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Entry
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- *604174 - RIBOSOMAL PROTEIN L15; RPL15
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- OMIM
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<p>
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<span class="h4">*604174</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="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<a href="#mapping">Mapping</a>
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#genotypePhenotypeCorrelations">Genotype/Phenotype Correlations</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/604174">Table View</a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000174748;t=ENST00000307839" 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=6138" 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=604174" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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<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=ENSG00000174748;t=ENST00000307839" 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_001253379,NM_001253380,NM_001253382,NM_001253383,NM_001253384,NM_002948" 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_002948" 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=604174" 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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<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=16043&isoform_id=16043_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/RPL15" 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/414587,4432751,10281742,12006350,15431293,15928753,17932940,33694242,40046838,40046840,45872612,47117726,47682898,48735286,51980485,54696212,119584741,119584742,119584743,158254824,158257432,194374493,194386084,358356396,358356398,358356402,358356404,358356407" 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/P61313" 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=6138" 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=ENSG00000174748;t=ENST00000307839" 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=RPL15" 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=RPL15" 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+6138" 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/RPL15" 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:6138" 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/6138" 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=chr3&hgg_gene=ENST00000307839.10&hgg_start=23916545&hgg_end=23924631&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:10306" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=604174[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=604174[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/ENSG00000174748" 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=RPL15" 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=RPL15" 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=RPL15" 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=RPL15&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/PA34674" 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:10306" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0028697.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1913730" 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/RPL15#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:1913730" 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/6138/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=6138" class="mim-tip-hint" title="Hierarchical catalogue of orthologs." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrthoDB', 'domain': 'orthodb.org'})">OrthoDB</a></div>
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<div><a href="https://wormbase.org/db/gene/gene?name=WBGene00004427;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-040801-183" 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:6138" 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=RPL15&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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604174
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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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RIBOSOMAL PROTEIN L15; RPL15
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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=RPL15" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">RPL15</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/3/121?start=-3&limit=10&highlight=121">3p24.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr3:23916545-23924631&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'})">3:23,916,545-23,924,631</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/3/121?start=-3&limit=10&highlight=121">
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3p24.2
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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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Diamond-Blackfan anemia 12
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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/615550"> 615550 </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">
|
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PheneGene Graphics <span class="caret"></span>
|
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</button>
|
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<ul class="dropdown-menu" style="width: 17em;">
|
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<li><a href="/graph/linear/604174" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
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<li><a href="/graph/radial/604174" 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="description" class="mim-anchor"></a>
|
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
