2408 lines
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Entry
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- *480100 - TESTIS-SPECIFIC PROTEIN, Y-LINKED, 1; TSPY1
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- OMIM
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<p>
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<span class="h4">*480100</span>
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<br />
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<strong>Table of Contents</strong>
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</p>
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<nav>
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<li role="presentation">
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<a href="#title"><strong>Title</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>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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</li>
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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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<li role="presentation" style="margin-left: 1em">
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<a href="#evolution">Evolution</a>
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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<div class="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 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=ENSG00000258992;t=ENST00000451548" 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=7258" 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=480100" 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=ENSG00000258992;t=ENST00000451548" 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_001197242,NM_001320964,NM_003308,XM_017030064,XR_001756005" 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_003308" 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=480100" 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=11852&isoform_id=11852_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/TSPY1" 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/292429,340009,1333690,1932825,133778079,139948460,308522758,332278243,1004170702,1034676338,1834302902,1834302930,1836506066,1841764907,2217560501,2462499792" 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/Q01534" 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=7258" 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=ENSG00000258992;t=ENST00000451548" 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=TSPY1" 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=TSPY1" 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+7258" 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/TSPY1" 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:7258" 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/7258" 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=ENST00000451548.6&hgg_start=9466955&hgg_end=9469749&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="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=480100[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/ENSG00000258992" 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=TSPY1" 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="https://www.pharmgkb.org/gene/PA37049" 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><a href="http://v1.marrvel.org/search/gene/TSPY1#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="https://wormbase.org/db/gene/gene?name=WBGene00005007;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-030131-9158" 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><a href="https://reactome.org/content/query?q=TSPY1&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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<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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480100
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TESTIS-SPECIFIC PROTEIN, Y-LINKED, 1; TSPY1
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TSPY
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=TSPY1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">TSPY1</a></em></strong>
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Cytogenetic location: <a href="/geneMap/Y/21?start=-3&limit=10&highlight=21">Yp11.2</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrY:9466955-9469749&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:9,466,955-9,469,749</a> </span>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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<strong>Cloning and Expression</strong>
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<p>Y-encoded testis-specific protein is restricted to testicular tissue (<a href="#1" class="mim-tip-reference" title="Arnemann, J., Epplen, J. T., Cooke, H. J., Sauermann, U., Engel, W., Schmidtke, J. <strong>A human Y-chromosomal DNA sequence expressed in testicular tissue.</strong> Nucleic Acids Res. 15: 8713-8724, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3479749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3479749</a>] [<a href="https://doi.org/10.1093/nar/15.21.8713" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3479749">Arnemann et al., 1987</a>; <a href="#2" class="mim-tip-reference" title="Arnemann, J., Jakubiczka, S., Thuring, S., Schmidtke, J. <strong>Cloning and sequence analysis of a human Y-chromosome-derived, testicular cDNA, TSPY.