href="/entry/603348">603348</a>). Luciferase analysis showed that RBPJ and CHCHD2 functioned as activators of the ORE, whereas CXXC5 repressed it. Coimmunoprecipitation analysis showed that RBPJ interacted with both CHCHD2 and CXXC5. Treatment of rat primary lung cells with small interfering RNA to Chchd2 or Rbpj resulted in a significant decrease in Cox4i2 expression. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23303788" 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 immunohistochemical analysis, <a href="#10" class="mim-tip-reference" title="Kulic, I., Robertson, G., Chang, L., Baker, J. H. E., Lockwood, W. W., Mok, W., Fuller, M., Fournier, M., Wong, N., Chou, V., Robinson, M. D., Chun, H.-J., and 9 others. <strong>Loss of the Notch effector RBPJ promotes tumorigenesis.</strong> J. Exp. Med. 212: 37-52, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25512468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25512468</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25512468[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/10.1084/jem.20121192" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25512468">Kulic et al. (2015)</a> observed frequent depletion of RBPJ in human breast tumors, confirming microarray data. Implantation of human tumor cells after RBPJ depletion into immunodeficient mice resulted in enhanced tumor growth. Knockdown of RBPJ caused significant upregulation of NOTCH target genes, such as HEY1, HES1 (<a href="/entry/139605">139605</a>), SNAIL1 (SNAI1; <a href="/entry/604238">604238</a>), and GUCY1A3 (<a href="/entry/139396">139396</a>), as well as MMP1 (<a href="/entry/120353">120353</a>), suggesting that RBPJ deficiency results in a NOTCH-like gene signature with RBPJ activating a subset of NOTCH target genes. RBPJ depletion caused epigenetic changes corresponding to promoter activity, as shown by EMSA, chromatin immunoprecipitation, and real-time quantitative PCR. Functional studies showed that RBPJ deficiency increased tumor cell survival, possibly, by enabling MYC (<a href="/entry/190080">190080</a>) and NFKB (see <a href="/entry/164011">164011</a>) activation. <a href="#10" class="mim-tip-reference" title="Kulic, I., Robertson, G., Chang, L., Baker, J. H. E., Lockwood, W. W., Mok, W., Fuller, M., Fournier, M., Wong, N., Chou, V., Robinson, M. D., Chun, H.-J., and 9 others. <strong>Loss of the Notch effector RBPJ promotes tumorigenesis.</strong> J. Exp. Med. 212: 37-52, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/25512468/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">25512468</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=25512468[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/10.1084/jem.20121192" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="25512468">Kulic et al. (2015)</a> concluded that loss of RBPJ derepresses target gene promoters, allowing NOTCH-independent activation by alternate transcription factors that promote tumorigenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=25512468" 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 yeast 2-hybrid, coimmunoprecipitation, and pull-down analyses, <a href="#20" class="mim-tip-reference" title="Xu, T., Park, S.-S., Giaimo, B. D., Hall, D., Ferrante, F., Ho, D. M., Hori, K., Anhezini, L., Ertl, I., Bartkuhn, M., Zhang, H., Milon, E., and 15 others. <strong>RBPJ/CBF1 interacts with L3MBTL3/MBT1 to promote repression of Notch signaling via histone demethylase KDM1A/LSD1.</strong> EMBO J. 36: 3232-3249, 2017.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29030483/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29030483</a>] [<a href="https://doi.org/10.15252/embj.201796525" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29030483">Xu et al. (2017)</a> found that human L3MBTL3 (<a href="/entry/618844">618844</a>) interacted directly with RBPJ. Mutation analysis showed that the interaction required the N-terminal region of L3MBTL3 and the beta-trefoil domain (BTD) of RBPJ. The Notch ICD also interacted with the BTD of RBPJ, allowing competition between L3MBTL3 and the Notch ICD for RBPJ binding. Thermodynamic analysis showed that the Notch ICD could outcompete L3MBTL3 for binding to RBPJ. However, in the absence of Notch signaling, interaction with L3MBTL3 allowed RBPJ to recruit L3MBTL3 on chromatin to repress expression of Notch target genes. L3MBTL3 also interacted with KDM1A (<a href="/entry/609132">609132</a>), a histone demethylase, and linked KDM1A to Notch-responsive elements. KDM1A interacted with RBPJ and promoted demethylation of dimethylated lys4 of histone H3 (see <a href="/entry/602810">602810</a>), resulting in repression of Notch target gene expression. Genetic analysis in Drosophila and C. elegans demonstrated that the RBPJ-L3MBTL3 interaction was evolutionarily conserved in metazoans. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29030483" 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 variant-filtering strategy to perform exome resequencing in 2 unrelated families with Adams-Oliver syndrome (AOS3; <a href="/entry/614814">614814</a>), <a href="#7" class="mim-tip-reference" title="Hassed, S. J., Wiley, G. B., Wang, S., Lee, J.-Y., Li, S., Xu, W., Zhao, Z. J., Mulvihill, J. J., Robertson, J., Warner, J., Gaffney, P. M. <strong>RBPJ mutations identified in two families affected by Adams-Oliver syndrome.</strong> Am. J. Hum. Genet. 91: 391-395, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22883147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22883147</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22883147[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.2012.07.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22883147">Hassed et al. (2012)</a> identified 2 different heterozygous missense mutations in the RBPJ gene (<a href="#0001">147183.0001</a> and <a href="#0002">147183.0002</a>) that segregated with disease in each family. Functional analysis confirmed impaired DNA binding of mutant RBPJ. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22883147" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Amakawa, R., Jing, W., Ozawa, K., Matsunami, N., Hamaguchi, Y., Matsuda, F., Kawaichi, M., Honjo, T. <strong>Human Jk recombination signal binding protein gene (IGKJRB): comparison with its mouse homologue.</strong> Genomics 17: 306-315, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8406481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8406481</a>] [<a href="https://doi.org/10.1006/geno.1993.1326" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8406481">Amakawa et al. (1993)</a> demonstrated that the functional IGKJRB gene contains 13 exons and spans at least 67 kb. The human genome contains 1 functional IGKJRB gene and 2 types of processed pseudogenes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8406481" 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>RBPSUH and DLL4 (<a href="/entry/605185">605185</a>) are both involved in Notch signaling. <a href="#9" class="mim-tip-reference" title="Krebs, L. T., Shutter, J. R., Tanigaki, K., Honjo, T., Stark, K. L., Gridley, T. <strong>Haploinsufficient lethality and formation of arteriovenous malformations in Notch pathway mutants.