|
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<span class="mim-text-font">
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<p>The mammalian ribosome is composed of 4 RNA species (see <a href="/entry/180450">180450</a>) and approximately 80 different proteins (see <a href="/entry/180466">180466</a>).</p>
|
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</span>
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<p><a href="#1" class="mim-tip-reference" title="Adams, M. D., Dubnick, M., Kerlavage, A. R., Moreno, R., Kelley, J. M., Utterback, T. R., Nagle, J. W., Fields, C., Venter, J. C. <strong>Sequence identification of 2,375 human brain genes.</strong> Nature 355: 632-634, 1992. Note: Comment: Nature 357: 367-368, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1538749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1538749</a>] [<a href="https://doi.org/10.1038/355632a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1538749">Adams et al. (1992)</a> isolated an RPL15 cDNA as a human brain EST that shows sequence similarity to the yeast ribosomal protein YL10 gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1538749" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The complete coding sequence of the human RPL15 gene has been deposited in GenBank (<a href="https://www.ncbi.nlm.nih.gov/search/all/?term=L25899" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">L25899</a>). The deduced RPL15 protein has 205 amino acids.</p>
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<p>In mice, <a href="#2" class="mim-tip-reference" title="Ebright, R. Y., Lee, S., Wittner, B. S., Niederhoffer, K. L., Nicholson, B. T., Bardia, A., Truesdell, S., Wiley, D. F., Wesley, B., Li, S., Mai, A., Aceto, N., and 13 others. <strong>Deregulation of ribosomal protein expression and translation promotes breast cancer metastasis.</strong> Science 367: 1468-1473, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32029688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32029688</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32029688[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1126/science.aay0939" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32029688">Ebright et al. (2020)</a> conducted an in vivo genomewide CRISPR activation screen in circulating tumor cells from breast cancer patients to identify genes that promote distant metastasis. Genes coding for ribosomal proteins and regulators of translation were enriched in this screen. Overexpression of RPL15 increased metastatic growth in multiple organs and selectively enhanced translation of other ribosomal proteins and cell cycle regulators. RNA sequencing of freshly isolated circulating tumor cells from breast cancer patients revealed a subset with strong ribosome and protein synthesis signatures; these circulating tumor cells expressed proliferation and epithelial markers and correlated with poor clinical outcome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32029688" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By somatic cell hybrid and radiation hybrid mapping analyses, <a href="#4" class="mim-tip-reference" title="Kenmochi, N., Kawaguchi, T., Rozen, S., Davis, E., Goodman, N., Hudson, T. J., Tanaka, T., Page, D. C. <strong>A map of 75 human ribosomal protein genes.</strong> Genome Res. 8: 509-523, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9582194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9582194</a>] [<a href="https://doi.org/10.1101/gr.8.5.509" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9582194">Kenmochi et al. (1998)</a> mapped the human RPL15 gene to 3p. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9582194" 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="Gross, M. B. <strong>Personal Communication.</strong> Baltimore, Md. 12/19/2013."None>Gross (2013)</a> mapped the RPL15 gene to chromosome 3p24.2 based on an alignment of the RPL15 sequence (GenBank <a href="https://www.ncbi.nlm.nih.gov/search/all/?term=AF279903" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'GENBANK\', \'domain\': \'ncbi.nlm.nih.gov\'})">AF279903</a>) with the genomic sequence (GRCh37).</p>
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<p><a href="#5" class="mim-tip-reference" title="Landowski, M., O'Donohue, M.-F., Buros, C., Ghazvinian, R., Montel-Lehry, N., Vlachos, A., Sieff, C. A., Newburger, P. E., Niewiadomska, E., Matysiak, M., Glader, B., Atsidaftos, E., Lipton, J. M., Beggs, A. H., Gleizes, P.-E., Gazda, H. T. <strong>Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.</strong> Hum. Genet. 132: 1265-1274, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23812780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23812780</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23812780[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/10.1007/s00439-013-1326-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23812780">Landowski et al. (2013)</a> performed array CGH for copy number variation in 87 probands with Diamond-Blackfan anemia (DBA12; <a href="/entry/615550">615550</a>) who were negative for mutation in 10 known DBA-associated ribosomal protein genes, and identified a large deletion in the RPL15 gene in 1 patient (<a href="#0001">604174.0001</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23812780" 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="Wlodarski, M. W., Da Costa, L., O'Donohue, M. F., Gastou, M., Karboul, N., Montel-Lehry, N., Hainmann, I., Danda, D., Szvetnik, A., Pastor, V., Paolini, N., di Summa, F. M., Tamary, H., Quider, A. A., Aspesi, A., Houtkooper, R. H., Leblanc, T., Niemeyer, C. M., Gleizes, P. E., MacInnes, A. W. <strong>Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.