</strong> Genomics 11: 108-114, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1765369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1765369</a>] [<a href="https://doi.org/10.1016/0888-7543(91)90107-p" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1765369">Arnemann et al., 1991</a>; <a href="#12" class="mim-tip-reference" title="Zhang, J. S., Yang-Feng, T. L., Muller, U., Mohandas, T. K., de Jong, P. J., Lau, Y.-F. C. <strong>Molecular isolation and characterization of an expressed gene from the human Y-chromosome.</strong> Hum. Molec. Genet. 1: 717-726, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1284595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1284595</a>] [<a href="https://doi.org/10.1093/hmg/1.9.717" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1284595">Zhang et al., 1992</a>). Multiple TSPY sequences were shown by <a href="#7" class="mim-tip-reference" title="Manz, E., Schnieders, F., Brechlin, A. M., Schmidtke, J. <strong>TSPY-related sequences represent a microheterogeneous gene family organized as constitutive elements in DYZ5 tandem repeat units on the human Y chromosome.</strong> Genomics 17: 726-731, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8244388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8244388</a>] [<a href="https://doi.org/10.1006/geno.1993.1393" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8244388">Manz et al. (1993)</a> to be constitutive parts of DYZ5 repeat units. (The 'Z,' in place of 'S,' in the 'D number' indicates that it refers to repetitive DNA.) <a href="#7" class="mim-tip-reference" title="Manz, E., Schnieders, F., Brechlin, A. M., Schmidtke, J. <strong>TSPY-related sequences represent a microheterogeneous gene family organized as constitutive elements in DYZ5 tandem repeat units on the human Y chromosome.</strong> Genomics 17: 726-731, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8244388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8244388</a>] [<a href="https://doi.org/10.1006/geno.1993.1393" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8244388">Manz et al. (1993)</a> demonstrated microheterogeneity among transcribed and nontranscribed members of the TSPY family. Furthermore, evidence that several splice variants of TSPY transcripts occur was presented. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1765369+1284595+8244388+3479749" 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="Schnieders, F., Dork, T., Arnemann, J., Vogel, T., Werner, M., Schmidtke, J. <strong>Testis-specific protein, Y-encoded (TSPY) expression in testicular tissues.</strong> Hum. Molec. Genet. 5: 1801-1807, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8923009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8923009</a>] [<a href="https://doi.org/10.1093/hmg/5.11.1801" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8923009">Schnieders et al. (1996)</a> reported that TSPY gives rise to a pool of heterogeneously composed transcripts, at least 1 of which yields a protein that is a member of a superfamily including the protooncogene SET (<a href="/entry/600960">600960</a>) and NAP1 (<a href="/entry/164060">164060</a>), a nucleosome assembly factor. Immunohistologic studies reported by <a href="#9" class="mim-tip-reference" title="Schnieders, F., Dork, T., Arnemann, J., Vogel, T., Werner, M., Schmidtke, J. <strong>Testis-specific protein, Y-encoded (TSPY) expression in testicular tissues.</strong> Hum. Molec. Genet. 5: 1801-1807, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8923009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8923009</a>] [<a href="https://doi.org/10.1093/hmg/5.11.1801" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8923009">Schnieders et al. (1996)</a> revealed that TSPY is concentrated in the cytoplasm of spermatogonia in normal as well as in pathologic tissue. They further reported that TSPY was found in the early forms of seminomatous testicular tumors. The authors suggested that TSPY function is related to spermatogonial proliferation in a phosphorylation-dependent manner. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8923009" 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="#4" class="mim-tip-reference" title="Jakubiczka, S., Schnieders, F., Schmidtke, J. <strong>A bovine homologue of the human TSPY gene.</strong> Genomics 17: 732-735, 1993. Note: Erratum: Genomics 19: 198 only, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8244389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8244389</a>] [<a href="https://doi.org/10.1006/geno.1993.1394" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8244389">Jakubiczka et al. (1993)</a> isolated the bovine homolog of the human TSPY gene. The 2 proteins share 45% sequence identity. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8244389" 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>From M. musculus testicular cDNA, <a href="#11" class="mim-tip-reference" title="Vogel, T., Boettger-Tong, H., Nanda, I., Dechend, F., Agulnik, A. I., Bishop, C. E., Schmid, M., Schmidtke, J. <strong>A murine TSPY.</strong> Chromosome Res. 6: 35-40, 1998. Note: Erratum: Chromosome Res. 6: 241 only, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9510508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9510508</a>] [<a href="https://doi.org/10.1023/a:1009214307764" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9510508">Vogel et al. (1998)</a> isolated sequences homologous to human and bovine TSPY and amplified a nearly full-length gene by PCR from mouse genomic DNA. They showed that the gene is present in single copy and apparently nonfunctional. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9510508" 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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<span id="mimGeneFunctionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<strong>Gene Function</strong>
