2770 lines
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2770 lines
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Entry
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- *400005 - UBIQUITIN-SPECIFIC PROTEASE 9, Y CHROMOSOME; USP9Y
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*400005</span>
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<br />
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<strong>Table of Contents</strong>
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<nav>
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<a href="#title"><strong>Title</strong></a>
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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<a href="#evolution">Evolution</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/400005">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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<a href="#creationDate"><strong>Creation Date</strong></a>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</ul>
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<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 class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000114374;t=ENST00000338981" 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=8287" 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=400005" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000114374;t=ENST00000338981" 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_004654,XM_047442771,XM_047442772" 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_004654" 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=400005" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimProtein">
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<span class="panel-title">
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<span class="small">
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<a href="#mimProteinLinksFold" id="mimProteinLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<span id="mimProteinLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Protein
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</a>
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</span>
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</span>
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</div>
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<div id="mimProteinLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://hprd.org/summary?hprd_id=02449&isoform_id=02449_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/USP9Y" 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/2181867,2181869,2580558,74319833,75858347,119612013,119612014,229462772,444738407,2217401317,2217401319,2462632166,2462632168" 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/O00507" 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=8287" 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=ENSG00000114374;t=ENST00000338981" 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=USP9Y" 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=USP9Y" 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+8287" 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/USP9Y" 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:8287" 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/8287" 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=chrY&hgg_gene=ENST00000338981.7&hgg_start=12701231&hgg_end=12860839&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=400005[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=400005[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/ENSG00000114374" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.gwascentral.org/search?q=USP9Y" 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=USP9Y" 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=USP9Y&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/PA37258" 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:12633" 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/FBgn0005632.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:1313274" 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/USP9Y#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:1313274" 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/8287/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=8287" 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=WBGene00011980;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-061019-1" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
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<span class="panel-title">
|
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<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
|
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=USP9Y&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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400005
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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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UBIQUITIN-SPECIFIC PROTEASE 9, Y CHROMOSOME; USP9Y
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</span>
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</h3>
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</div>
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<div>
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<br />
|
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
|
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<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
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</span>
|
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</p>
|
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</div>
|
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<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
DROSOPHILA FAT FACETS-RELATED, Y-LINKED; DFFRY
|
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</span>
|
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</h4>
|
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</div>
|
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</div>
|
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<div>
|
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<br />
|
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</div>
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</div>
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<div>
|
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
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<p>
|
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<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=USP9Y" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">USP9Y</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">
|
|
<strong>
|
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<em>
|
|
Cytogenetic location: <a href="/geneMap/Y/24?start=-3&limit=10&highlight=24">Yq11.221</a>
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|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrY:12701231-12860839&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'})">Y:12,701,231-12,860,839</a> </span>
|
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</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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|
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</span>
|
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</p>
|
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</div>
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<div>
|
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
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<tr class="active">
|
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<th>
|
|
Location
|
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</th>
|
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<th>
|
|
Phenotype
|
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</th>
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<th>
|
|
Phenotype <br /> MIM number
|
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</th>
|
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<th>
|
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Inheritance
|
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</th>
|
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<th>
|
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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>
|
|
|
|
<tr>
|
|
<td rowspan="1">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/Y/24?start=-3&limit=10&highlight=24">
|
|
Yq11.221
|
|
</a>
|
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</span>
|
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</td>
|
|
|
|
|
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<td>
|
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<span class="mim-font">
