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Entry
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- *600075 - TATA BOX-BINDING PROTEIN; TBP
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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">*600075</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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<a href="#geneMap"><strong>Gene-Phenotype Relationships</strong></a>
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<li role="presentation">
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<a href="#text"><strong>Text</strong></a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#description">Description</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneFunction">Gene Function</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#biochemicalFeatures">Biochemical Features</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#mapping">Mapping</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#animalModel">Animal Model</a>
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<li role="presentation">
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<a href="#allelicVariants"><strong>Allelic Variants</strong></a>
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</li>
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<li role="presentation" style="margin-left: 1em">
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<a href="/allelicVariants/600075">Table View</a>
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</li>
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<li role="presentation">
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<a href="#references"><strong>References</strong></a>
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</li>
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<li role="presentation">
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<a href="#contributors"><strong>Contributors</strong></a>
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<li role="presentation">
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<a href="#creationDate"><strong>Creation Date</strong></a>
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</li>
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<li role="presentation">
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<a href="#editHistory"><strong>Edit History</strong></a>
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</li>
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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=ENSG00000112592;t=ENST00000392092" 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=6908" 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=600075" 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 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=ENSG00000112592;t=ENST00000392092" 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_001172085,NM_003194" 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_003194" 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=600075" 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=02511&isoform_id=02511_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/TBP" 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/37066,339492,1351223,2897847,4507379,34576916,42521349,48145669,54696182,80474966,80478871,82571689,119567803,119567804,194388082,194390034,209980503,209980505,209980507,209980509,209980511,209980513,209980515,209980517,209980519,209980521,209980523,209980525,209980527,225322936,285026520" 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/P20226" 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=6908" 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=ENSG00000112592;t=ENST00000392092" 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=TBP" 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=TBP" 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+6908" 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/TBP" 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:6908" 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/6908" 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=chr6&hgg_gene=ENST00000392092.7&hgg_start=170554369&hgg_end=170572859&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://medlineplus.gov/genetics/gene/tbp" class="mim-tip-hint" title="Consumer-friendly information about the effects of genetic variation on human health." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'MedlinePlus Genetics', 'domain': 'medlineplus.gov'})">MedlinePlus Genetics</a></div>
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<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=600075[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimVariation">
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<span class="panel-title">
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<span class="small">
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<a href="#mimVariationLinksFold" id="mimVariationLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimVariationLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">▼</span> Variation
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</a>
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</span>
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</span>
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</div>
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<div id="mimVariationLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ncbi.nlm.nih.gov/clinvar?term=600075[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://www.deciphergenomics.org/gene/TBP/overview/clinical-info" class="mim-tip-hint" title="DECIPHER" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'DECIPHER', 'domain': 'DECIPHER'})">DECIPHER</a></div>
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<div><a href="https://gnomad.broadinstitute.org/gene/ENSG00000112592" 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=TBP" class="mim-tip-hint" title="GWAS Central; summary level genotype-to-phenotype information from genetic association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Central', 'domain': 'gwascentral.org'})">GWAS Central </a></div>