</strong> Genes Dev. 18: 2469-2473, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15466160/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15466160</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15466160[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/10.1101/gad.1239204" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15466160">Krebs et al. (2004)</a> showed that Dll4 haploinsufficiency or Rbpsuh knockout in mice resulted in severe vascular defects leading to embryonic lethality. Rbpsuh -/- embryos did not express several arterial-specific endothelial cell markers. Conditional inactivation of Rbpsuh function demonstrated that Notch activation was essential in the endothelial cell lineage. Dll4 and Rbpsuh mutant embryos also exhibited arteriovenous malformations, likely due to an inability to establish and maintain distinct arterial-venous vascular beds. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15466160" 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="#19" class="mim-tip-reference" title="Wang, C., Inzana, J. A., Mirando, A. J., Ren, Y., Liu, Z., Shen, J., O'Keefe, R. J., Awad, H. A., Hilton, M. J. <strong>NOTCH signaling in skeletal progenitors is critical for fracture repair.</strong> J. Clin. Invest. 126: 1471-1481, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26950423/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26950423</a>] [<a href="https://doi.org/10.1172/JCI80672" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26950423">Wang et al. (2016)</a> found that after fractures, mice with a conditional deletion of Rbpjk in skeletal progenitor cells had persistent callus formation along the periosteum without bridging between the cortices. Histologic analysis and assessment of mechanical competence indicated both delayed fracture repair and complete nonunion of fractured bone. Immunofluorescence microscopy demonstrated depletion of bone marrow stromal/stem cells (BMSCs) with altered differentiation potential rather than altered vascularization or osteoclast numbers in Rbpjk mutant mice. <a href="#19" class="mim-tip-reference" title="Wang, C., Inzana, J. A., Mirando, A. J., Ren, Y., Liu, Z., Shen, J., O'Keefe, R. J., Awad, H. A., Hilton, M. J. <strong>NOTCH signaling in skeletal progenitors is critical for fracture repair.</strong> J. Clin. Invest. 126: 1471-1481, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26950423/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26950423</a>] [<a href="https://doi.org/10.1172/JCI80672" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26950423">Wang et al. (2016)</a> concluded that NOTCH signaling and BMSCs are required for fracture repair, irrespective of stability and vascularity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26950423" 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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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=147183[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">rs387907270 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907270;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=rs387907270" 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=rs387907270" 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 father and daughter with Adams-Oliver syndrome (AOS3; <a href="/entry/614814">614814</a>), <a href="#7" class="mim-tip-reference" title="Hassed, S. J., Wiley, G. B., Wang, S., Lee, J.-Y., Li, S., Xu, W., Zhao, Z. J., Mulvihill, J. J., Robertson, J., Warner, J., Gaffney, P. M. <strong>RBPJ mutations identified in two families affected by Adams-Oliver syndrome.</strong> Am. J. Hum. Genet. 91: 391-395, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22883147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22883147</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22883147[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.2012.07.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22883147">Hassed et al. (2012)</a> identified heterozygosity for a 188A-G transition in the RBPJ gene, resulting in a glu63-to-gly (E63G) substitution in the highly conserved DNA-binding domain. Functional analysis using an oligonucleotide corresponding to a canonical RBPJ binding site in the promoter of HES1 (<a href="/entry/139605">139605</a>) demonstrated that whereas wildtype RBPJ formed a specific complex with the probe, the E63G mutant did not exhibit any specific binding complex; similarly, in live cells, the E63G mutant showed decreased binding to the HES1 promoter compared to wildtype RBPJ. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22883147" 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">rs387907271 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs387907271;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=rs387907271" 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=rs387907271" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000030708" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000030708" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000030708</a>
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<p>In affected individuals from a 3-generation family with Adams-Oliver syndrome (AOS3; <a href="/entry/614814">614814</a>), <a href="#7" class="mim-tip-reference" title="Hassed, S. J., Wiley, G. B., Wang, S., Lee, J.-Y., Li, S., Xu, W., Zhao, Z. J., Mulvihill, J. J., Robertson, J., Warner, J., Gaffney, P. M. <strong>RBPJ mutations identified in two families affected by Adams-Oliver syndrome.</strong> Am. J. Hum. Genet. 91: 391-395, 2012.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/22883147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">22883147</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=22883147[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.2012.07.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="22883147">Hassed et al. (2012)</a> identified heterozygosity for a 505A-G transition in the RBPJ gene, resulting in a lys169-to-glu (K169E) substitution in the highly conserved DNA-binding domain. Functional analysis using an oligonucleotide corresponding to a canonical RBPJ binding site in the promoter of HES1 (<a href="/entry/139605">139605</a>) demonstrated that whereas wildtype RBPJ formed a specific complex with the probe, the K169E mutant did not exhibit any specific binding complex; similarly, in live cells, the K169E mutant showed decreased binding to the HES1 promoter compared to wildtype RBPJ. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=22883147" 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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Amakawa, R., Jing, W., Ozawa, K., Matsunami, N., Hamaguchi, Y., Matsuda, F., Kawaichi, M., Honjo, T.