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<p><a href="#6" class="mim-tip-reference" title="Lau, Y.-F. C. <strong>Sex chromosome genetics '99: gonadoblastoma, testicular and prostate cancers, and the TSPY gene.</strong> Am. J. Hum. Genet. 64: 921-927, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10090875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10090875</a>] [<a href="https://doi.org/10.1086/302353" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10090875">Lau (1999)</a> discussed the possible role of the TSPY gene in gonadoblastoma (GBY; <a href="/entry/424500">424500</a>) and in testicular and prostate cancers. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10090875" 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="#9" class="mim-tip-reference" title="Schnieders, F., Dork, T., Arnemann, J., Vogel, T., Werner, M., Schmidtke, J. <strong>Testis-specific protein, Y-encoded (TSPY) expression in testicular tissues.</strong> Hum. Molec. Genet. 5: 1801-1807, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8923009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8923009</a>] [<a href="https://doi.org/10.1093/hmg/5.11.1801" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8923009">Schnieders et al. (1996)</a> stated that the TSPY gene cluster is located on proximal chromosome Yp. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8923009" 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>Figure 1 of <a href="#6" class="mim-tip-reference" title="Lau, Y.-F. C. <strong>Sex chromosome genetics '99: gonadoblastoma, testicular and prostate cancers, and the TSPY gene.</strong> Am. J. Hum. Genet. 64: 921-927, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10090875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10090875</a>] [<a href="https://doi.org/10.1086/302353" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10090875">Lau (1999)</a> presented an updated map of genes assigned to the Y chromosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10090875" 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="#5" class="mim-tip-reference" title="Jobling, M. A., Lo, I. C. C., Turner, D. J., Bowden, G. R., Lee, A. C., Xue, Y., Carvalho-Silva, D., Hurles, M. E., Adams, S. M., Chang, Y. M., Kraaijenbrink, T., Henke, J., Guanti, G., McKeown, B., van Oorschot, R. A. H., Mitchell, R. J., de Knijff, P., Tyler-Smith, C., Parkin, E. J. <strong>Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y.</strong> Hum. Molec. Genet. 16: 307-316, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17189292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17189292</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17189292[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddl465" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17189292">Jobling et al. (2007)</a> noted that the Y chromosome reference database sequence (build 36.1) places a single copy of the TSPY gene on chromosome Yp more than 3 Mb telomeric to the major TSPY repeat array. The AMELY (<a href="/entry/410000">410000</a>), TBL1Y (<a href="/entry/400033">400033</a>), and PRKY (<a href="/entry/400008">400008</a>) genes lie within the intervening sequence. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17189292" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using a combination of STS deletion mapping, binary marker and Y-short tandem repeat haplotyping, and TSPY copy number estimation, <a href="#5" class="mim-tip-reference" title="Jobling, M. A., Lo, I. C. C., Turner, D. J., Bowden, G. R., Lee, A. C., Xue, Y., Carvalho-Silva, D., Hurles, M. E., Adams, S. M., Chang, Y. M., Kraaijenbrink, T., Henke, J., Guanti, G., McKeown, B., van Oorschot, R. A. H., Mitchell, R. J., de Knijff, P., Tyler-Smith, C., Parkin, E. J. <strong>Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y.</strong> Hum. Molec. Genet. 16: 307-316, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17189292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17189292</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17189292[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddl465" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17189292">Jobling et al. (2007)</a> identified 4 distinct classes of deletions affecting chromosome Yp in 45 males from 12 different populations. The most common deletion class was found in 41 Y chromosomes (91%) and appeared to be caused by TSPY-mediated recombination that resulted in loss of the AMELY, TBL1Y, and PRKY genes and a reduced TSPY copy number in the TSPY repeat array. The persistence and expansion of deletion lineages, together with phenotypic evidence, suggested that absence of these genes has no major deleterious effects. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17189292" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Shen, Y., Yan, Y., Liu, Y., Zhang, S., Yang, D., Zhang, P., Li, L., Wang, Y., Ma, Y., Tao, D., Yang, Y. <strong>A significant effect of the TSPY1 copy number on spermatogenesis efficiency and the phenotypic expression of the gr/gr deletion.</strong> Hum. Molec. Genet. 