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<div><a href="http://www.hgmd.cf.ac.uk/ac/gene.php?gene=TBP" class="mim-tip-hint" title="Human Gene Mutation Database; published mutations causing or associated with human inherited disease; disease-associated/functional polymorphisms." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGMD', 'domain': 'hgmd.cf.ac.uk'})">HGMD</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=TBP&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/PA36352" class="mim-tip-hint" title="Pharmacogenomics Knowledge Base; curated and annotated information regarding the effects of human genetic variations on drug response." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PharmGKB', 'domain': 'pharmgkb.org'})">PharmGKB</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimAnimalModels">
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<span class="panel-title">
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<span class="small">
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<a href="#mimAnimalModelsLinksFold" id="mimAnimalModelsLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimAnimalModelsLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Animal Models</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimAnimalModelsLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.alliancegenome.org/gene/HGNC:11588" class="mim-tip-hint" title="Search Across Species; explore model organism and human comparative genomics." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Alliance Genome', 'domain': 'alliancegenome.org'})">Alliance Genome</a></div>
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<div><a href="https://flybase.org/reports/FBgn0003687.html" class="mim-tip-hint" title="A Database of Drosophila Genes and Genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'FlyBase', 'domain': 'flybase.org'})">FlyBase</a></div>
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<div><a href="https://www.mousephenotype.org/data/genes/MGI:101838" 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/TBP#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:101838" 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/6908/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=6908" 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=WBGene00006542;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030616-563" class="mim-tip-hint" title="The Zebrafish Model Organism Database." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'ZFin', 'domain': 'zfin.org'})">ZFin</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
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<span class="panel-title">
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<span class="small">
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<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<div style="display: table-row">
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<div id="mimCellularPathwaysLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
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<div style="display: table-cell;">Cellular Pathways</div>
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</div>
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</a>
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</span>
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</span>
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</div>
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<div id="mimCellularPathwaysLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.genome.jp/dbget-bin/get_linkdb?-t+pathway+hsa:6908" class="mim-tip-hint" title="Kyoto Encyclopedia of Genes and Genomes; diagrams of signaling pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'KEGG', 'domain': 'genome.jp'})">KEGG</a></div>
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<div><a href="https://reactome.org/content/query?q=TBP&species=Homo+sapiens&types=Reaction&types=Pathway&cluster=true" class="definition" title="Protein-specific information in the context of relevant cellular pathways." target="_blank" onclick="gtag('event', 'mim_outbound', {{'name': 'Reactome', 'domain': 'reactome.org'}})">Reactome</a></div>
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</div>
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</div>
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</div>
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</div>
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</div>
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</div>
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<span>
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<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
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</span>
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</span>
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</div>
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<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
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<div>
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<a id="title" class="mim-anchor"></a>
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<div>
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<a id="number" class="mim-anchor"></a>
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<div class="text-right">
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<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
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<strong>SNOMEDCT:</strong> 719249005<br />
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">ICD+</a>
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</div>
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<div>
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<span class="h3">
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<span class="mim-font mim-tip-hint" title="Gene description">
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<span class="text-danger"><strong>*</strong></span>
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600075
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</span>
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</span>
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</div>
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</div>
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<div>
