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Entry
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- *400003 - DELETED IN AZOOSPERMIA 1; DAZ1
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- OMIM
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<div id="mimFloatingTocMenu" class="small" role="navigation">
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<p>
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<span class="h4">*400003</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="#description">Description</a>
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</li>
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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 role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#cytogenetics">Cytogenetics</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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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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</li>
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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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</ul>
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<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
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<div id="mimFloatingLinksMenu">
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<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
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<h4 class="panel-title">
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<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
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<div style="display: table-row">
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<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
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<div style="display: table-cell;">External Links</div>
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</div>
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</a>
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</h4>
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</div>
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</div>
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<div id="mimExternalLinksFold" class="collapse in">
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<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimGenome">
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<span class="panel-title">
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<span class="small">
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<a href="#mimGenomeLinksFold" id="mimGenomeLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimGenomeLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> Genome
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</a>
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</span>
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</span>
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</div>
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<div id="mimGenomeLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="genome">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Location/View?db=core;g=ENSG00000188120;t=ENST00000405239" 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=1617" 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=400003" 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=ENSG00000188120;t=ENST00000405239" 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_001388496,NM_004081" 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_004081" 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=400003" 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=15958&isoform_id=15958_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/DAZ1" 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/9652115,9652117,16517071,39842183,39842185,39842187,39842189,44887841,45269106,45861428,92097599,189181654,332367540,1934804100" 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/?query=Q86SG3 OR Q9NQZ3" 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=1617" 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=ENSG00000188120;t=ENST00000405239" 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=DAZ1" 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=DAZ1" 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+1617" 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/DAZ1" 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:1617" 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/1617" 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=ENST00000405239.6&hgg_start=23129355&hgg_end=23199094&hgg_type=knownGene" class="mim-tip-hint" title="UCSC Genome Bioinformatics; gene-specific structure and function information with links to other databases." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC', 'domain': 'genome.ucsc.edu'})">UCSC</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
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<span class="panel-title">
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<span class="small">
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<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
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<div style="display: table-row">
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<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Clinical Resources</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://search.clinicalgenome.org/kb/gene-dosage/HGNC:2682" class="mim-tip-hint" title="A ClinGen curated resource of genes and regions of the genome that are dosage sensitive and should be targeted on a cytogenomic array." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ClinGen Dosage', 'domain': 'dosage.clinicalgenome.org'})">ClinGen Dosage</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=400003[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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<div 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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<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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<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=400003[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/ENSG00000188120" 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=DAZ1" 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=DAZ1&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/PA27149" 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 class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</a>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:2682" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:1342328" 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/DAZ1#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:1342328" 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/1617/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=1617" 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=WBGene00000935;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 panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" 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="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cell Lines</div>
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</a>
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<div id="mimCellLinesLinksFold" 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://catalog.coriell.org/Search?q=OmimNum:400003" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://reactome.org/content/query?q=DAZ1&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<div>
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<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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400003
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</span>
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</span>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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DELETED IN AZOOSPERMIA 1; DAZ1
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</span>
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</h3>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="alternativeTitles" class="mim-anchor"></a>
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<div>
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<p>
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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</span>
