4069 lines
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Entry
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- *133171 - ERYTHROPOIETIN RECEPTOR; EPOR
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*133171</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#animalModel">Animal Model</a>
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/133171">Table View</a>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</div>
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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=ENSG00000187266;t=ENST00000222139" 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=2057" 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=133171" 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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<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=ENSG00000187266;t=ENST00000222139" 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_000121,NR_033663" 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_000121" 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=133171" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=00587&isoform_id=00587_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/EPOR" 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/119524,182134,182201,182245,255497,553281,1228086,1655590,4503591,8169051,85566834,119604611,119604612,119604613,119604614,161375747,189054739,392055957,392055959,1812756900,1812756902,1812756904,1812756906,1812756908,1812756910,1812756912,1812756914,1812756916,1812756918,1812756920,1812756922,1812756924,1812756926,1812756928,1812756930,1812756932,1812756934,1812756936,2198158504,2198158506" 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/P19235" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=2057" 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=ENSG00000187266;t=ENST00000222139" 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=EPOR" 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=EPOR" 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+2057" 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/EPOR" 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:2057" 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/2057" 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=ENST00000222139.11&hgg_start=11377207&hgg_end=11384314&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://medlineplus.gov/genetics/gene/epor" 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=133171[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=133171[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/ENSG00000187266" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=EPOR" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=EPOR" 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=EPOR" 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=EPOR&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/PA27834" 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:3416" 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://www.mousephenotype.org/data/genes/MGI:95408" 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/EPOR#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:95408" 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/2057/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=2057" 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-071116-1" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:2057" 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=EPOR&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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133171
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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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|
ERYTHROPOIETIN RECEPTOR; EPOR
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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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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=EPOR" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">EPOR</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/19/298?start=-3&limit=10&highlight=298">19p13.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr19:11377207-11384314&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'})">19:11,377,207-11,384,314</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="geneMap" class="mim-anchor"></a>
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<div style="margin-bottom: 10px;">
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<span class="h4 mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</div>
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<div>
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<table class="table table-bordered table-condensed table-hover small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
|
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<span class="mim-font">
|
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<a href="/geneMap/19/298?start=-3&limit=10&highlight=298">
|
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19p13.2
|
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</a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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[Erythrocytosis, familial, 1]
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</span>
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</td>
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<td>
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<span class="mim-font">
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<a href="/entry/133100"> 133100 </a>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
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</span>
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</td>
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<td>
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<span class="mim-font">
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
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<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
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</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/133171" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/133171" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
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</ul>
|
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</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
|
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
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<strong>TEXT</strong>
|
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</span>
|
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</span>
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</h4>
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<div>
|
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<a id="cloning" class="mim-anchor"></a>
|
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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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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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#13" class="mim-tip-reference" title="Jones, S. S., D'Andrea, A. D., Haines, L. L., Wong, G. G. <strong>Human erythropoietin receptor: cloning, expression, and biologic characterization.</strong> Blood 76: 31-35, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2163696/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2163696</a>]" pmid="2163696">Jones et al. (1990)</a> isolated the human homolog of the murine erythropoietin (EPO; <a href="/entry/133170">133170</a>) receptor (EPOR) from an erythroleukemia cell line and from fetal liver. Both the cDNA and the protein sequence of the human receptor were 82% homologous to the murine receptor. Heterologous expression of the human cDNA in COS cells yielded a 508-amino acid protein with a molecular mass of approximately 66 kD. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2163696" 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="D'Andrea, A. D., Zon, L. I. <strong>Erythropoietin receptor: subunit structure and activation.</strong> J. Clin. Invest. 86: 681-687, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2168441/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2168441</a>] [<a href="https://doi.org/10.1172/JCI114763" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2168441">D'Andrea and Zon (1990)</a> provided a review of the erythropoietin receptor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2168441" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#22" class="mim-tip-reference" title="Noguchi, C. T., Bae, K. S., Chin, K., Wada, Y., Schechter, A. N., Hankins, W. D. <strong>Cloning of the human erythropoietin receptor gene.</strong> Blood 78: 2548-2556, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1668606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1668606</a>]" pmid="1668606">Noguchi et al. (1991)</a> isolated and characterized a genomic clone of human EPOR from a placenta genomic library using a cDNA probe for the murine gene. The coding region spans about 6.5 kb with 7 introns ranging in size from 81 bp to 2.1 kb. <a href="#20" class="mim-tip-reference" title="Maouche, L., Tournamille, C., Hattab, C., Boffa, G., Cartron, J.-P., Chretien, S. <strong>Cloning of the gene encoding the human erythropoietin receptor.</strong> Blood 78: 2557-2563, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1668607/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1668607</a>]" pmid="1668607">Maouche et al. (1991)</a> obtained similar results. A high degree of sequence homology (81.6% in the coding region) and similarity in structural organization was found with the murine counterpart. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1668606+1668607" 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="Penny, L. A., Forget, B. G. <strong>Genomic organization of the human erythropoietin receptor gene.</strong> Genomics 11: 974-980, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1664413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1664413</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90022-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1664413">Penny and Forget (1991)</a> reported that the coding region of the EPOR gene is contained within 8 exons spanning approximately 6 kb. It has much structural and sequence similarity to the murine gene, which was used in isolating the human genomic clone. Its organization was also shown to be homologous to that of the IL2RB gene (<a href="/entry/146710">146710</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1664413" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Budarf, M., Huebner, K., Emanuel, B., Croce, C. M., Copeland, N. G., Jenkins, N. A., D'Andrea, A. D. <strong>Assignment of the erythropoietin receptor (EPOR) gene to mouse chromosome 9 and human chromosome 19.</strong> Genomics 8: 575-578, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1962754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1962754</a>] [<a href="https://doi.org/10.1016/0888-7543(90)90047-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1962754">Budarf et al. (1990)</a> mapped the EPOR gene to human 19pter-q12 by somatic cell hybrid analysis. In the mouse, they showed by interspecific backcross mapping that the locus is tightly linked to the murine Ldlr locus near the centromere of chromosome 9. This region of mouse chromosome 9 is homologous to human 19p13, strongly suggesting that the human EPOR gene is in 19p13. <a href="#30" class="mim-tip-reference" title="Winkelmann, J. C., Penny, L. A., Deaven, L. L., Forget, B. G., Jenkins, R. B. <strong>The gene for the human erythropoietin receptor: analysis of the coding sequence and assignment to chromosome 19p.</strong> Blood 76: 24-30, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2163695/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2163695</a>]" pmid="2163695">Winkelmann et al. (1990)</a> found 2 distinct, short stretches of 3-prime untranslated sequence homology between human and murine cDNAs. They localized the human gene to 19p13.3-p13.2 by in situ hybridization and confirmed the assignment by hybridization to a panel of sorted human chromosomes. Using a highly informative (polymorphism information element, PIC, = 0.86) simple sequence repeat polymorphism at the 5-prime end of the EPOR gene, <a href="#26" class="mim-tip-reference" title="Sistonen, P., Traskelin, A.