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<a id="preferredTitle" class="mim-anchor"></a>
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<h3>
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<span class="mim-font">
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TATA BOX-BINDING PROTEIN; TBP
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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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SCA17 GENE
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</span>
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</h4>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<a id="approvedGeneSymbols" class="mim-anchor"></a>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=TBP" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">TBP</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/6/1041?start=-3&limit=10&highlight=1041">6q27</a>
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Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chr6:170554369-170572859&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'})">6:170,554,369-170,572,859</a> </span>
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</em>
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</strong>
|
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<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
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</span>
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</p>
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</div>
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<div>
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<br />
|
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</div>
|
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<div>
|
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<a id="geneMap" class="mim-anchor"></a>
|
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<div style="margin-bottom: 10px;">
|
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<span class="h4 mim-font">
|
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<strong>Gene-Phenotype Relationships</strong>
|
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</span>
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</div>
|
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<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
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<thead>
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<tr class="active">
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<th>
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Location
|
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</th>
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<th>
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Phenotype
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<span class="hidden-sm hidden-xs pull-right">
|
|
<a href="/clinicalSynopsis/table?mimNumber=168600,607136" class="label label-warning" onclick="gtag('event', 'mim_link', {'source': 'Entry', 'destination': 'clinicalSynopsisTable'})">
|
|
View Clinical Synopses
|
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</a>
|
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</span>
|
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</th>
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<th>
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|
Phenotype <br /> MIM number
|
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</th>
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<th>
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Inheritance
|
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</th>
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<th>
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Phenotype <br /> mapping key
|
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</th>
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</tr>
|
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</thead>
|
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<tbody>
|
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|
|
<tr>
|
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<td rowspan="2">
|
|
<span class="mim-font">
|
|
<a href="/geneMap/6/1041?start=-3&limit=10&highlight=1041">
|
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6q27
|
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</a>
|
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</span>
|
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</td>
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<td>
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<span class="mim-font">
|
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{Parkinson disease, susceptibility to}
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/168600"> 168600 </a>
|
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
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<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Multifactorial">Mu</abbr>
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</span>
|
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</td>
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<td>
|
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<span class="mim-font">
|
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<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
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</span>
|
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</td>
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</tr>
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<tr>
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<td>
|
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<span class="mim-font">
|
|
Spinocerebellar ataxia 17
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</span>
|
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</td>
|
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<td>
|
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<span class="mim-font">
|
|
|
|
<a href="/entry/607136"> 607136 </a>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>
|
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</span>
|
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</td>
|