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<strong>Human Jk recombination signal binding protein gene (IGKJRB): comparison with its mouse homologue.</strong>
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Genomics 17: 306-315, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8406481/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8406481</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8406481" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1993.1326" target="_blank">Full Text</a>]
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Aras, S., Pak, O., Sommer, N., Finley Jr., R., Huttemann, M., Weissmann, N., Grossman, L. I.
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<strong>Oxygen-dependent expression of cytochrome c oxidase subunit 4-2 gene expression is mediated by transcription factors RBPJ, CXXC5, and CHCHD2.</strong>
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Nucleic Acids Res. 41: 2255-2266, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23303788/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23303788</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23303788[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=23303788" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/nar/gks1454" target="_blank">Full Text</a>]
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Christensen, S., Kodoyianni, V., Bosenberg, M., Friedman, L., Kimble, J.
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<strong>Lag-1, a gene required for lin-12 and glp-1 signaling in Caenorhabditis elegans, is homologous to human CBF1 and Drosophila Su(H).</strong>
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Development 122: 1373-1383, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8625826/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8625826</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8625826" 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/10.1242/dev.122.5.1373" target="_blank">Full Text</a>]
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<a id="Engel2010" class="mim-anchor"></a>
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Engel, M. E., Nguyen, H. N., Mariotti, J., Hunt, A., Hiebert, S. W.
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<strong>Myeloid translocation gene 16 (MTG16) interacts with Notch transcription complex components to integrate Notch signaling in hematopoietic cell fate specification.</strong>
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Molec. Cell. Biol. 30: 1852-1863, 2010.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20123979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20123979</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20123979" 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/10.1128/MCB.01342-09" target="_blank">Full Text</a>]
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Bao Lige - updated : 04/08/2020
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Paul J. Converse - updated : 08/14/2017<br>Paul J. Converse - updated : 10/08/2015<br>Paul J. Converse - updated : 2/27/2015<br>Marla J. F. O'Neill - updated : 9/7/2012<br>Patricia A. Hartz - updated : 6/8/2012<br>Patricia A. Hartz - updated : 10/21/2011<br>Matthew B. Gross - updated : 2/3/2011<br>Ada Hamosh - updated : 1/10/2008<br>Patricia A. Hartz - updated : 11/13/2007<br>Ada Hamosh - updated : 6/26/2007<br>Patricia A. Hartz - updated : 3/1/2007<br>Paul J. Converse - updated : 10/20/2005<br>Ada Hamosh - updated : 9/7/2005<br>Victor A. McKusick - updated : 9/19/1997
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Creation Date:
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Victor A. McKusick : 8/25/1993
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mgross : 04/08/2020
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carol : 08/21/2019<br>carol : 07/24/2019<br>mgross : 08/14/2017<br>carol : 08/15/2016<br>mgross : 10/08/2015<br>mgross : 2/27/2015<br>carol : 9/10/2012<br>terry : 9/7/2012<br>mgross : 6/8/2012<br>mgross : 10/21/2011<br>terry : 10/21/2011<br>mgross : 2/3/2011<br>carol : 9/18/2008<br>ckniffin : 2/5/2008<br>alopez : 1/28/2008<br>terry : 1/10/2008<br>mgross : 11/26/2007<br>terry : 11/13/2007<br>alopez : 7/2/2007<br>terry : 6/26/2007<br>mgross : 3/1/2007<br>mgross : 10/20/2005<br>mgross : 10/20/2005<br>alopez : 9/14/2005<br>terry : 9/7/2005<br>mgross : 10/4/2000<br>mgross : 10/4/2000<br>mgross : 10/3/2000<br>mgross : 9/15/2000<br>mgross : 8/28/2000<br>alopez : 10/23/1998<br>mark : 9/23/1997<br>terry : 9/19/1997<br>terry : 5/10/1994<br>carol : 8/25/1993
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<strong>*</strong> 147183
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RECOMBINATION SIGNAL-BINDING PROTEIN FOR IMMUNOGLOBULIN KAPPA J REGION; RBPJ
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RECOMBINATION SIGNAL-BINDING PROTEIN SUPPRESSOR OF HAIRLESS, DROSOPHILA, HOMOLOG OF; RBPSUH<br />
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IMMUNOGLOBULIN KAPPA J REGION RECOMBINATION SIGNAL-BINDING PROTEIN 1; IGKJRB1<br />
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RECOMBINATION SIGNAL-BINDING PROTEIN 1 FOR J-KAPPA; RBPJK; RBPJ<br />
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C PROMOTER-BINDING FACTOR 1; CBF1
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<strong><em>HGNC Approved Gene Symbol: RBPJ</em></strong>
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Cytogenetic location: 4p15.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 4:26,105,449-26,435,131 </span>
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<span class="small">(from NCBI)</span>
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<strong>Gene-Phenotype Relationships</strong>
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Phenotype
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Phenotype <br /> MIM number
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Inheritance
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Phenotype <br /> mapping key
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4p15.2
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Adams-Oliver syndrome 3
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614814
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Autosomal dominant
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3
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<strong>TEXT</strong>
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<strong>Cloning and Expression</strong>