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</p>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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DELETED IN AZOOSPERMIA; DAZ
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=DAZ1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">DAZ1</a></em></strong>
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</span>
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</p>
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</div>
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<div>
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<a id="cytogeneticLocation" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong>
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<em>
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Cytogenetic location: <a href="/geneMap/Y/46?start=-3&limit=10&highlight=46">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:23129355-23199094&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:23,129,355-23,199,094</a> </span>
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</em>
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</strong>
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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<div>
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<br />
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</div>
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<div>
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<a id="text" class="mim-anchor"></a>
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<h4>
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<span class="mim-font">
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<strong>TEXT</strong>
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</span>
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</span>
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</h4>
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<div>
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<a id="description" class="mim-anchor"></a>
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<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<div id="mimDescriptionFold" class="collapse in ">
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<span class="mim-text-font">
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<p>The DAZ gene encodes an RNA-binding protein with a role in spermatogenesis (summary by <a href="#18" class="mim-tip-reference" title="Tsui, S., Dai, T., Roettger, S., Schempp, W., Salido, E. C., Yen, P. H. <strong>Identification of two novel proteins that interact with germ-cell-specific RNA-binding proteins DAZ and DAZL1.</strong> Genomics 65: 266-273, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10857750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10857750</a>] [<a href="https://doi.org/10.1006/geno.2000.6169" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10857750">Tsui et al., 2000</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10857750" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div>
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<br />
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</div>
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<div>
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<a id="cloning" class="mim-anchor"></a>
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<h4 href="#mimCloningFold" id="mimCloningToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
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<span id="mimCloningToggleTriangle" class="small mimTextToggleTriangle">▼</span>
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<span class="mim-font">
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<strong>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<div id="mimCloningFold" class="collapse in mimTextToggleFold">
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<span class="mim-text-font">
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<p><a href="#11" class="mim-tip-reference" title="Reijo, R., Lee, T.-Y., Salo, P., Alagappan, R., Brown, L. G., Rosenberg, M., Rozen, S., Jaffe, T., Straus, D., Hovatta, O., de la Chapelle, A., Silber, S., Page, D. C. <strong>Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene.</strong> Nature Genet. 10: 383-393, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7670487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7670487</a>] [<a href="https://doi.org/10.1038/ng0895-383" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7670487">Reijo et al. (1995)</a> found that Y-chromosome deletions in 12 men with azoospermia overlapped, thus defining the locations of gene(s) required for spermatogenesis in the azoospermia factor (AZF) region (see <a href="/entry/415000">415000</a>). The region contained a single-copy gene, referred to as DAZ (for 'deleted in azoospermia'), which is transcribed in the adult testis and appears to encode an RNA-binding protein. <a href="#11" class="mim-tip-reference" title="Reijo, R., Lee, T.-Y., Salo, P., Alagappan, R., Brown, L. G., Rosenberg, M., Rozen, S., Jaffe, T., Straus, D., Hovatta, O., de la Chapelle, A., Silber, S., Page, D. C. <strong>Diverse spermatogenic defects in humans caused by Y chromosome deletions encompassing a novel RNA-binding protein gene.</strong> Nature Genet. 10: 383-393, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7670487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7670487</a>] [<a href="https://doi.org/10.1038/ng0895-383" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7670487">Reijo et al. (1995)</a> found that DAZ was the only transcription factor consistently deleted in azoospermic males with de novo deletions in the euchromatic portion of Yq. The 12 men with deletions came from a series of 89 men with Sertoli cell-only syndrome or testicular maturation arrest. Some of the nondeletion cases, all of which retained the AZF region, may be found to harbor de novo mutations in DAZ. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7670487" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Cooke, H. J., Lee, M., Kerr, S., Ruggiu, M. <strong>A murine homologue of the human DAZ gene is autosomal and expressed only in male and female gonads.</strong> Hum. Molec. Genet. 5: 513-516, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8845845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8845845</a>] [<a href="https://doi.org/10.1093/hmg/5.4.513" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8845845">Cooke et al. (1996)</a> postulated that the DAZ gene product may play a role in the germ cell-specific patterns of RNA splicing and storage. The authors isolated the mouse homolog of DAZ. <a href="#3" class="mim-tip-reference" title="Cooke, H. J., Lee, M., Kerr, S., Ruggiu, M. <strong>A murine homologue of the human DAZ gene is autosomal and expressed only in male and female gonads.</strong> Hum. Molec. Genet. 5: 513-516, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8845845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8845845</a>] [<a href="https://doi.org/10.1093/hmg/5.4.513" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8845845">Cooke et al. (1996)</a> reported that the predicted protein product of the mouse homolog is highly homologous to that of the human gene. By RT-PCR analysis, they established that transcripts occur only in mouse germ cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8845845" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The mouse homolog of the human Y-linked DAZ gene maps to chromosome 17. <a href="#12" class="mim-tip-reference" title="Reijo, R., Seligman, J., Dinulos, M. B., Jaffe, T., Brown, L. G., Disteche, C. M., Page, D. C. <strong>Mouse autosomal homolog of DAZ, a candidate male sterility gene in humans, is expressed in male germ cells before and after puberty.</strong> Genomics 35: 346-352, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8661148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8661148</a>] [<a href="https://doi.org/10.1006/geno.1996.0366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8661148">Reijo et al. (1996)</a> found that nonetheless, the predicted amino acid sequences of the mouse and human gene products are quite similar, especially in their putative RNA-binding domains, and both genes are transcribed predominantly in testes; the mouse gene is transcribed at a lower level in ovaries. Dazh transcripts were not detected in testes of mice that lacked germ cells. In testes of wildtype mice <a href="#12" class="mim-tip-reference" title="Reijo, R., Seligman, J., Dinulos, M. B., Jaffe, T., Brown, L. G., Disteche, C. M., Page, D. C. <strong>Mouse autosomal homolog of DAZ, a candidate male sterility gene in humans, is expressed in male germ cells before and after puberty.