-L., Lehvaslaiho, H., de la Chapelle, A. <strong>Genetic mapping of the erythropoietin receptor gene.</strong> Hum. Genet. 92: 299-301, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8406437/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8406437</a>] [<a href="https://doi.org/10.1007/BF00244476" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8406437">Sistonen et al. (1993)</a> placed the EPOR gene on the genetic map of 19p through studies of 12 CEPH families. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2163695+8406437+1962754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Akashi, K., Traver, D., Miyamoto, T., Weissman, I. L. <strong>A clonogenic common myeloid progenitor that gives rise to all myeloid lineages.</strong> Nature 404: 193-197, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10724173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10724173</a>] [<a href="https://doi.org/10.1038/35004599" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10724173">Akashi et al. (2000)</a> reported the prospective identification, purification, and characterization, using cell surface markers and flow cytometry, of a complementary clonogenic common myeloid progenitor that gives rise to all myeloid lineages. The distinction between the common lymphoid progenitor and common myeloid progenitor is that the common lymphoid progenitor expresses IL7 receptor (<a href="/entry/146661">146661</a>) and does not express MPL (<a href="/entry/159530">159530</a>), whereas the common myeloid progenitor does not express the IL7 receptor and expresses MPL. Further differentiation of the common myeloid progenitor into the granulocyte/monocyte progenitor versus the megakaryocyte/erythrocyte progenitor is dependent upon the expression of the EPOR. The myeloid/erythroid progenitor expresses the EPOR, whereas the granulocyte/monocyte progenitor does not. <a href="#1" class="mim-tip-reference" title="Akashi, K., Traver, D., Miyamoto, T., Weissman, I. L. <strong>A clonogenic common myeloid progenitor that gives rise to all myeloid lineages.</strong> Nature 404: 193-197, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10724173/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10724173</a>] [<a href="https://doi.org/10.1038/35004599" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10724173">Akashi et al. (2000)</a> proposed that the common lymphoid progenitor and common myeloid progenitor populations reflect the earliest branch points between the lymphoid and myeloid lineages, and that the commitment of common myeloid progenitors to either the megakaryocyte/erythrocyte or the granulocyte/macrophage lineages are mutually exclusive events. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10724173" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Becker, V., Schilling, M., Bachmann, J., Baumann, U., Raue, A., Maiwald, T., Timmer, J., Klingmuller, U. <strong>Covering a broad dynamic range: information processing at the erythropoietin receptor.</strong> Science 328: 1404-1408, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20488988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20488988</a>] [<a href="https://doi.org/10.1126/science.1184913" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20488988">Becker et al. (2010)</a> showed by mathematical modeling of quantitative data and experimental validation that rapid ligand depletion and replenishment of the cell surface receptor are characteristic features of the EPO receptor. The amount of EPO-EPOR complexes and EPOR activation integrated over time corresponds linearly to ligand input; this process is carried out over a broad range of ligand concentrations. This relation depends solely on EPOR turnover independent of ligand binding, which suggests an essential role of large intracellular receptor pools. <a href="#3" class="mim-tip-reference" title="Becker, V., Schilling, M., Bachmann, J., Baumann, U., Raue, A., Maiwald, T., Timmer, J., Klingmuller, U. <strong>Covering a broad dynamic range: information processing at the erythropoietin receptor.</strong> Science 328: 1404-1408, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20488988/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20488988</a>] [<a href="https://doi.org/10.1126/science.1184913" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20488988">Becker et al. (2010)</a> concluded that these receptor properties enable the system to cope with basal and acute demand in the hematopoietic system. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20488988" 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="#15" class="mim-tip-reference" title="Khalil, S., Delehanty, L., Grado, S., Holy, M., White, Z., III, Freeman, K., Kurita, R., Nakamura, Y., Bullock, G., Goldfarb, A. <strong>Iron modulation of erythropoiesis is associated with Scribble-mediated control of the erythropoietin receptor.</strong> J. Exp. Med. 215: 661-679, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29282252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29282252</a>] [<a href="https://doi.org/10.1084/jem.20170396" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29282252">Khalil et al. (2018)</a> identified surface modulation of EPOR as a critical component of the erythroid iron deprivation response. Iron deprivation significantly decreased surface EPOR levels and affected capacity for downstream signaling in human cells, and knockin mice with enforced surface retention of Epor failed to develop anemia with iron deprivation. Further investigation identified SCRIB (<a href="/entry/607733">607733</a>) as an iron response factor regulated by the erythroid iron-deprivation response that influenced surface EPOR display. Immunofluorescence analysis of iron-replete erythroblasts revealed that SCRIB was concentrated at the cell periphery, but it also distributed throughout the cytoplasm in a vesicular pattern. Erythroid iron deprivation caused downregulation of SCRIB through mediation of cathepsin (see <a href="/entry/613111">613111</a>) and the iron-sensing transferrin receptor-2 (TFR2; <a href="/entry/604720">604720</a>). SCRIB deficiency in turn reduced surface expression of EPOR but selectively retained survival signaling via AKT (<a href="/entry/164730">164730</a>), thereby providing a means for integration of iron sensing with receptor function to permit modulation of progenitor expansion without compromising survival. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29282252" 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 all 29 affected members of a large Finnish family with autosomal dominant erythrocytosis-1 (ECYT1; <a href="/entry/133100">133100</a>) due to increased sensitivity to erythropoietin (<a href="#14" class="mim-tip-reference" title="Juvonen, E., Ikkala, E., Fyhrquist, F., Ruutu, T. <strong>Autosomal dominant erythrocytosis caused by increased sensitivity to erythropoietin.</strong> Blood 78: 3066-3069, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1954391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1954391</a>]" pmid="1954391">Juvonen et al., 1991</a>), <a href="#8" class="mim-tip-reference" title="de la Chapelle, A., Traskelin, A.-L., Juvonen, E. <strong>Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis.</strong> Proc. Nat. Acad. Sci. 90: 4495-4499, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8506290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8506290</a>] [<a href="https://doi.org/10.1073/pnas.90.10.4495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8506290">de la Chapelle et al. (1993)</a> identified a heterozygous mutation in the EPOR gene (<a href="#0001">133171.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1954391+8506290" 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 2 unrelated families with autosomal dominant erythrocytosis, <a href="#16" class="mim-tip-reference" title="Kralovics, R., Indrak, K., Stopka, T., Berman, B. W., Prchal, J. F., Prchal, J. T. <strong>Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycythemias.</strong> Blood 90: 2057-2061, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9292543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9292543</a>]" pmid="9292543">Kralovics et al. (1997)</a> identified 2 different heterozygous mutations in the EPOR gene (<a href="#0004">133171.0004</a>; <a href="#0005">133171.0005</a>). The authors noted that most of the described EPOR mutations (6 of 8) associated with ECYT1 resulted in an absence of the C-terminal negative regulatory domain of the receptor. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9292543" 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>Associations Pending Confirmation</em></strong></p><p>
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<a href="#28" class="mim-tip-reference" title="Ward, J. C., Harris, K. W., Penny, L. A., Forget, B. G., Kitamura, T., Winkelmann, J. C. <strong>A structurally abnormal erythropoietin receptor gene in a human erythroleukemia cell line.</strong> Exp. Hemat. 20: 371-373, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1314735/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1314735</a>]" pmid="1314735">Ward et al. (1992)</a> performed restriction endonuclease mapping of the EPOR gene in a human erythroleukemia (see <a href="/entry/133180">133180</a>) cell line that overexpressed the EPOR gene and proliferated in response to erythropoietin. They demonstrated a 3-prime end deletion of one EPOR gene and raised the possibility of the role of the abnormality in the pathogenesis of the erythroleukemia from which the cell line was derived. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1314735" 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>Exclusion Studies</em></strong></p><p>
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<a href="#12" class="mim-tip-reference" title="Hess, G., Rose, P., Gamm, H., Papadileris, S., Huber, C., Seliger, B. <strong>Molecular analysis of the erythropoietin receptor system in patients with polycythaemia vera.</strong> Brit. J. Haemat. 88: 794-802, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7819104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7819104</a>] [<a href="https://doi.org/10.1111/j.1365-2141.1994.tb05119.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7819104">Hess et al. (1994)</a> found no evidence of mutations in the EPOR gene among 24 patients with polycythemia vera (PV; <a href="/entry/263300">263300</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7819104" 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 the mouse, <a href="#19" class="mim-tip-reference" title="Longmore, G. D., Lodish, H. F. <strong>An activating mutation in the murine erythropoietin receptor induces erythroleukemia in mice: a cytokine receptor superfamily oncogene.</strong> Cell 67: 1089-1102, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1662116/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1662116</a>] [<a href="https://doi.org/10.1016/0092-8674(91)90286-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1662116">Longmore and Lodish (1991)</a> showed that a point mutation at codon 129 of the Epor gene resulted in constitutive activation. The mice developed erythrocytosis and splenomegaly. From the spleen of these animals, the authors isolated clonal, growth factor-independent, proerythroblast cell lines that expressed Epor and had rearranged and inactivated expression of the p53 suppressor oncogene. The observations demonstrated that oncogenic point mutations occur in a member of the cytokine receptor superfamily. The activated Epor did not transform cultured fibroblasts, however, suggesting why oncogenic mutations in other members of this receptor superfamily had not been detected. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1662116" 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>Mutagenesis and transfection experiments have shown that truncation of the cytoplasmic domain of the erythropoietin receptor in mice can cause increased activity (<a href="#5" class="mim-tip-reference" title="D'Andrea, A. D., Yoshimura, A., Youssoufian, H., Zon, L. I., Koo, J.