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<p>The vast diversity of specificities in antigen recognition is primarily generated by the somatic combinatorial assembly of multiple germline DNA segments called variable (V), diversity (D), and joining (J) in immunoglobulin and T-cell receptor genes. Each segment of V, D, and J is flanked by a recombination-recognition sequence (RS) consisting of a palindromic heptanucleotide sequence and an AT-rich nonameric sequence separated by either 12 or 23 bp of spacer sequence. The heptamer and nonamer sequences are highly conserved during evolution, whereas the spacer sequences are not. Several lines of evidence indicate that the V(D)J recombination processes are directed by the recognition of the RS. The genes involved in V(D)J recombination include RAG1 (179615) and RAG2 (179616) in the mouse. The Igkjrb protein, identified in nuclear extracts from a mouse pre-B-cell line as a binding protein specific to Jk-type RS, may also be involved. The IGKJRB gene is well conserved among many species such as human, mouse, Xenopus, and Drosophila. Using cDNA fragments of the mouse Igkjrb, Amakawa et al. (1993) isolated its human counterpart, IGKJRB. Three types of cDNA with different 5-prime sequences were isolated, suggesting the presence of 3 protein isoforms. Two of these may be specific to human cells because the mouse counterparts were not detected. The amino acid sequences of the human and mouse genes are 98% identical in exons 2 through 11, whereas the homology of the human and mouse exon 1 sequences were 75%. A possible wider role for the RBP-Jk protein is suggested by the fact that in Drosophila the homologous gene is involved in the development of the peripheral nervous system. </p>
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<strong>Mapping</strong>
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<p>Gross (2011) mapped the RBPJ gene to chromosome 4p15.2 based on an alignment of the RBPJ sequence (GenBank AK302230) with the genomic sequence (GRCh37).</p><p><strong><em>Pseudogenes</em></strong></p><p>
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By fluorescence in situ hybridization (FISH), Amakawa et al. (1993) demonstrated that the functional IGKJRB gene is localized at 3q25 and the 2 pseudogenes at 9p13 and 9q13. (The 2 pseudogenes, located on different arms of chromosome 9, showed 91% homology with the cDNA for 1 of the 3 IGKJRB proteins. The processed pseudogenes differ from each other. Amakawa et al. (1993) suggested the following evolutionary mechanism for their generation: the primordial pseudogene evolved from mRNA which was incorporated into a region at chromosome 9p13. The next processes could be recent events, including duplication of the primordial pseudogene, chromosomal inversion involving 9p13 and 9q13, and subsequent divergence by point mutations, nucleotide insertions, and deletions. Examination of peripheral lymphocytes by Southern blot analysis demonstrated that the genomes of 8 out of 22 individuals lacked pseudogene 2 located at 9q13.) By FISH, Tang et al. (1997) failed to find a locus for the functional gene on 3q25 and found instead that the functional gene was localized to 9p13-p12 and 9q13, 2 sites where pseudogenes had previously been assigned by Amakawa et al. (1993). </p>
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<strong>Gene Function</strong>
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<p>Henkel et al. (1994) determined that CBF1 is identical to IGKJRB1. Christensen et al. (1996) found that the product of the worm Lag1 gene, like CBF1 and the Drosophila homolog 'suppressor of hairless,' binds specifically to the consensus DNA sequence RTGGGAA (see also Tun et al. (1994)). This family of DNA-binding factors that mediate transcriptional activation or repression is designated CSL. </p><p>RBPJ functions immediately downstream of Notch signaling (see 190198). Han et al. (2002) used a conditional gene knockout strategy to inactivate the DNA-binding domain of Rbpj in mouse bone marrow and found that Rbpj was required for T-cell development. In the absence of Rbpj, there was an increase in thymic B-cell development. Han et al. (2002) proposed that RBPJ, by mediating Notch signaling, controls T- versus B-cell fate decisions in lymphoid progenitors. </p><p>Thymocytes can be divided into 4 subsets based on CD4 (186940) and CD8 (see 186910) expression, with double-negative (DN) cells being the least mature. The DN population can be further subdivided into 4 subsets, DN1 through DN4. Tanigaki et al. (2004) used a conditional knockout strategy to inactivate Rbpj at the DN2 and DN4 stages in mice. Inactivation at DN2 resulted in severe developmental arrest of alpha-beta T cells at the DN3 stage and enhanced generation of gamma-delta T cells. Inactivation at DN4 caused no abnormalities in CD4/CD8 lineage commitment, but it resulted in enhanced Th1 responses and reduced T-cell proliferation. Tanigaki et al. (2004) concluded that Notch/RBPJ signaling regulates not only the T-cell developmental process, but also the direction and magnitude of immune responses via regulation of peripheral T cells. </p><p>Van Es et al. (2005) showed a rapid, massive conversion of proliferative crypt cells into postmitotic goblet cells after conditional removal of the common Notch pathway transcription factor CSL/RBP-J. The authors obtained a similar phenotype by blocking the Notch cascade with a gamma-secretase inhibitor. The inhibitor also induced goblet cell differentiation in adenomas in mice carrying a mutation of the Apc tumor suppressor gene (611731). Thus, maintenance of undifferentiated, proliferative cells in crypts and adenomas requires the concerted activation of the Notch and Wnt cascades. </p><p>Siekmann and Lawson (2007) demonstrated that Notch signaling is necessary to restrict angiogenic cell behavior to tip cells in developing segmental arteries in the zebrafish embryo. In the absence of the Notch signaling component Rbpsuh, Siekmann and Lawson (2007) observed excessive sprouting of segmental arteries, whereas Notch activation suppressed angiogenesis. Through mosaic analysis they found that cells lacking Rbpsuh preferentially localized to the terminal position in developing sprouts. In contrast, cells in which Notch signaling had been activated were excluded from the tip cell position. In vivo time-lapse analysis revealed that endothelial tip cells undergo a stereotypical pattern of proliferation and migration during sprouting. In the absence of Notch, nearly all sprouting endothelial cells exhibited tip cell behavior, leading to excessive numbers of cells within segmental arteries. Furthermore, Siekmann and Lawson (2007) found that Flt4 (136352) is expressed in segmental artery tip cells and became ectopically expressed throughout the sprout in the