|
|
Spermatogenic failure, Y-linked, 2
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<a href="/entry/415000"> 415000 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Y-linked">YL</abbr>
|
|
|
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</span>
|
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</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
|
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</tr>
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</tbody>
|
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/400005" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/400005" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</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>
|
|
|
|
<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
|
</h4>
|
|
|
|
|
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|
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<div>
|
|
<a id="cloning" class="mim-anchor"></a>
|
|
<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Cloning and Expression</strong>
|
|
</span>
|
|
</h4>
|
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</div>
|
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
|
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<span class="mim-text-font">
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<p><a href="#4" class="mim-tip-reference" title="Jones, M. H., Furlong, R. A., Burkin, H., Chalmers, I. J., Brown, G. M., Khwaja, O., Affara, N. A. <strong>The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2.</strong> Hum. Molec. Genet. 5: 1695-1701, 1996. Note: Erratum: Hum. Molec. Genet. 6: 334-335, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8922996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8922996</a>] [<a href="https://doi.org/10.1093/hmg/5.11.1695" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8922996">Jones et al. (1996)</a> reported that an expressed sequence tag (EST 221) derived from human adult testis shares homology with the Drosophila fat facets (faf) gene. They detected related sequences on both the human X and Y chromosomes. They used EST 221 to derive clones covering the complete open reading frame of the X-specific locus they termed DFFRX (<a href="/entry/300072">300072</a>). Y-specific cDNA clones were derived and the corresponding Y-specific locus designated DFFRY. Over the 2 regions corresponding to nucleotides 6 to 1901 and nucleotides 5815 to 7907 of the DFFRX sequence, the X- and Y-specific sequences share 91% and 88% identity, respectively. Both putative gene products contain conserved cysteine and histidine domains that have been described in ubiquitin C-terminal hydrolases (e.g., <a href="/entry/191342">191342</a>). Multiple stop codons in the 3-prime region of DFFRY suggested that the Y locus may encode a truncated product or may represent a nonfunctional pseudogene. <a href="#4" class="mim-tip-reference" title="Jones, M. H., Furlong, R. A., Burkin, H., Chalmers, I. J., Brown, G. M., Khwaja, O., Affara, N. A. <strong>The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2.</strong> Hum. Molec. Genet. 5: 1695-1701, 1996. Note: Erratum: Hum. Molec. Genet. 6: 334-335, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8922996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8922996</a>] [<a href="https://doi.org/10.1093/hmg/5.11.1695" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8922996">Jones et al. (1996)</a> detected expression of both DFFRX and DFFRY in developing human tissues. They found also that sequences detected by the EST 221 were widely expressed in adult human tissues. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8922996" 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="#1" class="mim-tip-reference" title="Brown, G. M., Furlong, R. A., Sargent, C. A., Erickson, R. P., Longepied, G., Mitchell, M., Jones, M. H., Hargreave, T. B., Cooke, H. J., Affara, N. A. <strong>Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxr-b interval of the mouse Y chromosome of the Dffry gene.</strong> Hum. Molec. Genet. 7: 97-107, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9384609/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9384609</a>] [<a href="https://doi.org/10.1093/hmg/7.1.97" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9384609">Brown et al. (1998)</a> noted that the coding regions of the DFFRY and DFFRX genes show 89% identity at the nucleotide level. In common with DFFRX, the potential amino acid sequence of DFFRY contains the conserved cys and his domains characteristic of ubiquitin C-terminal hydrolases. The human DFFRY mRNA is expressed in a wide range of adult and embryonic tissues, including testis, whereas the homologous mouse Dffry gene is expressed specifically in the testis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9384609" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#4" class="mim-tip-reference" title="Jones, M. H., Furlong, R. A., Burkin, H., Chalmers, I. J., Brown, G. M., Khwaja, O., Affara, N. A. <strong>The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2.</strong> Hum. Molec. Genet. 5: 1695-1701, 1996. Note: Erratum: Hum. Molec. Genet. 6: 334-335, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8922996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8922996</a>] [<a href="https://doi.org/10.1093/hmg/5.11.1695" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8922996">Jones et al. (1996)</a> mapped DFFRY to Yq11.2 by Southern analysis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8922996" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Brown, G. M., Furlong, R. A., Sargent, C. A., Erickson, R. P., Longepied, G., Mitchell, M., Jones, M. H., Hargreave, T. B., Cooke, H. J., Affara, N. A. <strong>Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxr-b interval of the mouse Y chromosome of the Dffry gene.</strong> Hum. Molec. Genet. 7: 97-107, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9384609/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9384609</a>] [<a href="https://doi.org/10.1093/hmg/7.1.97" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9384609">Brown et al. (1998)</a> found that 3 azoospermic male patients had deletion of DFFRY from the Y chromosome. Two patients had a testicular phenotype that resembled Sertoli cell-only type I (see <a href="/entry/400042">400042</a>), and the third (patient 'Sayer') had diminished spermatogenesis (see <a href="#0002">400005.0002</a>). In all 3 patients, the deletions extended from close to the 3-prime end into the gene, removing the entire coding sequence of DFFRY. <a href="#1" class="mim-tip-reference" title="Brown, G. M., Furlong, R. A., Sargent, C. A., Erickson, R. P., Longepied, G., Mitchell, M., Jones, M. H., Hargreave, T. B., Cooke, H. J., Affara, N. A. <strong>Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxr-b interval of the mouse Y chromosome of the Dffry gene.</strong> Hum. Molec. Genet. 7: 97-107, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9384609/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9384609</a>] [<a href="https://doi.org/10.1093/hmg/7.1.97" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9384609">Brown et al. (1998)</a> showed that the mouse Dffry gene maps to the Sxr-b deletion interval on the shorter arm of the mouse Y chromosome and that its expression in mouse testis can first be detected between 7.5 and 10.5 days after birth when type A and B spermatogonia and preleptotene and leptotene spermatocytes are present. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9384609" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Sargent, C. A.., Boucher, C. A., Kirsch, S., Brown, G., Weiss, B., Trundley, A., Burgoyne, P., Saut, N., Durand, C., Levy, N., Terriou, P., Hargreave, T., Cooke, H., Mitchell, M., Rappold, G. A., Affara, N. A. <strong>The critical region of overlap defining the AZFa male infertility interval of proximal Yq contains three transcribed sequences.</strong> J. Med. Genet. 36: 670-677, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10507722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10507722</a>]" pmid="10507722">Sargent et al. (1999)</a> refined the deletion breakpoints in 4 patients with AZFa male infertility. All patients had USP9Y and an anonymous EST, AZFaT1, deleted in their entirety, and 3 patients also had DBY (<a href="/entry/400010">400010</a>) deleted. The 3 patients with AZFaT1, USP9Y, and DBY deleted showed a severe Sertoli cell-only type I phenotype, whereas the patient who had retained DBY (SAYER, originally reported by <a href="#1" class="mim-tip-reference" title="Brown, G. M., Furlong, R. A., Sargent, C. A., Erickson, R. P., Longepied, G., Mitchell, M., Jones, M. H., Hargreave, T. B., Cooke, H. J., Affara, N. A. <strong>Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxr-b interval of the mouse Y chromosome of the Dffry gene.