</strong> Genomics 35: 346-352, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8661148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8661148</a>] [<a href="https://doi.org/10.1006/geno.1996.0366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8661148">Reijo et al. (1996)</a> detected Dazh transcription 1 day after birth (when the only germ cells are prospermatogonia). Transcription increased steadily as spermatogonial stem cells appeared, plateaued as the first wave of spermatogenic cells entered meiosis (10 days after birth), and remained at this level thereafter. This unique pattern of expression suggested to the investigators that Dazh participates in differentiation, proliferation, or maintenance of germ cell founder populations before, during, and after the pubertal onset of spermatogenesis. Such functions could readily account for the diverse spermatogenic defects observed in human males with AZF deletions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8661148" 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="#8" class="mim-tip-reference" title="Menke, D. B., Mutter, G. L., Page, D. C. <strong>Expression of DAZ, an azoospermia factor candidate, in human spermatogonia. (Letter)</strong> Am. J. Hum. Genet. 60: 237-241, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8981970/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8981970</a>]" pmid="8981970">Menke et al. (1997)</a> reported that, on in situ hybridization of DAZ transcripts to sections of normal testes, spermatogonia were the source of the most intense signal. Their studies could not rule out the possibility that a portion of the observed signal originated from the autosomal homolog of DAZH. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8981970" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#18" class="mim-tip-reference" title="Tsui, S., Dai, T., Roettger, S., Schempp, W., Salido, E. C., Yen, P. H. <strong>Identification of two novel proteins that interact with germ-cell-specific RNA-binding proteins DAZ and DAZL1.</strong> Genomics 65: 266-273, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10857750/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10857750</a>] [<a href="https://doi.org/10.1006/geno.2000.6169" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10857750">Tsui et al. (2000)</a> identified 2 proteins, DAZAP1 (<a href="/entry/607430">607430</a>) and DAZAP2 (<a href="/entry/607431">607431</a>), that bind to DAZ and DAZL (<a href="/entry/601486">601486</a>) mainly through the DAZ repeat region. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10857750" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Kee, K., Angeles, V. T., Flores, M., Nguyen, H. N., Reijo Pera, R. A. <strong>Human DAZL, DAZ and BOULE genes modulate primordial germ-cell and haploid gamete formation.</strong> Nature 462: 222-225, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19865085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19865085</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19865085[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/10.1038/nature08562" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19865085">Kee et al. (2009)</a> used a germ cell reporter to quantify and isolate primordial germ cells derived from both male and female human embryonic stem cells. By silencing and overexpressing genes that encode germ cell-specific cytoplasmic RNA-binding proteins (not transcription factors), <a href="#6" class="mim-tip-reference" title="Kee, K., Angeles, V. T., Flores, M., Nguyen, H. N., Reijo Pera, R. A. <strong>Human DAZL, DAZ and BOULE genes modulate primordial germ-cell and haploid gamete formation.</strong> Nature 462: 222-225, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19865085/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19865085</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19865085[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/10.1038/nature08562" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19865085">Kee et al. (2009)</a> modulated human germ cell formation and developmental progression and observed that human DAZL functions in primordial germ cell formation, whereas closely related genes DAZ and BOULE (<a href="/entry/606165">606165</a>) promote later stages of meiosis and development of haploid gametes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19865085" 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 fluorescence in situ hybridization and characterization of BAC clones, <a href="#15" class="mim-tip-reference" title="Saxena, R., de Vries, J. W. A., Repping, S., Alagappan, R. K., Skaletsky, H., Brown, L. G., Ma, P., Chen, E., Hoovers, J. M. N., Page, D. C. <strong>Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome.</strong> Genomics 67: 256-267, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10936047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10936047</a>] [<a href="https://doi.org/10.1006/geno.2000.6260" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10936047">Saxena et al. (2000)</a> identified 4 DAZ genes in 2 clusters, each comprising an inverted pair, in the AZF region of the Y chromosome. Each of the 4 genes contains at least 7 tandem copies of a 2.4-kb repeat unit that encodes 24 amino acids, previously identified by <a href="#14" class="mim-tip-reference" title="Saxena, R., Brown, L. G., Hawkins, T., Alagappan, R. K., Skaletsky, H., Reeve, M. P., Reijo, R., Rozen, S., Dinulos, M. B., Disteche, C. M., Page, D. C. <strong>The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned.</strong> Nature Genet. 14: 292-299, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8896558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8896558</a>] [<a href="https://doi.org/10.1038/ng1196-292" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8896558">Saxena et al. (1996)</a>. DAZ1 is paired with DAZ2 (<a href="/entry/400026">400026</a>), and DAZ3 (<a href="/entry/400027">400027</a>) is paired with DAZ4 (<a href="/entry/400048">400048</a>). <a href="#15" class="mim-tip-reference" title="Saxena, R., de Vries, J. W. A., Repping, S., Alagappan, R. K., Skaletsky, H., Brown, L. G., Ma, P., Chen, E., Hoovers, J. M. N., Page, D. C. <strong>Four DAZ genes in two clusters found in the AZFc region of the human Y chromosome.</strong> Genomics 67: 256-267, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10936047/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10936047</a>] [<a href="https://doi.org/10.1006/geno.2000.6260" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10936047">Saxena et al. (2000)</a> found that at least 3 of the genes, DAZ1, DAZ2, and DAZ3, are functional. They could not exclude the possibility that the DAZ4 cDNA, which encodes a predicted 579-amino acid protein with a molecular mass of 65 kD, derives from DAZ1. The approximate size of the DAZ1 gene is 65 kb and that of DAZ4, 55 kb. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=10936047+8896558" 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>See <a href="#2" class="mim-tip-reference" title="Anonymous. <strong>A missing piece on the Y. (Editorial)</strong> Nature Genet. 10: 367-368, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7670479/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7670479</a>] [<a href="https://doi.org/10.1038/ng0895-367" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7670479">Anonymous (1995)</a> for a diagram (provided by R. Reijo) of the Y chromosome showing the locations of genes in the pseudoautosomal and the euchromatic regions. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7670479" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Cooke, H. J., Lee, M., Kerr, S., Ruggiu, M. <strong>A murine homologue of the human DAZ gene is autosomal and expressed only in male and female gonads.</strong> Hum. Molec. Genet. 5: 513-516, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8845845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8845845</a>] [<a href="https://doi.org/10.1093/hmg/5.4.513" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8845845">Cooke et al. (1996)</a> mapped the mouse homolog of DAZ to chromosome 17 at position 25.6 cM by fluorescence in situ hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8845845" 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="#12" class="mim-tip-reference" title="Reijo, R., Seligman, J., Dinulos, M. B., Jaffe, T., Brown, L. G., Disteche, C. M., Page, D. C. <strong>Mouse autosomal homolog of DAZ, a candidate male sterility gene in humans, is expressed in male germ cells before and after puberty.