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Entry
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- *116897 - CCAAT/ENHANCER-BINDING PROTEIN, ALPHA; CEBPA
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- OMIM
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<p>
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<span class="h4">*116897</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<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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<a href="#cloning">Cloning and Expression</a>
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#evolution">Evolution</a>
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<a href="#nomenclature">Nomenclature</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/116897">Table View</a>
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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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 id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</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=ENSG00000245848;t=ENST00000498907" 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=1050" 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=116897" 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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<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=ENSG00000245848;t=ENST00000498907" 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_001285829,NM_001287424,NM_001287435,NM_004364" 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_004364" 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=116897" 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 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=00296&isoform_id=00296_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/CEBPA" 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/807210,860970,1041733,1877205,28872794,39645347,116283740,154482087,166898082,551894998,566559992,566559994,2428735085" 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/P49715" 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 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=1050" 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=ENSG00000245848;t=ENST00000498907" 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=CEBPA" 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=CEBPA" 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+1050" 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/CEBPA" 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:1050" 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/1050" 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=chr19&hgg_gene=ENST00000498907.3&hgg_start=33299934&hgg_end=33302534&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 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://search.clinicalgenome.org/kb/gene-dosage/HGNC:1833" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://search.clinicalgenome.org/kb/genes/HGNC:1833" class="mim-tip-hint" title="A ClinGen curated resource of ratings for the strength of evidence supporting or refuting the clinical validity of the claim(s) that variation in a particular gene causes disease." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Validity', 'domain': 'search.clinicalgenome.org'})">ClinGen Validity</a></div>
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<div><a href="https://medlineplus.gov/genetics/gene/cebpa" 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=116897[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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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=116897[MIM]" class="mim-tip-hint" title="ClinVar aggregates information about sequence variation and its relationship to human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">ClinVar</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000245848" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.gwascentral.org/search?q=CEBPA" 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=CEBPA" 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=CEBPA&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/PA26376" 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:1833" 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/FBgn0005638.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:99480" 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/CEBPA#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:99480" 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/1050/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=1050" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-020111-2" 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:1050" 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=CEBPA&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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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 1162928000, 91861009<br />
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<strong>ICD10CM:</strong> C92.0, C92.00<br />
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<strong>ICD9CM:</strong> 205.0<br />
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">ICD+</a>
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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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116897
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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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CCAAT/ENHANCER-BINDING PROTEIN, ALPHA; CEBPA
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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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
C/EBP-ALPHA<br />
|
|
CEBP
|
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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>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=CEBPA" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">CEBPA</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>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/19/552?start=-3&limit=10&highlight=552">19q13.11</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr19:33299934-33302534&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'})">19:33,299,934-33,302,534</a> </span>
|
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</em>
|
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</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
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|
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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;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
|
<th>
|
|
Phenotype
|
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</th>
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<th>
|
|
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>
|
|
Phenotype <br /> mapping key
|
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</th>
|
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</tr>
|
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</thead>
|
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<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/19/552?start=-3&limit=10&highlight=552">
|
|
19q13.11
|
|
</a>
|
|
</span>
|
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</td>
|
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|
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<td>
|
|
<span class="mim-font">
|
|
?Leukemia, acute myeloid
|
|
|
|
<span class="mim-tip-hint" title="A question mark (?) indicates that the relationship between the phenotype and gene is provisional">
|
|
<span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span>
|
|
</span>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/601626"> 601626 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Somatic mutation">SMu</abbr>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<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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|
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|
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<tr>
|
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<td>
|
|
<span class="mim-font">
|
|
Leukemia, acute myeloid, somatic
|
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|
|
</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/601626"> 601626 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
</tr>
|
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</tbody>
|
|
</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">
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<p>The CCAAT/enhancer-binding protein bears sequence homology and functional similarities to liver activator protein (LAP, or CEBPB; <a href="/entry/189965">189965</a>) (<a href="#5" class="mim-tip-reference" title="Descombes, P., Chojkier, M., Lichtsteiner, S., Falvey, E., Schibler, U. <strong>LAP, a novel member of the C/EBP gene family, encodes a liver-enriched transcriptional activator protein.</strong> Genes Dev. 4: 1541-1551, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2253878/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2253878</a>] [<a href="https://doi.org/10.1101/gad.4.9.1541" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2253878">Descombes et al., 1990</a>). See <a href="#11" class="mim-tip-reference" title="Landschulz, W. H., Johnson, P. F., McKnight, S. L. <strong>The DNA binding domain of the rat liver nuclear protein C/EBP is bipartite.</strong> Science 243: 1681-1688, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2494700/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2494700</a>] [<a href="https://doi.org/10.1126/science.2494700" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2494700">Landschulz et al. (1989)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2494700+2253878" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>Using rat Cebp-alpha to screen a human liver cDNA library, followed by screening a human placenta genomic library, <a href="#21" class="mim-tip-reference" title="Swart, G. W. M., van Groningen, J. J. M., van Ruissen, F., Bergers, M., Schalkwijk, J. <strong>Transcription factor C/EBP-alpha: novel sites of expression and cloning of the human gene.</strong> Biol. Chem. 378: 373-379, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9191024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9191024</a>] [<a href="https://doi.org/10.1515/bchm.1997.378.5.373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9191024">Swart et al. (1997)</a> cloned full-length CEBP-alpha. The deduced 357-amino acid protein has an N-terminal transactivation domain and a C-terminal DNA-binding and dimerization domain. Northern blot analysis detected high expression of a 2.7-kb CEBP-alpha transcript in human placenta, liver, and spleen. Lower expression was detected in colon, smooth muscle, lung, and kidney medulla, and no expression was detected in kidney cortex. CEBP-alpha was also expressed in normal and psoriatic human skin, in cultured human keratinocytes, and in rat aorta and liver. Immunohistochemical analysis detected CEBP-alpha in nuclei of epidermal keratinocytes from normal human skin and lesional psoriatic skin. Intense staining was detected in suprabasal cells, hair follicle keratinocytes, and glandular sebocytes, but not in cells of the inflammatory infiltrate or capillaries. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9191024" 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="#21" class="mim-tip-reference" title="Swart, G. W. M., van Groningen, J. J. M., van Ruissen, F., Bergers, M., Schalkwijk, J. <strong>Transcription factor C/EBP-alpha: novel sites of expression and cloning of the human gene.</strong> Biol. Chem. 378: 373-379, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9191024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9191024</a>] [<a href="https://doi.org/10.1515/bchm.1997.378.5.373" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9191024">Swart et al. (1997)</a> determined that the CEBPA gene is intronless. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9191024" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By means of somatic cell hybrids segregating either human or rat chromosomes, <a href="#22" class="mim-tip-reference" title="Szpirer, C., Riviere, M., Cortese, R., Nakamura, T., Islam, M. Q., Levan, G., Szpirer, J. <strong>Chromosomal localization in man and rat of the genes encoding the liver-enriched transcription factors C/EBP, DBP, and HNF1/LFB-1 (CEBP, DBP, and transcription factor 1, TCF1, respectively) and of the hepatocyte growth factor/scatter factor gene (HGF).