</strong> Haematologica 103: 949-958, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29599205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29599205</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29599205[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/10.3324/haematol.2017.177980" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29599205">Wlodarski et al. (2018)</a> identified heterozygous nonsense and missense mutations in the RPL15 gene in 6 unrelated patients with DBA12 (<a href="#0002">604174.0002</a>-<a href="#0005">604174.0005</a>). One of the nonsense mutations (Y81X; <a href="#0002">604174.0002</a>) was found in 3 patients. The mutations were identified by Sanger sequencing of the RPL15 gene in a cohort of 985 patients with DBA without a molecular diagnosis. Lymphoblastoid cells from 2 of the patients with the Y81X mutation showed impaired pre-rRNA processing, decreased 60S ribosomal subunit formation, and deficient cell proliferation. Bone marrow mononuclear cells from these 2 patients also showed increased TP53-induced apoptosis and increased p21 mRNA and delayed erythrocyte maturation compared to wildtype cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29599205" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#6" class="mim-tip-reference" title="Wlodarski, M. W., Da Costa, L., O'Donohue, M. F., Gastou, M., Karboul, N., Montel-Lehry, N., Hainmann, I., Danda, D., Szvetnik, A., Pastor, V., Paolini, N., di Summa, F. M., Tamary, H., Quider, A. A., Aspesi, A., Houtkooper, R. H., Leblanc, T., Niemeyer, C. M., Gleizes, P. E., MacInnes, A. W. <strong>Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.</strong> Haematologica 103: 949-958, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29599205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29599205</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29599205[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/10.3324/haematol.2017.177980" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29599205">Wlodarski et al. (2018)</a> identified heterozygous nonsense mutations in the RPL15 gene in 4 unrelated patients with DBS12, 3 with a Y81X mutation (<a href="#0002">604174.0002</a>) and 1 with a Q29X mutation (<a href="#0003">604174.0003</a>). Three of these patients had hydrops fetalis, which is a rare presentation in DBA. The 3 patients with a Y81X mutation achieved rapid treatment independence, both with or without steroid therapy. This treatment independence was not due to gene mutation reversion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29599205" 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=604174[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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<p>In a female patient with Diamond-Blackfan anemia (DBA12; <a href="/entry/615550">615550</a>), <a href="#5" class="mim-tip-reference" title="Landowski, M., O'Donohue, M.-F., Buros, C., Ghazvinian, R., Montel-Lehry, N., Vlachos, A., Sieff, C. A., Newburger, P. E., Niewiadomska, E., Matysiak, M., Glader, B., Atsidaftos, E., Lipton, J. M., Beggs, A. H., Gleizes, P.-E., Gazda, H. T. <strong>Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.</strong> Hum. Genet. 132: 1265-1274, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23812780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23812780</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23812780[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/10.1007/s00439-013-1326-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23812780">Landowski et al. (2013)</a> identified heterozygosity for a 2,393-bp deletion at chr3:23,935,161-23,937,553 (NCBI36), containing all of exon 4 of the RPL15 gene (EX4DEL). Validation by mPCR showed that only the PCR product from exon 4 was significantly decreased; mPCR in unaffected family members showed ratios more similar to controls than to the proband. Functional analysis by knockdown of RPL15 in HeLa cells showed a drop in free 60S ribosomal subunits and the appearance of half-mers in the polysome profile, characteristic of defective 60S subunit production. There were also decreased levels of 32S and 12S pre-rRNAs, precursors to the 5.8S and 28S rRNAs. In addition, there was accumulation of the 41S, 30S, and 18S-E pre-rRNAs relative to the 21S pre-rRNA, suggesting a defect in internal transcribed spacer-1 (ITS1) cleavage at site 2. Analysis of RNA from patient lymphoblastoid cell lines showed a pattern consistent with the findings in the knocked-down HeLa cells, strongly suggesting that the RPL15 deletion affects pre-rRNA processing in patient cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23812780" 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=RCV003228754 OR RCV003973781 OR RCV004697276" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003228754, RCV003973781, RCV004697276" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003228754...</a>
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<p>In 3 unrelated patients (patients 1-3) with Diamond-Blackfan anemia (DBA12; <a href="/entry/615550">615550</a>), <a href="#6" class="mim-tip-reference" title="Wlodarski, M. W., Da Costa, L., O'Donohue, M. F., Gastou, M., Karboul, N., Montel-Lehry, N., Hainmann, I., Danda, D., Szvetnik, A., Pastor, V., Paolini, N., di Summa, F. M., Tamary, H., Quider, A. A., Aspesi, A., Houtkooper, R. H., Leblanc, T., Niemeyer, C. M., Gleizes, P. E., MacInnes, A. W. <strong>Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.</strong> Haematologica 103: 949-958, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29599205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29599205</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29599205[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/10.3324/haematol.2017.177980" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29599205">Wlodarski et al. (2018)</a> identified heterozygosity for a 1-bp duplication (c.242dupA, NM_001253379.1) in the RPL15 gene, resulting in a tyr81-to-ter (Y81X) substitution. The mutation was identified by Sanger sequencing of the RPL15 gene in a cohort of patients with DBA without a molecular diagnosis. The father of one of the patients (patient 1) also carried the mutation and was determined to be a silent carrier due to high erythrocyte adenosine deaminase levels. The mutation occurred de novo in the other 2 patients. The variant was not present in the ExAC and gnomAD databases. Lymphoblastoid cells from 2 of the patients showed impaired pre-rRNA processing, decreased 60S ribosomal subunit formation, and deficient cell proliferation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29599205" 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=RCV003228755" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003228755" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003228755</a>