</strong> Hum. Molec. Genet. 7: 97-107, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9384609/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9384609</a>] [<a href="https://doi.org/10.1093/hmg/7.1.97" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9384609">Brown et al., 1998</a>) showed a milder oligozoospermic phenotype (see <a href="#0002">400005.0002</a>). RT-PCR analysis of mouse testis RNA showed that Dby is expressed primarily in somatic cells, while Usp9y is expressed specifically in testis in a germ cell-dependent fashion. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9384609+10507722" 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="#9" class="mim-tip-reference" title="Sun, C., Skaletsky, H., Birren, B., Devon, K., Tang, Z., Silber, S., Oates, R., Page, D. C. <strong>An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y.</strong> Nature Genet. 23: 429-432, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10581029/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10581029</a>] [<a href="https://doi.org/10.1038/70539" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10581029">Sun et al. (1999)</a> were the first to trace spermatogenic failure to a point mutation in a Y-linked gene or to a deletion of a single Y-linked gene. They sequenced the AZFa (see <a href="/entry/415000">415000</a>) region of the Y chromosome and identified 2 previously described functional genes: USP9Y and DBY (<a href="/entry/400010">400010</a>). Screening of the 2 genes in 576 infertile and 96 fertile men revealed several sequence variants, most of which appeared to be heritable and of little functional consequence. They found 1 de novo mutation in USP9Y (<a href="#0001">400005.0001</a>): a 4-bp deletion in the splice donor site, causing an exon to be skipped and protein truncation. This mutation was present in a man with nonobstructive azoospermia, but was absent in his fertile brother, suggesting that the USP9Y mutation caused spermatogenic failure. <a href="#9" class="mim-tip-reference" title="Sun, C., Skaletsky, H., Birren, B., Devon, K., Tang, Z., Silber, S., Oates, R., Page, D. C. <strong>An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y.</strong> Nature Genet. 23: 429-432, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10581029/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10581029</a>] [<a href="https://doi.org/10.1038/70539" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10581029">Sun et al. (1999)</a> also identified a single gene deletion associated with spermatogenic failure, again involving USP9Y, by reanalyzing the third patient (SAYER) from <a href="#1" class="mim-tip-reference" title="Brown, G. M., Furlong, R. A., Sargent, C. A., Erickson, R. P., Longepied, G., Mitchell, M., Jones, M. H., Hargreave, T. B., Cooke, H. J., Affara, N. A. <strong>Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxr-b interval of the mouse Y chromosome of the Dffry gene.</strong> Hum. Molec. Genet. 7: 97-107, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9384609/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9384609</a>] [<a href="https://doi.org/10.1093/hmg/7.1.97" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9384609">Brown et al. (1998)</a>; see <a href="#0002">400005.0002</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9384609+10581029" 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="Foresta, C., Ferlin, A., Moro, E. <strong>Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility.</strong> Hum. Molec. Genet. 9: 1161-1169, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10767340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10767340</a>] [<a href="https://doi.org/10.1093/hmg/9.8.1161" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10767340">Foresta et al. (2000)</a> described a complete sequence map of the AZFa region, the genomic structure of AZFa genes, and their deletion analysis in 173 infertile men with well-defined spermatogenic alterations. Deletions were found in 9 patients: DBY alone was deleted in 6, USP9Y alone in one (<a href="#0002">400005.0002</a>), and there was one each with USP9Y-DBY or DBY-UTY (<a href="/entry/400009">400009</a>) missing. No patients solely lacked UTY. Patients lacking DBY exhibited either Sertoli cell-only syndrome or severe hypospermatogenesis. Expression analysis of AZFa genes and their X homologs revealed ubiquitous expression for all of them except DBY; a shorter DBY transcript was expressed only in testis. The authors suggested that DBY plays a key role in the spermatogenic process. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10767340" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a normospermic man and his brother and father, <a href="#5" class="mim-tip-reference" title="Luddi, A., Margollicci, M., Gambera, L., Serafini, F., Cioni, M., De Leo, V., Balestri, P., Piomboni, P. <strong>Spermatogenesis in a man with complete deletion of USP9Y.</strong> New Eng. J. Med. 360: 881-885, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19246359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19246359</a>] [<a href="https://doi.org/10.1056/NEJMoa0806218" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19246359">Luddi et al. (2009)</a> identified a deletion in the AZFa region that encompassed the USP9Y gene (<a href="#0002">400005.0002</a>). The authors concluded that USP9Y is not essential for normal sperm production and fertility in humans. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19246359" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a worldwide sample of human Y chromosomes, <a href="#10" class="mim-tip-reference" title="Thomson, R., Pritchard, J. K., Shen, P., Oefner, P. J., Feldman, M. W. <strong>Recent common ancestry of human Y chromosomes: evidence from DNA sequence data.</strong> Proc. Nat. Acad. Sci. 97: 7360-7365, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10861004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10861004</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10861004[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.97.13.7360" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10861004">Thomson et al. (2000)</a> analyzed DNA sequence variation at 3 Y chromosome genes: SMCY (KDM5D; <a href="/entry/426000">426000</a>), DBY, and DFFRY. They used denaturing high-performance liquid chromatography to determine sequence variation at each locus. They focused on estimating the expected time to the most recent common ancestor (TMRCA) and the expected ages of certain mutations with interesting geographic distributions. Although the geographic structure of the inferred haplotype tree was reminiscent of that obtained for other loci (the root is in Africa, and most of the oldest non-African lineages are Asian), the expected TMRCA was found to be remarkably short, on the order of 50,000 years. They estimated that the spread of Y chromosomes out of Africa was much more recent than previously thought. Their data also indicated substantial population growth in the effective number of different human Y chromosomes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10861004" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By use of denaturing HPLC, <a href="#8" class="mim-tip-reference" title="Shen, P., Wang, F., Underhill, P. A., Franco, C., Yang, W.-H., Roxas, A., Sung, R., Lin, A. A., Hyman, R. W., Vollrath, D., Davis, R. W., Cavalli-Sforza, L. L., Oefner, P. J. <strong>Population genetic implications from sequence variation in four Y chromosome genes.</strong> Proc. Nat. Acad. Sci. 97: 7354-7359, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10861003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10861003</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10861003[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.97.13.7354" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10861003">Shen et al. (2000)</a> screened the DFFRY, SMCY, DBY, and UTY1 genes for polymorphic markers in males representative of the 5 continents. Nucleotide diversity was found in the coding regions of 3 of the genes but was not observed in DBY. In agreement with most autosomal genes, diversity estimates for the noncoding regions were about 2- to 3-fold higher than those for coding regions. Pairwise nucleotide mismatch distributions dated the occurrence of population expansion to approximately 28,000 years ago. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10861003" 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="Mendez, F. L., Poznik, G. D., Castellano, S., Bustamante, C. D. <strong>The divergence of Neandertal and modern human Y chromosomes.</strong> Am. J. Hum. Genet. 98: 728-734, 2016.