-W., Lodish, H. F. <strong>The cytoplasmic region of the erythropoietin receptor contains nonoverlapping positive and negative growth-regulatory domains.</strong> Molec. Cell. Biol. 11: 1980-1987, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1848667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1848667</a>] [<a href="https://doi.org/10.1128/mcb.11.4.1980-1987.1991" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1848667">D'Andrea et al., 1991</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1848667" 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="#10" class="mim-tip-reference" title="Divoky, V., Liu, Z., Ryan, T. M., Prchal, J. F., Townes, T. M., Prchal, J. T. <strong>Mouse model of congenital polycythemia: homologous replacement of murine gene by mutant human erythropoietin receptor gene.</strong> Proc. Nat. Acad. Sci. 98: 986-991, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11158582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11158582</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11158582[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.98.3.986" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11158582">Divoky et al. (2001)</a> replaced the murine Epor gene with a wildtype human EPOR gene and a mutant human EPOR gene (Y426X; <a href="#0006">133171.0006</a>) that had initially been identified in a patient with familial erythrocytosis. Mice heterozygous for the mutant human allele mimicked the human disorder. Mice that were homozygous for the mutant human allele were severely polycythemic but viable. The results provided a model for functional studies of EPOR-triggered signaling pathways in erythropoiesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11158582" 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 lacking Epor exhibit severe anemia and die at about embryonic day 13.5. <a href="#31" class="mim-tip-reference" title="Yu, X., Lin, C.-S., Costantini, F., Noguchi, C. T. <strong>The human erythropoietin receptor gene rescues erythropoiesis and developmental defects in the erythropoietin receptor null mouse.</strong> Blood 98: 475-477, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11435319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11435319</a>] [<a href="https://doi.org/10.1182/blood.v98.2.475" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11435319">Yu et al. (2001)</a> showed that this phenotype can be rescued by the human EPOR transgene. Furthermore, the cardiac defect associated with embryos lacking Epor was corrected and the increased apoptosis in fetal liver, heart, and brain in the Epor-null phenotype was markedly reduced. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11435319" 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=133171[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">rs121918116 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121918116;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=rs121918116" 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=rs121918116" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p>In all 29 affected members of a large Scandinavian kindred with familial erythrocytosis-1 (ECYT1; <a href="/entry/133100">133100</a>) reported by <a href="#14" class="mim-tip-reference" title="Juvonen, E., Ikkala, E., Fyhrquist, F., Ruutu, T. <strong>Autosomal dominant erythrocytosis caused by increased sensitivity to erythropoietin.</strong> Blood 78: 3066-3069, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1954391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1954391</a>]" pmid="1954391">Juvonen et al. (1991)</a>, <a href="#8" class="mim-tip-reference" title="de la Chapelle, A., Traskelin, A.-L., Juvonen, E. <strong>Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis.</strong> Proc. Nat. Acad. Sci. 90: 4495-4499, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8506290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8506290</a>] [<a href="https://doi.org/10.1073/pnas.90.10.4495" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8506290">de la Chapelle et al. (1993)</a> identified a heterozygous 6002G-A transition in exon 8 of the EPOR gene, resulting in a trp439-to-ter (W439X) substitution predicted to truncate the receptor by 70 amino acids at the C-terminal cytoplasmic domain. The phenotype was mild in all individuals; the proband won 3 Olympic gold medals in cross-country skiing. <a href="#9" class="mim-tip-reference" title="de la Chapelle. <strong>Personal Communication.</strong> Columbus, Ohio 12/4/2005."None>De la Chapelle (2005)</a> pointed out that the family he studied were Finnish and Swedish Laplanders. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1954391+8506290" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="Percy, M. J., McMullin, M. F., Roques, A. W. W., Westwood, N. B., Acharya, J., Hughes, A. E., Lappin, T. R. J., Pearson, T. C. <strong>Erythrocytosis due to a mutation in the erythropoietin receptor gene.</strong> Brit. J. Haemat. 100: 407-410, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9488636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9488636</a>] [<a href="https://doi.org/10.1046/j.1365-2141.1998.00550.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9488636">Percy et al. (1998)</a> found the W439X mutation as a de novo event in an English boy with erythrocytosis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9488636" 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">rs1555716045 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555716045;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=rs1555716045" 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=rs1555716045" 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=RCV000018066" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018066" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018066</a>
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<p>In affected members of a family with autosomal dominant familial erythrocytosis-1 (ECYT1; <a href="/entry/133100">133100</a>), <a href="#27" class="mim-tip-reference" title="Sokol, L., Luhovy, M., Guan, Y., Prchal, J. F., Semenza, G. L., Prchal, J. T. <strong>Primary familial polycythemia: a frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietin.</strong> Blood 86: 15-22, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7795221/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7795221</a>]" pmid="7795221">Sokol et al. (1995)</a> identified a heterozygous 1-bp insertion (5975insG) in the EPOR gene, resulting in truncation of the last 64 amino acids. Wildtype and mutant EPOR transcripts were detected in erythroid progenitors from affected individuals. The point in the family where the mutation originated could be identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7795221" 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> rs62638745 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs62638745;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/rs62638745?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=rs62638745" 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=rs62638745" 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=RCV000018068 OR RCV000893045 OR RCV003321483" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018068, RCV000893045, RCV003321483" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018068...</a>
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<p>This variant, formerly titled ERYTHROCYTOSIS, FAMILIAL, 1, has been reclassified based on a review of the ExAC database by <a href="#11" class="mim-tip-reference" title="Hamosh, A. <strong>Personal Communication.</strong> Baltimore, Md. 11/5/2018."None>Hamosh (2018)</a>.</p><p>In a patient with erythrocytosis (ECYT1; <a href="/entry/133100">133100</a>), <a href="#18" class="mim-tip-reference" title="Le Couedic, J.-P., Mitjavila, M.-T., Villeval, J.-L., Feger, F., Gobert, S., Mayeux, P., Casadevall, N., Vainchenker, W. <strong>Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies.</strong> Blood 87: 1502-1511, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8608241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8608241</a>]" pmid="8608241">Le Couedic et al. (1996)</a> identified a heterozygous 6146A-G transition in exon 8 of the EPOR gene, resulting in an asn487-to-ser (N487S) substitution. The N487S substitution was not found in 21 other patients with polycythemia of unknown origin or in 51 normal controls. The EPOR mutation in both cases was found in EBV-derived cell lines, suggesting that it was germline and not somatic, although no familial cases were found. Although functional expression studies were inconclusive, <a href="#18" class="mim-tip-reference" title="Le Couedic, J.-P., Mitjavila, M.-T., Villeval, J.-L., Feger, F., Gobert, S., Mayeux, P., Casadevall, N., Vainchenker, W. <strong>Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies.</strong> Blood 87: 1502-1511, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8608241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8608241</a>]" pmid="8608241">Le Couedic et al. (1996)</a> noted that the N487S substitution is located in the negative regulatory domain of the protein and speculated that this phosphopeptide sequence may play an important role in erythropoietin signaling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8608241" 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="Le Couedic, J.-P., Mitjavila, M.-T., Villeval, J.-L., Feger, F., Gobert, S., Mayeux, P., Casadevall, N., Vainchenker, W. <strong>Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies.</strong> Blood 87: 1502-1511, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8608241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8608241</a>]" pmid="8608241">Le Couedic et al. (1996)</a> also found this variant in 1 of 10 cases of erythroleukemia (see <a href="/entry/133180">133180</a>), but in that patient <a href="#21" class="mim-tip-reference" title="Mitjavila, M.-T., Le Couedic, J.-P., Casadevall, N., Navarro, S., Villeval, J.-L., Dubart, A., Vainchenker, W. <strong>Autocrine stimulation by erythropoietin and autonomous growth of human erythroid leukemic cells in vitro.</strong> J. Clin. Invest. 88: 789-797, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1653276/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1653276</a>] [<a href="https://doi.org/10.1172/JCI115378" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1653276">Mitjavila et al. (1991)</a> had previously shown that erythroid growth was due to autocrine stimulation by erythropoietin. Although the role of the N487S substitution in erythroleukemia was unclear, <a href="#18" class="mim-tip-reference" title="Le Couedic, J.-P., Mitjavila, M.-T., Villeval, J.-L., Feger, F., Gobert, S., Mayeux, P., Casadevall, N., Vainchenker, W. <strong>Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies.</strong> Blood 87: 1502-1511, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8608241/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8608241</a>]" pmid="8608241">Le Couedic et al. (1996)</a> noted that mutations in the Epor gene had been described in experimental erythroleukemia in mice. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8608241+1653276" 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="#11" class="mim-tip-reference" title="Hamosh, A. <strong>Personal Communication.</strong> Baltimore, Md. 11/5/2018."None>Hamosh (2018)</a> found that this variant was present in heterozygous state in 690 of 120,744 alleles and in 5 homozygotes, with an allele frequency of 0.005715, in the ExAC database (November 5, 2018).</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">rs1555716041 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555716041;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=rs1555716041" 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=rs1555716041" 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=RCV000018070" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018070" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018070</a>