22: 1679-1695, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23307928/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23307928</a>] [<a href="https://doi.org/10.1093/hmg/ddt004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23307928">Shen et al. (2013)</a> analyzed TSPY1 copy number in 2,272 unrelated Han Chinese men, including 216 b2/b4-deleted patients with severe oligozoospermia, cryptozoospermia, or azoospermia; 326 gr/gr-deleted men with impaired spermatogenesis and 162 gr/gr-deleted controls with normozoospermia; and 870 spermatogenesis-impaired men without AZFc deletions and 698 non-AZFc-deleted controls with normozoospermia. TSPY1 copy number distributions were significantly different among non-AZFc-deleted men with different spermatogenic phenotypes; lower sperm production and an elevated risk of spermatogenic failure were observed in males with fewer than 21 TSPY1 copies and in those with more than 55 copies, compared to men with 21 to 55 copies. Similar results were observed in men with the gr/gr deletion. <a href="#10" class="mim-tip-reference" title="Shen, Y., Yan, Y., Liu, Y., Zhang, S., Yang, D., Zhang, P., Li, L., Wang, Y., Ma, Y., Tao, D., Yang, Y. <strong>A significant effect of the TSPY1 copy number on spermatogenesis efficiency and the phenotypic expression of the gr/gr deletion.</strong> Hum. Molec. Genet. 22: 1679-1695, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23307928/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23307928</a>] [<a href="https://doi.org/10.1093/hmg/ddt004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23307928">Shen et al. (2013)</a> concluded that TSPY1 copy number variation (CNV) affects susceptibility to spermatogenic failure by modulating the efficiency of spermatogenesis. The authors suggested that the TSPY1 copy number has a significant quantity effect on the phenotype of the gr/gr deletion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23307928" 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="#3" class="mim-tip-reference" title="Guttenbach, M., Muller, U., Schmid, M. <strong>A human moderately repeated Y-specific DNA sequence is evolutionarily conserved in the Y chromosome of the great apes.</strong> Genomics 13: 363-367, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1612595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1612595</a>] [<a href="https://doi.org/10.1016/0888-7543(92)90254-p" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1612595">Guttenbach et al. (1992)</a> demonstrated conservation of DYZ5-homologous sequences on the Y chromosome of primates. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1612595" 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>TSPY genes must have been selectively maintained on the mammalian Y chromosome since before the radiation of eutheria, 80 million years ago, as they are found conserved on the Y chromosome in 2 mammalian orders: primate and artiodactyl. <a href="#8" class="mim-tip-reference" title="Mazeyrat, S., Mitchell, M. J. <strong>Rodent Y chromosome TSPY gene is functional in rat and non-functional in mouse.</strong> Hum. Molec. Genet. 7: 557-562, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9467017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9467017</a>] [<a href="https://doi.org/10.1093/hmg/7.3.557" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9467017">Mazeyrat and Mitchell (1998)</a> identified TSPY on the mouse and rat Y chromosome. The gene structure and expression of rat TSPY suggested that it is a functional, testis-specific gene, but the closely related mouse gene, Tspy, has clearly become nonfunctional, producing only low levels of aberrantly spliced transcripts. Thus, TSPY lost its function in the mouse lineage after its divergence from the rat lineage. These observations appeared to support the impression that recombination prevents genetic deterioration in sexual populations because it allows conservation of functional genotypes by removing deleterious mutations. The absence of recombination may have led to the loss of a functional Tspy gene in the mouse. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9467017" 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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Arnemann, J., Epplen, J. T., Cooke, H. J., Sauermann, U., Engel, W., Schmidtke, J.
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<strong>A human Y-chromosomal DNA sequence expressed in testicular tissue.</strong>
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Nucleic Acids Res. 15: 8713-8724, 1987.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3479749/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3479749</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3479749" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1093/nar/15.21.8713" target="_blank">Full Text</a>]
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Arnemann, J., Jakubiczka, S., Thuring, S., Schmidtke, J.
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<strong>Cloning and sequence analysis of a human Y-chromosome-derived, testicular cDNA, TSPY.</strong>
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Genomics 11: 108-114, 1991.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1765369/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1765369</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1765369" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0888-7543(91)90107-p" target="_blank">Full Text</a>]
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<strong>A human moderately repeated Y-specific DNA sequence is evolutionarily conserved in the Y chromosome of the great apes.</strong>
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Genomics 13: 363-367, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1612595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1612595</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1612595" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1016/0888-7543(92)90254-p" target="_blank">Full Text</a>]
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Jakubiczka, S., Schnieders, F., Schmidtke, J.