</strong> Genomics 13: 293-300, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1535333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1535333</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90245-n" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1535333">Szpirer et al. (1992)</a> mapped the CEBP gene to human chromosome 19 and rat chromosome 1. These results provided further evidence for conservation of synteny on these chromosomes (and on mouse chromosome 7). Using human/hamster somatic cell hybrids containing restricted fragments of human chromosome 19, <a href="#10" class="mim-tip-reference" title="Hendricks-Taylor, L. R., Bachinski, L. L., Siciliano, M. J., Fertitta, A., Trask, B., de Jong, P. J., Ledbetter, D. H., Darlington, G. J. <strong>The CCAAT/enhancer binding protein (C/EBP-alpha) gene (CEBPA) maps to human chromosome 19q13.1 and the related nuclear factor NF-IL6 (C/EBP-beta) gene (CEBPB) maps to human chromosome 20q13.1.</strong> Genomics 14: 12-17, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1427819/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1427819</a>] [<a href="https://doi.org/10.1016/s0888-7543(05)80276-9" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1427819">Hendricks-Taylor et al. (1992)</a> mapped the CEBPA gene to chromosome 19q13.1, between the GPI (<a href="/entry/172400">172400</a>) and TGFB1 (<a href="/entry/190180">190180</a>) genes. This position was confirmed by fluorescence in situ hybridization. <a href="#3" class="mim-tip-reference" title="Birkenmeier, E. H., Gwynn, B., Howard, S., Jerry, J., Gordon, J. I., Landschulz, W. H., McKnight, S. L. <strong>Tissue-specific expression, developmental regulation, and genetic mapping of the gene encoding CCAAT/enhancer binding protein.</strong> Genes Dev. 3: 1146-1156, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2792758/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2792758</a>] [<a href="https://doi.org/10.1101/gad.3.8.1146" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2792758">Birkenmeier et al. (1989)</a> mapped the Cebpa gene to mouse chromosome 7. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1427819+1535333+2792758" 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="#13" class="mim-tip-reference" title="Miller, S. G., De Vos, P., Guerre-Millo, M., Wong, K., Hermann, T., Staels, B., Briggs, M. R., Auwerx, J. <strong>The adipocyte specific transcription factor C/EBP-alpha modulates human ob gene expression.</strong> Proc. Nat. Acad. Sci. 93: 5507-5511, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8643605/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8643605</a>] [<a href="https://doi.org/10.1073/pnas.93.11.5507" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8643605">Miller et al. (1996)</a> characterized the promoter of the human gene encoding leptin (<a href="/entry/164160">164160</a>), a signaling factor expressed in adipose tissue with an important role in body weight homeostasis. They found that CEBPA modulates leptin expression and suggested a function for CEBPA in treatment of human obesity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8643605" 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="#23" class="mim-tip-reference" title="Wang, H., Iakova, P., Wilde, M., Welm, A., Goode, T., Roesler, W. J., Timchenko, N. A. <strong>C/EBP-alpha arrests cell proliferation through direct inhibition of Cdk2 and Cdk4.</strong> Molec. Cell 8: 817-828, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11684017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11684017</a>] [<a href="https://doi.org/10.1016/s1097-2765(01)00366-5" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11684017">Wang et al. (2001)</a> found that CEBPA directly interacts with CDK2 (<a href="/entry/116953">116953</a>) and CDK4 (<a href="/entry/123829">123829</a>) and arrests cell proliferation by inhibiting these kinases. A region between amino acids 175 and 187 of CEBPA was determined to be responsible for direct inhibition of cyclin-dependent kinases and caused growth arrest in cultured cells. CEBPA inhibited CDK2 activity by blocking the association of CDK2 with cyclins. The activities of Cdk4 and Cdk2 were increased in mouse Cebpa knockout livers, leading to increased proliferation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11684017" 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 myeloid transcription factor CEBPA is crucial for normal granulopoiesis, and dominant-negative mutations of the CEBPA gene are found in a significant proportion of malignant cells from patients with myeloblastic subtypes (M1 and M2) of acute myeloid leukemia (AML; <a href="/entry/601626">601626</a>). <a href="#14" class="mim-tip-reference" title="Pabst, T., Mueller, B. U., Harakawa, N., Schoch, C., Haferlach, T., Behre, G., Hiddemann, W., Zhang, D.-E., Tenen, D. G. <strong>AML1-ETO downregulates the granulocytic differentiation factor C/EBP-alpha in t(8;21) myeloid leukemia.</strong> Nature Med. 7: 444-451, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11283671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11283671</a>] [<a href="https://doi.org/10.1038/86515" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11283671">Pabst et al. (2001)</a> demonstrated that the AML1 (RUNX1; <a href="/entry/151385">151385</a>)-ETO (CBFA2T1; <a href="/entry/133435">133435</a>) fusion protein suppressed CEBPA expression. <a href="#9" class="mim-tip-reference" title="Helbling, D., Mueller, B. U., Timchenko, N. A., Hagemeijer, A., Jotterand, M., Meyer-Monard, S., Lister, A., Rowley, J. D., Huegli, B., Fey, M. F., Pabst, T. <strong>The leukemic fusion gene AML1-MDS1-EVI1 suppresses CEBPA in acute myeloid leukemia by activation of calreticulin.</strong> Proc. Nat. Acad. Sci. 101: 13312-13317, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15326310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15326310</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15326310[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0404731101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15326310">Helbling et al. (2004)</a> found that the leukemic AML1-MDS1-EAI1 (AME; see <a href="/entry/151385">151385</a>) fusion protein suppressed CEBPA protein. In contrast to the AML1-ETO fusion, AME failed to suppress CEBPA mRNA expression. <a href="#9" class="mim-tip-reference" title="Helbling, D., Mueller, B. U., Timchenko, N. A., Hagemeijer, A., Jotterand, M., Meyer-Monard, S., Lister, A., Rowley, J. D., Huegli, B., Fey, M. F., Pabst, T. <strong>The leukemic fusion gene AML1-MDS1-EVI1 suppresses CEBPA in acute myeloid leukemia by activation of calreticulin.</strong> Proc. Nat. Acad. Sci. 101: 13312-13317, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15326310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15326310</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=15326310[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.0404731101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15326310">Helbling et al. (2004)</a> found that a putative inhibitor of CEBPA translation, calreticulin (CRT; <a href="/entry/109091">109091</a>), was strongly activated after induction of AME in a cell line experimental system (14.8-fold) and in AME patient samples (12.2-fold). Moreover, inhibition of CRT by small interfering RNA restored CEBPA levels. These results identified CEBPA as a key target of the leukemic fusion protein AME and suggested that modulation of CEBPA by CRT may represent a mechanism involved in the differentiation block in AME leukemias. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=15326310+11283671" 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="Menard, C., Hein, P., Paquin, A., Savelson, A., Yang, X. M., Lederfein, D., Barnabe-Heider, F., Mir, A. A., Sterneck, E., Peterson, A. C., Johnson, P. F., Vinson, C., Miller, F. D. <strong>An essential role for a MEK-C/EBP pathway during growth factor-regulated cortical neurogenesis.</strong> Neuron 36: 597-610, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12441050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12441050</a>] [<a href="https://doi.org/10.1016/s0896-6273(02)01026-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12441050">Menard et al. (2002)</a> showed that Cebpa was expressed in mouse cortical progenitor cells and could induce expression of a reporter gene containing the minimal promoter of alpha-tubulin (TUBA1A; <a href="/entry/602529">602529</a>), a neuron-specific gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12441050" 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="Skokowa, J., Cario, G., Uenalan, M., Schambach, A., Germeshausen, M., Battmer, K., Zeidler, C., Lehmann, U., Eder, M., Baum, C., Grosschedl, R., Stanulla, M., Scherr, M., Welte, K. <strong>LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia.</strong> Nature Med. 12: 1191-1197, 2006. Note: Erratum: Nature Med. 12: 1329 only, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17063141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17063141</a>] [<a href="https://doi.org/10.1038/nm1474" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17063141">Skokowa et al. (2006)</a> found significantly decreased or absent LEF1 (<a href="/entry/153245">153245</a>) expression in arrested promyelocytes from patients with congenital neutropenia (see <a href="/entry/202700">202700</a>). Competitive binding and chromatin immunoprecipitation (ChIP) assays showed that LEF1 directly bound to and regulated CEBPA, suggesting that LEF1-dependent downregulation of CEBPA in congenital neutropenia leads to a maturation block in promyelocytes similar to that seen in CEBPA dominant-negative AML. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17063141" 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 peptide analysis of nuclear proteins that interacted with CEBPA, <a href="#1" class="mim-tip-reference" title="Bararia, D., Trivedi, A. K., Zada, A. A. P., Greif, P. A., Mulaw, M. A., Christopeit, M., Hiddemann, W., Bohlander, S. K., Behre, G. <strong>Proteomic identification of the MYST domain histone acetyltransferase TIP60 (HTATIP) as a co-activator of the myeloid transcription factor C/EBP-alpha.</strong> Leukemia 22: 800-807, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18239623/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18239623</a>] [<a href="https://doi.org/10.1038/sj.leu.2405101" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18239623">Bararia et al. (2008)</a> identified TIP60 (KAT5; <a href="/entry/601409">601409</a>) as a CEBPA binding partner. The interaction was confirmed by coprecipitation analysis and protein pull-down assays. TIP60 enhanced the ability of CEBPA to transactivate a TK (TK1; <a href="/entry/188300">188300</a>) promoter containing 2 CCAAT sites, and the histone acetyltransferase activity of TIP60 was required for its cooperativity with CEBPA. Domain analysis revealed that TIP60 interacted with the DNA-binding and transactivation domains of CEBPA. Immunoprecipitation analysis showed that TIP60 was recruited to the promoters of CEBPA and GCSFR (CSF3R; <a href="/entry/138971">138971</a>) following beta-estradiol-induced differentiation of K562 myelogenous leukemia cells, which was concomitant with histone acetylation at the CEBPA and GCSFR promoters. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18239623" 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="Reddy, S. D. N., Pakala, S. B., Ohshiro, K., Rayala, S. K., Kumar, R. <strong>MicroRNA-661, a c/EBP-alpha target, inhibits metastatic tumor antigen 1 and regulates its functions.</strong> Cancer Res. 69: 5639-5642, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19584269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19584269</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19584269[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/10.1158/0008-5472.CAN-09-0898" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19584269">Reddy et al. (2009)</a> showed that microRNA-661 (MIR661; <a href="/entry/613716">613716</a>) downregulated expression of MTA1 (<a href="/entry/603526">603526</a>), a gene that is upregulated in several cancers. They identified putative CEBP-alpha-binding sites in the promoter region of the MIR661 gene. Reporter gene assays showed that CEBP-alpha upregulated MIR661 expression in transfected HeLa and MDA-231 breast cancer cells. Expression of CEBP-alpha and MIR661 was inversely proportional to that of MTA1 in breast cancer cell lines, and the level of MTA1 protein was progressively upregulated with increasing metastatic potential. Overexpression of MIR661 in MDA-231 breast cancer cells inhibited cell motility, invasiveness, and anchorage-independent growth, and it reduced their ability to form tumors in a xenograft model. <a href="#16" class="mim-tip-reference" title="Reddy, S. D. N., Pakala, S. B., Ohshiro, K., Rayala, S. K., Kumar, R. <strong>MicroRNA-661, a c/EBP-alpha target, inhibits metastatic tumor antigen 1 and regulates its functions.