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Entry
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- *426000 - LYSINE DEMETHYLASE 5D; KDM5D
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- OMIM
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<p>
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<span class="h4">*426000</span>
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<br />
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<strong>Table of Contents</strong>
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<a href="#title"><strong>Title</strong></a>
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#evolution">Evolution</a>
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<a href="#history">History</a>
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<a href="#seeAlso"><strong>See Also</strong></a>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<a href="#contributors"><strong>Contributors</strong></a>
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<a href="#creationDate"><strong>Creation Date</strong></a>
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<a href="#editHistory"><strong>Edit History</strong></a>
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<h4 class="panel-title">
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<div style="display: table-cell;">External Links</div>
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</a>
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</h4>
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000012817;t=ENST00000317961" 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=8284" 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=426000" 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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<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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<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=ENSG00000012817;t=ENST00000317961" 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_001146705,NM_001146706,NM_004653,XM_005262560,XM_005262561,XM_011531468,XM_047442763,XM_047442764,XM_047442765,XM_047442766,XM_047442767,XM_047442768,XM_047442769,XM_047442770" 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_004653" 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=426000" 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=02464&isoform_id=02464_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/KDM5D" 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/1661016,1871160,9857987,13491123,17368706,33356560,119575050,119575051,124376284,148921573,193785315,194384338,219519021,226442991,226443002,308219206,530423184,530423186,768040963,929653838,2217401300,2217401303,2217401305,2217401307,2217401309,2217401311,2217401313,2217401315,2462632144,2462632146,2462632148,2462632150,2462632152,2462632154,2462632156,2462632158,2462632160,2462632162,2462632164" 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/Q9BY66" class="mim-tip-hint" title="Comprehensive protein sequence and functional information, including supporting data." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UniProt', 'domain': 'uniprot.org'})">UniProt</a></div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGeneInfo">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGeneInfoLinksFold" id="mimGeneInfoLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimGeneInfoLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Gene Info</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimGeneInfoLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="http://biogps.org/#goto=genereport&id=8284" 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=ENSG00000012817;t=ENST00000317961" 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=KDM5D" 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=KDM5D" 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+8284" 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/KDM5D" 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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<div><a href="https://www.ncbi.nlm.nih.gov/gene/8284" 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=ENST00000317961.9&hgg_start=19703865&hgg_end=19744726&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 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><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=426000[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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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=426000[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/ENSG00000012817" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=KDM5D" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=KDM5D" 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://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=KDM5D&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/PA35965" 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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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-cell;">Animal Models</div>
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</a>
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<div><a href="https://www.alliancegenome.org/gene/HGNC:11115" 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/FBgn0031759.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:99780" 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/KDM5D#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:99780" 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/8284/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=8284" 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=WBGene00004319;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 class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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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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</a>
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<div><a href="https://reactome.org/content/query?q=KDM5D&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>
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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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<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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<a id="title" class="mim-anchor"></a>
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<div class="text-right">