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<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known">3</abbr>
|
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</span>
|
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</td>
|
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</tr>
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</tbody>
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</table>
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</div>
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</div>
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<div>
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<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/600075" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
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<p>The RNA polymerase II transcription factor D (TFIID; see <a href="/entry/313650">313650</a>) is a multisubunit complex essential for the expression of most, if not all, protein-encoding genes. The DNA-binding subunit of TFIID is the TATA box-binding protein (TBP).</p>
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<p>The TBP C-terminal domain of 180 amino acids is well conserved, and this domain is both necessary and sufficient for interaction with DNA and for assembly of the basal transcription apparatus (<a href="#13" class="mim-tip-reference" title="Peterson, M. G., Tanese, N., Pugh, B. F., Tjian, R. <strong>Functional domains and upstream activation properties of cloned human TATA binding protein.</strong> Science 248: 1625-1630, 1990. Note: Erratum: Science 249: 844 only, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2363050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2363050</a>] [<a href="https://doi.org/10.1126/science.2363050" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2363050">Peterson et al., 1990</a>). Contrary to the previously hypothesized existence of a family of genes coding for DNA-binding proteins highly related to TBP, <a href="#15" class="mim-tip-reference" title="Purrello, M., Pietro, C. D., Mirabile, E., Rapisarda, A., Rimini, R., Tine, A., Pavone, L., Motta, S., Grzeschik, K.-H., Sichel, G. <strong>Physical mapping at 6q27 of the locus for the TATA box-binding protein, the DNA-binding subunit of TFIID and a component of SL1 and TFIIIB, strongly suggests that it is single copy in the human genome.</strong> Genomics 22: 94-100, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959796</a>] [<a href="https://doi.org/10.1006/geno.1994.1349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7959796">Purrello et al. (1994)</a> showed that the segment coding for the evolutionarily conserved C-terminal DNA-binding domain is unique. When bound to the TATA box, it has a saddle-like shape, with the concave face contacting DNA and the convex interacting with the other subunits of TFIID, which are called TBP-associated factors (TAFs; see <a href="/entry/600475">600475</a>), with TFIIA (<a href="/entry/600519">600519</a>, <a href="/entry/600520">600520</a>) and TFIIB (<a href="/entry/189963">189963</a>), with the A form of RNA polymerase II CTD, and with positive and negative modulators of basal and activated transcription of class II genes (reviewed by <a href="#12" class="mim-tip-reference" title="Nikolov, D. B., Hu, S.-H., Lin, J., Gasch, A., Hoffmann, A., Horikoshi, M., Chua, N.-H., Roeder, R. G., Burley, S. K. <strong>Crystal structure of TFIID TATA-box binding protein.</strong> Nature 360: 40-46, 1992.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1436073/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1436073</a>] [<a href="https://doi.org/10.1038/360040a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1436073">Nikolov et al., 1992</a>). The N terminus of TBP modulates the DNA-binding activity of the C terminus of the protein. It contains a long string of glutamine codons, which represents a common motif among other proteins involved in transcription, such as SP1 (<a href="/entry/189906">189906</a>) and some homeobox proteins (<a href="#15" class="mim-tip-reference" title="Purrello, M., Pietro, C. D., Mirabile, E., Rapisarda, A., Rimini, R., Tine, A., Pavone, L., Motta, S., Grzeschik, K.-H., Sichel, G. <strong>Physical mapping at 6q27 of the locus for the TATA box-binding protein, the DNA-binding subunit of TFIID and a component of SL1 and TFIIIB, strongly suggests that it is single copy in the human genome.</strong> Genomics 22: 94-100, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959796</a>] [<a href="https://doi.org/10.1006/geno.1994.1349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7959796">Purrello et al., 1994</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7959796+1436073+2363050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<a href="#7" class="mim-tip-reference" title="Juo, Z. S., Kassavetis, G. A., Wang, J., Geiduschek, E. P., Sigler, P. B. <strong>Crystal structure of a transcription factor IIIB core interface ternary complex.</strong> Nature 422: 534-539, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12660736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12660736</a>] [<a href="https://doi.org/10.1038/nature01534" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12660736">Juo et al. (2003)</a> reported a 2.95-angstrom resolution crystal structure of the ternary complex containing BRF1 (<a href="/entry/604902">604902</a>) homology domain II, the conserved region of TBP, and 19 basepairs of U6 (<a href="/entry/180692">180692</a>) promoter DNA. The structure revealed the core interface for assembly of transcription factor IIIB and demonstrated how the loosely packed BRF1 domain achieves remarkable binding specificity with the convex and lateral surfaces of TBP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12660736" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>Using a somatic cell hybrid panel, <a href="#14" class="mim-tip-reference" title="Polymeropoulos, M. H., Rath, D. S., Xiao, H., Merril, C. R. <strong>Trinucleotide repeat polymorphism at the human transcription factor IID gene.