</strong> Cancer Res. 69: 5639-5642, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19584269/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19584269</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19584269[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/10.1158/0008-5472.CAN-09-0898" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19584269">Reddy et al. (2009)</a> concluded that CEBP-alpha downregulates MTA1 expression and cancer cell growth by upregulating expression of MIR661. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19584269" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Di Ruscio, A., Ebralidze, A. K., Benoukraf, T., Amabile, G., Goff, L. A., Terragni, J., Figueroa, M. E., De Figueiredo Pontes, L. L., Alberich-Jorda, M., Zhang, P., Wu, M., D'Alo, F., Melnick, A., Leone, G., Ebralidze, K. K., Pradhan, S., Rinn, J. L., Tenen, D. G. <strong>DNMT1-interacting RNAs block gene-specific DNA methylation.</strong> Nature 503: 371-376, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24107992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24107992</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24107992[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/nature12598" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24107992">Di Ruscio et al. (2013)</a> presented data demonstrating that active transcription regulates levels of genomic methylation. They identified a novel nuclear nonpolyadenylated noncoding RNA (ncRNA) arising from the CEBPA gene locus that is critical in regulating the local DNA methylation profile. They termed this ncRNA 'extracoding CEBPA' (ecCEBPA) because it encompasses the entire mRNA sequence in the same-sense orientation. ecCEBPA binds to DNMT1 (<a href="/entry/126375">126375</a>) and prevents CEBPA gene locus methylation. Deep sequencing of transcripts associated with DNMT1 combined with genome-scale methylation and expression profiling extended the generality of this finding to numerous gene loci. <a href="#6" class="mim-tip-reference" title="Di Ruscio, A., Ebralidze, A. K., Benoukraf, T., Amabile, G., Goff, L. A., Terragni, J., Figueroa, M. E., De Figueiredo Pontes, L. L., Alberich-Jorda, M., Zhang, P., Wu, M., D'Alo, F., Melnick, A., Leone, G., Ebralidze, K. K., Pradhan, S., Rinn, J. L., Tenen, D. G. <strong>DNMT1-interacting RNAs block gene-specific DNA methylation.</strong> Nature 503: 371-376, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24107992/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24107992</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=24107992[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/nature12598" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24107992">Di Ruscio et al. (2013)</a> concluded that these results delineated the nature of DNMT1-RNA interactions and suggested strategies for gene-selective demethylation of therapeutic targets in human diseases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24107992" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In mouse primary B cells, <a href="#7" class="mim-tip-reference" title="Di Stefano, B., Sardina, J. L., van Oevelen, C., Collombet, S., Kallin, E. M., Vicent, G. P., Lu, J., Thieffry, D., Beato, M., Graf, T. <strong>C/EBP-alpha poises B cells for rapid reprogramming into induced pluripotent stem cells.</strong> Nature 506: 235-239, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24336202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24336202</a>] [<a href="https://doi.org/10.1038/nature12885" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24336202">Di Stefano et al. (2014)</a> found that transient CEBPA expression followed by Oct4 (<a href="/entry/164177">164177</a>), Sox2 (<a href="/entry/184429">184429</a>), Klf4 (<a href="/entry/602253">602253</a>), and Myc (<a href="/entry/190080">190080</a>) (collectively known as OSKM) activation induces a 100-fold increase in induced pluripotent stem (iPS) cell reprogramming efficiency, involving 95% of the population. During this conversion, pluripotency and epithelial-mesenchymal transition genes become markedly upregulated, and 60% of the cells express Oct4 within 2 days. CEBPA acts as a pathbreaker as it transiently makes the chromatin of pluripotency genes more accessible to DNaseI (<a href="/entry/125505">125505</a>). CEBPA also induces the expression of the dioxygenase Tet2 (<a href="/entry/612839">612839</a>) and promotes its translocation to the nucleus where it binds to regulatory regions of pluripotency genes that become demethylated after OSKM induction. In line with these findings, overexpression of Tet2 enhances OSKM-induced B-cell reprogramming. Because the enzyme is also required for efficient CEBPA-induced immune cell conversion, the data of <a href="#7" class="mim-tip-reference" title="Di Stefano, B., Sardina, J. L., van Oevelen, C., Collombet, S., Kallin, E. M., Vicent, G. P., Lu, J., Thieffry, D., Beato, M., Graf, T. <strong>C/EBP-alpha poises B cells for rapid reprogramming into induced pluripotent stem cells.</strong> Nature 506: 235-239, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/24336202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">24336202</a>] [<a href="https://doi.org/10.1038/nature12885" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="24336202">Di Stefano et al. (2014)</a> indicated that TET2 provides a mechanistic link between iPS cell reprogramming and B-cell transdifferentiation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=24336202" 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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In affected members of a family with acute myeloid leukemia (AML; <a href="/entry/601626">601626</a>), <a href="#19" class="mim-tip-reference" title="Smith, M. L., Cavenagh, J. D., Lister, T. A., Fitzgibbon, J. <strong>Mutation of CEBPA in familial acute myeloid leukemia.</strong> New Eng. J. Med. 351: 2403-2407, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15575056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15575056</a>] [<a href="https://doi.org/10.1056/NEJMoa041331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15575056">Smith et al. (2004)</a> identified a germline 1-bp deletion (212delC) in the CEBPA gene, resulting in the presence of 5 cytosine residues in a region where 6 cytosine residues are present in the wildtype sequence. Overt leukemia developed in the father at age 10 years, in the first-born son at age 30 years, and in the last-born daughter at age 18 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15575056" 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><strong><em>Somatic Mutations</em></strong></p><p>
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<a href="#15" class="mim-tip-reference" title="Pabst, T., Mueller, B. U., Zhang, P., Radomska, H. S., Narravula, S., Schnittger, S., Behre, G., Hiddemann, W., Tenen, D. G. <strong>Dominant-negative mutations of CEBPA, encoding CCAAT/enhancer binding protein-alpha (C/EBP-alpha), in acute myeloid leukemia.</strong> Nature Genet. 27: 263-270, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11242107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11242107</a>] [<a href="https://doi.org/10.1038/85820" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11242107">Pabst et al. (2001)</a> noted that in the hematopoietic system, CEBPA is exclusively expressed in myelomonocytic cells. It is specifically upregulated during granulocytic differentiation. No mature granulocytes are observed in Cebpa-mutant mice, whereas all the other blood cell types are present in normal proportions. In acute myeloid leukemia (<a href="/entry/601626">601626</a>), the most prominent abnormality is a block in differentiation of granulocytic blasts. With this background information, <a href="#15" class="mim-tip-reference" title="Pabst, T., Mueller, B. U., Zhang, P., Radomska, H. S., Narravula, S., Schnittger, S., Behre, G., Hiddemann, W., Tenen, D. G. <strong>Dominant-negative mutations of CEBPA, encoding CCAAT/enhancer binding protein-alpha (C/EBP-alpha), in acute myeloid leukemia.</strong> Nature Genet. 27: 263-270, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11242107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11242107</a>] [<a href="https://doi.org/10.1038/85820" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11242107">Pabst et al. (2001)</a> studied samples from AML patients and demonstrated that CEBPA is mutated in 16% of AML-M2 patients that lack the 8;21 translocation (ETO, <a href="/entry/133435">133435</a>; RUNX1, <a href="/entry/151385">151385</a>). They found that 5 mutations in the N terminus truncated the full-length protein, but did not affect the 30-kD protein initiated further downstream. The mutated proteins blocked wildtype C/EBP-alpha DNA binding and transactivation of granulocyte target genes in a dominant-negative manner, and failed to induce the granulocytic differentiation. This was the first report of CEBPA mutations in human neoplasia. <a href="#15" class="mim-tip-reference" title="Pabst, T., Mueller, B. U., Zhang, P., Radomska, H. S., Narravula, S., Schnittger, S., Behre, G., Hiddemann, W., Tenen, D. G. <strong>Dominant-negative mutations of CEBPA, encoding CCAAT/enhancer binding protein-alpha (C/EBP-alpha), in acute myeloid leukemia.</strong> Nature Genet. 27: 263-270, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11242107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11242107</a>] [<a href="https://doi.org/10.1038/85820" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11242107">Pabst et al. (2001)</a> detected 5 deletions, 2 insertions, and 4 point mutations in the CEBPA gene (see, e.g., <a href="#0001">116897.0001</a>-<a href="#0003">116897.0003</a>). All deletions caused a shift into the same alternative reading frame, as the number of missing basepairs was (3n+1). The mean age at diagnosis of the patients with CEBPA mutations was 66 years. CEBPA mutations were found in 7.3% of AML patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11242107" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#20" class="mim-tip-reference" title="Snaddon, J., Smith, M. L., Neat, M., Cambal-Parrales, M., Dixon-McIver, A., Arch, R., Amess, J. A., Rohatiner, A. Z., Lister, T. A., Fitzgibbon, J. <strong>Mutations of CEBPA in acute myeloid leukemia FAB types M1 and M2.</strong> Genes Chromosomes Cancer 37: 72-78, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12661007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12661007</a>] [<a href="https://doi.org/10.1002/gcc.10185" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12661007">Snaddon et al. (2003)</a> stated that the t(8;21) translocation is found in 10 to 15% of cases of AML, particularly those of the M2 subtype, where it accounts for 40% of cases. Using a PCR-SSCP and sequencing approach, they screened for CEBPA mutations in 99 patients with AML type M1 or M2. They identified 9 somatic CEBPA mutations in 8 patients. All of the mutations were clustered toward the C terminus of the protein. Two patients carried biallelic mutations: one was homozygous for a 57-bp insertion at nucleotide 1137 (<a href="#0004">116897.0004</a>) and the other was compound heterozygous for a 27-bp insertion at nucleotide 1096 (<a href="#0005">116897.0005</a>) and a 4-bp insertion (GGCC) at nucleotide 363 (<a href="#0006">116897.0006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12661007" 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>To explore the evolution of gene regulation, <a href="#17" class="mim-tip-reference" title="Schmidt, D., Wilson, M. D., Ballester, B., Schwalie, P. C., Brown, G. D., Marshall, A., Kutter, C., Watt, S., Martinez-Jimenez, C. P., Mackay, S., Talianidis, I., Flicek, P., Odom, D. T. <strong>Five-vertebrate ChIP-seq reveals the evolutionary dynamics of transcription factor binding.