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<p>In affected members of a family with dominantly inherited familial erythrocytosis (ECYT1; <a href="/entry/133100">133100</a>), <a href="#2" class="mim-tip-reference" title="Arcasoy, M. O., Degar, B. A., Harris, K. W., Forget, B. G. <strong>Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene.</strong> Blood 89: 4628-4635, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9192789/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9192789</a>]" pmid="9192789">Arcasoy et al. (1997)</a> identified a heterozygous 7-bp deletion (nucleotides 5985 to 5991) in exon 8 of the EPOR gene, resulting in an EPOR peptide that was truncated by 59 amino acids at its C terminus. A 7-bp direct repeat was present in the normal EPOR gene at the site of this mutation, consistent with the slipped mispairing model for the generation of short deletions during DNA replication. Hypersensitivity to erythropoietin of erythroid progenitors from an affected individual was observed in in vitro methylcellulose cultures, as indicated by more numerous and larger colonies compared with those of the control subject. The proband had been evaluated at 15 years of age because of persistent headaches. There was no hypertension or cardiovascular disease in the family. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9192789" 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="Kralovics, R., Indrak, K., Stopka, T., Berman, B. W., Prchal, J. F., Prchal, J. T. <strong>Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycythemias.</strong> Blood 90: 2057-2061, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9292543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9292543</a>]" pmid="9292543">Kralovics et al. (1997)</a> screened for mutations in the cytoplasmic domain of the EPO receptor (exons 7 and 8) in 27 unrelated subjects with primary or unidentified erythrocytosis. A Caucasian family from Ohio had the 7-bp deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9292543" 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">rs1555716047 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs1555716047;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=rs1555716047" 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=rs1555716047" 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=RCV000018067" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018067" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018067</a>
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<p>In affected members of a Caucasian family from the Czech Republic with autosomal dominant benign erythrocytosis (ECYT1; <a href="/entry/133100">133100</a>), <a href="#16" class="mim-tip-reference" title="Kralovics, R., Indrak, K., Stopka, T., Berman, B. W., Prchal, J. F., Prchal, J. T. <strong>Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycythemias.</strong> Blood 90: 2057-2061, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9292543/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9292543</a>]" pmid="9292543">Kralovics et al. (1997)</a> identified a 1-bp insertion (5967insT) in the EPOR gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9292543" 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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EPOR, TYR426TER
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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> rs121917831 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs121917831;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/rs121917831?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=rs121917831" 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=rs121917831" 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=RCV000018071" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000018071" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000018071</a>
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<p>In 3 affected members of a family with familial erythrocytosis (ECYT1; <a href="/entry/133100">133100</a>) originally reported by <a href="#25" class="mim-tip-reference" title="Prchal, J. T., Crist, W. M., Goldwasser, E., Perrine, G., Prchal, J. F. <strong>Autosomal dominant polycythemia.</strong> Blood 66: 1208-1214, 1985.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4052634/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4052634</a>]" pmid="4052634">Prchal et al. (1985)</a>, <a href="#17" class="mim-tip-reference" title="Kralovics, R., Sokol, L., Prchal, J. T. <strong>Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia.</strong> J. Clin. Invest. 102: 124-129, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9649565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9649565</a>] [<a href="https://doi.org/10.1172/JCI2886" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9649565">Kralovics et al. (1998)</a> identified a heterozygous 5964C-G transversion in exon 8 of the EPOR gene, resulting in a tyr426-to-ter (Y426X) substitution. The resultant mutant protein is truncated by 83 amino acids and lacks 7 C terminal tyrosine residues. The mutant receptor exhibited hypersensitive erythropoietin-dependent proliferation compared to the wildtype EPOR when tested in a murine interleukin-3-dependent myeloid cell line. <a href="#17" class="mim-tip-reference" title="Kralovics, R., Sokol, L., Prchal, J. T. <strong>Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia.</strong> J. Clin. Invest. 102: 124-129, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9649565/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9649565</a>] [<a href="https://doi.org/10.1172/JCI2886" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9649565">Kralovics et al. (1998)</a> examined the segregation of the mutation in the family and found that a child in the third generation inherited the mutation but had no laboratory evidence of erythrocytosis. Furthermore, in vitro analysis of the erythroid progenitor cells of this affected child revealed hypersensitivity to erythropoietin, suggesting a defect at the level of progenitor cells. Failure of this child to develop the disorder suggested the existence of as yet unidentified environmental or genetic factors that suppress disease development. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4052634+9649565" 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">rs2144694000 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs2144694000;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=rs2144694000" 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=rs2144694000" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<p><a href="#29" class="mim-tip-reference" title="Watowich, S. S., Xie, X., Klingmuller, U., Kere, J., Lindlof, M., Berglund, S., de la Chapelle, A. <strong>Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state.</strong> Blood 94: 2530-2532, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10498627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10498627</a>]" pmid="10498627">Watowich et al. (1999)</a> described a Swedish family with autosomal dominant familial erythrocytosis (ECYT1; <a href="/entry/133100">133100</a>) which segregated with a direct tandem duplication of nucleotides 5968 to 5975 of the EPOR gene. The duplication resulted in a frameshift beyond residue 405, introducing 25 amino acids not related to the EPOR, and a premature stop codon, deleting 79 residues at the C terminus of the receptor. Affected family members were plethoric and often had additional symptoms, including hypertension, headaches, dizziness, nosebleeds, and exertional dyspnea, which were most pronounced in the males. These symptoms were alleviated by phlebotomies, and phlebotomy treatment had been recommended. <a href="#29" class="mim-tip-reference" title="Watowich, S. S., Xie, X., Klingmuller, U., Kere, J., Lindlof, M., Berglund, S., de la Chapelle, A. <strong>Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state.</strong> Blood 94: 2530-2532, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10498627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10498627</a>]" pmid="10498627">Watowich et al. (1999)</a> found that cells engineered to concomitantly express the wildtype EPOR and duplication or 6002G-A (<a href="#0001">133171.0001</a>) mutant EPORs were hypersensitive to EPO-stimulated proliferation and activation of JAK2 (<a href="/entry/147796">147796</a>) and STAT5 (<a href="/entry/601511">601511</a>). These results demonstrated that familial erythrocytosis is caused by hyperresponsiveness of receptor-mediated signaling pathways and that this is dominant with respect to wildtype EPOR signaling. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10498627" 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="#de1993" class="mim-tip-reference" title="de la Chapelle, A., Traskelin, A.-L., Juvonen, E. <strong>Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis.</strong> Proc. Nat. Acad. Sci. 90: 4495-4499, 1993.">de la Chapelle et al. (1993)</a>
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[<a href="https://doi.org/10.1126/science.1184913" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1016/0888-7543(90)90047-x" target="_blank">Full Text</a>]
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D'Andrea, A. D., Yoshimura, A., Youssoufian, H., Zon, L. I., Koo, J.-W., Lodish, H. F.
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Molec. Cell. Biol. 11: 1980-1987, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1848667/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1848667</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1848667" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1128/mcb.11.4.1980-1987.1991" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1172/JCI114763" target="_blank">Full Text</a>]
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<a id="de la Chapelle1993" class="mim-anchor"></a>
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de la Chapelle, A., Sistonen, P., Lehvaslaiho, H., Ikkala, E., Juvonen, E.
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<strong>Familial erythrocytosis genetically linked to erythropoietin receptor gene.</strong>
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[<a href="https://doi.org/10.1016/0140-6736(93)92558-b" target="_blank">Full Text</a>]
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de la Chapelle, A., Traskelin, A.-L., Juvonen, E.
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<strong>Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis.</strong>
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Proc. Nat. Acad. Sci. 90: 4495-4499, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8506290/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8506290</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8506290" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.90.10.4495" target="_blank">Full Text</a>]
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de la Chapelle.
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<strong>Personal Communication.</strong>
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Columbus, Ohio 12/4/2005.
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Divoky, V., Liu, Z., Ryan, T. M., Prchal, J. F., Townes, T. M., Prchal, J. T.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11158582/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11158582</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=11158582[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11158582" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.98.3.986" target="_blank">Full Text</a>]
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Hamosh, A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 11/5/2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7819104/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7819104</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7819104" 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/10.1111/j.1365-2141.1994.tb05119.x" target="_blank">Full Text</a>]
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Jones, S. S., D'Andrea, A. D., Haines, L. L., Wong, G. G.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2163696/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2163696</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2163696" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Juvonen1991" class="mim-anchor"></a>
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Juvonen, E., Ikkala, E., Fyhrquist, F., Ruutu, T.