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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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426000
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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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LYSINE DEMETHYLASE 5D; KDM5D
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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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<a id="alternativeTitles" class="mim-anchor"></a>
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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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<h4>
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<span class="mim-font">
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LYSINE-SPECIFIC DEMETHYLASE 5D<br />
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JUMONJI, AT-RICH INTERACTIVE DOMAIN 1D; JARID1D<br />
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SELECTED cDNA ON Y, MOUSE, HOMOLOG OF; SMCY<br />
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HISTOCOMPATIBILITY Y ANTIGEN; HY; HYA<br />
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H-Y ANTIGEN
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</h4>
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<div>
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<br />
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=KDM5D" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">KDM5D</a></em></strong>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/Y/35?start=-3&limit=10&highlight=35">Yq11.223</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:19703865-19744726&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:19,703,865-19,744,726</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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<br />
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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<div>
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<a id="cloning" class="mim-anchor"></a>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</h4>
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<p><a href="#2" class="mim-tip-reference" title="Agulnik, A. I., Mitchell, M. J., Lerner, J. L., Woods, D. R., Bishop, C. E. <strong>A mouse Y chromosome gene encoded by a region essential for spermatogenesis and expression of male-specific minor histocompatibility antigens.</strong> Hum. Molec. Genet. 3: 873-878, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7524912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7524912</a>] [<a href="https://doi.org/10.1093/hmg/3.6.873" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7524912">Agulnik et al. (1994)</a> described the isolation of a gene that mapped to the short arm of the mouse Y chromosome. They called the gene Smcy for 'selected mouse cDNA on Y.' It was clustered with the Ube1y (<a href="/entry/489000">489000</a>) and the Zfy1 genes (<a href="/entry/490000">490000</a>) in a segment of approximately 250 kb. A homologous gene, Smcx (JARID1C; <a href="/entry/314690">314690</a>), was found on the X chromosome (<a href="#3" class="mim-tip-reference" title="Agulnik, A. I., Mitchell, M. J., Mattei, M.-G., Borsani, G., Avner, P. A., Lerner, J. L., Bishop, C. E. <strong>A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human.</strong> Hum. Molec. Genet. 3: 879-884, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7951230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7951230</a>] [<a href="https://doi.org/10.1093/hmg/3.6.879" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7951230">Agulnik et al., 1994</a>). Expression of Smcy was detected in all male tissues and expression of Smcx in all male and female tissues tested. Remarkably, the expression of both genes was detected in pools of mouse preimplantation embryos as early as the 2-cell stage. They found that Smcy, like Sry (<a href="/entry/480000">480000</a>) and Ube1y, has been conserved on the Y chromosome since the divergence of metatherian and eutherian mammals some 120 million years ago. <a href="#2" class="mim-tip-reference" title="Agulnik, A. I., Mitchell, M. J., Lerner, J. L., Woods, D. R., Bishop, C. E. <strong>A mouse Y chromosome gene encoded by a region essential for spermatogenesis and expression of male-specific minor histocompatibility antigens.</strong> Hum. Molec. Genet. 3: 873-878, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7524912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7524912</a>] [<a href="https://doi.org/10.1093/hmg/3.6.873" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7524912">Agulnik et al. (1994)</a> isolated homologous genes from the human and horse and showed that they have similar exon/intron organizations and are more than 93% similar to each other and to Smcx at the amino acid level. Using a set of overlapping YAC clones provided by David Page, <a href="#2" class="mim-tip-reference" title="Agulnik, A. I., Mitchell, M. J., Lerner, J. L., Woods, D. R., Bishop, C. E. <strong>A mouse Y chromosome gene encoded by a region essential for spermatogenesis and expression of male-specific minor histocompatibility antigens.</strong> Hum. Molec. Genet. 3: 873-878, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7524912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7524912</a>] [<a href="https://doi.org/10.1093/hmg/3.6.873" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7524912">Agulnik et al. (1994)</a> determined that the human SMCY gene maps to deletion interval 5O/5P on Yq between STS markers DYS214 and DYS215. The HYA locus maps to the same interval on the human Y chromosome. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7951230+7524912" 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="Kent-First, M. G., Maffitt, M., Muallem, A., Brisco, P., Shultz, J., Ekenberg, S., Agulnik, A. I., Agoulnik, I., Shramm, D., Bavister, B., Abdul-Mawgood, A., VandeBerg, J. <strong>Gene sequence and evolutionary conservation of human SMCY. (Letter)</strong> Nature Genet. 14: 128-129, 1996. Note: Erratum: Nature Genet. 