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<p>In a patient (patient 4) with Diamond-Blackfan anemia (DBA12; <a href="/entry/615550">615550</a>), <a href="#6" class="mim-tip-reference" title="Wlodarski, M. W., Da Costa, L., O'Donohue, M. F., Gastou, M., Karboul, N., Montel-Lehry, N., Hainmann, I., Danda, D., Szvetnik, A., Pastor, V., Paolini, N., di Summa, F. M., Tamary, H., Quider, A. A., Aspesi, A., Houtkooper, R. H., Leblanc, T., Niemeyer, C. M., Gleizes, P. E., MacInnes, A. W. <strong>Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.</strong> Haematologica 103: 949-958, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29599205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29599205</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29599205[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/10.3324/haematol.2017.177980" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29599205">Wlodarski et al. (2018)</a> identified heterozygosity for a c.85C-T transition (c.85C-T, NM_001253379.1) in the RPL15 gene, resulting in a gln29-to-ter (Q29X) substitution. The mutation was identified by Sanger sequencing of the RPL15 gene in a cohort of patients with DBA without a molecular diagnosis. The parents were not tested for the mutation. The variant was not present in the ExAC and gnomAD databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29599205" 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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RPL15, LEU10PRO
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV003228756" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003228756" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003228756</a>
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<p>In a patient (patient 5) with Diamond-Blackfan anemia (DBA12; <a href="/entry/615550">615550</a>), <a href="#6" class="mim-tip-reference" title="Wlodarski, M. W., Da Costa, L., O'Donohue, M. F., Gastou, M., Karboul, N., Montel-Lehry, N., Hainmann, I., Danda, D., Szvetnik, A., Pastor, V., Paolini, N., di Summa, F. M., Tamary, H., Quider, A. A., Aspesi, A., Houtkooper, R. H., Leblanc, T., Niemeyer, C. M., Gleizes, P. E., MacInnes, A. W. <strong>Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.</strong> Haematologica 103: 949-958, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29599205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29599205</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29599205[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/10.3324/haematol.2017.177980" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29599205">Wlodarski et al. (2018)</a> identified heterozygosity for a c.29T-C transition (c.29T-C, NM_001253379.1) in the RPL15 gene, resulting in a leu10-to-pro (L10P) substitution at a conserved site. The mutation was identified by Sanger sequencing of the RPL15 gene in a cohort of patients with DBA without a molecular diagnosis. The mutation was inherited from the patient's mother. The variant was not present in the ExAC and gnomAD databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29599205" 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=RCV003228757" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV003228757" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV003228757</a>
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<p>In a patient (patient 6) with Diamond-Blackfan anemia (DBA12; <a href="/entry/615550">615550</a>), <a href="#6" class="mim-tip-reference" title="Wlodarski, M. W., Da Costa, L., O'Donohue, M. F., Gastou, M., Karboul, N., Montel-Lehry, N., Hainmann, I., Danda, D., Szvetnik, A., Pastor, V., Paolini, N., di Summa, F. M., Tamary, H., Quider, A. A., Aspesi, A., Houtkooper, R. H., Leblanc, T., Niemeyer, C. M., Gleizes, P. E., MacInnes, A. W. <strong>Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.</strong> Haematologica 103: 949-958, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29599205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29599205</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29599205[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/10.3324/haematol.2017.177980" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29599205">Wlodarski et al. (2018)</a> identified heterozygosity for a c.458A-C transversion (c.458A-C, NM_001253379.1) in the RPL15 gene, resulting in a lys153-to-thr (K153T) substitution at a conserved site. The mutation was identified by Sanger sequencing of the RPL15 gene in a cohort of patients with DBA without a molecular diagnosis. The parents were not tested for the mutation. The variant was present in 33 of 232,840 alleles in the gnomAD database. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29599205" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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<a id="Adams1992" class="mim-anchor"></a>
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Adams, M. D., Dubnick, M., Kerlavage, A. R., Moreno, R., Kelley, J. M., Utterback, T. R., Nagle, J. W., Fields, C., Venter, J. C.