</strong> Science 328: 1036-1040, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20378774/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20378774</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20378774[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/10.1126/science.1186176" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20378774">Schmidt et al. (2010)</a> used chromatin immunoprecipitation with high-throughput sequencing (ChIP-seq) to determine experimentally the genomewide occupancy of 2 transcription factors, CEBPA and HNF4A (<a href="/entry/600281">600281</a>), in the livers of 5 vertebrates: Homo sapiens, Mus musculus, Canis familiaris, Monodelphis domesticus (short-tailed opossum), and Gallus gallus. Although each transcription factor displayed highly conserved DNA binding preferences, most binding was species-specific, and aligned binding events present in all 5 species were rare. Regions near genes with expression levels that are dependent on a transcription factor were often bound by the transcription factor in multiple species yet showed no enhanced DNA sequence constraint. Binding divergence between species can be largely explained by sequence changes to the bound motifs. Among the binding events lost in one lineage, only half are recovered by another binding event within 10 kb. <a href="#17" class="mim-tip-reference" title="Schmidt, D., Wilson, M. D., Ballester, B., Schwalie, P. C., Brown, G. D., Marshall, A., Kutter, C., Watt, S., Martinez-Jimenez, C. P., Mackay, S., Talianidis, I., Flicek, P., Odom, D. T. <strong>Five-vertebrate ChIP-seq reveals the evolutionary dynamics of transcription factor binding.</strong> Science 328: 1036-1040, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20378774/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20378774</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20378774[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/10.1126/science.1186176" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20378774">Schmidt et al. (2010)</a> concluded that their results revealed large interspecies differences in transcriptional regulation and provided insight into regulatory evolution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20378774" 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>According to the nomenclature proposed by <a href="#4" class="mim-tip-reference" title="Cao, Z., Umek, R. M., McKnight, S. L. <strong>Regulated expression of three C/EBP isoforms during adipose conversion of 3T3-L1 cells.</strong> Genes Dev. 5: 1538-1552, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1840554/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1840554</a>] [<a href="https://doi.org/10.1101/gad.5.9.1538" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1840554">Cao et al. (1991)</a>, the CCAAT/enhancer-binding protein is C/EBP-alpha and NF-IL6 (LAP) is C/EBP-beta, with the corresponding genes being CEBPA and CEBPB (<a href="/entry/189965">189965</a>). CEBPB was formerly symbolized TCF5. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1840554" 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="#24" class="mim-tip-reference" title="Wang, N., Finegold, M. J., Bradley, A., Ou, C. N., Abdelsayed, S. V., Wilde, M. D., Taylor, L. R., Wilson, D. R., Darlington, G. J. <strong>Impaired energy homeostasis in C/EBP-alpha knockout mice.</strong> Science 269: 1108-1112, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7652557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7652557</a>] [<a href="https://doi.org/10.1126/science.7652557" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7652557">Wang et al. (1995)</a> found that mice homozygous for the targeted deletion of the Cebpa gene did not store hepatic glycogen and died from hypoglycemia within 8 hours after birth. In these mutant mice, the amounts of glycogen synthase (<a href="/entry/138571">138571</a>) mRNA were 50 to 70% of normal and the transcriptional induction of the genes for 2 gluconeogenic enzymes, phosphoenolpyruvate carboxykinase (<a href="/entry/261680">261680</a>) and glucose-6-phosphatase (<a href="/entry/613742">613742</a>), was delayed. The hepatocytes and adipocytes of the mutant mice failed to accumulate lipid, and the expression of the gene for uncoupling protein (<a href="/entry/113730">113730</a>), the defining marker of brown adipose tissue, was reduced. The findings demonstrated that C/EBP-alpha is critical for the establishment and maintenance of energy homeostasis in neonates. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7652557" 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="#8" class="mim-tip-reference" title="Flodby, P., Barlow, C., Kylefjord, H., Ahrlund-Richter, L., Xanthopoulos, K. G. <strong>Increased hepatic cell proliferation and lung abnormalities in mice deficient in CCAAT/enhancer binding protein alpha.</strong> J. Biol. Chem. 271: 24753-24760, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8798745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8798745</a>] [<a href="https://doi.org/10.1074/jbc.271.40.24753" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8798745">Flodby et al. (1996)</a> made transgenic knockout mice in which the CEBPA gene was selectively disrupted. The homozygous mutant Cebpa -/- mice died, usually within the first 20 hours after birth and had defects in the control of hepatic growth and lung development. Histologic analysis revealed that these animals had severely disturbed liver architecture, with acinar formation, in a pattern suggestive of either regenerating liver or hepatocellular carcinoma. Pulmonary histology showed hyperproliferation of type II pneumocytes and disturbed alveolar architecture. Molecular analysis showed that accumulation of glycogen and lipids in the liver and adipose tissue is impaired and that the mutant animals are severely hypoglycemic. The authors found by Northern blot analysis that levels of c-myc and c-jun RNAs are specifically induced by several fold in the livers of these animals indicating an active proliferative state. They found by immunohistology that cyclin-stained cells are present in the liver of Cebpa -/- mice at a 5 to 10 times higher frequency than normal, also indicating abnormally active proliferation. <a href="#8" class="mim-tip-reference" title="Flodby, P., Barlow, C., Kylefjord, H., Ahrlund-Richter, L., Xanthopoulos, K. G. <strong>Increased hepatic cell proliferation and lung abnormalities in mice deficient in CCAAT/enhancer binding protein alpha.</strong> J. Biol. Chem. 271: 24753-24760, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8798745/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8798745</a>] [<a href="https://doi.org/10.1074/jbc.271.40.24753" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8798745">Flodby et al. (1996)</a> suggested that CEBPA may have an important role in the acquisition and maintenance of terminal differentiation in hepatocytes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8798745" 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>Mice deficient in Cebpa have defective development of adipose tissue. <a href="#25" class="mim-tip-reference" title="Wu, Z., Rosen, E. D., Brun, R., Hauser, S., Adelmant, G., Troy, A. E., McKeon, C., Darlington, G. J., Spiegelman, B. M. <strong>Cross-regulation of C/EBP-alpha and PPAR-gamma controls the transcriptional pathway of adipogenesis and insulin sensitivity.</strong> Molec. Cell 3: 151-158, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10078198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10078198</a>] [<a href="https://doi.org/10.1016/s1097-2765(00)80306-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10078198">Wu et al. (1999)</a> used fibroblasts from Cebpa -/- mice in combination with retroviral vectors expressing Cebpa and peroxisome proliferator-activated receptor-gamma (PPARG; <a href="/entry/601487">601487</a>) to determine the precise role of CEBPA in adipogenesis. The authors found that Cebpa -/- fibroblasts underwent adipose differentiation through expression and activation of Pparg. Cebpa-deficient adipocytes accumulated less lipid and did not induce endogenous Pparg, indicating that cross-regulation between CEBPA and PPARG is important in maintaining the differentiated state. The cells also showed a complete absence of insulin (INS; <a href="/entry/176730">176730</a>)-stimulated glucose transport, secondary to reduced gene expression and tyrosine phosphorylation for the Ins receptor (<a href="/entry/147670">147670</a>) and Ins receptor substrate-1 (<a href="/entry/147545">147545</a>). <a href="#25" class="mim-tip-reference" title="Wu, Z., Rosen, E. D., Brun, R., Hauser, S., Adelmant, G., Troy, A. E., McKeon, C., Darlington, G. J., Spiegelman, B. M. <strong>Cross-regulation of C/EBP-alpha and PPAR-gamma controls the transcriptional pathway of adipogenesis and insulin sensitivity.</strong> Molec. Cell 3: 151-158, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10078198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10078198</a>] [<a href="https://doi.org/10.1016/s1097-2765(00)80306-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10078198">Wu et al. (1999)</a> concluded that CEBPA has multiple roles in adipogenesis and that cross-regulation between PPARG and CEBPA is a key component of the transcriptional control of this cell lineage. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10078198" 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=116897[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">rs587776848 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776848;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=rs587776848" 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=rs587776848" 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 42-year-old patient with secondary acute myeloid leukemia (AML; <a href="/entry/601626">601626</a>) and in a 49-year-old patient with AML of the M2 subtype, <a href="#15" class="mim-tip-reference" title="Pabst, T., Mueller, B. U., Zhang, P., Radomska, H. S., Narravula, S., Schnittger, S., Behre, G., Hiddemann, W., Tenen, D. G. <strong>Dominant-negative mutations of CEBPA, encoding CCAAT/enhancer binding protein-alpha (C/EBP-alpha), in acute myeloid leukemia.</strong> Nature Genet. 27: 263-270, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11242107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11242107</a>] [<a href="https://doi.org/10.1038/85820" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11242107">Pabst et al. (2001)</a> found deletion of 7 nucleotides (263_269del7) in the CEBPA gene, resulting in a frameshift and premature termination (Pro39fsTer159). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11242107" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a 67-year-old patient with acute myeloid leukemia (AML; <a href="/entry/601626">601626</a>), <a href="#15" class="mim-tip-reference" title="Pabst, T., Mueller, B. U., Zhang, P., Radomska, H. S., Narravula, S., Schnittger, S., Behre, G., Hiddemann, W., Tenen, D. G. <strong>Dominant-negative mutations of CEBPA, encoding CCAAT/enhancer binding protein-alpha (C/EBP-alpha), in acute myeloid leukemia.</strong> Nature Genet. 27: 263-270, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11242107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11242107</a>] [<a href="https://doi.org/10.1038/85820" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11242107">Pabst et al. (2001)</a> found a 297G-T transversion in the CEBPA gene resulting in a glu50-to-ter (E50X) nonsense mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11242107" 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=RCV000019128" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019128" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019128</a>
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<p>In a 70-year-old patient with acute myeloid leukemia (<a href="/entry/601626">601626</a>), <a href="#15" class="mim-tip-reference" title="Pabst, T., Mueller, B. U., Zhang, P., Radomska, H. S., Narravula, S., Schnittger, S., Behre, G., Hiddemann, W., Tenen, D. G. <strong>Dominant-negative mutations of CEBPA, encoding CCAAT/enhancer binding protein-alpha (C/EBP-alpha), in acute myeloid leukemia.</strong> Nature Genet. 27: 263-270, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11242107/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11242107</a>] [<a href="https://doi.org/10.1038/85820" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11242107">Pabst et al. (2001)</a> found a 400A-T transversion in the CEBPA gene resulting in a his84-to-leu (H84L) missense mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11242107" 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">rs1555741948 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555741948;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=rs1555741948" 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=rs1555741948" 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=RCV000019129" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019129" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019129</a>