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27058445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27058445</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27058445[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2016.02.023" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="27058445">Mendez et al. (2016)</a> compared approximately 120 kb of exome-captured Y-chromosome DNA from a Neandertal male from Spain with orthologous chimpanzee and modern human sequences. They found support for a model that placed the Neandertal lineage as an outgroup to modern human Y chromosomes, including A00, the highly divergent basal haplogroup. The authors estimated that the TMRCA of Neandertal and modern human Y chromosomes was approximately 588,000 years ago, approximately 2 times longer than the TMRCA of A00 and other extant modern human Y-chromosome lineages. The estimate suggested that the Y-chromosome divergence mirrored the population divergence of Neandertals, whose Y sequence is not found in modern humans, and modern human ancestors. Notable coding differences between Neandertal and modern human Y chromosomes included potentially damaging changes to PCDH11Y (<a href="/entry/400022">400022</a>), TMSB4Y (<a href="/entry/400017">400017</a>), USP9Y, and KDM5D. Three of these changes occurred in genes that produce male-specific minor histocompatibility (H-Y) antigens that may elicit a maternal immune response during gestation. The authors hypothesized that the incompatibilities at 1 or more of these genes may have played a role in the reproductive isolation of the 2 groups. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=27058445" 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>.0001 AZOOSPERMIA, NONOBSTRUCTIVE, Y-LINKED</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown"><span class="text-primary">●</span> rs778145751 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs778145751;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://gnomad.broadinstitute.org/variant/rs778145751?dataset=gnomad_r2_1" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'gnomad.broadinstitute.org'})" style="padding-left: 8px;"><span class="text-primary">●</span> gnomAD</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs778145751" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs778145751" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000010411" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000010411" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000010411</a>
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<p>In an azoospermic (<a href="/entry/415000">415000</a>) and infertile but otherwise healthy male, <a href="#9" class="mim-tip-reference" title="Sun, C., Skaletsky, H., Birren, B., Devon, K., Tang, Z., Silber, S., Oates, R., Page, D. C. <strong>An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y.</strong> Nature Genet. 23: 429-432, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10581029/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10581029</a>] [<a href="https://doi.org/10.1038/70539" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10581029">Sun et al. (1999)</a> discovered a 4-bp deletion in the splice donor site of USP9Y intron 7. The deletion was not present in the man's brother, who had fathered 2 children. The men were found to share a rare Y haplotype not reported previously. These findings suggested that the 2 men inherited the same Y chromosome apart from what was evidently a de novo USP9Y mutation in the azoospermic man. The splice site deletion predicted the skipping of exon 7, shifting the reading frame and causing USP9Y to be truncated by approximately 90%. This was confirmed by sizing and sequencing of the RT-PCR product in the proband and his brother. The splice site/frameshift mutation, falling near the 5-prime end of the USP9Y coding sequence, was expected to result in the loss of USP9Y function. A testicular biopsy of the patient revealed hypospermatogenesis with spermatogenic arrest. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10581029" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>In a patient with hypospermatogenesis (<a href="/entry/400042">400042</a>), previously studied by <a href="#2" class="mim-tip-reference" title="Ferlin, A., Moro, E., Garolla, A., Foresta, C. <strong>Human male infertility and Y chromosome deletions: role of the AZF-candidate genes DAZ, RBM and DFFRY.</strong> Hum. Reprod. 14: 1710-1716, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10402373/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10402373</a>] [<a href="https://doi.org/10.1093/humrep/14.7.1710" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10402373">Ferlin et al. (1999)</a>, <a href="#3" class="mim-tip-reference" title="Foresta, C., Ferlin, A., Moro, E. <strong>Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility.</strong> Hum. Molec. Genet. 9: 1161-1169, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10767340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10767340</a>] [<a href="https://doi.org/10.1093/hmg/9.8.1161" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10767340">Foresta et al. (2000)</a> reported a deletion of the entire USP9Y coding region. The testicular phenotype was identical to that of a patient (SAYER), earlier reported by <a href="#1" class="mim-tip-reference" title="Brown, G. M., Furlong, R. A., Sargent, C. A., Erickson, R. P., Longepied, G., Mitchell, M., Jones, M. H., Hargreave, T. B., Cooke, H. J., Affara, N. A. <strong>Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxr-b interval of the mouse Y chromosome of the Dffry gene.</strong> Hum. Molec. Genet. 7: 97-107, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9384609/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9384609</a>] [<a href="https://doi.org/10.1093/hmg/7.1.97" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9384609">Brown et al. (1998)</a> and <a href="#7" class="mim-tip-reference" title="Sargent, C. A.., Boucher, C. A., Kirsch, S., Brown, G., Weiss, B., Trundley, A., Burgoyne, P., Saut, N., Durand, C., Levy, N., Terriou, P., Hargreave, T., Cooke, H., Mitchell, M., Rappold, G. A., Affara, N. A. <strong>The critical region of overlap defining the AZFa male infertility interval of proximal Yq contains three transcribed sequences.</strong> J. Med. Genet. 36: 670-677, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10507722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10507722</a>]" pmid="10507722">Sargent et al. (1999)</a>, whose deletion encompassed both USP9Y and AZFaT1 (see <a href="/entry/400042">400042</a>). <a href="#3" class="mim-tip-reference" title="Foresta, C., Ferlin, A., Moro, E. <strong>Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility.</strong> Hum. Molec. Genet. 9: 1161-1169, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10767340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10767340</a>] [<a href="https://doi.org/10.1093/hmg/9.8.1161" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10767340">Foresta et al. (2000)</a> suggested that the phenotype of patient SAYER, whose testicular biopsy revealed small to moderate numbers of mature spermatozoa and occasional tubules with only spermatids, spermatocytes, or spermatogonia, was due solely to the deletion of USP9Y. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9384609+10507722+10402373+10767340" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a 42-year-old man who underwent spermatologic and genetic analysis as part of an infertility analysis after his partner had a miscarriage, <a href="#5" class="mim-tip-reference" title="Luddi, A., Margollicci, M., Gambera, L., Serafini, F., Cioni, M., De Leo, V., Balestri, P., Piomboni, P. <strong>Spermatogenesis in a man with complete deletion of USP9Y.</strong> New Eng. J. Med. 360: 881-885, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19246359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19246359</a>] [<a href="https://doi.org/10.1056/NEJMoa0806218" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19246359">Luddi et al. (2009)</a> identified a 513,594-bp deletion in the AZFa region of the Y chromosome, with breakpoints located approximately 320,521 bp upstream and 33,465 bp downstream of the USP9Y gene. Spermatologic analysis revealed mild asthenozoospermia, but all other sperm characteristics were within the normal range. His father and brother, who did not undergo spermatologic analysis, were also found to carry the deletion. The authors concluded that USP9Y is not essential for normal sperm production and fertility in humans. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19246359" 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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Brown, G. M., Furlong, R. A., Sargent, C. A., Erickson, R. P., Longepied, G., Mitchell, M., Jones, M. H., Hargreave, T. B., Cooke, H. J., Affara, N. A.