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<strong>Sequence identification of 2,375 human brain genes.</strong>
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Nature 355: 632-634, 1992. Note: Comment: Nature 357: 367-368, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1538749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1538749</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1538749" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1038/355632a0" target="_blank">Full Text</a>]
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<a id="Ebright2020" class="mim-anchor"></a>
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Ebright, R. Y., Lee, S., Wittner, B. S., Niederhoffer, K. L., Nicholson, B. T., Bardia, A., Truesdell, S., Wiley, D. F., Wesley, B., Li, S., Mai, A., Aceto, N., and 13 others.
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<strong>Deregulation of ribosomal protein expression and translation promotes breast cancer metastasis.</strong>
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Science 367: 1468-1473, 2020.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32029688/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32029688</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32029688[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=32029688" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.aay0939" target="_blank">Full Text</a>]
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 12/19/2013.
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Kenmochi, N., Kawaguchi, T., Rozen, S., Davis, E., Goodman, N., Hudson, T. J., Tanaka, T., Page, D. C.
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<strong>A map of 75 human ribosomal protein genes.</strong>
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Genome Res. 8: 509-523, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9582194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9582194</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9582194" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1101/gr.8.5.509" target="_blank">Full Text</a>]
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Landowski, M., O'Donohue, M.-F., Buros, C., Ghazvinian, R., Montel-Lehry, N., Vlachos, A., Sieff, C. A., Newburger, P. E., Niewiadomska, E., Matysiak, M., Glader, B., Atsidaftos, E., Lipton, J. M., Beggs, A. H., Gleizes, P.-E., Gazda, H. T.
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<strong>Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.</strong>
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Hum. Genet. 132: 1265-1274, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23812780/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23812780</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=23812780[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=23812780" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s00439-013-1326-z" target="_blank">Full Text</a>]
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Wlodarski, M. W., Da Costa, L., O'Donohue, M. F., Gastou, M., Karboul, N., Montel-Lehry, N., Hainmann, I., Danda, D., Szvetnik, A., Pastor, V., Paolini, N., di Summa, F. M., Tamary, H., Quider, A. A., Aspesi, A., Houtkooper, R. H., Leblanc, T., Niemeyer, C. M., Gleizes, P. E., MacInnes, A. W.