14: 252 only, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8841177/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8841177</a>] [<a href="https://doi.org/10.1038/ng1096-128" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8841177">Kent-First et al. (1996)</a> reported the isolation and sequencing of the full-length cDNA (5.4 kb) of the human SMCY gene. They confirmed that SMCY encodes one human H-Y epitope, H-Y/HLA-B7. They also reported the pattern of the SMCY gene expression in early primary development, evolutionary sequence comparison, and, contrary to previous reports, evidence that proved SMCY is Y-linked across a broad range of species. Analysis of the consensus cDNA sequence revealed a single long open reading frame of 4,620 bp, starting at position 276 and ending with the TGA termination codon at position 4893, which encodes a 1,539-amino acid negatively charged polypeptide with an estimated molecular mass of 174 kD. <a href="#9" class="mim-tip-reference" title="Kent-First, M. G., Maffitt, M., Muallem, A., Brisco, P., Shultz, J., Ekenberg, S., Agulnik, A. I., Agoulnik, I., Shramm, D., Bavister, B., Abdul-Mawgood, A., VandeBerg, J. <strong>Gene sequence and evolutionary conservation of human SMCY. (Letter)</strong> Nature Genet. 14: 128-129, 1996. Note: Erratum: Nature Genet. 14: 252 only, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8841177/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8841177</a>] [<a href="https://doi.org/10.1038/ng1096-128" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8841177">Kent-First et al. (1996)</a> found that SMCY is homologous to SMCX at the nucleotide and amino acid levels with 77% and 84.4% similarity, respectively. The human SMCY protein is 81.8% homologous to Rhesus monkey compared with 66.7% homology in mouse. SMCY/X appear to be 2 of the few early transcripts in embryos. Since SMCX escapes X-inactivation in mice and humans, the authors speculated that both copies of the SMC gene may be necessary for normal function. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8841177" 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>Histocompatibility antigens determined by the Y chromosome were first found in the mouse (<a href="#6" class="mim-tip-reference" title="Eichwald, E. J., Silmser, C. R. <strong>Skin.</strong> Transplant. Bull. 2: 148-149, 1955.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12334405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12334405</a>]" pmid="12334405">Eichwald and Silmser, 1955</a>; <a href="#7" class="mim-tip-reference" title="Gasser, D. L., Silvers, W. K. <strong>Genetics and immunology of sex-linked antigens.</strong> Adv. Immun. 15: 215-247, 1972.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4403726/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4403726</a>] [<a href="https://doi.org/10.1016/s0065-2776(08)60686-0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4403726">Gasser and Silvers, 1972</a>) and later in the rat, guinea pig, and many other species. Their existence in man was first shown by the fact that mouse antisera react with human male lymphocytes but not with female lymphocytes (<a href="#23" class="mim-tip-reference" title="Wachtel, S. S., Koo, G. C., Zuckerman, E. E., Hammerling, U., Scheid, M. P., Boyse, E. A. <strong>Serological crossreactivity between H-Y (male) antigens of mouse and man.</strong> Proc. Nat. Acad. Sci. 71: 1215-1218, 1974.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4545429/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4545429</a>] [<a href="https://doi.org/10.1073/pnas.71.4.1215" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4545429">Wachtel et al., 1974</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4403726+12334405+4545429" 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 the mouse, both the H-Y antigen (Hya) and the testis-determining (Tdy) genes map to the short arm of the Y chromosome. Because spermatogenesis is blocked in mice lacking the H-Y antigen, <a href="#5" class="mim-tip-reference" title="Burgoyne, P. S., Levy, E. R., McLaren, A. <strong>Spermatogenic failure in male mice lacking H-Y antigen.</strong> Nature 320: 170-172, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3951555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3951555</a>] [<a href="https://doi.org/10.1038/320170a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3951555">Burgoyne et al. (1986)</a> suggested that the H-Y antigen gene or a gene closely linked to it plays a role in spermatogenesis. <a href="#20" class="mim-tip-reference" title="Simpson, E., Chandler, P., Goulmy, E., Ma, K., Hargreave, T. B., Chandley, A. C. <strong>Loss of the 'azoospermia factor' (AZF) on Yq in man is not associated with loss of HYA.</strong> Hum. Molec. Genet. 2: 469-471, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8504308/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8504308</a>] [<a href="https://doi.org/10.1093/hmg/2.4.469" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8504308">Simpson et al. (1993)</a> found that of 9 azoospermic or severely oligospermic patients 7 could be tested for HYA expression; of these, 6 were H-Y positive. Of 3 patients showing Yq structural abnormalities, 2 could be tested for H-Y expression; 1 was negative, the other positive. These results showed no correlation between spermatogenic failure and the absence of HYA, thus separating the AZF locus (see <a href="/entry/415000">415000</a>) from HYA. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8504308+3951555" 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 the mouse, <a href="#16" class="mim-tip-reference" title="Scott, D. M., Ehrmann, I. E., Ellis, P. S., Bishop, C. E., Agulnik, A. I., Simpson, E., Mitchell, M. J. <strong>Identification of a mouse male-specific transplantation antigen, H-Y.</strong> Nature 376: 695-698, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7544442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7544442</a>] [<a href="https://doi.org/10.1038/376695a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7544442">Scott et al. (1995)</a> found that Smcy encodes an H-Y epitope that is defined by the octamer peptide TENSGKDI; no similar peptide was found in Smcx. Since no similar peptide was found in the X-chromosomal homolog Smcx, it is presumably the genetic basis for the antigenic difference between males and females that contributes toward a tissue transplant rejection response. In the human, <a href="#24" class="mim-tip-reference" title="Wang, W., Meadows, L. R., den Haan, J. M. M., Sherman, N. E., Chen, Y., Blokland, E., Shabanowitz, J., Agulnik, A. I., Hendrickson, R. C., Bishop, C. E., Hunt, D. F., Goulmy, E., Engelhard, V. H. <strong>Human H-Y: a male-specific histocompatibility antigen derived from the SMCY protein.