absence of Notch. Loss of Flt4 could partially restore normal endothelial cell number in Rbpsuh-deficient segmental arteries. Finally, loss of the Notch ligand Dll4 (605185) also led to an increased number of endothelial cells within segmental arteries. Siekmann and Lawson (2007) concluded that their studies taken together indicated that proper specification of cell identity, position, and behavior in a developing blood vessel sprout is required for normal angiogenesis, and implicated the Notch signaling pathway in this process. </p><p>PTF1A (607194) is a basic helix-loop-helix transcription factor required for pancreatic development. Masui et al. (2007) found that Ptf1a interacted with Rbpj within a stable trimeric DNA-binding complex (PTF1) during early pancreatic development in mouse. As acinar cell development began, Rbpj was swapped for Rbpjl, the constitutively active, pancreas-restricted Rbpj paralog, and Rbpjl was a direct target of the PTF1 complex. At the onset of acinar cell development, when the Rbpjl gene was first induced, a PTF1 complex containing Rbpj bound to the Rbpjl promoter. As development proceeded, Rbpjl gradually replaced Rbpj in the PTF1 complex bound to the Rbpjl promoter and appeared on the PTF1 complex-binding sites on the promoters of other acinar-specific genes, including those for secretory digestive enzymes. Introduction of a Ptf1a mutant unable to bind Rbpj truncated pancreatic development at an immature stage, without the formation of acini or islets. The action of Rbpj within the PTF1 complex was independent of its role in Notch signaling. </p><p>Mizutani et al. (2007) showed that both neural stem cells and intermediate neural progenitors respond to Notch receptor activation, but that neural stem cells signal through the canonic Notch effector CBF1, whereas intermediate neural progenitors have attenuated CBF1 signaling. Furthermore, whereas knockdown of CBF1 promotes the conversion of neural stem cells to intermediate neural progenitors, activation of CBF1 is insufficient to convert intermediate neural progenitors back to neural stem cells. Using both transgenic and transient in vivo reporter assays, Mizutani et al. (2007) showed that neural stem cells and intermediate neural progenitors coexist in the telencephalic ventricular zone of mice and that they can be prospectively separated on the basis of CBF1 activity. Furthermore, using in vivo transplantation, they showed that whereas neural stem cells generate neurons, astrocytes, and oligodendrocytes at similar frequencies, intermediate neural progenitors are predominantly neurogenic. Mizutani et al. (2007) concluded that their study, together with previous work on hematopoietic stem cells, suggested the use or blockade of the CBF1 cascade downstream of Notch as a general feature distinguishing stem cells from more limited progenitors in a variety of tissues. </p><p>Notch signaling regulates gene expression for specification of cell fate in diverse tissues during development and adult tissue renewal. In response to ligand binding, the intracellular domain (ICD) of Notch is proteolytically released by the gamma-secretase complex (see 104311) and translocates to the nucleus, where it binds CSL and triggers its conversion from a repressor to an activator of Notch target gene expression. Engel et al. (2010) found that Mtg16 (CBFA2T3; 603870) -/- mouse hematopoietic progenitor cells showed elevated expression of Notch targets, in addition to impaired differentiation, in response to Notch signaling. The defect was reversed by restoration of Mtg16 expression. Using mouse and human cells, Engel et al. (2010) showed that all MTG family proteins bound CSL and that MTG16 bound the ICDs of all Notch receptor proteins. Binding of MTG16 to Notch ICD disrupted MTG16-CSL and MTG16-NCOR (see 600849) interactions and permitted Notch signaling. Mutation and coprecipitation analysis revealed that the N-terminal PST region of MTG16 interacted directly with Notch ICD and that binding was independent of the MTG16 NTR domains required for DNA, CSL, and histone deacetylase binding. The PST region of Mtg16 was also essential for Mtg16-dependent lineage specification in mouse hematopoietic progenitor cells. Engel et al. (2010) concluded that MTG16 is an integral component of Notch signaling that contributes to basal repression of canonical Notch target genes. </p><p>Tong et al. (2011) found that expression of human BOAT1 (ATXN1L; 614301) in Drosophila wing disrupted Notch signaling, leading to wing defects. Coimmunoprecipitation analysis of HEK293 cells revealed that both BOAT1 and ATXN1 (601556) precipitated CBF1, which functions as a transcriptional activator when associated with NICD. Protein pull-down and yeast 2-hybrid analyses confirmed the interactions and showed that BOAT1 and ATXN1 competed for CBF1 binding. Coimmunoprecipitation experiments showed that NICD disrupted CBF1-BOAT/ATXN1 interactions. Reporter gene assays revealed that both BOAT1 and ATXN1 inhibited CBF1 activity at the promoter for HEY1 (602953), a Notch target gene. Chromatin immunoprecipitation assays showed that Boat1 and Atxn1, in addition to Smrt (NCOR2; 600848), occupied the Hey1 promoter in differentiating mouse C2C12 myoblasts. Atxn1 bound the Hey1 promoter transiently, whereas Boat1 and Smrt remained bound to the Hey1 promoter under the same conditions. Tong et al. (2011) concluded that BOAT1 and ATXN1 are chromatin-binding factors that repress Notch signaling in the absence of NCID by acting as CBF1 corepressors. </p><p>The COX4I2 gene (607976) contains a conserved oxygen response element (ORE) that is maximally active at a concentration of 4% oxygen. Using a yeast 1-hybrid screen to identify transcription factors binding the 13-bp ORE of human COX4I2, followed by DNA binding assays, Aras et al. (2013) detected binding by CHCHD2 (616244), CXXC5 (612752), and RBPJ, but not by HIF1A (603348). Luciferase analysis showed that RBPJ and CHCHD2 functioned as activators of the ORE, whereas CXXC5 repressed it. Coimmunoprecipitation analysis showed that RBPJ interacted with both CHCHD2 and CXXC5. Treatment of rat primary lung cells with small interfering RNA to Chchd2 or Rbpj resulted in a significant decrease in Cox4i2 expression. </p><p>By immunohistochemical analysis, Kulic et al. (2015) observed frequent depletion of RBPJ in human breast tumors, confirming microarray data. Implantation of human tumor cells after RBPJ depletion into immunodeficient mice resulted in enhanced tumor growth. Knockdown of RBPJ caused significant upregulation of NOTCH target genes, such as HEY1, HES1 (139605), SNAIL1 (SNAI1; 604238), and GUCY1A3 (139396), as well as MMP1 (120353), suggesting