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<strong>Autosomal dominant erythrocytosis caused by increased sensitivity to erythropoietin.</strong>
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Blood 78: 3066-3069, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1954391/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1954391</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1954391" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Khalil, S., Delehanty, L., Grado, S., Holy, M., White, Z., III, Freeman, K., Kurita, R., Nakamura, Y., Bullock, G., Goldfarb, A.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29282252/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29282252</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29282252" 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/10.1084/jem.20170396" target="_blank">Full Text</a>]
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<div class="">
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<strong>Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycythemias.</strong>
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[<a href="https://doi.org/10.1172/JCI2886" target="_blank">Full Text</a>]
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<strong>Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies.</strong>
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<strong>An activating mutation in the murine erythropoietin receptor induces erythroleukemia in mice: a cytokine receptor superfamily oncogene.</strong>
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[<a href="https://doi.org/10.1016/0092-8674(91)90286-8" target="_blank">Full Text</a>]
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<strong>Cloning of the gene encoding the human erythropoietin receptor.</strong>
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<a id="Mitjavila1991" class="mim-anchor"></a>
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<div class="">
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[<a href="https://doi.org/10.1172/JCI115378" target="_blank">Full Text</a>]
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<a id="Noguchi1991" class="mim-anchor"></a>
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<div class="">
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<strong>Cloning of the human erythropoietin receptor gene.</strong>
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Blood 78: 2548-2556, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1668606/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1668606</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1668606" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="Penny1991" class="mim-anchor"></a>
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Penny, L. A., Forget, B. G.
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<strong>Genomic organization of the human erythropoietin receptor gene.</strong>
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Genomics 11: 974-980, 1991.
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[<a href="https://doi.org/10.1016/0888-7543(91)90022-7" target="_blank">Full Text</a>]
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<a id="Percy1998" class="mim-anchor"></a>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9488636/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9488636</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9488636" 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/10.1046/j.1365-2141.1998.00550.x" target="_blank">Full Text</a>]
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<a id="25" class="mim-anchor"></a>
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<a id="Prchal1985" class="mim-anchor"></a>
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Prchal, J. T., Crist, W. M., Goldwasser, E., Perrine, G., Prchal, J. F.
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<strong>Autosomal dominant polycythemia.</strong>
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Blood 66: 1208-1214, 1985.
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<a id="26" class="mim-anchor"></a>
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<a id="Sistonen1993" class="mim-anchor"></a>
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[<a href="https://doi.org/10.1007/BF00244476" target="_blank">Full Text</a>]
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<a id="Sokol1995" class="mim-anchor"></a>
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<div class="">
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<strong>Primary familial polycythemia: a frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietin.</strong>
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Blood 86: 15-22, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7795221/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7795221</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7795221" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="28" class="mim-anchor"></a>
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<a id="Ward1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Ward, J. C., Harris, K. W., Penny, L. A., Forget, B. G., Kitamura, T., Winkelmann, J. C.
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<strong>A structurally abnormal erythropoietin receptor gene in a human erythroleukemia cell line.</strong>
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<a id="29" class="mim-anchor"></a>
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<a id="Watowich1999" class="mim-anchor"></a>
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Watowich, S. S., Xie, X., Klingmuller, U., Kere, J., Lindlof, M., Berglund, S., de la Chapelle, A.
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<strong>Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state.</strong>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10498627/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10498627</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10498627" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<a id="30" class="mim-anchor"></a>
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<a id="Winkelmann1990" class="mim-anchor"></a>
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<div class="">
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Winkelmann, J. C., Penny, L. A., Deaven, L. L., Forget, B. G., Jenkins, R. B.
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<strong>The gene for the human erythropoietin receptor: analysis of the coding sequence and assignment to chromosome 19p.</strong>
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Blood 76: 24-30, 1990.
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<a id="31" class="mim-anchor"></a>
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<a id="Yu2001" class="mim-anchor"></a>
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<p class="mim-text-font">
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Yu, X., Lin, C.-S., Costantini, F., Noguchi, C. T.
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<strong>The human erythropoietin receptor gene rescues erythropoiesis and developmental defects in the erythropoietin receptor null mouse.</strong>
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Blood 98: 475-477, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11435319/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11435319</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11435319" 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/10.1182/blood.v98.2.475" target="_blank">Full Text</a>]
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</ol>
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<br />
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<a id="contributors" class="mim-anchor"></a>
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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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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 11/19/2018
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</span>
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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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Bao Lige - updated : 06/14/2018<br>Ada Hamosh - updated : 07/01/2010<br>Victor A. McKusick - updated : 12/13/2005<br>Victor A. McKusick - updated : 2/11/2002<br>Victor A. McKusick - updated : 11/6/2001<br>Victor A. McKusick - updated : 3/5/2001<br>Ada Hamosh - updated : 3/10/2000<br>Victor A. McKusick - updated : 7/20/1998<br>Victor A. McKusick - updated : 4/30/1998<br>Victor A. McKusick - updated : 1/21/1998<br>Victor A. McKusick - updated : 9/9/1997
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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Creation Date:
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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 : 9/8/1990
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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carol : 11/19/2018
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<div class="row collapse" id="mimCollapseEditHistory">
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alopez : 11/09/2018<br>ckniffin : 10/30/2018<br>carol : 06/15/2018<br>mgross : 06/14/2018<br>mgross : 06/14/2018<br>alopez : 07/01/2010<br>carol : 5/24/2006<br>carol : 5/24/2006<br>ckniffin : 5/23/2006<br>alopez : 1/6/2006<br>terry : 12/13/2005<br>carol : 2/21/2002<br>carol : 2/21/2002<br>terry : 2/11/2002<br>alopez : 11/12/2001<br>terry : 11/6/2001<br>carol : 4/3/2001<br>mcapotos : 3/12/2001<br>mcapotos : 3/7/2001<br>terry : 3/5/2001<br>alopez : 3/10/2000<br>alopez : 7/22/1998<br>terry : 7/20/1998<br>terry : 7/20/1998<br>carol : 5/4/1998<br>terry : 4/30/1998<br>mark : 1/25/1998<br>terry : 1/21/1998<br>terry : 9/10/1997<br>terry : 9/9/1997<br>joanna : 8/22/1997<br>mark : 6/14/1997<br>mark : 9/10/1996<br>mark : 3/31/1996<br>terry : 3/21/1996<br>mark : 9/17/1995<br>carol : 1/30/1995<br>terry : 7/5/1994<br>carol : 12/15/1993<br>carol : 7/13/1993<br>carol : 6/10/1993
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<h3>
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<span class="mim-font">
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<strong>*</strong> 133171
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</h3>
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<h3>
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<span class="mim-font">
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ERYTHROPOIETIN RECEPTOR; EPOR
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<br />
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: EPOR</em></strong>
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<p>
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<strong>
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<em>
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Cytogenetic location: 19p13.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 19:11,377,207-11,384,314 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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Inheritance
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<th>
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Phenotype <br /> mapping key
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<tbody>
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<td rowspan="1">
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<span class="mim-font">
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19p13.2
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<td>
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<span class="mim-font">
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[Erythrocytosis, familial, 1]
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</td>
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<td>
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<span class="mim-font">
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133100
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<td>
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<span class="mim-font">
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Autosomal dominant
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</td>
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<td>
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<span class="mim-font">
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3
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</table>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<h4>
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<strong>Cloning and Expression</strong>
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</h4>
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<span class="mim-text-font">