</strong> Genomics 35: 346-352, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8661148/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8661148</a>] [<a href="https://doi.org/10.1006/geno.1996.0366" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8661148">Reijo et al. (1996)</a> mapped Dazh, the mouse homolog of DAZ, to chromosome 17 by fluorescence in situ hybridization. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8661148" 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="#10" class="mim-tip-reference" title="Najmabadi, H., Huang, V., Yen, P., Subbarao, M. N., Bhasin, D, Banaag, L., Naseeruddin, S., de Kretser, D. M., Baker, H. W. G., McLachlan, R. I., Loveland, K. A., Bhasin, S. <strong>Substantial prevalence of microdeletions of the Y-chromosome in infertile men with idiopathic azoospermia and oligozoospermia detected using a sequence-tagged site-based mapping strategy.</strong> J. Clin. Endocr. Metab. 81: 1347-1352, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8636331/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8636331</a>] [<a href="https://doi.org/10.1210/jcem.81.4.8636331" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8636331">Najmabadi et al. (1996)</a> used a sequence tagged site (STS) mapping strategy to examine genomic DNA from 60 infertile men who had idiopathic azoospermia or severe oligospermia. Of the 60 subject DNAs studied with 26 STSs, 11 (18%; 10 azoospermic and 1 oligospermic) did not amplify with 1 or more STSs. Notably, 4 of 11 subjects had microdeletions outside the Yq region from which the DAZ gene was cloned. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8636331" 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="Stuppia, L., Calabrese, G., Franchi, P. G., Mingarelli, R., Gatta, V., Palka, G., Dallapiccola, B. <strong>Widening of a Y-chromosome interval-6 deletion transmitted from a father to his infertile son accounts for an oligozoospermia critical region distal to the RBM1 and DAZ genes. (Letter)</strong> Am. J. Hum. Genet. 59: 1393-1395, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8940286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8940286</a>]" pmid="8940286">Stuppia et al. (1996)</a> reported molecular analysis in an oligozoospermic male and his father who presented with a morphologically identical deletion of Y:del(Y)(q11). The father had no history of subfertility. Molecular analysis revealed that the deletion in the son was larger than that present in the father. The STSs Y243 and Y269, located in zone E of interval 6 of the Y chromosome, were deleted only in the proband. Both the proband and his father retained RBM1 (<a href="/entry/400006">400006</a>), sY254, and Y255, which map within the DAZ region in zone D of interval 6. <a href="#17" class="mim-tip-reference" title="Stuppia, L., Calabrese, G., Franchi, P. G., Mingarelli, R., Gatta, V., Palka, G., Dallapiccola, B. <strong>Widening of a Y-chromosome interval-6 deletion transmitted from a father to his infertile son accounts for an oligozoospermia critical region distal to the RBM1 and DAZ genes. (Letter)</strong> Am. J. Hum. Genet. 59: 1393-1395, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8940286/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8940286</a>]" pmid="8940286">Stuppia et al. (1996)</a> concluded that in oligospermic patients, genes in a region distal to DAZ and RBM1 may be involved in the spermatogenetic process. They also concluded that certain deletions may not necessarily lead to infertility but may make the Y chromosome more susceptible to a second mutation. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8940286" 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="Moro, E., Ferlin, A., Yen, P. H., Franchi, P. G., Palka, G., Foresta, C. <strong>Male infertility caused by a de novo partial deletion of the DAZ cluster on the Y chromosome.</strong> J. Clin. Endocr. Metab. 85: 4069-4073, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11095434/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11095434</a>] [<a href="https://doi.org/10.1210/jcem.85.11.6929" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11095434">Moro et al. (2000)</a> reported a partial deletion of the DAZ cluster removing all but 1 of the copies. This deletion was found in a patient affected with severe oligozoospermia who had a testicular phenotype characterized by a great quantitative reduction of germ cells (severe hypospermatogenesis). The absence of this deletion in the fertile brother of the patient suggested that this de novo mutation indeed caused the spermatogenic failure. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11095434" 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>To clarify whether cryptorchidism might be the expression of an intrinsic congenital testicular abnormality, <a href="#5" class="mim-tip-reference" title="Foresta, C., Moro, E., Garolla, A., Onisto, M., Ferlin, A. <strong>Y chromosome microdeletions in cryptorchidism and idiopathic infertility.</strong> J. Clin. Endocr. Metab. 84: 3660-3665, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10523011/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10523011</a>] [<a href="https://doi.org/10.1210/jcem.84.10.6077" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10523011">Foresta et al. (1999)</a> investigated the frequency of Y chromosome long arm (Yq) microdeletions in unilateral excryptorchid subjects manifesting an important bilateral testiculopathy. Eleven of 40 (27.5%) unilateral excryptorchid patients affected by bilateral testiculopathy and 28 of 110 (25.4%) patients affected by idiopathic severe primary testiculopathy showed Yq microdeletions, whereas no microdeletions were found in all the other subjects, nor in male relatives of patients with deletions. Microdeletions were located in different parts of Yq, including known regions involved in spermatogenesis (DAZ and RBM, AZFa, b, and c) and other loci. No difference in localization of deletions was evident between cryptorchid and idiopathic patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10523011" 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="Repping, S., van Daalen, S. K. M., Korver, C. M., Brown, L. G., Marszalek, J. D., Gianotten, J., Oates, R. D., Silber, S., van der Veen, F., Page, D. C., Rozen, S. <strong>A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region.</strong> Genomics 83: 1046-1052, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15177557/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15177557</a>] [<a href="https://doi.org/10.1016/j.ygeno.2003.12.018" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15177557">Repping et al. (2004)</a> identified the b2/b3 deletion within the AZFc region of the Y chromosome, in which 2 of the 4 copies of the DAZ gene are deleted. The b2/b3 deletion has no obvious effect on fitness. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15177557" 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="Foresta, C., Garolla, A., Bartoloni, L., Bettella, A., Ferlin, A. <strong>Genetic abnormalities among severely oligospermic men who are candidates for intracytoplasmic sperm injection.</strong> J. Clin. Endocr. Metab. 90: 152-156, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15509635/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15509635</a>] [<a href="https://doi.org/10.1210/jc.2004-1469" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15509635">Foresta et al. (2005)</a> hypothesized that infertile men may be more likely than fertile men to have genetic abnormalities. They studied 750 severely oligozoospermic men who were candidates for intracytoplasmic sperm injection and 303 fertile men. Chromosomal aberrations were present in 5.6% of infertile men and 0.3% of controls, and they were in most cases alterations of the sex chromosomes. Y chromosome long-arm microdeletions were detected in 6.0% of infertile men and most frequently included the AZFc region, whereas no cases were found in controls. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15509635" 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="#14" class="mim-tip-reference" title="Saxena, R., Brown, L. G., Hawkins, T., Alagappan, R. K., Skaletsky, H., Reeve, M. P., Reijo, R., Rozen, S., Dinulos, M. B., Disteche, C. M., Page, D. C. <strong>The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned.</strong> Nature Genet. 