</strong> Science 269: 1588-1590, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7667640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7667640</a>] [<a href="https://doi.org/10.1126/science.7667640" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7667640">Wang et al. (1995)</a> made comparable observations. As with other minor histocompatibility antigens, the recognition of H-Y by T lymphocytes is MHC-restricted, and some H-Y antigens are peptides derived from cellular proteins that are presented on the cell surface in association with MHC class I molecules. <a href="#24" class="mim-tip-reference" title="Wang, W., Meadows, L. R., den Haan, J. M. M., Sherman, N. E., Chen, Y., Blokland, E., Shabanowitz, J., Agulnik, A. I., Hendrickson, R. C., Bishop, C. E., Hunt, D. F., Goulmy, E., Engelhard, V. H. <strong>Human H-Y: a male-specific histocompatibility antigen derived from the SMCY protein.</strong> Science 269: 1588-1590, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7667640/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7667640</a>] [<a href="https://doi.org/10.1126/science.7667640" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7667640">Wang et al. (1995)</a> used a technique for identifying individual peptides that are bound to MHC molecules and recognized as antigens by T cells. One human H-Y antigen presented by HLA-B7 was identified as an 11-residue peptide derived from SMCY. The protein from the homologous gene on the X chromosome, SMCX, differed by 2 amino acid residues in the same region. They commented that the origin and function of H-Y antigens had eluded researchers for 40 years and suggested that the 77% DNA sequence identity between SMCY and SMCX may explain past failures to identify H-Y-encoding genes by subtractive hybridization. Both proteins show significant sequence homology to retinoblastoma binding protein-2 (RBBP2; <a href="/entry/180202">180202</a>), which has been suggested to be a transcription factor. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7544442+7667640" 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="#13" class="mim-tip-reference" title="Muller, U. <strong>H-Y antigens.</strong> Hum. Genet. 97: 701-704, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8641682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8641682</a>] [<a href="https://doi.org/10.1007/BF02346175" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8641682">Muller (1996)</a> reviewed findings on the molecular nature of H-Y antigens. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8641682" 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="Blanchard, R., Klassen, P. <strong>H-Y antigen and homosexuality in men.</strong> J. Theor. Biol. 185: 373-378, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9156085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9156085</a>] [<a href="https://doi.org/10.1006/jtbi.1996.0315" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9156085">Blanchard and Klassen (1997)</a> observed that homosexual orientation in males (see <a href="/entry/306995">306995</a>) correlated with the number of older brothers, with each additional older brother increasing the odds of homosexuality by 33%. The authors hypothesized that this fraternal birth order effect reflects progressive immunization of some mothers to the Y-linked minor histocompatibility antigen H-Y by each succeeding male fetus, and the concomitantly increasing effects of H-Y antibodies on the sexual differentiation of the brain in each succeeding male fetus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9156085" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>By primary genomic sequencing, <a href="#18" 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> determined that the SMCY gene contains 27 exons comprising 4,620 bp of coding sequence. <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>
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<p><a href="#1" class="mim-tip-reference" title="Agulnik, A. I., Bishop, C. E., Lerner, J. L., Agulnik, S. I., Solovyev, V. V. <strong>Analysis of mutation rates in the SMCY/SMCX genes shows that mammalian evolution is male driven.</strong> Mammalian Genome 8: 134-138, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9060413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9060413</a>] [<a href="https://doi.org/10.1007/s003359900372" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9060413">Agulnik et al. (1997)</a> noted that mammalian evolution is believed to be male-driven because the greater number of germ cell divisions per generation in males increases the opportunity for errors in DNA replication. Since the Y chromosome replicates exclusively in males, its genes should also evolve faster than X or autosomal genes. In addition, estimating the overall male-to-male mutation ratio is of great importance as a large ratio implies that replication-independent mutagenic events play a relatively small role in evolution. A small ratio suggests that the impact of these factors may, in fact, be significant. <a href="#1" class="mim-tip-reference" title="Agulnik, A. I., Bishop, C. E., Lerner, J. L., Agulnik, S. I., Solovyev, V. V. <strong>Analysis of mutation rates in the SMCY/SMCX genes shows that mammalian evolution is male driven.</strong> Mammalian Genome 8: 134-138, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9060413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9060413</a>] [<a href="https://doi.org/10.1007/s003359900372" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9060413">Agulnik et al. (1997)</a> analyzed the rates of evolution in the homologous X-Y common SMCX/SMCY genes from 3 different species: mouse, human, and horse. The SMC genes were chosen because the X and Y copies are highly homologous, well conserved in evolution, and in all probability functionally interchangeable. Sequence comparisons and analysis of synonymous substitutions in approximately 1 kb of the 5-prime coding region of the SMC genes revealed that the Y-linked copies are evolving approximately 1.8 times faster than their X homologs. The male-to-female mutation ratio was estimated to be 3. Their data supported the hypothesis that mammalian evolution is male-driven. However, the ratio value was far smaller than suggested in earlier studies, implying significance of replication-independent mutagenic events in evolution also. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9060413" 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="#18" 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 SMCY, DBY (<a href="/entry/400010">400010</a>), DFFRY (USP9Y; <a href="/entry/400005">400005</a>), and UTY1 (<a href="/entry/400009">400009</a>) 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="#11" 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 time to the most recent common ancestor (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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<p>The possibility that the locus that determines heterogametic sex determination and that for the H-Y antigen were the same was suggested by <a href="#22" class="mim-tip-reference" title="Wachtel, S. S., Koo, G. C., Breg, W. R., Elias, S., Boyse, E. A., Miller, O. J. <strong>Expression of H-Y antigen in human males with two Y chromosomes.</strong> New Eng. J. Med. 293: 1070-1072, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1237089/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1237089</a>] [<a href="https://doi.org/10.1056/NEJM197511202932105" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1237089">Wachtel et al. (1975)</a>. The identity of the H-Y antigen and testis-determining factor was also suggested by <a href="#8" class="mim-tip-reference" title="Iwata, H., Nagai, Y., Stapleton, D. D., Smith, R. C., Ohno, S. <strong>Identification of human H-Y antigen and its testis-organizing function.</strong> Arthritis Rheum. 22: 1211-1216, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/574387/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">574387</a>] [<a href="https://doi.org/10.1002/art.1780221108" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="574387">Iwata et al. (1979)</a>, <a href="#14" class="mim-tip-reference" title="Nagai, Y., Ciccarese, S., Ohno, S. <strong>The identification of human H-Y antigen and testicular transformation induced by its interaction with the receptor site of bovine fetal ovarian cells.</strong> Differentiation 13: 155-164, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/94287/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">94287</a>] [<a href="https://doi.org/10.1111/j.1432-0436.1979.tb01578.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="94287">Nagai et al. (1979)</a> and <a href="#15" class="mim-tip-reference" title="Ohno, S., Nagai, Y., Ciccarese, S., Iwata, H. <strong>Testis-organizing H-Y antigen and the primary sex-determining mechanism of mammals.</strong> Recent Prog. Horm. Res. 35: 449-476, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/390654/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">390654</a>] [<a href="https://doi.org/10.1016/b978-0-12-571135-7.50014-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="390654">Ohno et al. (1979)</a>. However, subsequent evidence ruled out this possibility. From the study of XX males and XY females, it can be concluded that the H-Y determinant on the Y and TDF (testis-determining factor; <a href="/entry/480000">480000</a>) are separate entities and not closely situated (<a href="#21" class="mim-tip-reference" title="Simpson, E. <strong>The H-Y antigen and sex reversal.</strong> Cell 44: 813-814, 1986.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3955650/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3955650</a>] [<a href="https://doi.org/10.1016/0092-8674(86)90001-2" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3955650">Simpson, 1986</a>; <a href="#19" class="mim-tip-reference" title="Simpson, E., Chandler, P., Goulmy, E., Disteche, C. M., Ferguson-Smith, M. A., Page, D. C. <strong>Separation of the genetic loci for the H-Y antigen and for testis determination on human Y chromosome.</strong> Nature 326: 876-878, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3494951/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3494951</a>] [<a href="https://doi.org/10.1038/326876a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3494951">Simpson et al., 1987</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=390654+3494951+1237089+3955650+94287+574387" 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="#26" class="mim-tip-reference" title="Wolf, U. <strong>Zum Mechanismus der Gonadendifferenzierung.</strong> Bull. Schweiz. Akad. Med. Wiss. 34: 357-368, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/215259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">215259</a>]" pmid="215259">Wolf (1978)</a> had proposed that the structural gene for the H-Y antigen was located on an autosome and that its expression was regulated by an X-linked repressor gene and a Y-linked inducer gene. The regulatory (suppressing) gene was thought to be located on the short arm of the X, and the Y chromosome was thought to play an antagonizing role, suppressing the X-linked suppressor or compensating for its effects (<a href="#25" class="mim-tip-reference" title="Wiberg, U., Mayerova, A., Muller, U., Fredga, K., Wolf, U. <strong>X-linked genes of the H-Y antigen system in the wood lemming (Myopus schisticolor).</strong> Hum. Genet. 60: 163-166, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7042534/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7042534</a>] [<a href="https://doi.org/10.1007/BF00569705" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7042534">Wiberg et al., 1982</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7042534+215259" 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="#17" class="mim-tip-reference" title="Shapiro, M., Erickson, R. P. <strong>Evidence that the serological determinant of H-Y antigen is carbohydrate.</strong> Nature 290: 503-505, 1981.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6163990/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6163990</a>] [<a href="https://doi.org/10.1038/290503a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6163990">Shapiro and Erickson (1981)</a> presented evidence that the serologic determinant of H-Y antigen is carbohydrate. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6163990" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#Koo1977" class="mim-tip-reference" title="Koo, G. C., Wachtel, S. S., Krupen-Brown, K., Mittl, L. R., Breg, W. R., Genel, M., Rosenthal, D. S., Borgaonkar, D. S., Miller, D. A., Tantravahi, R. R., Schreck, R. R., Erlanger, B. F., Miller, O. J. <strong>Mapping of the locus of the H-Y gene on the human Y chromosome.</strong> Science 198: 940-942, 1977.">Koo et al. (1977)</a>; <a href="#Muller1982" class="mim-tip-reference" title="Muller, U. <strong>Identification and function of serologically detectable H-Y antigen.</strong> Hum. Genet. 61: 91-94, 1982.">Muller (1982)</a>
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Agulnik, A. I., Bishop, C. E., Lerner, J. L., Agulnik, S. I., Solovyev, V. V.