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<p>Jones et al. (1990) isolated the human homolog of the murine erythropoietin (EPO; 133170) receptor (EPOR) from an erythroleukemia cell line and from fetal liver. Both the cDNA and the protein sequence of the human receptor were 82% homologous to the murine receptor. Heterologous expression of the human cDNA in COS cells yielded a 508-amino acid protein with a molecular mass of approximately 66 kD. </p><p>D'Andrea and Zon (1990) provided a review of the erythropoietin receptor. </p>
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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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<span class="mim-text-font">
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<p>Noguchi et al. (1991) isolated and characterized a genomic clone of human EPOR from a placenta genomic library using a cDNA probe for the murine gene. The coding region spans about 6.5 kb with 7 introns ranging in size from 81 bp to 2.1 kb. Maouche et al. (1991) obtained similar results. A high degree of sequence homology (81.6% in the coding region) and similarity in structural organization was found with the murine counterpart. </p><p>Penny and Forget (1991) reported that the coding region of the EPOR gene is contained within 8 exons spanning approximately 6 kb. It has much structural and sequence similarity to the murine gene, which was used in isolating the human genomic clone. Its organization was also shown to be homologous to that of the IL2RB gene (146710). </p>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Budarf et al. (1990) mapped the EPOR gene to human 19pter-q12 by somatic cell hybrid analysis. In the mouse, they showed by interspecific backcross mapping that the locus is tightly linked to the murine Ldlr locus near the centromere of chromosome 9. This region of mouse chromosome 9 is homologous to human 19p13, strongly suggesting that the human EPOR gene is in 19p13. Winkelmann et al. (1990) found 2 distinct, short stretches of 3-prime untranslated sequence homology between human and murine cDNAs. They localized the human gene to 19p13.3-p13.2 by in situ hybridization and confirmed the assignment by hybridization to a panel of sorted human chromosomes. Using a highly informative (polymorphism information element, PIC, = 0.86) simple sequence repeat polymorphism at the 5-prime end of the EPOR gene, Sistonen et al. (1993) placed the EPOR gene on the genetic map of 19p through studies of 12 CEPH families. </p>
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</span>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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<p>Akashi et al. (2000) reported the prospective identification, purification, and characterization, using cell surface markers and flow cytometry, of a complementary clonogenic common myeloid progenitor that gives rise to all myeloid lineages. The distinction between the common lymphoid progenitor and common myeloid progenitor is that the common lymphoid progenitor expresses IL7 receptor (146661) and does not express MPL (159530), whereas the common myeloid progenitor does not express the IL7 receptor and expresses MPL. Further differentiation of the common myeloid progenitor into the granulocyte/monocyte progenitor versus the megakaryocyte/erythrocyte progenitor is dependent upon the expression of the EPOR. The myeloid/erythroid progenitor expresses the EPOR, whereas the granulocyte/monocyte progenitor does not. Akashi et al. (2000) proposed that the common lymphoid progenitor and common myeloid progenitor populations reflect the earliest branch points between the lymphoid and myeloid lineages, and that the commitment of common myeloid progenitors to either the megakaryocyte/erythrocyte or the granulocyte/macrophage lineages are mutually exclusive events. </p><p>Becker et al. (2010) showed by mathematical modeling of quantitative data and experimental validation that rapid ligand depletion and replenishment of the cell surface receptor are characteristic features of the EPO receptor. The amount of EPO-EPOR complexes and EPOR activation integrated over time corresponds linearly to ligand input; this process is carried out over a broad range of ligand concentrations. This relation depends solely on EPOR turnover independent of ligand binding, which suggests an essential role of large intracellular receptor pools. Becker et al. (2010) concluded that these receptor properties enable the system to cope with basal and acute demand in the hematopoietic system. </p><p>Khalil et al. (2018) identified surface modulation of EPOR as a critical component of the erythroid iron deprivation response. Iron deprivation significantly decreased surface EPOR levels and affected capacity for downstream signaling in human cells, and knockin mice with enforced surface retention of Epor failed to develop anemia with iron deprivation. Further investigation identified SCRIB (607733) as an iron response factor regulated by the erythroid iron-deprivation response that influenced surface EPOR display. Immunofluorescence analysis of iron-replete erythroblasts revealed that SCRIB was concentrated at the cell periphery, but it also distributed throughout the cytoplasm in a vesicular pattern. Erythroid iron deprivation caused downregulation of SCRIB through mediation of cathepsin (see 613111) and the iron-sensing transferrin receptor-2 (TFR2; 604720). SCRIB deficiency in turn reduced surface expression of EPOR but selectively retained survival signaling via AKT (164730), thereby providing a means for integration of iron sensing with receptor function to permit modulation of progenitor expansion without compromising survival. </p>
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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>Erythrocytosis 1</em></strong></p><p>
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In all 29 affected members of a large Finnish family with autosomal dominant erythrocytosis-1 (ECYT1; 133100) due to increased sensitivity to erythropoietin (Juvonen et al., 1991), de la Chapelle et al. (1993) identified a heterozygous mutation in the EPOR gene (133171.0001). </p><p>In 2 unrelated families with autosomal dominant erythrocytosis, Kralovics et al. (1997) identified 2 different heterozygous mutations in the EPOR gene (133171.0004; 133171.0005). The authors noted that most of the described EPOR mutations (6 of 8) associated with ECYT1 resulted in an absence of the C-terminal negative regulatory domain of the receptor. </p><p><strong><em>Associations Pending Confirmation</em></strong></p><p>
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Ward et al. (1992) performed restriction endonuclease mapping of the EPOR gene in a human erythroleukemia (see 133180) cell line that overexpressed the EPOR gene and proliferated in response to erythropoietin. They demonstrated a 3-prime end deletion of one EPOR gene and raised the possibility of the role of the abnormality in the pathogenesis of the erythroleukemia from which the cell line was derived. </p><p><strong><em>Exclusion Studies</em></strong></p><p>
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Hess et al. (1994) found no evidence of mutations in the EPOR gene among 24 patients with polycythemia vera (PV; 263300). </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In the mouse, Longmore and Lodish (1991) showed that a point mutation at codon 129 of the Epor gene resulted in constitutive activation. The mice developed erythrocytosis and splenomegaly. From the spleen of these animals, the authors isolated clonal, growth factor-independent, proerythroblast cell lines that expressed Epor and had rearranged and inactivated expression of the p53 suppressor oncogene. The observations demonstrated that oncogenic point mutations occur in a member of the cytokine receptor superfamily. The activated Epor did not transform cultured fibroblasts, however, suggesting why oncogenic mutations in other members of this receptor superfamily had not been detected. </p><p>Mutagenesis and transfection experiments have shown that truncation of the cytoplasmic domain of the erythropoietin receptor in mice can cause increased activity (D'Andrea et al., 1991). </p><p>Divoky et al. (2001) replaced the murine Epor gene with a wildtype human EPOR gene and a mutant human EPOR gene (Y426X; 133171.0006) that had initially been identified in a patient with familial erythrocytosis. Mice heterozygous for the mutant human allele mimicked the human disorder. Mice that were homozygous for the mutant human allele were severely polycythemic but viable. The results provided a model for functional studies of EPOR-triggered signaling pathways in erythropoiesis. </p><p>Mice lacking Epor exhibit severe anemia and die at about embryonic day 13.5. Yu et al. (2001) showed that this phenotype can be rescued by the human EPOR transgene. Furthermore, the cardiac defect associated with embryos lacking Epor was corrected and the increased apoptosis in fetal liver, heart, and brain in the Epor-null phenotype was markedly reduced. </p>
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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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<h4>
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<span class="mim-font">
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<strong>.0001 ERYTHROCYTOSIS, FAMILIAL, 1</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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EPOR, TRP439TER
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<br />
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SNP: rs121918116,
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ClinVar: RCV000018065
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<span class="mim-text-font">
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<p>In all 29 affected members of a large Scandinavian kindred with familial erythrocytosis-1 (ECYT1; 133100) reported by Juvonen et al. (1991), de la Chapelle et al. (1993) identified a heterozygous 6002G-A transition in exon 8 of the EPOR gene, resulting in a trp439-to-ter (W439X) substitution predicted to truncate the receptor by 70 amino acids at the C-terminal cytoplasmic domain. The phenotype was mild in all individuals; the proband won 3 Olympic gold medals in cross-country skiing. De la Chapelle (2005) pointed out that the family he studied were Finnish and Swedish Laplanders. </p><p>Percy et al. (1998) found the W439X mutation as a de novo event in an English boy with erythrocytosis. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 ERYTHROCYTOSIS, FAMILIAL, 1</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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EPOR, 1-BP INS, 5975G
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<br />
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SNP: rs1555716045,
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ClinVar: RCV000018066
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<span class="mim-text-font">
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<p>In affected members of a family with autosomal dominant familial erythrocytosis-1 (ECYT1; 133100), Sokol et al. (1995) identified a heterozygous 1-bp insertion (5975insG) in the EPOR gene, resulting in truncation of the last 64 amino acids. Wildtype and mutant EPOR transcripts were detected in erythroid progenitors from affected individuals. The point in the family where the mutation originated could be identified. </p>
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</span>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 RECLASSIFIED - VARIANT OF UNKNOWN SIGNIFICANCE</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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EPOR, ASN487SER
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<br />
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SNP: rs62638745,
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gnomAD: rs62638745,
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ClinVar: RCV000018068, RCV000893045, RCV003321483
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<div>
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<span class="mim-text-font">