14: 292-299, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8896558/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8896558</a>] [<a href="https://doi.org/10.1038/ng1196-292" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8896558">Saxena et al. (1996)</a> reported multiple copies of DAZ (more than 99% identical in DNA sequence) clustered in the AZF region, and a functional DAZ homolog, which they designated DAZH (<a href="/entry/601486">601486</a>), on human chromosome 3. The entire gene family appeared to be expressed in germ cells. Sequence analysis indicated that the Y-chromosome DAZ cluster arose during primate evolution by (1) transposition of the autosomal gene to the Y; (2) amplification and pruning of exons within the transposed gene; and (3) amplification of the modified gene. The authors stated that these results challenged prevailing views of sex chromosome evolution, suggesting that acquisition of autosomal fertility genes was an important process in Y chromosome evolution. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8896558" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>The recent transposition to the Y chromosome of the autosomal DAZLA gene (DAZL; <a href="/entry/601486">601486</a>), potentially involved in germ cell development, created a unique opportunity to study the rate of Y chromosome evolution and assess the selective forces that may act upon such genes, and provided a new estimate of the male-to-male mutation rate. <a href="#1" class="mim-tip-reference" title="Agulnik, A. I., Zharkikh, A., Boettger-Tong, H., Bourgeron, T., McElreavey, K., Bishop, C. E. <strong>Evolution of the DAZ gene family suggests that Y-linked DAZ plays little, or a limited, role in spermatogenesis but underlines a recent African origin for human populations.</strong> Hum. Molec. Genet. 7: 1371-1377, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9700189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9700189</a>] [<a href="https://doi.org/10.1093/hmg/7.9.1371" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9700189">Agulnik et al. (1998)</a> observed 2 different Y-located DAZ sequences in all Old World monkeys, apes, and humans. Different DAZ copies originate from independent amplification events in each primate lineage. Comparison of autosomal DAZLA and Y-linked DAZ intron sequences gave a new figure for male-to-female mutation rates of alpha(m) = 4. It was found that human DAZ exons and introns are evolving at the same rate, implying neutral genetic drift and the absence of any functional selective pressures. <a href="#1" class="mim-tip-reference" title="Agulnik, A. I., Zharkikh, A., Boettger-Tong, H., Bourgeron, T., McElreavey, K., Bishop, C. E. <strong>Evolution of the DAZ gene family suggests that Y-linked DAZ plays little, or a limited, role in spermatogenesis but underlines a recent African origin for human populations.</strong> Hum. Molec. Genet. 7: 1371-1377, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9700189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9700189</a>] [<a href="https://doi.org/10.1093/hmg/7.9.1371" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9700189">Agulnik et al. (1998)</a> therefore hypothesized that Y-linked DAZ plays little, or a limited, role in human spermatogenesis. The 2 copies of DAZ in man appear to be due to a relatively recent duplication event (55,000 to 200,000 years ago). A worldwide survey of 67 men from 5 continents representing 19 distinct populations showed that most males had both DAZ variants. This implies a common origin for the Y chromosome consistent with a recent 'out of Africa' origin of the human race. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9700189" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Makova, K. D., Li, W.-H. <strong>Strong male-driven evolution of DNA sequences in humans and apes.</strong> Nature 416: 624-626, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11948348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11948348</a>] [<a href="https://doi.org/10.1038/416624a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11948348">Makova and Li (2002)</a> reported a study suggesting that mutations occur in men at a rate 5 times that in women, lending support to the idea of 'male-driven evolution.' The male bias in mutation rate had been indicated by many studies such as those comparing the substitution rate in homologous (gametologous) genes shared between X and Y and by comparison of substitution rates in a region recently transposed from the X chromosome to the Y chromosome. <a href="#7" class="mim-tip-reference" title="Makova, K. D., Li, W.-H. <strong>Strong male-driven evolution of DNA sequences in humans and apes.</strong> Nature 416: 624-626, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11948348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11948348</a>] [<a href="https://doi.org/10.1038/416624a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11948348">Makova and Li (2002)</a> argued that the bias toward higher male mutation rate in such studies might be flawed owing to the effect of the possibility that a segment transposed to the Y chromosome might already contain polymorphic sites that distinguish it from other X-chromosome sequences. This could imply that some of the mutations interpreted as being of Y-chromosome origin could actually have arisen on the X chromosome, and were polymorphic before the transposition. The effect would be to underestimate the male excess. <a href="#7" class="mim-tip-reference" title="Makova, K. D., Li, W.-H. <strong>Strong male-driven evolution of DNA sequences in humans and apes.</strong> Nature 416: 624-626, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11948348/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11948348</a>] [<a href="https://doi.org/10.1038/416624a" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11948348">Makova and Li (2002)</a> chose to study the DAZ locus, which was transposed from chromosome 3 to the Y chromosome after the split between New World and Old World monkeys. They arrived at an estimate of 5.2 for the male:female ratio, with a large 95% confidence interval (2.44 to infinity). This value was comparable to that obtained in previous comparisons of homologous X-Y genes by <a href="#16" class="mim-tip-reference" title="Shimmin, L. C., Chang, B. H.-J., Li, W.-H. <strong>Male-driven evolution of DNA sequences.</strong> Nature 362: 745-747, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8469284/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8469284</a>] [<a href="https://doi.org/10.1038/362745a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8469284">Shimmin et al. (1993)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=11948348+8469284" 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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Agulnik, A. I., Zharkikh, A., Boettger-Tong, H., Bourgeron, T., McElreavey, K., Bishop, C. E.
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<strong>Evolution of the DAZ gene family suggests that Y-linked DAZ plays little, or a limited, role in spermatogenesis but underlines a recent African origin for human populations.</strong>
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Hum. Molec. Genet. 7: 1371-1377, 1998.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9700189/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9700189</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9700189" 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/7.9.1371" target="_blank">Full Text</a>]
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Anonymous.
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<strong>A missing piece on the Y. (Editorial)</strong>
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Nature Genet. 10: 367-368, 1995.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7670479/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7670479</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7670479" 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/ng0895-367" target="_blank">Full Text</a>]
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Cooke, H. J., Lee, M., Kerr, S., Ruggiu, M.
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<strong>A murine homologue of the human DAZ gene is autosomal and expressed only in male and female gonads.</strong>
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Hum. Molec. Genet. 5: 513-516, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8845845/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8845845</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8845845" 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/5.4.513" target="_blank">Full Text</a>]
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Foresta, C., Garolla, A., Bartoloni, L., Bettella, A., Ferlin, A.