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<p>In a 37-year-old man with acute myeloid leukemia (<a href="/entry/601626">601626</a>) of the M1 subtype, <a href="#20" class="mim-tip-reference" title="Snaddon, J., Smith, M. L., Neat, M., Cambal-Parrales, M., Dixon-McIver, A., Arch, R., Amess, J. A., Rohatiner, A. Z., Lister, T. A., Fitzgibbon, J. <strong>Mutations of CEBPA in acute myeloid leukemia FAB types M1 and M2.</strong> Genes Chromosomes Cancer 37: 72-78, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12661007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12661007</a>] [<a href="https://doi.org/10.1002/gcc.10185" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12661007">Snaddon et al. (2003)</a> identified homozygosity for a somatic 57-bp insertion after nucleotide 1137 (1137_1138ins57) of the CEBPA gene, which was predicted to cause disruption of the leucine zipper of the protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12661007" 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">rs1555741967 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555741967;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=rs1555741967" 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=rs1555741967" 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=RCV000019130" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019130" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019130</a>
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<p>In a 72-year-old woman with acute myeloid leukemia (<a href="/entry/601626">601626</a>) of the M1 subtype, <a href="#20" class="mim-tip-reference" title="Snaddon, J., Smith, M. L., Neat, M., Cambal-Parrales, M., Dixon-McIver, A., Arch, R., Amess, J. A., Rohatiner, A. Z., Lister, T. A., Fitzgibbon, J. <strong>Mutations of CEBPA in acute myeloid leukemia FAB types M1 and M2.</strong> Genes Chromosomes Cancer 37: 72-78, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12661007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12661007</a>] [<a href="https://doi.org/10.1002/gcc.10185" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12661007">Snaddon et al. (2003)</a> identified compound heterozygosity for 2 somatic mutations in the CEBPA gene: a 27-bp insertion after nucleotide 1096, which was predicted to cause disruption of the leucine zipper, and a 4-bp insertion (363_364insGGCC; <a href="#0006">116897.0006</a>), which resulted in a frameshift at ala71 and a truncated protein. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12661007" 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">rs587776849 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs587776849;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=rs587776849" 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=rs587776849" 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=RCV000019131" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019131" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019131</a>
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<p>For discussion of the somatic 4-bp insertion (363_364insGGCC) in the CEBPA gene that was found in compound heterozygous state in a patient with acute myeloid leukemia (<a href="/entry/601626">601626</a>) of the M1 subtype by <a href="#20" class="mim-tip-reference" title="Snaddon, J., Smith, M. L., Neat, M., Cambal-Parrales, M., Dixon-McIver, A., Arch, R., Amess, J. A., Rohatiner, A. Z., Lister, T. A., Fitzgibbon, J. <strong>Mutations of CEBPA in acute myeloid leukemia FAB types M1 and M2.</strong> Genes Chromosomes Cancer 37: 72-78, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12661007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12661007</a>] [<a href="https://doi.org/10.1002/gcc.10185" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12661007">Snaddon et al. (2003)</a>, see <a href="#0005">116897.0005</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12661007" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs137852728 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs137852728;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs137852728?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs137852728" 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=rs137852728" 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=RCV000019132" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000019132" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000019132</a>
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<p><strong><em>Acute Myeloid Leukemia</em></strong></p><p>
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In affected members of a family with acute myeloid leukemia (AML; <a href="/entry/601626">601626</a>), <a href="#19" class="mim-tip-reference" title="Smith, M. L., Cavenagh, J. D., Lister, T. A., Fitzgibbon, J. <strong>Mutation of CEBPA in familial acute myeloid leukemia.</strong> New Eng. J. Med. 351: 2403-2407, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15575056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15575056</a>] [<a href="https://doi.org/10.1056/NEJMoa041331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15575056">Smith et al. (2004)</a> identified a germline 1-bp deletion (212delC) in the CEBPA gene, resulting in the presence of 5 cytosine residues in a region where 6 cytosine residues are present in the wildtype sequence. Overt leukemia developed in the father at age 10 years, in the first-born son at age 30 years, and in the last-born daughter at age 18 years. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15575056" 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><strong><em>Acute Myeloid Leukemia, Somatic</em></strong></p><p>
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In bone marrow samples from 2 cases of sporadic acute myeloid leukemia (<a href="/entry/601626">601626</a>), <a href="#2" class="mim-tip-reference" title="Barjesteh van Waalwijk van Doorn-Khosrovani, S., Erpelinck, C., Meijer, J., van Oosterhoud, S., van Putten, W. L. J., Valk, P. J. M., Beverloo, H. B., Tenen, D. G., Lowenberg, B., Delwel, R. <strong>Biallelic mutations in the CEBPA gene and low CEBPA expression levels as prognostic markers in intermediate-risk AML.</strong> Hemat. J. 4: 31-40, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12692518/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12692518</a>] [<a href="https://doi.org/10.1038/sj.thj.6200216" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12692518">Barjesteh van Waalwijk van Doorn-Khosrovani et al. (2003)</a> identified a 1-bp deletion (212delC) in the CEBPA gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12692518" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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Bararia, D., Trivedi, A. K., Zada, A. A. P., Greif, P. A., Mulaw, M. A., Christopeit, M., Hiddemann, W., Bohlander, S. K., Behre, G.
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<strong>Proteomic identification of the MYST domain histone acetyltransferase TIP60 (HTATIP) as a co-activator of the myeloid transcription factor C/EBP-alpha.</strong>
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Leukemia 22: 800-807, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18239623/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18239623</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18239623" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/sj.leu.2405101" target="_blank">Full Text</a>]
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Barjesteh van Waalwijk van Doorn-Khosrovani, S., Erpelinck, C., Meijer, J., van Oosterhoud, S., van Putten, W. L. J., Valk, P. J. M., Beverloo, H. B., Tenen, D. G., Lowenberg, B., Delwel, R.
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<strong>Biallelic mutations in the CEBPA gene and low CEBPA expression levels as prognostic markers in intermediate-risk AML.</strong>
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Hemat. J. 4: 31-40, 2003.
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[<a href="https://doi.org/10.1038/sj.thj.6200216" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1101/gad.3.8.1146" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1101/gad.5.9.1538" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1101/gad.4.9.1541" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/nature12598" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/nature12885" target="_blank">Full Text</a>]
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Skokowa, J., Cario, G., Uenalan, M., Schambach, A., Germeshausen, M., Battmer, K., Zeidler, C., Lehmann, U., Eder, M., Baum, C., Grosschedl, R., Stanulla, M., Scherr, M., Welte, K.
|
|
<strong>LEF-1 is crucial for neutrophil granulocytopoiesis and its expression is severely reduced in congenital neutropenia.</strong>
|
|
Nature Med. 12: 1191-1197, 2006. Note: Erratum: Nature Med. 12: 1329 only, 2006.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17063141/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17063141</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17063141" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/nm1474" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="19" class="mim-anchor"></a>
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<a id="Smith2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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|
Smith, M. L., Cavenagh, J. D., Lister, T. A., Fitzgibbon, J.
|
|
<strong>Mutation of CEBPA in familial acute myeloid leukemia.</strong>
|
|
New Eng. J. Med. 351: 2403-2407, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15575056/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15575056</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15575056" 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/10.1056/NEJMoa041331" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="20" class="mim-anchor"></a>
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<a id="Snaddon2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Snaddon, J., Smith, M. L., Neat, M., Cambal-Parrales, M., Dixon-McIver, A., Arch, R., Amess, J. A., Rohatiner, A. Z., Lister, T. A., Fitzgibbon, J.
|
|
<strong>Mutations of CEBPA in acute myeloid leukemia FAB types M1 and M2.</strong>
|
|
Genes Chromosomes Cancer 37: 72-78, 2003.
|
|
|
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12661007/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12661007</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12661007" 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/10.1002/gcc.10185" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="21" class="mim-anchor"></a>
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<a id="Swart1997" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Swart, G. W. M., van Groningen, J. J. M., van Ruissen, F., Bergers, M., Schalkwijk, J.
|
|
<strong>Transcription factor C/EBP-alpha: novel sites of expression and cloning of the human gene.</strong>
|
|
Biol. Chem. 378: 373-379, 1997.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9191024/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9191024</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9191024" 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/10.1515/bchm.1997.378.5.373" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="22" class="mim-anchor"></a>
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<a id="Szpirer1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Szpirer, C., Riviere, M., Cortese, R., Nakamura, T., Islam, M. Q., Levan, G., Szpirer, J.
|
|
<strong>Chromosomal localization in man and rat of the genes encoding the liver-enriched transcription factors C/EBP, DBP, and HNF1/LFB-1 (CEBP, DBP, and transcription factor 1, TCF1, respectively) and of the hepatocyte growth factor/scatter factor gene (HGF).</strong>
|
|
Genomics 13: 293-300, 1992.