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<strong>Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxr-b interval of the mouse Y chromosome of the Dffry gene.</strong>
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Hum. Molec. Genet. 7: 97-107, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9384609/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9384609</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9384609" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Hum. Reprod. 14: 1710-1716, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10402373/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10402373</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10402373" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility.</strong>
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Hum. Molec. Genet. 9: 1161-1169, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10767340/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10767340</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10767340" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Jones, M. H., Furlong, R. A., Burkin, H., Chalmers, I. J., Brown, G. M., Khwaja, O., Affara, N. A.
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<strong>The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2.</strong>
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Hum. Molec. Genet. 5: 1695-1701, 1996. Note: Erratum: Hum. Molec. Genet. 6: 334-335, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8922996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8922996</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8922996" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/hmg/5.11.1695" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="5" class="mim-anchor"></a>
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<a id="Luddi2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Luddi, A., Margollicci, M., Gambera, L., Serafini, F., Cioni, M., De Leo, V., Balestri, P., Piomboni, P.
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<strong>Spermatogenesis in a man with complete deletion of USP9Y.</strong>
|
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New Eng. J. Med. 360: 881-885, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19246359/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19246359</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19246359" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1056/NEJMoa0806218" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="6" class="mim-anchor"></a>
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<a id="Mendez2016" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mendez, F. L., Poznik, G. D., Castellano, S., Bustamante, C. D.
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<strong>The divergence of Neandertal and modern human Y chromosomes.</strong>
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Am. J. Hum. Genet. 98: 728-734, 2016.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/27058445/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">27058445</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=27058445[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=27058445" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/j.ajhg.2016.02.023" target="_blank">Full Text</a>]
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</p>
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</div>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Sargent1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sargent, C. A.., Boucher, C. A., Kirsch, S., Brown, G., Weiss, B., Trundley, A., Burgoyne, P., Saut, N., Durand, C., Levy, N., Terriou, P., Hargreave, T., Cooke, H., Mitchell, M., Rappold, G. A., Affara, N. A.
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|
<strong>The critical region of overlap defining the AZFa male infertility interval of proximal Yq contains three transcribed sequences.</strong>
|
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J. Med. Genet. 36: 670-677, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10507722/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10507722</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10507722" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Shen2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shen, P., Wang, F., Underhill, P. A., Franco, C., Yang, W.-H., Roxas, A., Sung, R., Lin, A. A., Hyman, R. W., Vollrath, D., Davis, R. W., Cavalli-Sforza, L. L., Oefner, P. J.
|
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<strong>Population genetic implications from sequence variation in four Y chromosome genes.</strong>
|
|
Proc. Nat. Acad. Sci. 97: 7354-7359, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10861003/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10861003</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10861003[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=10861003" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.97.13.7354" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="9" class="mim-anchor"></a>
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<a id="Sun1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Sun, C., Skaletsky, H., Birren, B., Devon, K., Tang, Z., Silber, S., Oates, R., Page, D. C.
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<strong>An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y.</strong>
|
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Nature Genet. 23: 429-432, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10581029/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10581029</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10581029" 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/10.1038/70539" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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<li>
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<a id="10" class="mim-anchor"></a>
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<a id="Thomson2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Thomson, R., Pritchard, J. K., Shen, P., Oefner, P. J., Feldman, M. W.