that RBPJ deficiency results in a NOTCH-like gene signature with RBPJ activating a subset of NOTCH target genes. RBPJ depletion caused epigenetic changes corresponding to promoter activity, as shown by EMSA, chromatin immunoprecipitation, and real-time quantitative PCR. Functional studies showed that RBPJ deficiency increased tumor cell survival, possibly, by enabling MYC (190080) and NFKB (see 164011) activation. Kulic et al. (2015) concluded that loss of RBPJ derepresses target gene promoters, allowing NOTCH-independent activation by alternate transcription factors that promote tumorigenesis. </p><p>By yeast 2-hybrid, coimmunoprecipitation, and pull-down analyses, Xu et al. (2017) found that human L3MBTL3 (618844) interacted directly with RBPJ. Mutation analysis showed that the interaction required the N-terminal region of L3MBTL3 and the beta-trefoil domain (BTD) of RBPJ. The Notch ICD also interacted with the BTD of RBPJ, allowing competition between L3MBTL3 and the Notch ICD for RBPJ binding. Thermodynamic analysis showed that the Notch ICD could outcompete L3MBTL3 for binding to RBPJ. However, in the absence of Notch signaling, interaction with L3MBTL3 allowed RBPJ to recruit L3MBTL3 on chromatin to repress expression of Notch target genes. L3MBTL3 also interacted with KDM1A (609132), a histone demethylase, and linked KDM1A to Notch-responsive elements. KDM1A interacted with RBPJ and promoted demethylation of dimethylated lys4 of histone H3 (see 602810), resulting in repression of Notch target gene expression. Genetic analysis in Drosophila and C. elegans demonstrated that the RBPJ-L3MBTL3 interaction was evolutionarily conserved in metazoans. </p>
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<strong>Molecular Genetics</strong>
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<p>Using a variant-filtering strategy to perform exome resequencing in 2 unrelated families with Adams-Oliver syndrome (AOS3; 614814), Hassed et al. (2012) identified 2 different heterozygous missense mutations in the RBPJ gene (147183.0001 and 147183.0002) that segregated with disease in each family. Functional analysis confirmed impaired DNA binding of mutant RBPJ. </p>
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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>Amakawa et al. (1993) demonstrated that the functional IGKJRB gene contains 13 exons and spans at least 67 kb. The human genome contains 1 functional IGKJRB gene and 2 types of processed pseudogenes. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>RBPSUH and DLL4 (605185) are both involved in Notch signaling. Krebs et al. (2004) showed that Dll4 haploinsufficiency or Rbpsuh knockout in mice resulted in severe vascular defects leading to embryonic lethality. Rbpsuh -/- embryos did not express several arterial-specific endothelial cell markers. Conditional inactivation of Rbpsuh function demonstrated that Notch activation was essential in the endothelial cell lineage. Dll4 and Rbpsuh mutant embryos also exhibited arteriovenous malformations, likely due to an inability to establish and maintain distinct arterial-venous vascular beds. </p><p>Wang et al. (2016) found that after fractures, mice with a conditional deletion of Rbpjk in skeletal progenitor cells had persistent callus formation along the periosteum without bridging between the cortices. Histologic analysis and assessment of mechanical competence indicated both delayed fracture repair and complete nonunion of fractured bone. Immunofluorescence microscopy demonstrated depletion of bone marrow stromal/stem cells (BMSCs) with altered differentiation potential rather than altered vascularization or osteoclast numbers in Rbpjk mutant mice. Wang et al. (2016) concluded that NOTCH signaling and BMSCs are required for fracture repair, irrespective of stability and vascularity. </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>2 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 ADAMS-OLIVER SYNDROME 3</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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RBPJ, GLU63GLY
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<br />
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SNP: rs387907270,
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ClinVar: RCV000030707
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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 father and daughter with Adams-Oliver syndrome (AOS3; 614814), Hassed et al. (2012) identified heterozygosity for a 188A-G transition in the RBPJ gene, resulting in a glu63-to-gly (E63G) substitution in the highly conserved DNA-binding domain. Functional analysis using an oligonucleotide corresponding to a canonical RBPJ binding site in the promoter of HES1 (139605) demonstrated that whereas wildtype RBPJ formed a specific complex with the probe, the E63G mutant did not exhibit any specific binding complex; similarly, in live cells, the E63G mutant showed decreased binding to the HES1 promoter compared to wildtype RBPJ. </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 ADAMS-OLIVER SYNDROME 3</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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RBPJ, LYS169GLU
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<br />
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SNP: rs387907271,
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ClinVar: RCV000030708
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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 affected individuals from a 3-generation family with Adams-Oliver syndrome (AOS3; 614814), Hassed et al. (2012) identified heterozygosity for a 505A-G transition in the RBPJ gene, resulting in a lys169-to-glu (K169E) substitution in the highly conserved DNA-binding domain. Functional analysis using an oligonucleotide corresponding to a canonical RBPJ binding site in the promoter of HES1 (139605) demonstrated that whereas wildtype RBPJ formed a specific complex with the probe, the K169E mutant did not exhibit any specific binding complex; similarly, in live cells, the K169E mutant showed decreased binding to the HES1 promoter compared to wildtype RBPJ. </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">
|
|
<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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Amakawa, R., Jing, W., Ozawa, K., Matsunami, N., Hamaguchi, Y., Matsuda, F., Kawaichi, M., Honjo, T.
|
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<strong>Human Jk recombination signal binding protein gene (IGKJRB): comparison with its mouse homologue.</strong>
|
|
Genomics 17: 306-315, 1993.