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<strong>Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.</strong>
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Haematologica 103: 949-958, 2018.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29599205/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29599205</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=29599205[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=29599205" 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/10.3324/haematol.2017.177980" target="_blank">Full Text</a>]
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<a id="contributors" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Hilary J. Vernon - updated : 05/17/2023
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 06/17/2020<br>Matthew B. Gross - updated : 12/19/2013<br>Marla J. F. O'Neill - updated : 11/27/2013
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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="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Patti M. Sherman : 9/17/1999
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</span>
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</div>
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<a id="editHistory" class="mim-anchor"></a>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 05/18/2023
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</span>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 05/17/2023<br>carol : 06/18/2020<br>alopez : 06/17/2020<br>alopez : 02/06/2015<br>carol : 6/21/2014<br>mgross : 12/19/2013<br>carol : 12/2/2013<br>mcolton : 11/27/2013<br>psherman : 12/7/1999<br>mgross : 9/20/1999<br>psherman : 9/17/1999
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</span>
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<div class="container visible-print-block">
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 604174
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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RIBOSOMAL PROTEIN L15; RPL15
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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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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: RPL15</em></strong>
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</span>
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</p>
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</div>
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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: 3p24.2
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Genomic coordinates <span class="small">(GRCh38)</span> : 3:23,916,545-23,924,631 </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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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="1">
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<span class="mim-font">
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3p24.2
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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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Diamond-Blackfan anemia 12
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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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615550
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</span>
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</td>
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<td>
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<span class="mim-font">
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Autosomal dominant
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</span>
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</td>
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The mammalian ribosome is composed of 4 RNA species (see 180450) and approximately 80 different proteins (see 180466).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Adams et al. (1992) isolated an RPL15 cDNA as a human brain EST that shows sequence similarity to the yeast ribosomal protein YL10 gene. </p><p>The complete coding sequence of the human RPL15 gene has been deposited in GenBank (L25899). The deduced RPL15 protein has 205 amino acids.</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>In mice, Ebright et al. (2020) conducted an in vivo genomewide CRISPR activation screen in circulating tumor cells from breast cancer patients to identify genes that promote distant metastasis. Genes coding for ribosomal proteins and regulators of translation were enriched in this screen. Overexpression of RPL15 increased metastatic growth in multiple organs and selectively enhanced translation of other ribosomal proteins and cell cycle regulators. RNA sequencing of freshly isolated circulating tumor cells from breast cancer patients revealed a subset with strong ribosome and protein synthesis signatures; these circulating tumor cells expressed proliferation and epithelial markers and correlated with poor clinical outcome. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By somatic cell hybrid and radiation hybrid mapping analyses, Kenmochi et al. (1998) mapped the human RPL15 gene to 3p. </p><p>Gross (2013) mapped the RPL15 gene to chromosome 3p24.2 based on an alignment of the RPL15 sequence (GenBank AF279903) with the genomic sequence (GRCh37).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Landowski et al. (2013) performed array CGH for copy number variation in 87 probands with Diamond-Blackfan anemia (DBA12; 615550) who were negative for mutation in 10 known DBA-associated ribosomal protein genes, and identified a large deletion in the RPL15 gene in 1 patient (604174.0001). </p><p>Wlodarski et al. (2018) identified heterozygous nonsense and missense mutations in the RPL15 gene in 6 unrelated patients with DBA12 (604174.0002-604174.0005). One of the nonsense mutations (Y81X; 604174.0002) was found in 3 patients. The mutations were identified by Sanger sequencing of the RPL15 gene in a cohort of 985 patients with DBA without a molecular diagnosis. Lymphoblastoid cells from 2 of the patients with the Y81X mutation showed impaired pre-rRNA processing, decreased 60S ribosomal subunit formation, and deficient cell proliferation. Bone marrow mononuclear cells from these 2 patients also showed increased TP53-induced apoptosis and increased p21 mRNA and delayed erythrocyte maturation compared to wildtype cells. </p>