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[<a href="https://doi.org/10.1210/jcem.81.4.8636331" target="_blank">Full Text</a>]
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<br />
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<a id="contributors" class="mim-anchor"></a>
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<span class="mim-text-font">
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<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Ada Hamosh - updated : 12/29/2009
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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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John A. Phillips, III - updated : 4/6/2006<br>Patricia A. Hartz - updated : 7/6/2004<br>Carol A. Bocchini - updated : 12/20/2002<br>Carol A. Bocchini - updated : 12/18/2002<br>Victor A. McKusick - updated : 5/6/2002<br>John A. Phillips, III - updated : 7/12/2001<br>John A. Phillips, III - updated : 7/5/2001<br>John A. Phillips, III - updated : 3/22/2000<br>Victor A. McKusick - updated : 9/17/1998<br>Moyra Smith - updated : 1/31/1997<br>Moyra Smith - updated : 1/17/1997<br>Moyra Smith - updated : 5/15/1996<br>John A. Phillips, III - updated : 4/16/1996
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</span>
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<a id="creationDate" class="mim-anchor"></a>
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Creation Date:
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 1/30/1996
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</span>
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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carol : 09/18/2019
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carol : 09/18/2019<br>carol : 11/17/2010<br>alopez : 7/19/2010<br>alopez : 1/5/2010<br>terry : 12/29/2009<br>carol : 6/28/2007<br>alopez : 4/6/2006<br>carol : 12/14/2004<br>mgross : 7/8/2004<br>terry : 7/6/2004<br>cwells : 12/23/2002<br>carol : 12/20/2002<br>cwells : 12/20/2002<br>carol : 12/18/2002<br>tkritzer : 11/19/2002<br>alopez : 5/6/2002<br>alopez : 5/6/2002<br>alopez : 7/12/2001<br>alopez : 7/5/2001<br>alopez : 6/5/2000<br>mgross : 4/17/2000<br>mgross : 4/14/2000<br>terry : 4/3/2000<br>terry : 3/22/2000<br>mgross : 4/8/1999<br>carol : 9/21/1998<br>terry : 9/17/1998<br>mark : 1/31/1997<br>mark : 1/30/1997<br>jamie : 1/17/1997<br>mark : 11/4/1996<br>terry : 10/31/1996<br>terry : 10/29/1996<br>randy : 8/31/1996<br>terry : 8/30/1996<br>carol : 5/22/1996<br>carol : 5/15/1996<br>joanna : 4/19/1996<br>joanna : 4/16/1996<br>mark : 1/30/1996<br>joanna : 1/30/1996
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<span class="mim-font">
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<strong>*</strong> 400003
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DELETED IN AZOOSPERMIA 1; DAZ1
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<em>Alternative titles; symbols</em>
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DELETED IN AZOOSPERMIA; DAZ
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<strong><em>HGNC Approved Gene Symbol: DAZ1</em></strong>
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Cytogenetic location: Yq11.223
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Genomic coordinates <span class="small">(GRCh38)</span> : Y:23,129,355-23,199,094 </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>Description</strong>
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<p>The DAZ gene encodes an RNA-binding protein with a role in spermatogenesis (summary by Tsui et al., 2000). </p>
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<strong>Cloning and Expression</strong>
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<p>Reijo et al. (1995) found that Y-chromosome deletions in 12 men with azoospermia overlapped, thus defining the locations of gene(s) required for spermatogenesis in the azoospermia factor (AZF) region (see 415000). The region contained a single-copy gene, referred to as DAZ (for 'deleted in azoospermia'), which is transcribed in the adult testis and appears to encode an RNA-binding protein. Reijo et al. (1995) found that DAZ was the only transcription factor consistently deleted in azoospermic males with de novo deletions in the euchromatic portion of Yq. The 12 men with deletions came from a series of 89 men with Sertoli cell-only syndrome or testicular maturation arrest. Some of the nondeletion cases, all of which retained the AZF region, may be found to harbor de novo mutations in DAZ. </p><p>Cooke et al. (1996) postulated that the DAZ gene product may play a role in the germ cell-specific patterns of RNA splicing and storage. The authors isolated the mouse homolog of DAZ. Cooke et al. (1996) reported that the predicted protein product of the mouse homolog is highly homologous to that of the human gene. By RT-PCR analysis, they established that transcripts occur only in mouse germ cells. </p><p>The mouse homolog of the human Y-linked DAZ gene maps to chromosome 17. Reijo et al. (1996) found that nonetheless, the predicted amino acid sequences of the mouse and human gene products are quite similar, especially in their putative RNA-binding domains, and both genes are transcribed predominantly in testes; the mouse gene is transcribed at a lower level in ovaries. Dazh transcripts were not detected in testes of mice that lacked germ cells. In testes of wildtype mice Reijo et al. (1996) detected Dazh transcription 1 day after birth (when the only germ cells are prospermatogonia). Transcription increased steadily as spermatogonial stem cells appeared, plateaued as the first wave of spermatogenic cells entered meiosis (10 days after birth), and remained at this level thereafter. This unique pattern of expression suggested to the investigators that Dazh participates in differentiation, proliferation, or maintenance of germ cell founder populations before, during, and after the pubertal onset of spermatogenesis. Such functions could readily account for the diverse spermatogenic defects observed in human males with AZF deletions. </p>
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<strong>Gene Function</strong>
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<p>Menke et al. (1997) reported that, on in situ hybridization of DAZ transcripts to sections of normal testes, spermatogonia were the source of the most intense signal. Their studies could not rule out the possibility that a portion of the observed signal originated from the autosomal homolog of DAZH. </p><p>Tsui et al. (2000) identified 2 proteins, DAZAP1 (607430) and DAZAP2 (607431), that bind to DAZ and DAZL (601486) mainly through the DAZ repeat region. </p><p>Kee et al. (2009) used a germ cell reporter to quantify and isolate primordial germ cells derived from both male and female human embryonic stem cells. By silencing and overexpressing genes that encode germ cell-specific cytoplasmic RNA-binding proteins (not transcription factors), Kee et al. (2009) modulated human germ cell formation and developmental progression and observed that human DAZL functions in primordial germ cell formation, whereas closely related genes DAZ and BOULE (606165) promote later stages of meiosis and development of haploid gametes. </p>
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<strong>Gene Structure</strong>
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<p>By fluorescence in situ hybridization and characterization of BAC clones, Saxena et al. (2000) identified 4 DAZ genes in 2 clusters, each comprising an inverted pair, in the AZF region of the Y chromosome. Each of the 4 genes contains at least 7 tandem copies of a 2.4-kb repeat unit that encodes 24 amino acids, previously identified by Saxena et al. (1996). DAZ1 is paired with DAZ2 (400026), and DAZ3 (400027) is paired with DAZ4 (400048). Saxena et al. (2000) found that at least 3 of the genes, DAZ1, DAZ2, and DAZ3, are functional. They could not exclude the possibility that the DAZ4 cDNA, which encodes a predicted 579-amino acid protein with a molecular mass of 65 kD, derives from DAZ1. The approximate size of the DAZ1 gene is 65 kb and that of DAZ4, 55 kb. </p>
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<span class="mim-font">