</strong> Nucleic Acids Res. 19: 4307 only, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1870994/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1870994</a>] [<a href="https://doi.org/10.1093/nar/19.15.4307" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1870994">Polymeropoulos et al. (1991)</a> tentatively assigned the TBP gene to chromosome 6. By multipoint linkage analysis in CEPH families, <a href="#5" class="mim-tip-reference" title="Imbert, G., Trottier, Y., Beckmann, J., Mandel, J. L. <strong>The gene for the TATA binding protein (TBP) that contains a highly polymorphic protein coding CAG repeat maps to 6q27.</strong> Genomics 21: 667-668, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959752/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959752</a>] [<a href="https://doi.org/10.1006/geno.1994.1335" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7959752">Imbert et al. (1994)</a> mapped the TBP gene to 6q27 by linkage to DNA markers. <a href="#18" class="mim-tip-reference" title="Saito, F., Yamamoto, T., Horikoshi, M., Ikeuchi, T. <strong>Direct mapping of the human TATA box-binding protein (TBP) gene to 6q27 by fluorescence in situ hybridization.</strong> Jpn. J. Hum. Genet. 39: 421-425, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7873754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7873754</a>] [<a href="https://doi.org/10.1007/BF01892387" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7873754">Saito et al. (1994)</a> demonstrated a polymorphic (CAG)n repeat in the N-terminal region of the TBP gene. They reported the localization of the gene to 6q27.05-qter by fluorescence in situ hybridization, using the cDNA clone with or without the (CAG)n repeat as a probe. Using a 3-prime C-terminal domain cDNA probe, <a href="#15" class="mim-tip-reference" title="Purrello, M., Pietro, C. D., Mirabile, E., Rapisarda, A., Rimini, R., Tine, A., Pavone, L., Motta, S., Grzeschik, K.-H., Sichel, G. <strong>Physical mapping at 6q27 of the locus for the TATA box-binding protein, the DNA-binding subunit of TFIID and a component of SL1 and TFIIIB, strongly suggests that it is single copy in the human genome.</strong> Genomics 22: 94-100, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959796/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959796</a>] [<a href="https://doi.org/10.1006/geno.1994.1349" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7959796">Purrello et al. (1994)</a> performed in situ hybridization to localize the TBP locus at 6q27. Segregation analysis with the same probe in a large series of mouse/human somatic cell hybrids confirmed that the TBP locus is a single copy and is localized at chromosome 6q21-ter. <a href="#16" class="mim-tip-reference" title="Rosen, D. R., Trofatter, J. A., Brown, R. H., Jr. <strong>Mapping of the human TATA-binding protein gene (TBP) to chromosome 6qter.</strong> Cytogenet. Cell Genet. 69: 279-280, 1995.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7698028/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7698028</a>] [<a href="https://doi.org/10.1159/000133979" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7698028">Rosen et al. (1995)</a> used oligonucleotide primers flanking a polymorphic stretch of 38 glutamine codons in the 5-prime coding region of the TBP gene to map the TBP gene to 6qter. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7959796+7873754+7698028+1870994+7959752" 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="#24" class="mim-tip-reference" title="Trachtulec, Z., Forejt, J. <strong>Synteny of orthologous genes conserved in mammals, snake, fly, nematode, and fission yeast.</strong> Mammalian Genome 12: 227-231, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11252172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11252172</a>] [<a href="https://doi.org/10.1007/s003350010259" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11252172">Trachtulec and Forejt (2001)</a> reported that in human, mouse, and snake, the PDCD2 (<a href="/entry/600866">600866</a>) and TBP genes are adjacent tail to tail. These 2 genes are linked also in Drosophila and are likewise syntenic in C. elegans and S. pombe. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11252172" 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>TBP is an important general transcription initiation factor (<a href="#8" class="mim-tip-reference" title="Kao, C. C., Lieberman, P. M., Schmidt, M. C., Zhou, Q., Pei, R., Berk, A. J. <strong>Cloning of a transcriptionally active human TATA binding factor.</strong> Science 248: 1646-1650, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2194289/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2194289</a>] [<a href="https://doi.org/10.1126/science.2194289" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2194289">Kao et al., 1990</a>; <a href="#13" class="mim-tip-reference" title="Peterson, M. G., Tanese, N., Pugh, B. F., Tjian, R. <strong>Functional domains and upstream activation properties of cloned human TATA binding protein.</strong> Science 248: 1625-1630, 1990. Note: Erratum: Science 249: 844 only, 1990.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2363050/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2363050</a>] [<a href="https://doi.org/10.1126/science.2363050" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2363050">Peterson et al., 1990</a>; <a href="#3" class="mim-tip-reference" title="Gostout, B., Liu, Q., Sommer, S. S. <strong>'Cryptic' repeating triplets of purines and pyrimidines (cRRY(i)) are frequent and polymorphic: analysis of coding cRRY(i) in the proopiomelanocortin (POMC) and TATA-binding protein (TBP) genes.</strong> Am. J. Hum. Genet. 52: 1182-1190, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8503450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8503450</a>]" pmid="8503450">Gostout et al., 1993</a>). It contains a long polymorphic imperfect CAG repeat corresponding to the polyglutamine region. In a large population study, alleles corresponding to a range of 25 to 42 glutamine residues were detected, with the most common alleles encoding stretches of 32 to 39 glutamines. A gln42 allele was found only once in 2,003 chromosomes (<a href="#3" class="mim-tip-reference" title="Gostout, B., Liu, Q., Sommer, S. S. <strong>'Cryptic' repeating triplets of purines and pyrimidines (cRRY(i)) are frequent and polymorphic: analysis of coding cRRY(i) in the proopiomelanocortin (POMC) and TATA-binding protein (TBP) genes.</strong> Am. J. Hum. Genet. 