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<strong>A bovine homologue of the human TSPY gene.</strong>
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Genomics 17: 732-735, 1993. Note: Erratum: Genomics 19: 198 only, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8244389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8244389</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8244389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1993.1394" target="_blank">Full Text</a>]
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Jobling, M. A., Lo, I. C. C., Turner, D. J., Bowden, G. R., Lee, A. C., Xue, Y., Carvalho-Silva, D., Hurles, M. E., Adams, S. M., Chang, Y. M., Kraaijenbrink, T., Henke, J., Guanti, G., McKeown, B., van Oorschot, R. A. H., Mitchell, R. J., de Knijff, P., Tyler-Smith, C., Parkin, E. J.
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<strong>Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y.</strong>
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Hum. Molec. Genet. 16: 307-316, 2007.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17189292/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17189292</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17189292[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=17189292" 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/ddl465" target="_blank">Full Text</a>]
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<a id="6" class="mim-anchor"></a>
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<a id="Lau1999" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Lau, Y.-F. C.
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<strong>Sex chromosome genetics '99: gonadoblastoma, testicular and prostate cancers, and the TSPY gene.</strong>
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Am. J. Hum. Genet. 64: 921-927, 1999.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10090875/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10090875</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10090875" 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/10.1086/302353" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="7" class="mim-anchor"></a>
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<a id="Manz1993" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Manz, E., Schnieders, F., Brechlin, A. M., Schmidtke, J.
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<strong>TSPY-related sequences represent a microheterogeneous gene family organized as constitutive elements in DYZ5 tandem repeat units on the human Y chromosome.</strong>
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Genomics 17: 726-731, 1993.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8244388/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8244388</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8244388" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1006/geno.1993.1393" target="_blank">Full Text</a>]
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</p>
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<li>
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<a id="8" class="mim-anchor"></a>
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<a id="Mazeyrat1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Mazeyrat, S., Mitchell, M. J.
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<strong>Rodent Y chromosome TSPY gene is functional in rat and non-functional in mouse.</strong>
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Hum. Molec. Genet. 7: 557-562, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9467017/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9467017</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9467017" 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/7.3.557" target="_blank">Full Text</a>]
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<a id="9" class="mim-anchor"></a>
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<a id="Schnieders1996" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Schnieders, F., Dork, T., Arnemann, J., Vogel, T., Werner, M., Schmidtke, J.
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<strong>Testis-specific protein, Y-encoded (TSPY) expression in testicular tissues.</strong>
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Hum. Molec. Genet. 5: 1801-1807, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8923009/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8923009</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8923009" 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/5.11.1801" target="_blank">Full Text</a>]
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<a id="10" class="mim-anchor"></a>
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<a id="Shen2013" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shen, Y., Yan, Y., Liu, Y., Zhang, S., Yang, D., Zhang, P., Li, L., Wang, Y., Ma, Y., Tao, D., Yang, Y.
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<strong>A significant effect of the TSPY1 copy number on spermatogenesis efficiency and the phenotypic expression of the gr/gr deletion.</strong>
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Hum. Molec. Genet. 22: 1679-1695, 2013.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23307928/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23307928</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23307928" 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/ddt004" target="_blank">Full Text</a>]
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<a id="11" class="mim-anchor"></a>
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<a id="Vogel1998" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Vogel, T., Boettger-Tong, H., Nanda, I., Dechend, F., Agulnik, A. I., Bishop, C. E., Schmid, M., Schmidtke, J.
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<strong>A murine TSPY.</strong>
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Chromosome Res. 6: 35-40, 1998. Note: Erratum: Chromosome Res. 6: 241 only, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9510508/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9510508</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9510508" 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/10.1023/a:1009214307764" target="_blank">Full Text</a>]
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<li>
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<a id="12" class="mim-anchor"></a>
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<a id="Zhang1992" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Zhang, J. S., Yang-Feng, T. L., Muller, U., Mohandas, T. K., de Jong, P. J., Lau, Y.-F. C.