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<strong>Analysis of mutation rates in the SMCY/SMCX genes shows that mammalian evolution is male driven.</strong>
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Mammalian Genome 8: 134-138, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9060413/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9060413</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9060413" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s003359900372" target="_blank">Full Text</a>]
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Agulnik, A. I., Mitchell, M. J., Lerner, J. L., Woods, D. R., Bishop, C. E.
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<strong>A mouse Y chromosome gene encoded by a region essential for spermatogenesis and expression of male-specific minor histocompatibility antigens.</strong>
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Hum. Molec. Genet. 3: 873-878, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7524912/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7524912</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7524912" 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/3.6.873" target="_blank">Full Text</a>]
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Agulnik, A. I., Mitchell, M. J., Mattei, M.-G., Borsani, G., Avner, P. A., Lerner, J. L., Bishop, C. E.
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<strong>A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human.</strong>
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Hum. Molec. Genet. 3: 879-884, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7951230/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7951230</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7951230" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Blanchard, R., Klassen, P.
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<strong>H-Y antigen and homosexuality in men.</strong>
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J. Theor. Biol. 185: 373-378, 1997.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9156085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9156085</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9156085" 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/jtbi.1996.0315" target="_blank">Full Text</a>]
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Burgoyne, P. S., Levy, E. R., McLaren, A.
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<strong>Spermatogenic failure in male mice lacking H-Y antigen.</strong>
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Nature 320: 170-172, 1986.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3951555/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3951555</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3951555" 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/10.1038/320170a0" target="_blank">Full Text</a>]
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Eichwald, E. J., Silmser, C. R.
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<strong>Skin.</strong>
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Transplant. Bull. 2: 148-149, 1955.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12334405/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12334405</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12334405" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Gasser, D. L., Silvers, W. K.
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<strong>Genetics and immunology of sex-linked antigens.</strong>
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Adv. Immun. 15: 215-247, 1972.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4403726/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4403726</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4403726" 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/s0065-2776(08)60686-0" target="_blank">Full Text</a>]
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<a id="Iwata1979" class="mim-anchor"></a>
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Iwata, H., Nagai, Y., Stapleton, D. D., Smith, R. C., Ohno, S.
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<strong>Identification of human H-Y antigen and its testis-organizing function.</strong>
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Arthritis Rheum. 22: 1211-1216, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7042534/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7042534</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7042534" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF00569705" target="_blank">Full Text</a>]
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<a id="Wolf1978" class="mim-anchor"></a>
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Wolf, U.
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<strong>Zum Mechanismus der Gonadendifferenzierung.</strong>
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Bull. Schweiz. Akad. Med. Wiss. 34: 357-368, 1978.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/215259/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">215259</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=215259" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Paul J. Converse - updated : 5/19/2016
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Cassandra L. Kniffin - updated : 5/30/2006<br>Victor A. McKusick - updated : 8/25/2000
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Victor A. McKusick : 4/30/1993
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carol : 02/09/2021
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carol : 10/13/2016<br>mgross : 05/19/2016<br>mgross : 5/19/2016<br>alopez : 3/19/2013<br>carol : 8/20/2009<br>carol : 8/19/2009<br>mgross : 7/9/2009<br>wwang : 3/13/2008<br>carol : 6/28/2007<br>wwang : 6/12/2006<br>ckniffin : 5/30/2006<br>alopez : 4/19/2005<br>alopez : 4/6/2005<br>carol : 12/14/2004<br>terry : 3/19/2004<br>carol : 8/25/2000<br>carol : 8/25/2000<br>alopez : 11/19/1998<br>terry : 7/10/1997<br>mark : 11/6/1995<br>mimadm : 3/11/1994<br>carol : 10/14/1993<br>carol : 5/21/1993<br>carol : 5/17/1993<br>carol : 4/30/1993