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<strong>Recent common ancestry of human Y chromosomes: evidence from DNA sequence data.</strong>
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Proc. Nat. Acad. Sci. 97: 7360-7365, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10861004/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10861004</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=10861004[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=10861004" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1073/pnas.97.13.7360" target="_blank">Full Text</a>]
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</p>
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</div>
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</li>
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</ol>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<a id="contributors" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Paul J. Converse - updated : 5/19/2016
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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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Marla J. F. O'Neill - updated : 3/3/2009<br>Marla J. F. O'Neill - updated : 12/14/2004<br>Victor A. McKusick - updated : 8/16/2000<br>George E. Tiller - updated : 6/7/2000<br>Victor A. McKusick - updated : 11/30/1999<br>Victor A. McKusick - updated : 3/26/1998
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Moyra Smith : 1/24/1997
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</span>
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</div>
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</div>
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</div>
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<div>
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<a id="editHistory" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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mgross : 05/19/2016
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</span>
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</div>
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</div>
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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|
mgross : 5/19/2016<br>terry : 8/9/2012<br>alopez : 3/4/2009<br>terry : 3/3/2009<br>carol : 12/21/2004<br>carol : 12/14/2004<br>mgross : 7/8/2004<br>carol : 8/28/2000<br>carol : 8/21/2000<br>terry : 8/16/2000<br>alopez : 6/7/2000<br>alopez : 12/1/1999<br>terry : 11/30/1999<br>terry : 11/30/1999<br>alopez : 2/5/1999<br>alopez : 2/5/1999<br>alopez : 3/26/1998<br>terry : 3/20/1998<br>mark : 1/25/1997<br>terry : 1/24/1997<br>mark : 1/24/1997
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</span>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<div class="container visible-print-block">
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<div class="row">
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<div class="col-md-8 col-md-offset-1">
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<div>
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<div>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 400005
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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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UBIQUITIN-SPECIFIC PROTEASE 9, Y CHROMOSOME; USP9Y
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<div >
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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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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DROSOPHILA FAT FACETS-RELATED, Y-LINKED; DFFRY
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: USP9Y</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
|
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Cytogenetic location: Yq11.221
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Genomic coordinates <span class="small">(GRCh38)</span> : Y:12,701,231-12,860,839 </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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Yq11.221
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</span>
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</td>
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<td>
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<span class="mim-font">
|
|
Spermatogenic failure, Y-linked, 2
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
415000
|
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</span>
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
Y-linked
|
|
</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
3
|
|
</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>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">
|
|
<p>Jones et al. (1996) reported that an expressed sequence tag (EST 221) derived from human adult testis shares homology with the Drosophila fat facets (faf) gene. They detected related sequences on both the human X and Y chromosomes. They used EST 221 to derive clones covering the complete open reading frame of the X-specific locus they termed DFFRX (300072). Y-specific cDNA clones were derived and the corresponding Y-specific locus designated DFFRY. Over the 2 regions corresponding to nucleotides 6 to 1901 and nucleotides 5815 to 7907 of the DFFRX sequence, the X- and Y-specific sequences share 91% and 88% identity, respectively. Both putative gene products contain conserved cysteine and histidine domains that have been described in ubiquitin C-terminal hydrolases (e.g., 191342). Multiple stop codons in the 3-prime region of DFFRY suggested that the Y locus may encode a truncated product or may represent a nonfunctional pseudogene. Jones et al. (1996) detected expression of both DFFRX and DFFRY in developing human tissues. They found also that sequences detected by the EST 221 were widely expressed in adult human tissues. </p><p>Brown et al. (1998) noted that the coding regions of the DFFRY and DFFRX genes show 89% identity at the nucleotide level. In common with DFFRX, the potential amino acid sequence of DFFRY contains the conserved cys and his domains characteristic of ubiquitin C-terminal hydrolases. The human DFFRY mRNA is expressed in a wide range of adult and embryonic tissues, including testis, whereas the homologous mouse Dffry gene is expressed specifically in the testis. </p>
|
|
</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>
|
|
<span class="mim-font">
|
|
<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">
|
|
<p>Jones et al. (1996) mapped DFFRY to Yq11.2 by Southern analysis. </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>
|
|
<span class="mim-font">
|
|
<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>Brown et al. (1998) found that 3 azoospermic male patients had deletion of DFFRY from the Y chromosome. Two patients had a testicular phenotype that resembled Sertoli cell-only type I (see 400042), and the third (patient 'Sayer') had diminished spermatogenesis (see 400005.0002). In all 3 patients, the deletions extended from close to the 3-prime end into the gene, removing the entire coding sequence of DFFRY. Brown et al. (1998) showed that the mouse Dffry gene maps to the Sxr-b deletion interval on the shorter arm of the mouse Y chromosome and that its expression in mouse testis can first be detected between 7.5 and 10.5 days after birth when type A and B spermatogonia and preleptotene and leptotene spermatocytes are present. </p><p>Sargent et al. (1999) refined the deletion breakpoints in 4 patients with AZFa male infertility. All patients had USP9Y and an anonymous EST, AZFaT1, deleted in their entirety, and 3 patients also had DBY (400010) deleted. The 3 patients with AZFaT1, USP9Y, and DBY deleted showed a severe Sertoli cell-only type I phenotype, whereas the patient who had retained DBY (SAYER, originally reported by Brown et al., 1998) showed a milder oligozoospermic phenotype (see 400005.0002). RT-PCR analysis of mouse testis RNA showed that Dby is expressed primarily in somatic cells, while Usp9y is expressed specifically in testis in a germ cell-dependent fashion. </p><p>Sun et al. (1999) were the first to trace spermatogenic failure to a point mutation in a Y-linked gene or to a deletion of a single Y-linked gene. They sequenced the AZFa (see 