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<strong>Molecular isolation and characterization of an expressed gene from the human Y-chromosome.</strong>
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Hum. Molec. Genet. 1: 717-726, 1992.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1284595/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1284595</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1284595" 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/1.9.717" target="_blank">Full Text</a>]
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</ol>
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<br />
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Marla J. F. O'Neill - updated : 2/18/2014
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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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Patricia A. Hartz - updated : 6/25/2010<br>Victor A. McKusick - updated : 4/8/1999<br>Victor A. McKusick - updated : 8/17/1998<br>Victor A. McKusick - updated : 4/24/1998<br>Moyra Smith - updated : 1/29/1997<br>Alan F. Scott - updated : 2/12/1996
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<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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Victor A. McKusick : 9/22/1993
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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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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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carol : 02/19/2014
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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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mcolton : 2/18/2014<br>carol : 3/15/2013<br>terry : 12/20/2012<br>mgross : 7/2/2010<br>mgross : 7/2/2010<br>terry : 6/25/2010<br>mgross : 10/29/2003<br>carol : 4/8/1999<br>terry : 8/17/1998<br>carol : 4/24/1998<br>terry : 4/14/1998<br>mark : 1/30/1997<br>terry : 1/29/1997<br>mark : 1/28/1997<br>terry : 4/17/1996<br>mark : 2/12/1996<br>mimadm : 3/11/1994<br>carol : 10/11/1993<br>carol : 9/22/1993
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</span>
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<h3>
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<span class="mim-font">
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<strong>*</strong> 480100
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<h3>
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TESTIS-SPECIFIC PROTEIN, Y-LINKED, 1; TSPY1
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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<span class="mim-font">
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TSPY
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<strong><em>HGNC Approved Gene Symbol: TSPY1</em></strong>
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<strong>
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<em>
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Cytogenetic location: Yp11.2
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Genomic coordinates <span class="small">(GRCh38)</span> : Y:9,466,955-9,469,749 </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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<strong>TEXT</strong>
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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 class="mim-text-font">
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<p>Y-encoded testis-specific protein is restricted to testicular tissue (Arnemann et al., 1987; Arnemann et al., 1991; Zhang et al., 1992). Multiple TSPY sequences were shown by Manz et al. (1993) to be constitutive parts of DYZ5 repeat units. (The 'Z,' in place of 'S,' in the 'D number' indicates that it refers to repetitive DNA.) Manz et al. (1993) demonstrated microheterogeneity among transcribed and nontranscribed members of the TSPY family. Furthermore, evidence that several splice variants of TSPY transcripts occur was presented. </p><p>Schnieders et al. (1996) reported that TSPY gives rise to a pool of heterogeneously composed transcripts, at least 1 of which yields a protein that is a member of a superfamily including the protooncogene SET (600960) and NAP1 (164060), a nucleosome assembly factor. Immunohistologic studies reported by Schnieders et al. (1996) revealed that TSPY is concentrated in the cytoplasm of spermatogonia in normal as well as in pathologic tissue. They further reported that TSPY was found in the early forms of seminomatous testicular tumors. The authors suggested that TSPY function is related to spermatogonial proliferation in a phosphorylation-dependent manner. </p><p>Jakubiczka et al. (1993) isolated the bovine homolog of the human TSPY gene. The 2 proteins share 45% sequence identity. </p><p>From M. musculus testicular cDNA, Vogel et al. (1998) isolated sequences homologous to human and bovine TSPY and amplified a nearly full-length gene by PCR from mouse genomic DNA. They showed that the gene is present in single copy and apparently nonfunctional. </p>
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<strong>Gene Function</strong>
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<p>Lau (1999) discussed the possible role of the TSPY gene in gonadoblastoma (GBY; 424500) and in testicular and prostate cancers. </p>
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<strong>Mapping</strong>
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<span class="mim-text-font">
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<p>Schnieders et al. (1996) stated that the TSPY gene cluster is located on proximal chromosome Yp. </p><p>Figure 1 of Lau (1999) presented an updated map of genes assigned to the Y chromosome. </p><p>Jobling et al. (2007) noted that the Y chromosome reference database sequence (build 36.1) places a single copy of the TSPY gene on chromosome Yp more than 3 Mb telomeric to the major TSPY repeat array. The AMELY (410000), TBL1Y (400033), and PRKY (400008) genes lie within the intervening sequence. </p>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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<span class="mim-text-font">