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<strong>*</strong> 426000
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LYSINE DEMETHYLASE 5D; KDM5D
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LYSINE-SPECIFIC DEMETHYLASE 5D<br />
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JUMONJI, AT-RICH INTERACTIVE DOMAIN 1D; JARID1D<br />
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SELECTED cDNA ON Y, MOUSE, HOMOLOG OF; SMCY<br />
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HISTOCOMPATIBILITY Y ANTIGEN; HY; HYA<br />
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H-Y ANTIGEN
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<strong><em>HGNC Approved Gene Symbol: KDM5D</em></strong>
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Cytogenetic location: Yq11.223
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<p>Agulnik et al. (1994) described the isolation of a gene that mapped to the short arm of the mouse Y chromosome. They called the gene Smcy for 'selected mouse cDNA on Y.' It was clustered with the Ube1y (489000) and the Zfy1 genes (490000) in a segment of approximately 250 kb. A homologous gene, Smcx (JARID1C; 314690), was found on the X chromosome (Agulnik et al., 1994). Expression of Smcy was detected in all male tissues and expression of Smcx in all male and female tissues tested. Remarkably, the expression of both genes was detected in pools of mouse preimplantation embryos as early as the 2-cell stage. They found that Smcy, like Sry (480000) and Ube1y, has been conserved on the Y chromosome since the divergence of metatherian and eutherian mammals some 120 million years ago. Agulnik et al. (1994) isolated homologous genes from the human and horse and showed that they have similar exon/intron organizations and are more than 93% similar to each other and to Smcx at the amino acid level. Using a set of overlapping YAC clones provided by David Page, Agulnik et al. (1994) determined that the human SMCY gene maps to deletion interval 5O/5P on Yq between STS markers DYS214 and DYS215. The HYA locus maps to the same interval on the human Y chromosome. </p><p>Kent-First et al. (1996) reported the isolation and sequencing of the full-length cDNA (5.4 kb) of the human SMCY gene. They confirmed that SMCY encodes one human H-Y epitope, H-Y/HLA-B7. They also reported the pattern of the SMCY gene expression in early primary development, evolutionary sequence comparison, and, contrary to previous reports, evidence that proved SMCY is Y-linked across a broad range of species. Analysis of the consensus cDNA sequence revealed a single long open reading frame of 4,620 bp, starting at position 276 and ending with the TGA termination codon at position 4893, which encodes a 1,539-amino acid negatively charged polypeptide with an estimated molecular mass of 174 kD. Kent-First et al. (1996) found that SMCY is homologous to SMCX at the nucleotide and amino acid levels with 77% and 84.4% similarity, respectively. The human SMCY protein is 81.8% homologous to Rhesus monkey compared with 66.7% homology in mouse. SMCY/X appear to be 2 of the few early transcripts in embryos. Since SMCX escapes X-inactivation in mice and humans, the authors speculated that both copies of the SMC gene may be necessary for normal function. </p>
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<p>Histocompatibility antigens determined by the Y chromosome were first found in the mouse (Eichwald and Silmser, 1955; Gasser and Silvers, 1972) and later in the rat, guinea pig, and many other species. Their existence in man was first shown by the fact that mouse antisera react with human male lymphocytes but not with female lymphocytes (Wachtel et al., 1974). </p><p>In the mouse, both the H-Y antigen (Hya) and the testis-determining (Tdy) genes map to the short arm of the Y chromosome. Because spermatogenesis is blocked in mice lacking the H-Y antigen, Burgoyne et al. (1986) suggested that the H-Y antigen gene or a gene closely linked to it plays a role in spermatogenesis. Simpson et al. (1993) found that of 9 azoospermic or severely oligospermic patients 7 could be tested for HYA expression; of these, 6 were H-Y positive. Of 3 patients showing Yq structural abnormalities, 2 could be tested for H-Y expression; 1 was negative, the other positive. These results showed no correlation between spermatogenic failure and the absence of HYA, thus separating the AZF locus (see 415000) from HYA. </p><p>In the mouse, Scott et al. (1995) found that Smcy encodes an H-Y epitope that is defined by the octamer peptide TENSGKDI; no similar peptide was found in Smcx. Since no similar peptide was found in the X-chromosomal homolog Smcx, it is presumably the genetic basis for the antigenic difference between males and females that contributes toward a tissue transplant rejection response. In the human, Wang et al. (1995) made comparable observations. As with other minor histocompatibility antigens, the recognition of H-Y by T lymphocytes is MHC-restricted, and some H-Y antigens are peptides derived from cellular proteins that are presented on the cell surface in association with MHC class I molecules. Wang et al. (1995) used a technique for identifying individual peptides that are bound to MHC molecules and recognized as antigens by T cells. One human H-Y antigen presented by HLA-B7 was identified as an 11-residue peptide derived from SMCY. The protein from the homologous gene on the X chromosome, SMCX, differed by 2 amino acid residues in the same region. They commented that the origin and function of H-Y antigens had eluded researchers for 40 years and suggested that the 77% DNA sequence identity between SMCY and SMCX may explain past failures to identify H-Y-encoding genes by subtractive hybridization. Both proteins show significant sequence homology to retinoblastoma binding protein-2 (RBBP2; 180202), which has been suggested to be a transcription factor. </p><p>Muller (1996) reviewed findings on the molecular nature of H-Y antigens. </p><p>Blanchard and Klassen (1997) observed that homosexual orientation in males (see 306995) correlated with the number of older brothers, with each additional older brother increasing the odds of homosexuality by 33%. The authors hypothesized that this fraternal birth order effect reflects progressive immunization of some mothers to the Y-linked minor histocompatibility antigen H-Y by each succeeding male fetus, and the concomitantly increasing effects of H-Y antibodies on the sexual differentiation of the brain in each succeeding male fetus. </p>