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<strong>Mapping</strong>
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<p>See Anonymous (1995) for a diagram (provided by R. Reijo) of the Y chromosome showing the locations of genes in the pseudoautosomal and the euchromatic regions. </p><p>Cooke et al. (1996) mapped the mouse homolog of DAZ to chromosome 17 at position 25.6 cM by fluorescence in situ hybridization. </p><p>Reijo et al. (1996) mapped Dazh, the mouse homolog of DAZ, to chromosome 17 by fluorescence in situ hybridization. </p>
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<span class="mim-font">
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<strong>Cytogenetics</strong>
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</span>
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<p>Najmabadi et al. (1996) used a sequence tagged site (STS) mapping strategy to examine genomic DNA from 60 infertile men who had idiopathic azoospermia or severe oligospermia. Of the 60 subject DNAs studied with 26 STSs, 11 (18%; 10 azoospermic and 1 oligospermic) did not amplify with 1 or more STSs. Notably, 4 of 11 subjects had microdeletions outside the Yq region from which the DAZ gene was cloned. </p><p>Stuppia et al. (1996) reported molecular analysis in an oligozoospermic male and his father who presented with a morphologically identical deletion of Y:del(Y)(q11). The father had no history of subfertility. Molecular analysis revealed that the deletion in the son was larger than that present in the father. The STSs Y243 and Y269, located in zone E of interval 6 of the Y chromosome, were deleted only in the proband. Both the proband and his father retained RBM1 (400006), sY254, and Y255, which map within the DAZ region in zone D of interval 6. Stuppia et al. (1996) concluded that in oligospermic patients, genes in a region distal to DAZ and RBM1 may be involved in the spermatogenetic process. They also concluded that certain deletions may not necessarily lead to infertility but may make the Y chromosome more susceptible to a second mutation. </p><p>Moro et al. (2000) reported a partial deletion of the DAZ cluster removing all but 1 of the copies. This deletion was found in a patient affected with severe oligozoospermia who had a testicular phenotype characterized by a great quantitative reduction of germ cells (severe hypospermatogenesis). The absence of this deletion in the fertile brother of the patient suggested that this de novo mutation indeed caused the spermatogenic failure. </p><p>To clarify whether cryptorchidism might be the expression of an intrinsic congenital testicular abnormality, Foresta et al. (1999) investigated the frequency of Y chromosome long arm (Yq) microdeletions in unilateral excryptorchid subjects manifesting an important bilateral testiculopathy. Eleven of 40 (27.5%) unilateral excryptorchid patients affected by bilateral testiculopathy and 28 of 110 (25.4%) patients affected by idiopathic severe primary testiculopathy showed Yq microdeletions, whereas no microdeletions were found in all the other subjects, nor in male relatives of patients with deletions. Microdeletions were located in different parts of Yq, including known regions involved in spermatogenesis (DAZ and RBM, AZFa, b, and c) and other loci. No difference in localization of deletions was evident between cryptorchid and idiopathic patients. </p><p>Repping et al. (2004) identified the b2/b3 deletion within the AZFc region of the Y chromosome, in which 2 of the 4 copies of the DAZ gene are deleted. The b2/b3 deletion has no obvious effect on fitness. </p><p>Foresta et al. (2005) hypothesized that infertile men may be more likely than fertile men to have genetic abnormalities. They studied 750 severely oligozoospermic men who were candidates for intracytoplasmic sperm injection and 303 fertile men. Chromosomal aberrations were present in 5.6% of infertile men and 0.3% of controls, and they were in most cases alterations of the sex chromosomes. Y chromosome long-arm microdeletions were detected in 6.0% of infertile men and most frequently included the AZFc region, whereas no cases were found in controls. </p>
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<strong>Evolution</strong>
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<span class="mim-text-font">
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<p>Saxena et al. (1996) reported multiple copies of DAZ (more than 99% identical in DNA sequence) clustered in the AZF region, and a functional DAZ homolog, which they designated DAZH (601486), on human chromosome 3. The entire gene family appeared to be expressed in germ cells. Sequence analysis indicated that the Y-chromosome DAZ cluster arose during primate evolution by (1) transposition of the autosomal gene to the Y; (2) amplification and pruning of exons within the transposed gene; and (3) amplification of the modified gene. The authors stated that these results challenged prevailing views of sex chromosome evolution, suggesting that acquisition of autosomal fertility genes was an important process in Y chromosome evolution. </p><p>The recent transposition to the Y chromosome of the autosomal DAZLA gene (DAZL; 601486), potentially involved in germ cell development, created a unique opportunity to study the rate of Y chromosome evolution and assess the selective forces that may act upon such genes, and provided a new estimate of the male-to-male mutation rate. Agulnik et al. (1998) observed 2 different Y-located DAZ sequences in all Old World monkeys, apes, and humans. Different DAZ copies originate from independent amplification events in each primate lineage. Comparison of autosomal DAZLA and Y-linked DAZ intron sequences gave a new figure for male-to-female mutation rates of alpha(m) = 4. It was found that human DAZ exons and introns are evolving at the same rate, implying neutral genetic drift and the absence of any functional selective pressures. Agulnik et al. (1998) therefore hypothesized that Y-linked DAZ plays little, or a limited, role in human spermatogenesis. The 2 copies of DAZ in man appear to be due to a relatively recent duplication event (55,000 to 200,000 years ago). A worldwide survey of 67 men from 5 continents representing 19 distinct populations showed that most males had both DAZ variants. This implies a common origin for the Y chromosome consistent with a recent 'out of Africa' origin of the human race. </p><p>Makova and Li (2002) reported a study suggesting that mutations occur in men at a rate 5 times that in women, lending support to the idea of 'male-driven evolution.' The male bias in mutation rate had been indicated by many studies such as those comparing the substitution rate in homologous (gametologous) genes shared between X and Y and by comparison of substitution rates in a region recently transposed from the X chromosome to the Y chromosome. Makova and Li (2002) argued that the bias toward higher male mutation rate in such studies might be flawed owing to the effect of the possibility that a segment transposed to the Y chromosome might already contain polymorphic sites that distinguish it from other X-chromosome sequences. This could imply that some of the mutations interpreted as being of Y-chromosome origin could actually have arisen on the X chromosome, and were polymorphic before the transposition. The effect would be to underestimate the male excess. Makova and Li (2002) chose to study the DAZ locus, which was transposed from chromosome 3 to the Y chromosome after the split between New World and Old World monkeys. They arrived at an estimate of 5.2 for the male:female ratio, with a large 95% confidence interval (2.44 to infinity). This value was comparable to that obtained in previous comparisons of homologous X-Y genes by Shimmin et al. (1993). </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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<p />
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</div>
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<ol>
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<p class="mim-text-font">
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Agulnik, A. I., Zharkikh, A., Boettger-Tong, H., Bourgeron, T., McElreavey, K., Bishop, C. E.