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<p>Using a combination of STS deletion mapping, binary marker and Y-short tandem repeat haplotyping, and TSPY copy number estimation, Jobling et al. (2007) identified 4 distinct classes of deletions affecting chromosome Yp in 45 males from 12 different populations. The most common deletion class was found in 41 Y chromosomes (91%) and appeared to be caused by TSPY-mediated recombination that resulted in loss of the AMELY, TBL1Y, and PRKY genes and a reduced TSPY copy number in the TSPY repeat array. The persistence and expansion of deletion lineages, together with phenotypic evidence, suggested that absence of these genes has no major deleterious effects. </p><p>Shen et al. (2013) analyzed TSPY1 copy number in 2,272 unrelated Han Chinese men, including 216 b2/b4-deleted patients with severe oligozoospermia, cryptozoospermia, or azoospermia; 326 gr/gr-deleted men with impaired spermatogenesis and 162 gr/gr-deleted controls with normozoospermia; and 870 spermatogenesis-impaired men without AZFc deletions and 698 non-AZFc-deleted controls with normozoospermia. TSPY1 copy number distributions were significantly different among non-AZFc-deleted men with different spermatogenic phenotypes; lower sperm production and an elevated risk of spermatogenic failure were observed in males with fewer than 21 TSPY1 copies and in those with more than 55 copies, compared to men with 21 to 55 copies. Similar results were observed in men with the gr/gr deletion. Shen et al. (2013) concluded that TSPY1 copy number variation (CNV) affects susceptibility to spermatogenic failure by modulating the efficiency of spermatogenesis. The authors suggested that the TSPY1 copy number has a significant quantity effect on the phenotype of the gr/gr deletion. </p>
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<h4>
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<span class="mim-font">
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<strong>Evolution</strong>
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<p>Guttenbach et al. (1992) demonstrated conservation of DYZ5-homologous sequences on the Y chromosome of primates. </p><p>TSPY genes must have been selectively maintained on the mammalian Y chromosome since before the radiation of eutheria, 80 million years ago, as they are found conserved on the Y chromosome in 2 mammalian orders: primate and artiodactyl. Mazeyrat and Mitchell (1998) identified TSPY on the mouse and rat Y chromosome. The gene structure and expression of rat TSPY suggested that it is a functional, testis-specific gene, but the closely related mouse gene, Tspy, has clearly become nonfunctional, producing only low levels of aberrantly spliced transcripts. Thus, TSPY lost its function in the mouse lineage after its divergence from the rat lineage. These observations appeared to support the impression that recombination prevents genetic deterioration in sexual populations because it allows conservation of functional genotypes by removing deleterious mutations. The absence of recombination may have led to the loss of a functional Tspy gene in the mouse. </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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Arnemann, J., Epplen, J. T., Cooke, H. J., Sauermann, U., Engel, W., Schmidtke, J.
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<strong>A human Y-chromosomal DNA sequence expressed in testicular tissue.</strong>
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Nucleic Acids Res. 15: 8713-8724, 1987.
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[PubMed: 3479749]
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[Full Text: https://doi.org/10.1093/nar/15.21.8713]
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<p class="mim-text-font">
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Arnemann, J., Jakubiczka, S., Thuring, S., Schmidtke, J.
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<strong>Cloning and sequence analysis of a human Y-chromosome-derived, testicular cDNA, TSPY.</strong>
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Genomics 11: 108-114, 1991.
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[PubMed: 1765369]
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[Full Text: https://doi.org/10.1016/0888-7543(91)90107-p]
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</p>
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<li>
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<p class="mim-text-font">
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Guttenbach, M., Muller, U., Schmid, M.
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<strong>A human moderately repeated Y-specific DNA sequence is evolutionarily conserved in the Y chromosome of the great apes.</strong>
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Genomics 13: 363-367, 1992.
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[PubMed: 1612595]
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[Full Text: https://doi.org/10.1016/0888-7543(92)90254-p]
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</p>
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</li>
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<p class="mim-text-font">
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Jakubiczka, S., Schnieders, F., Schmidtke, J.
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<strong>A bovine homologue of the human TSPY gene.</strong>
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Genomics 17: 732-735, 1993. Note: Erratum: Genomics 19: 198 only, 1994.