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<strong>Gene Structure</strong>
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<p>By primary genomic sequencing, Shen et al. (2000) determined that the SMCY gene contains 27 exons comprising 4,620 bp of coding sequence. </p>
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<strong>Evolution</strong>
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<p>Agulnik et al. (1997) noted that mammalian evolution is believed to be male-driven because the greater number of germ cell divisions per generation in males increases the opportunity for errors in DNA replication. Since the Y chromosome replicates exclusively in males, its genes should also evolve faster than X or autosomal genes. In addition, estimating the overall male-to-male mutation ratio is of great importance as a large ratio implies that replication-independent mutagenic events play a relatively small role in evolution. A small ratio suggests that the impact of these factors may, in fact, be significant. Agulnik et al. (1997) analyzed the rates of evolution in the homologous X-Y common SMCX/SMCY genes from 3 different species: mouse, human, and horse. The SMC genes were chosen because the X and Y copies are highly homologous, well conserved in evolution, and in all probability functionally interchangeable. Sequence comparisons and analysis of synonymous substitutions in approximately 1 kb of the 5-prime coding region of the SMC genes revealed that the Y-linked copies are evolving approximately 1.8 times faster than their X homologs. The male-to-female mutation ratio was estimated to be 3. Their data supported the hypothesis that mammalian evolution is male-driven. However, the ratio value was far smaller than suggested in earlier studies, implying significance of replication-independent mutagenic events in evolution also. </p><p>By use of denaturing HPLC, Shen et al. (2000) screened the SMCY, DBY (400010), DFFRY (USP9Y; 400005), and UTY1 (400009) 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 time to the most recent common ancestor (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>History</strong>
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<p>The possibility that the locus that determines heterogametic sex determination and that for the H-Y antigen were the same was suggested by Wachtel et al. (1975). The identity of the H-Y antigen and testis-determining factor was also suggested by Iwata et al. (1979), Nagai et al. (1979) and Ohno et al. (1979). However, subsequent evidence ruled out this possibility. From the study of XX males and XY females, it can be concluded that the H-Y determinant on the Y and TDF (testis-determining factor; 480000) are separate entities and not closely situated (Simpson, 1986; Simpson et al., 1987). </p><p>Wolf (1978) had proposed that the structural gene for the H-Y antigen was located on an autosome and that its expression was regulated by an X-linked repressor gene and a Y-linked inducer gene. The regulatory (suppressing) gene was thought to be located on the short arm of the X, and the Y chromosome was thought to play an antagonizing role, suppressing the X-linked suppressor or compensating for its effects (Wiberg et al., 1982). </p><p>Shapiro and Erickson (1981) presented evidence that the serologic determinant of H-Y antigen is carbohydrate. </p>
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<strong>See Also:</strong>
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</span>
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</h4>
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<span class="mim-text-font">
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Koo et al. (1977); Muller (1982)
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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<p />
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Agulnik, A. I., Bishop, C. E., Lerner, J. L., Agulnik, S. I., Solovyev, V. V.
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<strong>Analysis of mutation rates in the SMCY/SMCX genes shows that mammalian evolution is male driven.</strong>
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Mammalian Genome 8: 134-138, 1997.
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[PubMed: 9060413]
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[Full Text: https://doi.org/10.1007/s003359900372]
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Agulnik, A. I., Mitchell, M. J., Lerner, J. L., Woods, D. R., Bishop, C. E.
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<strong>A mouse Y chromosome gene encoded by a region essential for spermatogenesis and expression of male-specific minor histocompatibility antigens.</strong>
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Hum. Molec. Genet. 3: 873-878, 1994.
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[PubMed: 7524912]
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[Full Text: https://doi.org/10.1093/hmg/3.6.873]
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Agulnik, A. I., Mitchell, M. J., Mattei, M.-G., Borsani, G., Avner, P. A., Lerner, J. L., Bishop, C. E.
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<strong>A novel X gene with a widely transcribed Y-linked homologue escapes X-inactivation in mouse and human.</strong>
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Hum. Molec. Genet. 3: 879-884, 1994.
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[PubMed: 7951230]
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[Full Text: https://doi.org/10.1093/hmg/3.6.879]
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Blanchard, R., Klassen, P.
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<strong>H-Y antigen and homosexuality in men.</strong>
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