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<strong>Evolution of the DAZ gene family suggests that Y-linked DAZ plays little, or a limited, role in spermatogenesis but underlines a recent African origin for human populations.</strong>
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Hum. Molec. Genet. 7: 1371-1377, 1998.
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[PubMed: 9700189]
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[Full Text: https://doi.org/10.1093/hmg/7.9.1371]
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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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Anonymous.
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<strong>A missing piece on the Y. (Editorial)</strong>
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Nature Genet. 10: 367-368, 1995.
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[PubMed: 7670479]
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[Full Text: https://doi.org/10.1038/ng0895-367]
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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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Cooke, H. J., Lee, M., Kerr, S., Ruggiu, M.
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<strong>A murine homologue of the human DAZ gene is autosomal and expressed only in male and female gonads.</strong>
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Hum. Molec. Genet. 5: 513-516, 1996.
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[PubMed: 8845845]
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[Full Text: https://doi.org/10.1093/hmg/5.4.513]
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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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Foresta, C., Garolla, A., Bartoloni, L., Bettella, A., Ferlin, A.
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<strong>Genetic abnormalities among severely oligospermic men who are candidates for intracytoplasmic sperm injection.</strong>
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J. Clin. Endocr. Metab. 90: 152-156, 2005.
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[PubMed: 15509635]
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[Full Text: https://doi.org/10.1210/jc.2004-1469]
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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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Foresta, C., Moro, E., Garolla, A., Onisto, M., Ferlin, A.
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<strong>Y chromosome microdeletions in cryptorchidism and idiopathic infertility.</strong>
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J. Clin. Endocr. Metab. 84: 3660-3665, 1999.
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[PubMed: 10523011]
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[Full Text: https://doi.org/10.1210/jcem.84.10.6077]
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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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Kee, K., Angeles, V. T., Flores, M., Nguyen, H. N., Reijo Pera, R. A.
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<strong>Human DAZL, DAZ and BOULE genes modulate primordial germ-cell and haploid gamete formation.</strong>
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Nature 462: 222-225, 2009.
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[PubMed: 19865085]
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[Full Text: https://doi.org/10.1038/nature08562]
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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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Makova, K. D., Li, W.-H.
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<strong>Strong male-driven evolution of DNA sequences in humans and apes.</strong>
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Nature 416: 624-626, 2002.
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[PubMed: 11948348]
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[Full Text: https://doi.org/10.1038/416624a]
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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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Menke, D. B., Mutter, G. L., Page, D. C.
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<strong>Expression of DAZ, an azoospermia factor candidate, in human spermatogonia. (Letter)</strong>
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Am. J. Hum. Genet. 60: 237-241, 1997.
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Reijo, R., Seligman, J., Dinulos, M. B., Jaffe, T., Brown, L. G., Disteche, C. M., Page, D. C.
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<strong>Mouse autosomal homolog of DAZ, a candidate male sterility gene in humans, is expressed in male germ cells before and after puberty.</strong>
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Genomics 35: 346-352, 1996.
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Repping, S., van Daalen, S. K. M., Korver, C. M., Brown, L. G., Marszalek, J. D., Gianotten, J., Oates, R. D., Silber, S., van der Veen, F., Page, D. C., Rozen, S.
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<strong>A family of human Y chromosomes has dispersed throughout northern Eurasia despite a 1.8-Mb deletion in the azoospermia factor c region.</strong>
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Saxena, R., Brown, L. G., Hawkins, T., Alagappan, R. K., Skaletsky, H., Reeve, M. P., Reijo, R., Rozen, S., Dinulos, M. B., Disteche, C. M., Page, D. C.
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<strong>The DAZ gene cluster on the human Y chromosome arose from an autosomal gene that was transposed, repeatedly amplified and pruned.</strong>
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Ada Hamosh - updated : 12/29/2009<br>John A. Phillips, III - updated : 4/6/2006<br>Patricia A. Hartz - updated : 7/6/2004<br>Carol A. Bocchini - updated : 12/20/2002<br>Carol A. Bocchini - updated : 12/18/2002<br>Victor A. McKusick - updated : 5/6/2002<br>John A. Phillips, III - updated : 7/12/2001<br>John A. Phillips, III - updated : 7/5/2001<br>John A. Phillips, III - updated : 3/22/2000<br>Victor A. McKusick - updated : 9/17/1998<br>Moyra Smith - updated : 1/31/1997<br>Moyra Smith - updated : 1/17/1997<br>Moyra Smith - updated : 5/15/1996<br>John A. Phillips, III - updated : 4/16/1996
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