415000) region of the Y chromosome and identified 2 previously described functional genes: USP9Y and DBY (400010). Screening of the 2 genes in 576 infertile and 96 fertile men revealed several sequence variants, most of which appeared to be heritable and of little functional consequence. They found 1 de novo mutation in USP9Y (400005.0001): a 4-bp deletion in the splice donor site, causing an exon to be skipped and protein truncation. This mutation was present in a man with nonobstructive azoospermia, but was absent in his fertile brother, suggesting that the USP9Y mutation caused spermatogenic failure. Sun et al. (1999) also identified a single gene deletion associated with spermatogenic failure, again involving USP9Y, by reanalyzing the third patient (SAYER) from Brown et al. (1998); see 400005.0002. </p><p>Foresta et al. (2000) described a complete sequence map of the AZFa region, the genomic structure of AZFa genes, and their deletion analysis in 173 infertile men with well-defined spermatogenic alterations. Deletions were found in 9 patients: DBY alone was deleted in 6, USP9Y alone in one (400005.0002), and there was one each with USP9Y-DBY or DBY-UTY (400009) missing. No patients solely lacked UTY. Patients lacking DBY exhibited either Sertoli cell-only syndrome or severe hypospermatogenesis. Expression analysis of AZFa genes and their X homologs revealed ubiquitous expression for all of them except DBY; a shorter DBY transcript was expressed only in testis. The authors suggested that DBY plays a key role in the spermatogenic process. </p><p>In a normospermic man and his brother and father, Luddi et al. (2009) identified a deletion in the AZFa region that encompassed the USP9Y gene (400005.0002). The authors concluded that USP9Y is not essential for normal sperm production and fertility in humans. </p>
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<strong>Evolution</strong>
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<p>In a worldwide sample of human Y chromosomes, Thomson et al. (2000) analyzed DNA sequence variation at 3 Y chromosome genes: SMCY (KDM5D; 426000), DBY, and DFFRY. They used denaturing high-performance liquid chromatography to determine sequence variation at each locus. They focused on estimating the expected time to the most recent common ancestor (TMRCA) and the expected ages of certain mutations with interesting geographic distributions. Although the geographic structure of the inferred haplotype tree was reminiscent of that obtained for other loci (the root is in Africa, and most of the oldest non-African lineages are Asian), the expected TMRCA was found to be remarkably short, on the order of 50,000 years. They estimated that the spread of Y chromosomes out of Africa was much more recent than previously thought. Their data also indicated substantial population growth in the effective number of different human Y chromosomes. </p><p>By use of denaturing HPLC, Shen et al. (2000) screened the DFFRY, SMCY, DBY, and UTY1 genes for polymorphic markers in males representative of the 5 continents. Nucleotide diversity was found in the coding regions of 3 of the genes but was not observed in DBY. In agreement with most autosomal genes, diversity estimates for the noncoding regions were about 2- to 3-fold higher than those for coding regions. Pairwise nucleotide mismatch distributions dated the occurrence of population expansion to approximately 28,000 years ago. </p><p>Mendez et al. (2016) compared approximately 120 kb of exome-captured Y-chromosome DNA from a Neandertal male from Spain with orthologous chimpanzee and modern human sequences. They found support for a model that placed the Neandertal lineage as an outgroup to modern human Y chromosomes, including A00, the highly divergent basal haplogroup. The authors estimated that the TMRCA of Neandertal and modern human Y chromosomes was approximately 588,000 years ago, approximately 2 times longer than the TMRCA of A00 and other extant modern human Y-chromosome lineages. The estimate suggested that the Y-chromosome divergence mirrored the population divergence of Neandertals, whose Y sequence is not found in modern humans, and modern human ancestors. Notable coding differences between Neandertal and modern human Y chromosomes included potentially damaging changes to PCDH11Y (400022), TMSB4Y (400017), USP9Y, and KDM5D. Three of these changes occurred in genes that produce male-specific minor histocompatibility (H-Y) antigens that may elicit a maternal immune response during gestation. The authors hypothesized that the incompatibilities at 1 or more of these genes may have played a role in the reproductive isolation of the 2 groups. </p>
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<strong>ALLELIC VARIANTS</strong>
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<strong>2 Selected Examples):</strong>
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<span class="mim-font">
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<strong>.0001 AZOOSPERMIA, NONOBSTRUCTIVE, Y-LINKED</strong>
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USP9Y, IVS7DS, 4-BP DEL
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SNP: rs778145751,
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gnomAD: rs778145751,
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ClinVar: RCV000010411
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<p>In an azoospermic (415000) and infertile but otherwise healthy male, Sun et al. (1999) discovered a 4-bp deletion in the splice donor site of USP9Y intron 7. The deletion was not present in the man's brother, who had fathered 2 children. The men were found to share a rare Y haplotype not reported previously. These findings suggested that the 2 men inherited the same Y chromosome apart from what was evidently a de novo USP9Y mutation in the azoospermic man. The splice site deletion predicted the skipping of exon 7, shifting the reading frame and causing USP9Y to be truncated by approximately 90%. This was confirmed by sizing and sequencing of the RT-PCR product in the proband and his brother. The splice site/frameshift mutation, falling near the 5-prime end of the USP9Y coding sequence, was expected to result in the loss of USP9Y function. A testicular biopsy of the patient revealed hypospermatogenesis with spermatogenic arrest. </p>
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<span class="mim-font">
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<strong>.0002 HYPOSPERMATOGENESIS, NONOBSTRUCTIVE, Y-LINKED</strong>
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USP9Y, DEL
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ClinVar: RCV000010412
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<p>In a patient with hypospermatogenesis (400042), previously studied by Ferlin et al. (1999), Foresta et al. (2000) reported a deletion of the entire USP9Y coding region. The testicular phenotype was identical to that of a patient (SAYER), earlier reported by Brown et al. (1998) and Sargent et al. (1999), whose deletion encompassed both USP9Y and AZFaT1 (see 400042). Foresta et al. (2000) suggested that the phenotype of patient SAYER, whose testicular biopsy revealed small to moderate numbers of mature spermatozoa and occasional tubules with only spermatids, spermatocytes, or spermatogonia, was due solely to the deletion of USP9Y. </p><p>In a 42-year-old man who underwent spermatologic and genetic analysis as part of an infertility analysis after his partner had a miscarriage, Luddi et al. (2009) identified a 513,594-bp deletion in the AZFa region of the Y chromosome, with breakpoints located approximately 320,521 bp upstream and 33,465 bp downstream of the USP9Y gene. Spermatologic analysis revealed mild asthenozoospermia, but all other sperm characteristics were within the normal range. His father and brother, who did not undergo spermatologic analysis, were also found to carry the deletion. The authors concluded that USP9Y is not essential for normal sperm production and fertility in humans. </p>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<ol>
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<p class="mim-text-font">
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Brown, G. M., Furlong, R. A., Sargent, C. A., Erickson, R. P., Longepied, G., Mitchell, M., Jones, M. H., Hargreave, T. B., Cooke, H. J., Affara, N. A.