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|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1535333/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1535333</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1535333" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0888-7543(92)90245-n" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="23" class="mim-anchor"></a>
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<a id="Wang2001" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wang, H., Iakova, P., Wilde, M., Welm, A., Goode, T., Roesler, W. J., Timchenko, N. A.
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<strong>C/EBP-alpha arrests cell proliferation through direct inhibition of Cdk2 and Cdk4.</strong>
|
|
Molec. Cell 8: 817-828, 2001.
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|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11684017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11684017</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11684017" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s1097-2765(01)00366-5" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="24" class="mim-anchor"></a>
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<a id="Wang1995" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wang, N., Finegold, M. J., Bradley, A., Ou, C. N., Abdelsayed, S. V., Wilde, M. D., Taylor, L. R., Wilson, D. R., Darlington, G. J.
|
|
<strong>Impaired energy homeostasis in C/EBP-alpha knockout mice.</strong>
|
|
Science 269: 1108-1112, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7652557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7652557</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7652557" 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/10.1126/science.7652557" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="25" class="mim-anchor"></a>
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<a id="Wu1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Wu, Z., Rosen, E. D., Brun, R., Hauser, S., Adelmant, G., Troy, A. E., McKeon, C., Darlington, G. J., Spiegelman, B. M.
|
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<strong>Cross-regulation of C/EBP-alpha and PPAR-gamma controls the transcriptional pathway of adipogenesis and insulin sensitivity.</strong>
|
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Molec. Cell 3: 151-158, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10078198/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10078198</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10078198" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/s1097-2765(00)80306-8" target="_blank">Full Text</a>]
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</p>
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</div>
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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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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
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<span class="mim-text-font">
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Ada Hamosh - updated : 3/13/2014
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
|
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Ada Hamosh - updated : 12/6/2013<br>Patricia A. Hartz - updated : 2/2/2011<br>Ada Hamosh - updated : 6/30/2010<br>Patricia A. Hartz - updated : 1/20/2010<br>Ada Hamosh - updated : 10/28/2008<br>Cassandra L. Kniffin - updated : 10/17/2006<br>Victor A. McKusick - updated : 3/21/2005<br>Victor A. McKusick - updated : 12/17/2004<br>Victor A. McKusick - updated : 7/18/2003<br>Stylianos E. Antonarakis - updated : 11/13/2001<br>Stylianos E. Antonarakis - updated : 3/22/1999<br>Jennifer P. Macke - updated : 11/20/1996<br>Alan F. Scott - updated : 9/17/1996<br>Mark H. Paalman - updated : 7/11/1996
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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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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
|
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Creation Date:
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</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 : 10/26/1990
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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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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
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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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carol : 09/21/2022
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</span>
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</div>
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</div>
|
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<div class="row collapse" id="mimCollapseEditHistory">
|
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 03/06/2018<br>carol : 04/28/2017<br>carol : 02/10/2015<br>mcolton : 2/9/2015<br>carol : 11/13/2014<br>carol : 11/13/2014<br>ckniffin : 11/12/2014<br>alopez : 3/13/2014<br>alopez : 12/6/2013<br>carol : 2/15/2011<br>mgross : 2/2/2011<br>mgross : 2/2/2011<br>alopez : 7/1/2010<br>terry : 6/30/2010<br>mgross : 1/20/2010<br>mgross : 12/5/2008<br>terry : 10/28/2008<br>carol : 5/14/2008<br>wwang : 12/11/2006<br>wwang : 10/25/2006<br>ckniffin : 10/17/2006<br>terry : 5/17/2005<br>mgross : 3/21/2005<br>mgross : 3/21/2005<br>terry : 2/7/2005<br>tkritzer : 1/11/2005<br>terry : 12/17/2004<br>tkritzer : 7/31/2003<br>tkritzer : 7/30/2003<br>terry : 7/18/2003<br>mgross : 11/13/2001<br>mgross : 11/13/2001<br>alopez : 3/1/2001<br>carol : 2/22/2000<br>mgross : 3/23/1999<br>mgross : 3/22/1999<br>psherman : 9/29/1998<br>alopez : 9/25/1998<br>terry : 2/21/1998<br>alopez : 7/10/1997<br>carol : 6/23/1997<br>jamie : 2/4/1997<br>terry : 1/17/1997<br>jamie : 11/20/1996<br>mark : 9/17/1996<br>mark : 7/11/1996<br>mark : 7/11/1996<br>terry : 6/28/1996<br>mark : 10/12/1995<br>terry : 9/11/1995<br>carol : 5/26/1993<br>carol : 4/7/1993<br>carol : 10/13/1992<br>carol : 9/25/1992
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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>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
|
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<strong>*</strong> 116897
|
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</span>
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</h3>
|
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</div>
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<div>
|
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<h3>
|
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<span class="mim-font">
|
|
|
|
CCAAT/ENHANCER-BINDING PROTEIN, ALPHA; CEBPA
|
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|
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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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<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>
|
|
</div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
C/EBP-ALPHA<br />
|
|
CEBP
|
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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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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: CEBPA</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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<p>
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<span class="mim-text-font">
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|
|
<strong>SNOMEDCT:</strong> 1162928000, 91861009;
|
|
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|
|
|
<strong>ICD10CM:</strong> C92.0, C92.00;
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|
<strong>ICD9CM:</strong> 205.0;
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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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<p>
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<span class="mim-text-font">
|
|
<strong>
|
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<em>
|
|
Cytogenetic location: 19q13.11
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : 19:33,299,934-33,302,534 </span>
|
|
</em>
|
|
</strong>
|
|
<span class="small">(from NCBI)</span>
|
|
</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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<h4>
|
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<span class="mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
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</span>
|
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</h4>
|
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<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td rowspan="2">
|
|
<span class="mim-font">
|
|
19q13.11
|
|
</span>
|
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</td>
|
|
|
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|
|
<td>
|
|
<span class="mim-font">
|
|
?Leukemia, acute myeloid
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
601626
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant; Somatic mutation
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
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</td>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Leukemia, acute myeloid, somatic
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</td>
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<td>
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<span class="mim-font">
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601626
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<td>
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<span class="mim-font">
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The CCAAT/enhancer-binding protein bears sequence homology and functional similarities to liver activator protein (LAP, or CEBPB; 189965) (Descombes et al., 1990). See Landschulz et al. (1989). </p><p>Using rat Cebp-alpha to screen a human liver cDNA library, followed by screening a human placenta genomic library, Swart et al. (1997) cloned full-length CEBP-alpha. The deduced 357-amino acid protein has an N-terminal transactivation domain and a C-terminal DNA-binding and dimerization domain. Northern blot analysis detected high expression of a 2.7-kb CEBP-alpha transcript in human placenta, liver, and spleen. Lower expression was detected in colon, smooth muscle, lung, and kidney medulla, and no expression was detected in kidney cortex. CEBP-alpha was also expressed in normal and psoriatic human skin, in cultured human keratinocytes, and in rat aorta and liver. Immunohistochemical analysis detected CEBP-alpha in nuclei of epidermal keratinocytes from normal human skin and lesional psoriatic skin. Intense staining was detected in suprabasal cells, hair follicle keratinocytes, and glandular sebocytes, but not in cells of the inflammatory infiltrate or capillaries. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene 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>Swart et al. (1997) determined that the CEBPA gene is intronless. </p>
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</span>
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<br />