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[PubMed: 8244389]
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[Full Text: https://doi.org/10.1006/geno.1993.1394]
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</p>
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<p class="mim-text-font">
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Jobling, M. A., Lo, I. C. C., Turner, D. J., Bowden, G. R., Lee, A. C., Xue, Y., Carvalho-Silva, D., Hurles, M. E., Adams, S. M., Chang, Y. M., Kraaijenbrink, T., Henke, J., Guanti, G., McKeown, B., van Oorschot, R. A. H., Mitchell, R. J., de Knijff, P., Tyler-Smith, C., Parkin, E. J.
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<strong>Structural variation on the short arm of the human Y chromosome: recurrent multigene deletions encompassing Amelogenin Y.</strong>
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Hum. Molec. Genet. 16: 307-316, 2007.
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[PubMed: 17189292]
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[Full Text: https://doi.org/10.1093/hmg/ddl465]
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</p>
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<li>
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<p class="mim-text-font">
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Lau, Y.-F. C.
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<strong>Sex chromosome genetics '99: gonadoblastoma, testicular and prostate cancers, and the TSPY gene.</strong>
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Am. J. Hum. Genet. 64: 921-927, 1999.
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[PubMed: 10090875]
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[Full Text: https://doi.org/10.1086/302353]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Manz, E., Schnieders, F., Brechlin, A. M., Schmidtke, J.
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<strong>TSPY-related sequences represent a microheterogeneous gene family organized as constitutive elements in DYZ5 tandem repeat units on the human Y chromosome.</strong>
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Genomics 17: 726-731, 1993.
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[PubMed: 8244388]
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[Full Text: https://doi.org/10.1006/geno.1993.1393]
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</p>
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</li>
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<li>
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<p class="mim-text-font">
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Mazeyrat, S., Mitchell, M. J.
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<strong>Rodent Y chromosome TSPY gene is functional in rat and non-functional in mouse.</strong>
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Hum. Molec. Genet. 7: 557-562, 1998.
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[PubMed: 9467017]
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[Full Text: https://doi.org/10.1093/hmg/7.3.557]
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<p class="mim-text-font">
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Schnieders, F., Dork, T., Arnemann, J., Vogel, T., Werner, M., Schmidtke, J.
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<strong>Testis-specific protein, Y-encoded (TSPY) expression in testicular tissues.</strong>
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Hum. Molec. Genet. 5: 1801-1807, 1996.
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[PubMed: 8923009]
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[Full Text: https://doi.org/10.1093/hmg/5.11.1801]
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<p class="mim-text-font">
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Shen, Y., Yan, Y., Liu, Y., Zhang, S., Yang, D., Zhang, P., Li, L., Wang, Y., Ma, Y., Tao, D., Yang, Y.
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<strong>A significant effect of the TSPY1 copy number on spermatogenesis efficiency and the phenotypic expression of the gr/gr deletion.</strong>
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Hum. Molec. Genet. 22: 1679-1695, 2013.
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[PubMed: 23307928]
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[Full Text: https://doi.org/10.1093/hmg/ddt004]
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<p class="mim-text-font">
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Vogel, T., Boettger-Tong, H., Nanda, I., Dechend, F., Agulnik, A. I., Bishop, C. E., Schmid, M., Schmidtke, J.
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<strong>A murine TSPY.</strong>
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Chromosome Res. 6: 35-40, 1998. Note: Erratum: Chromosome Res. 6: 241 only, 1998.
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[PubMed: 9510508]
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[Full Text: https://doi.org/10.1023/a:1009214307764]
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</p>
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<li>
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<p class="mim-text-font">
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Zhang, J. S., Yang-Feng, T. L., Muller, U., Mohandas, T. K., de Jong, P. J., Lau, Y.-F. C.
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<strong>Molecular isolation and characterization of an expressed gene from the human Y-chromosome.</strong>
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Hum. Molec. Genet. 1: 717-726, 1992.
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[PubMed: 1284595]
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[Full Text: https://doi.org/10.1093/hmg/1.9.717]
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Marla J. F. O'Neill - updated : 2/18/2014<br>Patricia A. Hartz - updated : 6/25/2010<br>Victor A. McKusick - updated : 4/8/1999<br>Victor A. McKusick - updated : 8/17/1998<br>Victor A. McKusick - updated : 4/24/1998<br>Moyra Smith - updated : 1/29/1997<br>Alan F. Scott - updated : 2/12/1996
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