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<p>This variant, formerly titled ERYTHROCYTOSIS, FAMILIAL, 1, has been reclassified based on a review of the ExAC database by Hamosh (2018).</p><p>In a patient with erythrocytosis (ECYT1; 133100), Le Couedic et al. (1996) identified a heterozygous 6146A-G transition in exon 8 of the EPOR gene, resulting in an asn487-to-ser (N487S) substitution. The N487S substitution was not found in 21 other patients with polycythemia of unknown origin or in 51 normal controls. The EPOR mutation in both cases was found in EBV-derived cell lines, suggesting that it was germline and not somatic, although no familial cases were found. Although functional expression studies were inconclusive, Le Couedic et al. (1996) noted that the N487S substitution is located in the negative regulatory domain of the protein and speculated that this phosphopeptide sequence may play an important role in erythropoietin signaling. </p><p>Le Couedic et al. (1996) also found this variant in 1 of 10 cases of erythroleukemia (see 133180), but in that patient Mitjavila et al. (1991) had previously shown that erythroid growth was due to autocrine stimulation by erythropoietin. Although the role of the N487S substitution in erythroleukemia was unclear, Le Couedic et al. (1996) noted that mutations in the Epor gene had been described in experimental erythroleukemia in mice. </p><p>Hamosh (2018) found that this variant was present in heterozygous state in 690 of 120,744 alleles and in 5 homozygotes, with an allele frequency of 0.005715, in the ExAC database (November 5, 2018).</p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 ERYTHROCYTOSIS, FAMILIAL, 1</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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EPOR, 7-BP DEL, NT5980
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<br />
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SNP: rs1555716041,
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ClinVar: RCV000018070
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In affected members of a family with dominantly inherited familial erythrocytosis (ECYT1; 133100), Arcasoy et al. (1997) identified a heterozygous 7-bp deletion (nucleotides 5985 to 5991) in exon 8 of the EPOR gene, resulting in an EPOR peptide that was truncated by 59 amino acids at its C terminus. A 7-bp direct repeat was present in the normal EPOR gene at the site of this mutation, consistent with the slipped mispairing model for the generation of short deletions during DNA replication. Hypersensitivity to erythropoietin of erythroid progenitors from an affected individual was observed in in vitro methylcellulose cultures, as indicated by more numerous and larger colonies compared with those of the control subject. The proband had been evaluated at 15 years of age because of persistent headaches. There was no hypertension or cardiovascular disease in the family. </p><p>Kralovics et al. (1997) screened for mutations in the cytoplasmic domain of the EPO receptor (exons 7 and 8) in 27 unrelated subjects with primary or unidentified erythrocytosis. A Caucasian family from Ohio had the 7-bp deletion. </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 ERYTHROCYTOSIS, FAMILIAL, 1</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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EPOR, 1-BP INS, 5967T
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<br />
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SNP: rs1555716047,
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ClinVar: RCV000018067
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
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<p>In affected members of a Caucasian family from the Czech Republic with autosomal dominant benign erythrocytosis (ECYT1; 133100), Kralovics et al. (1997) identified a 1-bp insertion (5967insT) in the EPOR 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">
|
|
<strong>.0006 ERYTHROCYTOSIS, FAMILIAL, 1</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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EPOR, TYR426TER
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<br />
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SNP: rs121917831,
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|
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gnomAD: rs121917831,
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ClinVar: RCV000018071
|
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 3 affected members of a family with familial erythrocytosis (ECYT1; 133100) originally reported by Prchal et al. (1985), Kralovics et al. (1998) identified a heterozygous 5964C-G transversion in exon 8 of the EPOR gene, resulting in a tyr426-to-ter (Y426X) substitution. The resultant mutant protein is truncated by 83 amino acids and lacks 7 C terminal tyrosine residues. The mutant receptor exhibited hypersensitive erythropoietin-dependent proliferation compared to the wildtype EPOR when tested in a murine interleukin-3-dependent myeloid cell line. Kralovics et al. (1998) examined the segregation of the mutation in the family and found that a child in the third generation inherited the mutation but had no laboratory evidence of erythrocytosis. Furthermore, in vitro analysis of the erythroid progenitor cells of this affected child revealed hypersensitivity to erythropoietin, suggesting a defect at the level of progenitor cells. Failure of this child to develop the disorder suggested the existence of as yet unidentified environmental or genetic factors that suppress disease development. </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>
|
|
<span class="mim-font">
|
|
<strong>.0007 ERYTHROCYTOSIS, FAMILIAL, 1</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
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<div>
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<span class="mim-text-font">
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EPOR, 5968_5975DUP
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<br />
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SNP: rs2144694000,
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ClinVar: RCV000018072
|
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|
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|
|
</span>
|
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>Watowich et al. (1999) described a Swedish family with autosomal dominant familial erythrocytosis (ECYT1; 133100) which segregated with a direct tandem duplication of nucleotides 5968 to 5975 of the EPOR gene. The duplication resulted in a frameshift beyond residue 405, introducing 25 amino acids not related to the EPOR, and a premature stop codon, deleting 79 residues at the C terminus of the receptor. Affected family members were plethoric and often had additional symptoms, including hypertension, headaches, dizziness, nosebleeds, and exertional dyspnea, which were most pronounced in the males. These symptoms were alleviated by phlebotomies, and phlebotomy treatment had been recommended. Watowich et al. (1999) found that cells engineered to concomitantly express the wildtype EPOR and duplication or 6002G-A (133171.0001) mutant EPORs were hypersensitive to EPO-stimulated proliferation and activation of JAK2 (147796) and STAT5 (601511). These results demonstrated that familial erythrocytosis is caused by hyperresponsiveness of receptor-mediated signaling pathways and that this is dominant with respect to wildtype EPOR signaling. </p>
|
|
</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
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|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
de la Chapelle et al. (1993)
|
|
</span>
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<div>
|
|
<br />
|
|
</div>
|
|
</div>
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
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<p />
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|
</div>
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<div>
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<ol>
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Akashi, K., Traver, D., Miyamoto, T., Weissman, I. L.
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<strong>A clonogenic common myeloid progenitor that gives rise to all myeloid lineages.</strong>
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Arcasoy, M. O., Degar, B. A., Harris, K. W., Forget, B. G.
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<strong>Familial erythrocytosis associated with a short deletion in the erythropoietin receptor gene.</strong>
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Blood 89: 4628-4635, 1997.
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<strong>Assignment of the erythropoietin receptor (EPOR) gene to mouse chromosome 9 and human chromosome 19.</strong>
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Genomics 8: 575-578, 1990.
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D'Andrea, A. D., Yoshimura, A., Youssoufian, H., Zon, L. I., Koo, J.-W., Lodish, H. F.
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<strong>The cytoplasmic region of the erythropoietin receptor contains nonoverlapping positive and negative growth-regulatory domains.</strong>
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Molec. Cell. Biol. 11: 1980-1987, 1991.
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[PubMed: 1848667]
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[Full Text: https://doi.org/10.1128/mcb.11.4.1980-1987.1991]
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D'Andrea, A. D., Zon, L. I.
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<strong>Erythropoietin receptor: subunit structure and activation.</strong>
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de la Chapelle, A., Sistonen, P., Lehvaslaiho, H., Ikkala, E., Juvonen, E.
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<strong>Familial erythrocytosis genetically linked to erythropoietin receptor gene.</strong>
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Lancet 341: 82-84, 1993.
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[PubMed: 8093406]
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[Full Text: https://doi.org/10.1016/0140-6736(93)92558-b]
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de la Chapelle, A., Traskelin, A.-L., Juvonen, E.
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<strong>Truncated erythropoietin receptor causes dominantly inherited benign human erythrocytosis.</strong>
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Proc. Nat. Acad. Sci. 90: 4495-4499, 1993.
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[PubMed: 8506290]
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[Full Text: https://doi.org/10.1073/pnas.90.10.4495]
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</p>
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<p class="mim-text-font">
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de la Chapelle.
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<strong>Personal Communication.</strong>
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Columbus, Ohio 12/4/2005.
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Divoky, V., Liu, Z., Ryan, T. M., Prchal, J. F., Townes, T. M., Prchal, J. T.
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<strong>Mouse model of congenital polycythemia: homologous replacement of murine gene by mutant human erythropoietin receptor gene.</strong>
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Proc. Nat. Acad. Sci. 98: 986-991, 2001.
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[PubMed: 11158582]
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[Full Text: https://doi.org/10.1073/pnas.98.3.986]
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<p class="mim-text-font">
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Hamosh, A.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 11/5/2018.
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Hess, G., Rose, P., Gamm, H., Papadileris, S., Huber, C., Seliger, B.
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<strong>Molecular analysis of the erythropoietin receptor system in patients with polycythaemia vera.</strong>
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Brit. J. Haemat. 88: 794-802, 1994.
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[PubMed: 7819104]
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[Full Text: https://doi.org/10.1111/j.1365-2141.1994.tb05119.x]
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Jones, S. S., D'Andrea, A. D., Haines, L. L., Wong, G. G.
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<strong>Human erythropoietin receptor: cloning, expression, and biologic characterization.</strong>
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Blood 76: 31-35, 1990.
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[PubMed: 2163696]
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Juvonen, E., Ikkala, E., Fyhrquist, F., Ruutu, T.
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<strong>Autosomal dominant erythrocytosis caused by increased sensitivity to erythropoietin.</strong>
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Blood 78: 3066-3069, 1991.