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[PubMed: 8406481]
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[Full Text: https://doi.org/10.1006/geno.1993.1326]
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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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Aras, S., Pak, O., Sommer, N., Finley Jr., R., Huttemann, M., Weissmann, N., Grossman, L. I.
|
|
<strong>Oxygen-dependent expression of cytochrome c oxidase subunit 4-2 gene expression is mediated by transcription factors RBPJ, CXXC5, and CHCHD2.</strong>
|
|
Nucleic Acids Res. 41: 2255-2266, 2013.
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[PubMed: 23303788]
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[Full Text: https://doi.org/10.1093/nar/gks1454]
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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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Christensen, S., Kodoyianni, V., Bosenberg, M., Friedman, L., Kimble, J.
|
|
<strong>Lag-1, a gene required for lin-12 and glp-1 signaling in Caenorhabditis elegans, is homologous to human CBF1 and Drosophila Su(H).</strong>
|
|
Development 122: 1373-1383, 1996.
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[PubMed: 8625826]
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[Full Text: https://doi.org/10.1242/dev.122.5.1373]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Engel, M. E., Nguyen, H. N., Mariotti, J., Hunt, A., Hiebert, S. W.
|
|
<strong>Myeloid translocation gene 16 (MTG16) interacts with Notch transcription complex components to integrate Notch signaling in hematopoietic cell fate specification.</strong>
|
|
Molec. Cell. Biol. 30: 1852-1863, 2010.
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[PubMed: 20123979]
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[Full Text: https://doi.org/10.1128/MCB.01342-09]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Gross, M. B.
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<strong>Personal Communication.</strong>
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|
Baltimore, Md. 2/3/2011.
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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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Han, H., Tanigaki, K., Yamamoto, N., Kuroda, K., Yoshimoto, M., Nakahata, T., Ikuta, K., Honjo, T.
|
|
<strong>Inducible gene knockout of transcription factor recombination signal binding protein-J reveals its essential role in T versus B lineage decision.</strong>
|
|
Int. Immun. 14: 637-645, 2002.
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[PubMed: 12039915]
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[Full Text: https://doi.org/10.1093/intimm/dxf030]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Hassed, S. J., Wiley, G. B., Wang, S., Lee, J.-Y., Li, S., Xu, W., Zhao, Z. J., Mulvihill, J. J., Robertson, J., Warner, J., Gaffney, P. M.
|
|
<strong>RBPJ mutations identified in two families affected by Adams-Oliver syndrome.</strong>
|
|
Am. J. Hum. Genet. 91: 391-395, 2012.
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|
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|
|
[PubMed: 22883147]
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[Full Text: https://doi.org/10.1016/j.ajhg.2012.07.005]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Henkel, T., Ling, P. D., Hayward, S. D., Peterson, M. G.
|
|
<strong>Mediation of Epstein-Barr virus EBNA2 transactivation by recombination signal-binding protein J kappa.</strong>
|
|
Science 265: 92-95, 1994.
|
|
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|
|
[PubMed: 8016657]
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[Full Text: https://doi.org/10.1126/science.8016657]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Krebs, L. T., Shutter, J. R., Tanigaki, K., Honjo, T., Stark, K. L., Gridley, T.
|
|
<strong>Haploinsufficient lethality and formation of arteriovenous malformations in Notch pathway mutants.</strong>
|
|
Genes Dev. 18: 2469-2473, 2004.
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|
|
[PubMed: 15466160]
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[Full Text: https://doi.org/10.1101/gad.1239204]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Kulic, I., Robertson, G., Chang, L., Baker, J. H. E., Lockwood, W. W., Mok, W., Fuller, M., Fournier, M., Wong, N., Chou, V., Robinson, M. D., Chun, H.-J., and 9 others.
|
|
<strong>Loss of the Notch effector RBPJ promotes tumorigenesis.</strong>
|
|
J. Exp. Med. 212: 37-52, 2015.
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|
|
[PubMed: 25512468]
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[Full Text: https://doi.org/10.1084/jem.20121192]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Masui, T., Long, Q., Beres, T. M., Magnuson, M. A., MacDonald, R. J.
|
|
<strong>Early pancreatic development requires the vertebrate suppressor of hairless (RBPJ) in the PTF1 bHLH complex.</strong>
|
|
Genes Dev. 21: 2629-2643, 2007.
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|
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[PubMed: 17938243]
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[Full Text: https://doi.org/10.1101/gad.1575207]
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</p>
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</li>
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<li>
|
|
<p class="mim-text-font">
|
|
Mizutani, K., Yoon, K., Dang, L., Tokunaga, A., Gaiano, N.
|
|
<strong>Differential Notch signalling distinguishes neural stem cells from intermediate progenitors.</strong>
|
|
Nature 449: 351-355, 2007.
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[PubMed: 17721509]
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[Full Text: https://doi.org/10.1038/nature06090]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Siekmann, A. F., Lawson, N. D.
|
|
<strong>Notch signalling limits angiogenic cell behaviour in developing zebrafish arteries.</strong>
|
|
Nature 445: 781-784, 2007.