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</span>
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<div>
|
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<br />
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>Genotype/Phenotype Correlations</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>Wlodarski et al. (2018) identified heterozygous nonsense mutations in the RPL15 gene in 4 unrelated patients with DBS12, 3 with a Y81X mutation (604174.0002) and 1 with a Q29X mutation (604174.0003). Three of these patients had hydrops fetalis, which is a rare presentation in DBA. The 3 patients with a Y81X mutation achieved rapid treatment independence, both with or without steroid therapy. This treatment independence was not due to gene mutation reversion. </p>
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</span>
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<div>
|
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<br />
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</div>
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</div>
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<div>
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<h4>
|
|
<span class="mim-font">
|
|
<strong>ALLELIC VARIANTS</strong>
|
|
</span>
|
|
<strong>5 Selected Examples):</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
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<div>
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<div>
|
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<h4>
|
|
<span class="mim-font">
|
|
<strong>.0001 DIAMOND-BLACKFAN ANEMIA 12</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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RPL15, 2,393-BP DEL
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|
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<br />
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|
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ClinVar: RCV000074478
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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 a female patient with Diamond-Blackfan anemia (DBA12; 615550), Landowski et al. (2013) identified heterozygosity for a 2,393-bp deletion at chr3:23,935,161-23,937,553 (NCBI36), containing all of exon 4 of the RPL15 gene (EX4DEL). Validation by mPCR showed that only the PCR product from exon 4 was significantly decreased; mPCR in unaffected family members showed ratios more similar to controls than to the proband. Functional analysis by knockdown of RPL15 in HeLa cells showed a drop in free 60S ribosomal subunits and the appearance of half-mers in the polysome profile, characteristic of defective 60S subunit production. There were also decreased levels of 32S and 12S pre-rRNAs, precursors to the 5.8S and 28S rRNAs. In addition, there was accumulation of the 41S, 30S, and 18S-E pre-rRNAs relative to the 21S pre-rRNA, suggesting a defect in internal transcribed spacer-1 (ITS1) cleavage at site 2. Analysis of RNA from patient lymphoblastoid cell lines showed a pattern consistent with the findings in the knocked-down HeLa cells, strongly suggesting that the RPL15 deletion affects pre-rRNA processing in patient cells. </p>
|
|
</span>
|
|
</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>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0002 DIAMOND-BLACKFAN ANEMIA 12</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
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<div>
|
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<span class="mim-text-font">
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|
|
RPL15, TYR81TER
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|
|
<br />
|
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|
|
ClinVar: RCV003228754, RCV003973781, RCV004697276
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|
</span>
|
|
</div>
|
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<div>
|
|
<span class="mim-text-font">
|
|
<p>In 3 unrelated patients (patients 1-3) with Diamond-Blackfan anemia (DBA12; 615550), Wlodarski et al. (2018) identified heterozygosity for a 1-bp duplication (c.242dupA, NM_001253379.1) in the RPL15 gene, resulting in a tyr81-to-ter (Y81X) substitution. The mutation was identified by Sanger sequencing of the RPL15 gene in a cohort of patients with DBA without a molecular diagnosis. The father of one of the patients (patient 1) also carried the mutation and was determined to be a silent carrier due to high erythrocyte adenosine deaminase levels. The mutation occurred de novo in the other 2 patients. The variant was not present in the ExAC and gnomAD databases. Lymphoblastoid cells from 2 of the patients showed impaired pre-rRNA processing, decreased 60S ribosomal subunit formation, and deficient cell proliferation. </p>
|
|
</span>
|
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</div>
|
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<div>
|
|
<br />
|
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</div>
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</div>
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<div>
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|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>.0003 DIAMOND-BLACKFAN ANEMIA 12</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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RPL15, GLN29TER
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<br />
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ClinVar: RCV003228755
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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 a patient (patient 4) with Diamond-Blackfan anemia (DBA12; 615550), Wlodarski et al. (2018) identified heterozygosity for a c.85C-T transition (c.85C-T, NM_001253379.1) in the RPL15 gene, resulting in a gln29-to-ter (Q29X) substitution. The mutation was identified by Sanger sequencing of the RPL15 gene in a cohort of patients with DBA without a molecular diagnosis. The parents were not tested for the mutation. The variant was not present in the ExAC and gnomAD databases. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