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By means of somatic cell hybrids segregating either human or rat chromosomes, Szpirer et al. (1992) mapped the CEBP gene to human chromosome 19 and rat chromosome 1. These results provided further evidence for conservation of synteny on these chromosomes (and on mouse chromosome 7). Using human/hamster somatic cell hybrids containing restricted fragments of human chromosome 19, Hendricks-Taylor et al. (1992) mapped the CEBPA gene to chromosome 19q13.1, between the GPI (172400) and TGFB1 (190180) genes. This position was confirmed by fluorescence in situ hybridization. Birkenmeier et al. (1989) mapped the Cebpa gene to mouse chromosome 7. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Miller et al. (1996) characterized the promoter of the human gene encoding leptin (164160), a signaling factor expressed in adipose tissue with an important role in body weight homeostasis. They found that CEBPA modulates leptin expression and suggested a function for CEBPA in treatment of human obesity. </p><p>Wang et al. (2001) found that CEBPA directly interacts with CDK2 (116953) and CDK4 (123829) and arrests cell proliferation by inhibiting these kinases. A region between amino acids 175 and 187 of CEBPA was determined to be responsible for direct inhibition of cyclin-dependent kinases and caused growth arrest in cultured cells. CEBPA inhibited CDK2 activity by blocking the association of CDK2 with cyclins. The activities of Cdk4 and Cdk2 were increased in mouse Cebpa knockout livers, leading to increased proliferation. </p><p>The myeloid transcription factor CEBPA is crucial for normal granulopoiesis, and dominant-negative mutations of the CEBPA gene are found in a significant proportion of malignant cells from patients with myeloblastic subtypes (M1 and M2) of acute myeloid leukemia (AML; 601626). Pabst et al. (2001) demonstrated that the AML1 (RUNX1; 151385)-ETO (CBFA2T1; 133435) fusion protein suppressed CEBPA expression. Helbling et al. (2004) found that the leukemic AML1-MDS1-EAI1 (AME; see 151385) fusion protein suppressed CEBPA protein. In contrast to the AML1-ETO fusion, AME failed to suppress CEBPA mRNA expression. Helbling et al. (2004) found that a putative inhibitor of CEBPA translation, calreticulin (CRT; 109091), was strongly activated after induction of AME in a cell line experimental system (14.8-fold) and in AME patient samples (12.2-fold). Moreover, inhibition of CRT by small interfering RNA restored CEBPA levels. These results identified CEBPA as a key target of the leukemic fusion protein AME and suggested that modulation of CEBPA by CRT may represent a mechanism involved in the differentiation block in AME leukemias. </p><p>Menard et al. (2002) showed that Cebpa was expressed in mouse cortical progenitor cells and could induce expression of a reporter gene containing the minimal promoter of alpha-tubulin (TUBA1A; 602529), a neuron-specific gene. </p><p>Skokowa et al. (2006) found significantly decreased or absent LEF1 (153245) expression in arrested promyelocytes from patients with congenital neutropenia (see 202700). Competitive binding and chromatin immunoprecipitation (ChIP) assays showed that LEF1 directly bound to and regulated CEBPA, suggesting that LEF1-dependent downregulation of CEBPA in congenital neutropenia leads to a maturation block in promyelocytes similar to that seen in CEBPA dominant-negative AML. </p><p>By peptide analysis of nuclear proteins that interacted with CEBPA, Bararia et al. (2008) identified TIP60 (KAT5; 601409) as a CEBPA binding partner. The interaction was confirmed by coprecipitation analysis and protein pull-down assays. TIP60 enhanced the ability of CEBPA to transactivate a TK (TK1; 188300) promoter containing 2 CCAAT sites, and the histone acetyltransferase activity of TIP60 was required for its cooperativity with CEBPA. Domain analysis revealed that TIP60 interacted with the DNA-binding and transactivation domains of CEBPA. Immunoprecipitation analysis showed that TIP60 was recruited to the promoters of CEBPA and GCSFR (CSF3R; 138971) following beta-estradiol-induced differentiation of K562 myelogenous leukemia cells, which was concomitant with histone acetylation at the CEBPA and GCSFR promoters. </p><p>Reddy et al. (2009) showed that microRNA-661 (MIR661; 613716) downregulated expression of MTA1 (603526), a gene that is upregulated in several cancers. They identified putative CEBP-alpha-binding sites in the promoter region of the MIR661 gene. Reporter gene assays showed that CEBP-alpha upregulated MIR661 expression in transfected HeLa and MDA-231 breast cancer cells. Expression of CEBP-alpha and MIR661 was inversely proportional to that of MTA1 in breast cancer cell lines, and the level of MTA1 protein was progressively upregulated with increasing metastatic potential. Overexpression of MIR661 in MDA-231 breast cancer cells inhibited cell motility, invasiveness, and anchorage-independent growth, and it reduced their ability to form tumors in a xenograft model. Reddy et al. (2009) concluded that CEBP-alpha downregulates MTA1 expression and cancer cell growth by upregulating expression of MIR661. </p><p>Di Ruscio et al. (2013) presented data demonstrating that active transcription regulates levels of genomic methylation. They identified a novel nuclear nonpolyadenylated noncoding RNA (ncRNA) arising from the CEBPA gene locus that is critical in regulating the local DNA methylation profile. They termed this ncRNA 'extracoding CEBPA' (ecCEBPA) because it encompasses the entire mRNA sequence in the same-sense orientation. ecCEBPA binds to DNMT1 (126375) and prevents CEBPA gene locus methylation. Deep sequencing of transcripts associated with DNMT1 combined with genome-scale methylation and expression profiling extended the generality of this finding to numerous gene loci. Di Ruscio et al. (2013) concluded that these results delineated the nature of DNMT1-RNA interactions and suggested strategies for gene-selective demethylation of therapeutic targets in human diseases. </p><p>In mouse primary B cells, Di Stefano et al. (2014) found that transient CEBPA expression followed by Oct4 (164177), Sox2 (184429), Klf4 (602253), and Myc (190080) (collectively known as OSKM) activation induces a 100-fold increase in induced pluripotent stem (iPS) cell reprogramming efficiency, involving 95% of the population. During this conversion, pluripotency and epithelial-mesenchymal transition genes become markedly upregulated, and 60% of the cells express Oct4 within 2 days. CEBPA acts as a pathbreaker as it transiently makes the chromatin of pluripotency genes more accessible to DNaseI (125505). CEBPA also induces the expression of the dioxygenase Tet2 (612839) and promotes its translocation to the nucleus where it binds to regulatory regions of pluripotency genes that become demethylated after OSKM induction. In line with these findings, overexpression of Tet2 enhances OSKM-induced B-cell reprogramming. Because the enzyme is also required for efficient CEBPA-induced immune cell conversion, the data of Di Stefano et al. (2014) indicated that TET2 provides a mechanistic link between iPS cell reprogramming and B-cell transdifferentiation. </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Acute Myeloid Leukemia</em></strong></p><p>
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In affected members of a family with acute myeloid leukemia (AML; 601626), Smith et al. (2004) identified a germline 1-bp deletion (212delC) in the CEBPA gene, resulting in the presence of 5 cytosine residues in a region where 6 cytosine residues are present in the wildtype sequence. Overt leukemia developed in the father at age 10 years, in the first-born son at age 30 years, and in the last-born daughter at age 18 years. </p><p><strong><em>Somatic Mutations</em></strong></p><p>
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Pabst et al. (2001) noted that in the hematopoietic system, CEBPA is exclusively expressed in myelomonocytic cells. It is specifically upregulated during granulocytic differentiation. No mature granulocytes are observed in Cebpa-mutant mice, whereas all the other blood cell types are present in normal proportions. In acute myeloid leukemia (601626), the most prominent abnormality is a block in differentiation of granulocytic blasts. With this background information, Pabst et al. (2001) studied samples from AML patients and demonstrated that CEBPA is mutated in 16% of AML-M2 patients that lack the 8;21 translocation (ETO, 133435; RUNX1, 151385). They found that 5 mutations in the N terminus truncated the full-length protein, but did not affect the 30-kD protein initiated further downstream. The mutated proteins blocked wildtype C/EBP-alpha DNA binding and transactivation of granulocyte target genes in a dominant-negative manner, and failed to induce the granulocytic differentiation. This was the first report of CEBPA mutations in human neoplasia. Pabst et al. (2001) detected 5 deletions, 2 insertions, and 4 point mutations in the CEBPA gene (see, e.g., 116897.0001-116897.0003). All deletions caused a shift into the same alternative reading frame, as the number of missing basepairs was (3n+1). The mean age at diagnosis of the patients with CEBPA mutations was 66 years. CEBPA mutations were found in 7.3% of AML patients. </p><p>Snaddon et al. (2003) stated that the t(8;21) translocation is found in 10 to 15% of cases of AML, particularly those of the M2 subtype, where it accounts for 40% of cases. Using a PCR-SSCP and sequencing approach, they screened for CEBPA mutations in 99 patients with AML type M1 or M2. They identified 9 somatic CEBPA mutations in 8 patients. All of the mutations were clustered toward the C terminus of the protein. Two patients carried biallelic mutations: one was homozygous for a 57-bp insertion at nucleotide 1137 (116897.0004) and the other was compound heterozygous for a 27-bp insertion at nucleotide 1096 (116897.0005) and a 4-bp insertion (GGCC) at nucleotide 363 (116897.0006). </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Evolution</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>To explore the evolution of gene regulation, Schmidt et al. (2010) used chromatin immunoprecipitation with high-throughput sequencing (ChIP-seq) to determine experimentally the genomewide occupancy of 2 transcription factors, CEBPA and HNF4A (600281), in the livers of 5 vertebrates: Homo sapiens, Mus musculus, Canis familiaris, Monodelphis domesticus (short-tailed opossum), and Gallus gallus. Although each transcription factor displayed highly conserved DNA binding preferences, most binding was species-specific, and aligned binding events present in all 5 species were rare. Regions near genes with expression levels that are dependent on a transcription factor were often bound by the transcription factor in multiple species yet showed no enhanced DNA sequence constraint. Binding divergence between species can be largely explained by sequence changes to the bound motifs. Among the binding events lost in one lineage, only half are recovered by another binding event within 10 kb. Schmidt et al. (2010) concluded that their results revealed large interspecies differences in transcriptional regulation and provided insight into regulatory evolution. </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Nomenclature</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>According to the nomenclature proposed by Cao et al. (1991), the CCAAT/enhancer-binding protein is C/EBP-alpha and NF-IL6 (LAP) is C/EBP-beta, with the corresponding genes being CEBPA and CEBPB (189965). CEBPB was formerly symbolized TCF5. </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>Wang et al. (1995) found that mice homozygous for the targeted deletion of the Cebpa gene did not store hepatic glycogen and died from hypoglycemia within 8 hours after birth. In these mutant mice, the amounts of glycogen synthase (138571) mRNA were 50 to 70% of normal and the transcriptional induction of the genes for 2 gluconeogenic enzymes, phosphoenolpyruvate carboxykinase (261680) and glucose-6-phosphatase (613742), was delayed. The hepatocytes and adipocytes of the mutant mice failed to accumulate lipid, and the expression of the gene for