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<strong>Characterisation of the coding sequence and fine mapping of the human DFFRY gene and comparative expression analysis and mapping to the Sxr-b interval of the mouse Y chromosome of the Dffry gene.</strong>
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Hum. Molec. Genet. 7: 97-107, 1998.
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[PubMed: 9384609]
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[Full Text: https://doi.org/10.1093/hmg/7.1.97]
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<p class="mim-text-font">
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Ferlin, A., Moro, E., Garolla, A., Foresta, C.
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<strong>Human male infertility and Y chromosome deletions: role of the AZF-candidate genes DAZ, RBM and DFFRY.</strong>
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Hum. Reprod. 14: 1710-1716, 1999.
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[PubMed: 10402373]
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[Full Text: https://doi.org/10.1093/humrep/14.7.1710]
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<p class="mim-text-font">
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Foresta, C., Ferlin, A., Moro, E.
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<strong>Deletion and expression analysis of AZFa genes on the human Y chromosome revealed a major role for DBY in male infertility.</strong>
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Hum. Molec. Genet. 9: 1161-1169, 2000.
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[PubMed: 10767340]
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[Full Text: https://doi.org/10.1093/hmg/9.8.1161]
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Jones, M. H., Furlong, R. A., Burkin, H., Chalmers, I. J., Brown, G. M., Khwaja, O., Affara, N. A.
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<strong>The Drosophila developmental gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2.</strong>
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Hum. Molec. Genet. 5: 1695-1701, 1996. Note: Erratum: Hum. Molec. Genet. 6: 334-335, 1997.
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[PubMed: 8922996]
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[Full Text: https://doi.org/10.1093/hmg/5.11.1695]
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<p class="mim-text-font">
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Luddi, A., Margollicci, M., Gambera, L., Serafini, F., Cioni, M., De Leo, V., Balestri, P., Piomboni, P.
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<strong>Spermatogenesis in a man with complete deletion of USP9Y.</strong>
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New Eng. J. Med. 360: 881-885, 2009.
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[PubMed: 19246359]
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[Full Text: https://doi.org/10.1056/NEJMoa0806218]
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<p class="mim-text-font">
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Mendez, F. L., Poznik, G. D., Castellano, S., Bustamante, C. D.
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<strong>The divergence of Neandertal and modern human Y chromosomes.</strong>
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Am. J. Hum. Genet. 98: 728-734, 2016.
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[PubMed: 27058445]
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[Full Text: https://doi.org/10.1016/j.ajhg.2016.02.023]
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Sargent, C. A.., Boucher, C. A., Kirsch, S., Brown, G., Weiss, B., Trundley, A., Burgoyne, P., Saut, N., Durand, C., Levy, N., Terriou, P., Hargreave, T., Cooke, H., Mitchell, M., Rappold, G. A., Affara, N. A.
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<strong>The critical region of overlap defining the AZFa male infertility interval of proximal Yq contains three transcribed sequences.</strong>
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J. Med. Genet. 36: 670-677, 1999.
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[PubMed: 10507722]
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Shen, P., Wang, F., Underhill, P. A., Franco, C., Yang, W.-H., Roxas, A., Sung, R., Lin, A. A., Hyman, R. W., Vollrath, D., Davis, R. W., Cavalli-Sforza, L. L., Oefner, P. J.
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<strong>Population genetic implications from sequence variation in four Y chromosome genes.</strong>
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Proc. Nat. Acad. Sci. 97: 7354-7359, 2000.
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[PubMed: 10861003]
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[Full Text: https://doi.org/10.1073/pnas.97.13.7354]
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Sun, C., Skaletsky, H., Birren, B., Devon, K., Tang, Z., Silber, S., Oates, R., Page, D. C.
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<strong>An azoospermic man with a de novo point mutation in the Y-chromosomal gene USP9Y.</strong>
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Nature Genet. 23: 429-432, 1999.
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[PubMed: 10581029]
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[Full Text: https://doi.org/10.1038/70539]
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Thomson, R., Pritchard, J. K., Shen, P., Oefner, P. J., Feldman, M. W.
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<strong>Recent common ancestry of human Y chromosomes: evidence from DNA sequence data.</strong>
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Proc. Nat. Acad. Sci. 97: 7360-7365, 2000.
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[PubMed: 10861004]
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[Full Text: https://doi.org/10.1073/pnas.97.13.7360]
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<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
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Contributors:
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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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Paul J. Converse - updated : 5/19/2016<br>Marla J. F. O'Neill - updated : 3/3/2009<br>Marla J. F. O'Neill - updated : 12/14/2004<br>Victor A. McKusick - updated : 8/16/2000<br>George E. Tiller - updated : 6/7/2000<br>Victor A. McKusick - updated : 11/30/1999<br>Victor A. McKusick - updated : 3/26/1998
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<span class="text-nowrap mim-text-font">
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Moyra Smith : 1/24/1997
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Edit History:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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mgross : 05/19/2016<br>mgross : 5/19/2016<br>terry : 8/9/2012<br>alopez : 3/4/2009<br>terry : 3/3/2009<br>carol : 12/21/2004<br>carol : 12/14/2004<br>mgross : 7/8/2004<br>carol : 8/28/2000<br>carol : 8/21/2000<br>terry : 8/16/2000<br>alopez : 6/7/2000<br>alopez : 12/1/1999<br>terry : 11/30/1999<br>terry : 11/30/1999<br>alopez : 2/5/1999<br>alopez : 2/5/1999<br>alopez : 3/26/1998<br>terry : 3/20/1998<br>mark : 1/25/1997<br>terry : 1/24/1997<br>mark : 1/24/1997
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