|
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<span class="mim-font">
|
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<strong>.0004 DIAMOND-BLACKFAN ANEMIA 12</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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RPL15, LEU10PRO
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<br />
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ClinVar: RCV003228756
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
|
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<p>In a patient (patient 5) with Diamond-Blackfan anemia (DBA12; 615550), Wlodarski et al. (2018) identified heterozygosity for a c.29T-C transition (c.29T-C, NM_001253379.1) in the RPL15 gene, resulting in a leu10-to-pro (L10P) substitution at a conserved site. The mutation was identified by Sanger sequencing of the RPL15 gene in a cohort of patients with DBA without a molecular diagnosis. The mutation was inherited from the patient's mother. The variant was not present in the ExAC and gnomAD databases. </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 DIAMOND-BLACKFAN ANEMIA 12</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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RPL15, LYS153THR
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<br />
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ClinVar: RCV003228757
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</span>
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</div>
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<div>
|
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<span class="mim-text-font">
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<p>In a patient (patient 6) with Diamond-Blackfan anemia (DBA12; 615550), Wlodarski et al. (2018) identified heterozygosity for a c.458A-C transversion (c.458A-C, NM_001253379.1) in the RPL15 gene, resulting in a lys153-to-thr (K153T) substitution at a conserved site. The mutation was identified by Sanger sequencing of the RPL15 gene in a cohort of patients with DBA without a molecular diagnosis. The parents were not tested for the mutation. The variant was present in 33 of 232,840 alleles in the gnomAD database. </p>
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<strong>REFERENCES</strong>
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Adams, M. D., Dubnick, M., Kerlavage, A. R., Moreno, R., Kelley, J. M., Utterback, T. R., Nagle, J. W., Fields, C., Venter, J. C.
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<strong>Sequence identification of 2,375 human brain genes.</strong>
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Nature 355: 632-634, 1992. Note: Comment: Nature 357: 367-368, 1992.
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[PubMed: 1538749]
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[Full Text: https://doi.org/10.1038/355632a0]
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Ebright, R. Y., Lee, S., Wittner, B. S., Niederhoffer, K. L., Nicholson, B. T., Bardia, A., Truesdell, S., Wiley, D. F., Wesley, B., Li, S., Mai, A., Aceto, N., and 13 others.
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<strong>Deregulation of ribosomal protein expression and translation promotes breast cancer metastasis.</strong>
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Science 367: 1468-1473, 2020.
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[PubMed: 32029688]
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[Full Text: https://doi.org/10.1126/science.aay0939]
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Gross, M. B.
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<strong>Personal Communication.</strong>
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Baltimore, Md. 12/19/2013.
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Kenmochi, N., Kawaguchi, T., Rozen, S., Davis, E., Goodman, N., Hudson, T. J., Tanaka, T., Page, D. C.
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<strong>A map of 75 human ribosomal protein genes.</strong>
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Genome Res. 8: 509-523, 1998.
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[PubMed: 9582194]
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[Full Text: https://doi.org/10.1101/gr.8.5.509]
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Landowski, M., O'Donohue, M.-F., Buros, C., Ghazvinian, R., Montel-Lehry, N., Vlachos, A., Sieff, C. A., Newburger, P. E., Niewiadomska, E., Matysiak, M., Glader, B., Atsidaftos, E., Lipton, J. M., Beggs, A. H., Gleizes, P.-E., Gazda, H. T.
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<strong>Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia.</strong>
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Hum. Genet. 132: 1265-1274, 2013.
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[PubMed: 23812780]
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[Full Text: https://doi.org/10.1007/s00439-013-1326-z]
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</p>
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<p class="mim-text-font">
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Wlodarski, M. W., Da Costa, L., O'Donohue, M. F., Gastou, M., Karboul, N., Montel-Lehry, N., Hainmann, I., Danda, D., Szvetnik, A., Pastor, V., Paolini, N., di Summa, F. M., Tamary, H., Quider, A. A., Aspesi, A., Houtkooper, R. H., Leblanc, T., Niemeyer, C. M., Gleizes, P. E., MacInnes, A. W.
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<strong>Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.</strong>
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Haematologica 103: 949-958, 2018.
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[PubMed: 29599205]
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[Full Text: https://doi.org/10.3324/haematol.2017.177980]
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Hilary J. Vernon - updated : 05/17/2023<br>Ada Hamosh - updated : 06/17/2020<br>Matthew B. Gross - updated : 12/19/2013<br>Marla J. F. O'Neill - updated : 11/27/2013
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