uncoupling protein (113730), the defining marker of brown adipose tissue, was reduced. The findings demonstrated that C/EBP-alpha is critical for the establishment and maintenance of energy homeostasis in neonates. </p><p>Flodby et al. (1996) made transgenic knockout mice in which the CEBPA gene was selectively disrupted. The homozygous mutant Cebpa -/- mice died, usually within the first 20 hours after birth and had defects in the control of hepatic growth and lung development. Histologic analysis revealed that these animals had severely disturbed liver architecture, with acinar formation, in a pattern suggestive of either regenerating liver or hepatocellular carcinoma. Pulmonary histology showed hyperproliferation of type II pneumocytes and disturbed alveolar architecture. Molecular analysis showed that accumulation of glycogen and lipids in the liver and adipose tissue is impaired and that the mutant animals are severely hypoglycemic. The authors found by Northern blot analysis that levels of c-myc and c-jun RNAs are specifically induced by several fold in the livers of these animals indicating an active proliferative state. They found by immunohistology that cyclin-stained cells are present in the liver of Cebpa -/- mice at a 5 to 10 times higher frequency than normal, also indicating abnormally active proliferation. Flodby et al. (1996) suggested that CEBPA may have an important role in the acquisition and maintenance of terminal differentiation in hepatocytes. </p><p>Mice deficient in Cebpa have defective development of adipose tissue. Wu et al. (1999) used fibroblasts from Cebpa -/- mice in combination with retroviral vectors expressing Cebpa and peroxisome proliferator-activated receptor-gamma (PPARG; 601487) to determine the precise role of CEBPA in adipogenesis. The authors found that Cebpa -/- fibroblasts underwent adipose differentiation through expression and activation of Pparg. Cebpa-deficient adipocytes accumulated less lipid and did not induce endogenous Pparg, indicating that cross-regulation between CEBPA and PPARG is important in maintaining the differentiated state. The cells also showed a complete absence of insulin (INS; 176730)-stimulated glucose transport, secondary to reduced gene expression and tyrosine phosphorylation for the Ins receptor (147670) and Ins receptor substrate-1 (147545). Wu et al. (1999) concluded that CEBPA has multiple roles in adipogenesis and that cross-regulation between PPARG and CEBPA is a key component of the transcriptional control of this cell lineage. </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>7 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 LEUKEMIA, ACUTE MYELOID, SOMATIC</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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CEBPA, 7-BP DEL, NT263
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<br />
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SNP: rs587776848,
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ClinVar: RCV000019126
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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 42-year-old patient with secondary acute myeloid leukemia (AML; 601626) and in a 49-year-old patient with AML of the M2 subtype, Pabst et al. (2001) found deletion of 7 nucleotides (263_269del7) in the CEBPA gene, resulting in a frameshift and premature termination (Pro39fsTer159). </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 LEUKEMIA, ACUTE MYELOID, SOMATIC</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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CEBPA, GLU50TER
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<br />
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SNP: rs121912791,
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ClinVar: RCV000019127
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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 67-year-old patient with acute myeloid leukemia (AML; 601626), Pabst et al. (2001) found a 297G-T transversion in the CEBPA gene resulting in a glu50-to-ter (E50X) nonsense mutation. </p>
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</span>
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</div>
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<div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 LEUKEMIA, ACUTE MYELOID, SOMATIC</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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CEBPA, HIS84LEU
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<br />
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SNP: rs28931590,
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ClinVar: RCV000019128
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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 70-year-old patient with acute myeloid leukemia (601626), Pabst et al. (2001) found a 400A-T transversion in the CEBPA gene resulting in a his84-to-leu (H84L) missense mutation. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 LEUKEMIA, ACUTE MYELOID, SOMATIC</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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CEBPA, 57-BP INS, NT1137
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<br />
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SNP: rs1555741948,
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ClinVar: RCV000019129
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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 37-year-old man with acute myeloid leukemia (601626) of the M1 subtype, Snaddon et al. (2003) identified homozygosity for a somatic 57-bp insertion after nucleotide 1137 (1137_1138ins57) of the CEBPA gene, which was predicted to cause disruption of the leucine zipper of the protein. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0005 LEUKEMIA, ACUTE MYELOID, SOMATIC</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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CEBPA, 27-BP INS, NT1096
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<br />
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SNP: rs1555741967,
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ClinVar: RCV000019130
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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 72-year-old woman with acute myeloid leukemia (601626) of the M1 subtype, Snaddon et al. (2003) identified compound heterozygosity for 2 somatic mutations in the CEBPA gene: a 27-bp insertion after nucleotide 1096, which was predicted to cause disruption of the leucine zipper, and a 4-bp insertion (363_364insGGCC; 116897.0006), which resulted in a frameshift at ala71 and a truncated protein. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0006 LEUKEMIA, ACUTE MYELOID, SOMATIC</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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CEBPA, 4-BP INS, 363GGCC
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<br />
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SNP: rs587776849,
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ClinVar: RCV000019131
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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>For discussion of the somatic 4-bp insertion (363_364insGGCC) in the CEBPA gene that was found in compound heterozygous state in a patient with acute myeloid leukemia (601626) of the M1 subtype by Snaddon et al. (2003), see 116897.0005. </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>.0007 LEUKEMIA, ACUTE MYELOID (1 family)</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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LEUKEMIA, ACUTE MYELOID, SOMATIC
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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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CEBPA, 1-BP DEL, 212C
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<br />
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SNP: rs137852728,
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gnomAD: rs137852728,
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ClinVar: RCV000019132
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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 />
|
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<p><strong><em>Acute Myeloid Leukemia</em></strong></p><p>
|
|
In affected members of a family with acute myeloid leukemia (AML; 601626), Smith et al. (2004) identified a germline 1-bp deletion (212delC) in the CEBPA gene, resulting in the presence of 5 cytosine residues in a region where 6 cytosine residues are present in the wildtype sequence. Overt leukemia developed in the father at age 10 years, in the first-born son at age 30 years, and in the last-born daughter at age 18 years. </p><p><strong><em>Acute Myeloid Leukemia, Somatic</em></strong></p><p>
|
|
In bone marrow samples from 2 cases of sporadic acute myeloid leukemia (601626), Barjesteh van Waalwijk van Doorn-Khosrovani et al. (2003) identified a 1-bp deletion (212delC) in the CEBPA gene. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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<strong>Proteomic identification of the MYST domain histone acetyltransferase TIP60 (HTATIP) as a co-activator of the myeloid transcription factor C/EBP-alpha.</strong>
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<strong>The CCAAT/enhancer binding protein (C/EBP-alpha) gene (CEBPA) maps to human chromosome 19q13.1 and the related nuclear factor NF-IL6 (C/EBP-beta) gene (CEBPB) maps to human chromosome 20q13.1.</strong>
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Wang, H., Iakova, P., Wilde, M., Welm, A., Goode, T., Roesler, W. J., Timchenko, N. A.
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<strong>C/EBP-alpha arrests cell proliferation through direct inhibition of Cdk2 and Cdk4.</strong>
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[PubMed: 11684017]
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<p class="mim-text-font">
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<strong>Impaired energy homeostasis in C/EBP-alpha knockout mice.</strong>
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Science 269: 1108-1112, 1995.
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[PubMed: 7652557]
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[Full Text: https://doi.org/10.1126/science.7652557]
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Wu, Z., Rosen, E. D., Brun, R., Hauser, S., Adelmant, G., Troy, A. E., McKeon, C., Darlington, G. J., Spiegelman, B. M.
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<strong>Cross-regulation of C/EBP-alpha and PPAR-gamma controls the transcriptional pathway of adipogenesis and insulin sensitivity.</strong>
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[PubMed: 10078198]
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[Full Text: https://doi.org/10.1016/s1097-2765(00)80306-8]
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Ada Hamosh - updated : 3/13/2014<br>Ada Hamosh - updated : 12/6/2013<br>Patricia A. Hartz - updated : 2/2/2011<br>Ada Hamosh - updated : 6/30/2010<br>Patricia A. Hartz - updated : 1/20/2010<br>Ada Hamosh - updated : 10/28/2008<br>Cassandra L. Kniffin - updated : 10/17/2006<br>Victor A. McKusick - updated : 3/21/2005<br>Victor A. McKusick - updated : 12/17/2004<br>Victor A. McKusick - updated : 7/18/2003<br>Stylianos E. Antonarakis - updated : 11/13/2001<br>Stylianos E. Antonarakis - updated : 3/22/1999<br>Jennifer P. Macke - updated : 11/20/1996<br>Alan F. Scott - updated : 9/17/1996<br>Mark H. Paalman - updated : 7/11/1996
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Victor A. McKusick : 10/26/1990
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