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[PubMed: 1954391]
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Khalil, S., Delehanty, L., Grado, S., Holy, M., White, Z., III, Freeman, K., Kurita, R., Nakamura, Y., Bullock, G., Goldfarb, A.
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<strong>Iron modulation of erythropoiesis is associated with Scribble-mediated control of the erythropoietin receptor.</strong>
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J. Exp. Med. 215: 661-679, 2018.
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[PubMed: 29282252]
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<p class="mim-text-font">
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Kralovics, R., Indrak, K., Stopka, T., Berman, B. W., Prchal, J. F., Prchal, J. T.
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<strong>Two new EPO receptor mutations: truncated EPO receptors are most frequently associated with primary familial and congenital polycythemias.</strong>
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Blood 90: 2057-2061, 1997.
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[PubMed: 9292543]
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<p class="mim-text-font">
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Kralovics, R., Sokol, L., Prchal, J. T.
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<strong>Absence of polycythemia in a child with a unique erythropoietin receptor mutation in a family with autosomal dominant primary polycythemia.</strong>
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J. Clin. Invest. 102: 124-129, 1998.
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[PubMed: 9649565]
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<li>
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<p class="mim-text-font">
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Le Couedic, J.-P., Mitjavila, M.-T., Villeval, J.-L., Feger, F., Gobert, S., Mayeux, P., Casadevall, N., Vainchenker, W.
|
|
<strong>Missense mutation of the erythropoietin receptor is a rare event in human erythroid malignancies.</strong>
|
|
Blood 87: 1502-1511, 1996.
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[PubMed: 8608241]
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</p>
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<p class="mim-text-font">
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Longmore, G. D., Lodish, H. F.
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<strong>An activating mutation in the murine erythropoietin receptor induces erythroleukemia in mice: a cytokine receptor superfamily oncogene.</strong>
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Cell 67: 1089-1102, 1991.
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[PubMed: 1662116]
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[Full Text: https://doi.org/10.1016/0092-8674(91)90286-8]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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|
Maouche, L., Tournamille, C., Hattab, C., Boffa, G., Cartron, J.-P., Chretien, S.
|
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<strong>Cloning of the gene encoding the human erythropoietin receptor.</strong>
|
|
Blood 78: 2557-2563, 1991.
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|
|
|
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|
[PubMed: 1668607]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
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<li>
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|
<p class="mim-text-font">
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|
Mitjavila, M.-T., Le Couedic, J.-P., Casadevall, N., Navarro, S., Villeval, J.-L., Dubart, A., Vainchenker, W.
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|
<strong>Autocrine stimulation by erythropoietin and autonomous growth of human erythroid leukemic cells in vitro.</strong>
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J. Clin. Invest. 88: 789-797, 1991.
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|
[PubMed: 1653276]
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[Full Text: https://doi.org/10.1172/JCI115378]
|
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|
|
</p>
|
|
</li>
|
|
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|
<li>
|
|
<p class="mim-text-font">
|
|
Noguchi, C. T., Bae, K. S., Chin, K., Wada, Y., Schechter, A. N., Hankins, W. D.
|
|
<strong>Cloning of the human erythropoietin receptor gene.</strong>
|
|
Blood 78: 2548-2556, 1991.
|
|
|
|
|
|
[PubMed: 1668606]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Penny, L. A., Forget, B. G.
|
|
<strong>Genomic organization of the human erythropoietin receptor gene.</strong>
|
|
Genomics 11: 974-980, 1991.
|
|
|
|
|
|
[PubMed: 1664413]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0888-7543(91)90022-7]
|
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|
</p>
|
|
</li>
|
|
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<li>
|
|
<p class="mim-text-font">
|
|
Percy, M. J., McMullin, M. F., Roques, A. W. W., Westwood, N. B., Acharya, J., Hughes, A. E., Lappin, T. R. J., Pearson, T. C.
|
|
<strong>Erythrocytosis due to a mutation in the erythropoietin receptor gene.</strong>
|
|
Brit. J. Haemat. 100: 407-410, 1998.
|
|
|
|
|
|
[PubMed: 9488636]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1046/j.1365-2141.1998.00550.x]
|
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|
|
</p>
|
|
</li>
|
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<li>
|
|
<p class="mim-text-font">
|
|
Prchal, J. T., Crist, W. M., Goldwasser, E., Perrine, G., Prchal, J. F.
|
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<strong>Autosomal dominant polycythemia.</strong>
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Blood 66: 1208-1214, 1985.
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[PubMed: 4052634]
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</p>
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Sistonen, P., Traskelin, A.-L., Lehvaslaiho, H., de la Chapelle, A.
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<strong>Genetic mapping of the erythropoietin receptor gene.</strong>
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Hum. Genet. 92: 299-301, 1993.
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[PubMed: 8406437]
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[Full Text: https://doi.org/10.1007/BF00244476]
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Sokol, L., Luhovy, M., Guan, Y., Prchal, J. F., Semenza, G. L., Prchal, J. T.
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<strong>Primary familial polycythemia: a frameshift mutation in the erythropoietin receptor gene and increased sensitivity of erythroid progenitors to erythropoietin.</strong>
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Blood 86: 15-22, 1995.
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[PubMed: 7795221]
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Ward, J. C., Harris, K. W., Penny, L. A., Forget, B. G., Kitamura, T., Winkelmann, J. C.
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<strong>A structurally abnormal erythropoietin receptor gene in a human erythroleukemia cell line.</strong>
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Exp. Hemat. 20: 371-373, 1992.
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[PubMed: 1314735]
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Watowich, S. S., Xie, X., Klingmuller, U., Kere, J., Lindlof, M., Berglund, S., de la Chapelle, A.
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<strong>Erythropoietin receptor mutations associated with familial erythrocytosis cause hypersensitivity to erythropoietin in the heterozygous state.</strong>
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Blood 94: 2530-2532, 1999.
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[PubMed: 10498627]
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Winkelmann, J. C., Penny, L. A., Deaven, L. L., Forget, B. G., Jenkins, R. B.
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<strong>The gene for the human erythropoietin receptor: analysis of the coding sequence and assignment to chromosome 19p.</strong>
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[PubMed: 2163695]
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Yu, X., Lin, C.-S., Costantini, F., Noguchi, C. T.
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<strong>The human erythropoietin receptor gene rescues erythropoiesis and developmental defects in the erythropoietin receptor null mouse.</strong>
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Blood 98: 475-477, 2001.
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[PubMed: 11435319]
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[Full Text: https://doi.org/10.1182/blood.v98.2.475]
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Ada Hamosh - updated : 11/19/2018<br>Bao Lige - updated : 06/14/2018<br>Ada Hamosh - updated : 07/01/2010<br>Victor A. McKusick - updated : 12/13/2005<br>Victor A. McKusick - updated : 2/11/2002<br>Victor A. McKusick - updated : 11/6/2001<br>Victor A. McKusick - updated : 3/5/2001<br>Ada Hamosh - updated : 3/10/2000<br>Victor A. McKusick - updated : 7/20/1998<br>Victor A. McKusick - updated : 4/30/1998<br>Victor A. McKusick - updated : 1/21/1998<br>Victor A. McKusick - updated : 9/9/1997
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Victor A. McKusick : 9/8/1990
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carol : 11/19/2018<br>alopez : 11/09/2018<br>ckniffin : 10/30/2018<br>carol : 06/15/2018<br>mgross : 06/14/2018<br>mgross : 06/14/2018<br>alopez : 07/01/2010<br>carol : 5/24/2006<br>carol : 5/24/2006<br>ckniffin : 5/23/2006<br>alopez : 1/6/2006<br>terry : 12/13/2005<br>carol : 2/21/2002<br>carol : 2/21/2002<br>terry : 2/11/2002<br>alopez : 11/12/2001<br>terry : 11/6/2001<br>carol : 4/3/2001<br>mcapotos : 3/12/2001<br>mcapotos : 3/7/2001<br>terry : 3/5/2001<br>alopez : 3/10/2000<br>alopez : 7/22/1998<br>terry : 7/20/1998<br>terry : 7/20/1998<br>carol : 5/4/1998<br>terry : 4/30/1998<br>mark : 1/25/1998<br>terry : 1/21/1998<br>terry : 9/10/1997<br>terry : 9/9/1997<br>joanna : 8/22/1997<br>mark : 6/14/1997<br>mark : 9/10/1996<br>mark : 3/31/1996<br>terry : 3/21/1996<br>mark : 9/17/1995<br>carol : 1/30/1995<br>terry : 7/5/1994<br>carol : 12/15/1993<br>carol : 7/13/1993<br>carol : 6/10/1993
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