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[PubMed: 17259972]
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[Full Text: https://doi.org/10.1038/nature05577]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Tang, X., Saito-Ohara, F., Song, J., Koga, C., Ugai, H., Murakami, H., Ikeuchi, T., Yokoyama, K. K.
|
|
<strong>Assignment of the human gene for KBF2/RBP-Jk to chromosome 9p12-13 and 9q13 by fluorescence in situ hybridization.</strong>
|
|
Jpn. J. Hum. Genet. 42: 337-341, 1997.
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[PubMed: 9290259]
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[Full Text: https://doi.org/10.1007/BF02766956]
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</p>
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</li>
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<li>
|
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<p class="mim-text-font">
|
|
Tanigaki, K., Tsuji, M., Yamamoto, N., Han, H., Tsukada, J., Inoue, H., Kubo, M., Honjo, T.
|
|
<strong>Regulation of alpha-beta/gamma-delta T cell lineage commitment and peripheral T cell responses by Notch/RBP-J signaling.</strong>
|
|
Immunity 20: 611-622, 2004.
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[PubMed: 15142529]
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[Full Text: https://doi.org/10.1016/s1074-7613(04)00109-8]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Tong, X., Gui, H., Jin, F., Heck, B. W., Lin, P., Ma, J., Fondell, J. D., Tsai, C.-C.
|
|
<strong>Ataxin-1 and brother of ataxin-1 are components of the Notch signalling pathway.</strong>
|
|
EMBO Rep. 12: 428-435, 2011.
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|
|
[PubMed: 21475249]
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[Full Text: https://doi.org/10.1038/embor.2011.49]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
|
|
Tun, T., Hamaguchi, Y., Matsunami, N., Furukawa, T., Honjo, T., Kawaichi, M.
|
|
<strong>Recognition sequences of a highly conserved DNA binding protein RBP-J kappa.</strong>
|
|
Nucleic Acids Res. 22: 965-971, 1994.
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|
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[PubMed: 8152928]
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[Full Text: https://doi.org/10.1093/nar/22.6.965]
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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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van Es, J. H., van Gijn, M. E., Riccio, O., van den Born, M., Vooijs, M., Begthel, H., Cozijnsen, M., Robine, S., Winton, D. J., Radtke, F., Clevers, H.
|
|
<strong>Notch/gamma-secretase inhibition turns proliferative cells in intestinal crypts and adenomas into goblet cells. (Letter)</strong>
|
|
Nature 435: 959-963, 2005.
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[PubMed: 15959515]
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[Full Text: https://doi.org/10.1038/nature03659]
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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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Wang, C., Inzana, J. A., Mirando, A. J., Ren, Y., Liu, Z., Shen, J., O'Keefe, R. J., Awad, H. A., Hilton, M. J.
|
|
<strong>NOTCH signaling in skeletal progenitors is critical for fracture repair.</strong>
|
|
J. Clin. Invest. 126: 1471-1481, 2016.
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[PubMed: 26950423]
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[Full Text: https://doi.org/10.1172/JCI80672]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Xu, T., Park, S.-S., Giaimo, B. D., Hall, D., Ferrante, F., Ho, D. M., Hori, K., Anhezini, L., Ertl, I., Bartkuhn, M., Zhang, H., Milon, E., and 15 others.
|
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<strong>RBPJ/CBF1 interacts with L3MBTL3/MBT1 to promote repression of Notch signaling via histone demethylase KDM1A/LSD1.</strong>
|
|
EMBO J. 36: 3232-3249, 2017.
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[PubMed: 29030483]
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[Full Text: https://doi.org/10.15252/embj.201796525]
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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:
|
|
</span>
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</div>
|
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
|
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Bao Lige - updated : 04/08/2020<br>Paul J. Converse - updated : 08/14/2017<br>Paul J. Converse - updated : 10/08/2015<br>Paul J. Converse - updated : 2/27/2015<br>Marla J. F. O'Neill - updated : 9/7/2012<br>Patricia A. Hartz - updated : 6/8/2012<br>Patricia A. Hartz - updated : 10/21/2011<br>Matthew B. Gross - updated : 2/3/2011<br>Ada Hamosh - updated : 1/10/2008<br>Patricia A. Hartz - updated : 11/13/2007<br>Ada Hamosh - updated : 6/26/2007<br>Patricia A. Hartz - updated : 3/1/2007<br>Paul J. Converse - updated : 10/20/2005<br>Ada Hamosh - updated : 9/7/2005<br>Victor A. McKusick - updated : 9/19/1997
|
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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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<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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Creation Date:
|
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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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Victor A. McKusick : 8/25/1993
|
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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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</div>
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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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Edit History:
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</span>
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</div>
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mgross : 04/08/2020<br>carol : 08/21/2019<br>carol : 07/24/2019<br>mgross : 08/14/2017<br>carol : 08/15/2016<br>mgross : 10/08/2015<br>mgross : 2/27/2015<br>carol : 9/10/2012<br>terry : 9/7/2012<br>mgross : 6/8/2012<br>mgross : 10/21/2011<br>terry : 10/21/2011<br>mgross : 2/3/2011<br>carol : 9/18/2008<br>ckniffin : 2/5/2008<br>alopez : 1/28/2008<br>terry : 1/10/2008<br>mgross : 11/26/2007<br>terry : 11/13/2007<br>alopez : 7/2/2007<br>terry : 6/26/2007<br>mgross : 3/1/2007<br>mgross : 10/20/2005<br>mgross : 10/20/2005<br>alopez : 9/14/2005<br>terry : 9/7/2005<br>mgross : 10/4/2000<br>mgross : 10/4/2000<br>mgross : 10/3/2000<br>mgross : 9/15/2000<br>mgross : 8/28/2000<br>alopez : 10/23/1998<br>mark : 9/23/1997<br>terry : 9/19/1997<br>terry : 5/10/1994<br>carol : 8/25/1993
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