52: 1182-1190, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8503450/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8503450</a>]" pmid="8503450">Gostout et al., 1993</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=2194289+8503450+2363050" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#5" class="mim-tip-reference" title="Imbert, G., Trottier, Y., Beckmann, J., Mandel, J. L. <strong>The gene for the TATA binding protein (TBP) that contains a highly polymorphic protein coding CAG repeat maps to 6q27.</strong> Genomics 21: 667-668, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959752/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959752</a>] [<a href="https://doi.org/10.1006/geno.1994.1335" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7959752">Imbert et al. (1994)</a> raised the question of a possible role of an expanded CAG repeat region of the TBP gene in some late-onset neurologic disorders. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7959752" 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>Several genes for transcription factors, such as TBP and POU-domain transcription factor (POU1F1; <a href="/entry/173110">173110</a>), contain CAG trinucleotide repeats encoding polyglutamine structures. CAG repeat expansion is known to be the basis of at least 8 hereditary neurodegenerative disorders, including Huntington disease (<a href="/entry/143100">143100</a>), spinocerebellar ataxia-1 (<a href="/entry/164400">164400</a>), and Machado-Joseph disease (<a href="/entry/109150">109150</a>). Since the TBP gene contains particularly long and polymorphic CAG repeats, ranging from 25 to 42, the TBP gene was investigated intensively as a candidate for psychiatric disorders (<a href="#5" class="mim-tip-reference" title="Imbert, G., Trottier, Y., Beckmann, J., Mandel, J. L. <strong>The gene for the TATA binding protein (TBP) that contains a highly polymorphic protein coding CAG repeat maps to 6q27.</strong> Genomics 21: 667-668, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7959752/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7959752</a>] [<a href="https://doi.org/10.1006/geno.1994.1335" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7959752">Imbert et al., 1994</a>; <a href="#17" class="mim-tip-reference" title="Rubinsztein, D. C., Leggo, J., Crow, T. J., DeLisi, L. E., Walsh, C., Jain, S., Paykel, E. S. <strong>Analysis of polyglutamine-coding repeats in the TATA-binding protein in different human populations and in patients with schizophrenia and bipolar affective disorder.</strong> Am. J. Med. Genet. 67: 495-498, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8886170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8886170</a>] [<a href="https://doi.org/10.1002/(SICI)1096-8628(19960920)67:5<495::AID-AJMG12>3.0.CO;2-I" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8886170">Rubinsztein et al., 1996</a>; <a href="#6" class="mim-tip-reference" title="Jones, A. L., Middle, F., Guy, C., Spurlock, G., Cairns, N. J., McGuffin, P., Craddock, N., Owen, M., O'Donovan, M. C. <strong>No evidence for expanded polyglutamine sequences in bipolar disorder and schizophrenia.</strong> Molec. Psychiat. 2: 478-482, 1997.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9399691/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9399691</a>] [<a href="https://doi.org/10.1038/sj.mp.4000297" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9399691">Jones et al., 1997</a>), but no expansion of the CAG repeat was identified. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8886170+7959752+9399691" 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><strong><em>Spinocerebellar Ataxia 17</em></strong></p><p>
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In a 14-year-old Japanese girl with spinocerebellar ataxia 17 (SCA17; <a href="/entry/607136">607136</a>), <a href="#9" class="mim-tip-reference" title="Koide, R., Kobayashi, S., Shimohata, T., Ikeuchi, T., Maruyama, M., Saito, M., Yamada, M., Takahashi, H., Tsuji, S. <strong>A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?</strong> Hum. Molec. Genet. 8: 2047-2053, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10484774/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10484774</a>] [<a href="https://doi.org/10.1093/hmg/8.11.2047" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10484774">Koide et al. (1999)</a> identified a de novo expansion of the CAG repeat of the TBP gene (<a href="#0001">600075.0001</a>). The mutated TBP, which had an expanded polyglutamine stretch of 63 glutamines, was expressed in lymphoblastoid cell lines at a level comparable with that of wildtype TBP. The CAG repeat of the TBP gene consisted of impure CAG repeat, and the de novo expansion involved partial duplication of the CAG repeat. The patient was noted at age 6 to have gait disturbance and intellectual deterioration. By age 9, she showed truncal ataxia, spasticity, and muscle weakness. She was confined to a wheelchair at age 13. The mutation had occurred on the chromosome inherited from her father. She was identified from a larger group of 118 patients with various forms of neurologic disease. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10484774" 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="#27" class="mim-tip-reference" title="Zuhlke, C., Hellenbroich, Y., Dalski, A., Kononowa, N., Hagenah, J., Vieregge, P., Riess, O., Klein, C., Schwinger, E. <strong>Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia.</strong> Europ. J. Hum. Genet. 9: 160-164, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11313753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11313753</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200617" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11313753">Zuhlke et al. (2001)</a> confirmed the report of a polyglutamine disease due to (CAG)n repeat expansion in the TBP gene. They investigated 604 patients (469 sporadic and 135 familial cases) with ataxia and gait disturbances in whom repeat expansions of previously identified genes had been excluded and found repeat expansion in the TBP gene in 2 families of northern German origin with autosomal dominant inheritance of ataxia, dystonia, and intellectual decline. A marked intra- and interfamilial phenotypic variability was observed. Elongated polyglutamine stretches between 50 and 55 residues were demonstrated, whereas 15 different normal alleles contained 27 to a maximum of 44 triplets. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11313753" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In patients with a Huntington disease-like phenotype (HDL4; <a href="/entry/607136">607136</a>), <a href="#21" class="mim-tip-reference" title="Stevanin, G., Fujigasaki, H., Lebre, A.-S., Camuzat, A., Jeannequin, C., Dode, C., Takahashi, J., San, C., Bellance, R., Brice, A., Durr, A. <strong>Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes.</strong> Brain 126: 1599-1603, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12805114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12805114</a>] [<a href="https://doi.org/10.1093/brain/awg155" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12805114">Stevanin et al. (2003)</a>, <a href="#1" class="mim-tip-reference" title="Bauer, P., Laccone, F., Rolfs, A., Wullner, U., Bosch, S., Peters, H., Liebscher, S., Scheible, M., Epplen, J. T., Weber, B. H. F., Holinski-Feder, E., Weirich-Schwaiger, H., Morris-Rosendahl, D. J., Andrich, J., Riess, O. <strong>Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype.</strong> J. Med. Genet. 41: 230-232, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14985389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14985389</a>] [<a href="https://doi.org/10.1136/jmg.2003.015602" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14985389">Bauer et al. (2004)</a>, and <a href="#23" class="mim-tip-reference" title="Toyoshima, Y., Yamada, M., Onodera, O., Shimohata, M., Inenaga, C., Fujita, N., Morita, M., Tsuji, S., Takahashi, H. <strong>SCA17 homozygote showing Huntington's disease-like phenotype.</strong> Ann. Neurol. 55: 281-286, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14755733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14755733</a>] [<a href="https://doi.org/10.1002/ana.10824" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14755733">Toyoshima et al. (2004)</a> identified repeat expansions in the TBP gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12805114+14985389+14755733" 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="#20" class="mim-tip-reference" title="Shatunov, A., Fridman, E. A., Pagan, F. L., Leib, J., Singleton, A., Hallett, M., Goldfarb, L. G. <strong>Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease.</strong> Clin. Genet. 66: 496-501, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15521976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15521976</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2004.00356.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15521976">Shatunov et al. (2004)</a> described a 20-year-old North American patient who developed rapidly progressive cognitive decline and pronounced ataxia who had a 129M/M PRNP genotype (<a href="/entry/176640#0005">176640.0005</a>) and was originally thought to have variant Creutzfeldt-Jacob disease (vCJD; see <a href="/entry/123400">123400</a>). Further studies, however, showed that the patient had an expanded allele with 55 CAG/CAA repeats in the TBP gene. The patient's unaffected parents and sibs showed normal-sized TBP alleles with 37 to 38 repeats. Haplotype and nucleotide sequence analyses indicated that the mutation had occurred de novo on a chromosome inherited from the father. <a href="#20" class="mim-tip-reference" title="Shatunov, A., Fridman, E. A., Pagan, F. L., Leib, J., Singleton, A., Hallett, M., Goldfarb, L. G. <strong>Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease.</strong> Clin. Genet. 66: 496-501, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15521976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15521976</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2004.00356.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15521976">Shatunov et al. (2004)</a> suggested that variant CJD should be added to the list of disorders tested for the TBP trinucleotide expansion. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15521976" 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="#22" class="mim-tip-reference" title="Tomiuk, J., Bachmann, L., Bauer, C., Rolfs, A., Schols, L., Roos, C., Zischler, H., Schuler, M. M., Bruntner, S., Riess, O., Bauer, P. <strong>Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach.</strong> Europ. J. Hum. Genet. 15: 81-87, 2007. Note: Erratum: Europ. J. Hum. Genet. 16: 661 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17033685/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17033685</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201721" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17033685">Tomiuk et al. (2007)</a> analyzed the microsatellite region of the TBP gene in 10 unrelated German SCA17 patients, 30 unaffected members of 10 SCA17 families, 15 controls, and 10 previously published SCA17 families, as well as the homologous regions in 10 primate species. They showed that the characteristic CAA-CAG-CAA interruption pattern was conserved and likely to result from selection for stabilizing the microsatellite. Comparison of the microsatellite region across primate species showed that SCA17 is likely to be a human trait, with the most common 37-repeat allele acting as a repository for expanded, pathogenic alleles. <a href="#22" class="mim-tip-reference" title="Tomiuk, J., Bachmann, L., Bauer, C., Rolfs, A., Schols, L., Roos, C., Zischler, H., Schuler, M. M., Bruntner, S., Riess, O., Bauer, P. <strong>Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach.</strong> Europ. J. Hum. Genet. 15: 81-87, 2007. Note: Erratum: Europ. J. Hum. Genet. 16: 661 only, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17033685/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17033685</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201721" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17033685">Tomiuk et al. (2007)</a> concluded that the cassette-like structure of 5 out of 17 expanded alleles can be attributed to unequal crossing over, thus explaining the rare and sporadic de novo generation of SCA17 alleles. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17033685" 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="#2" class="mim-tip-reference" title="Gao, R., Matsuura, T., Coolbaugh, M., Zuhlke, C., Nakamura, K., Rasmussen, A., Siciliano, M. J., Ashizawa, T., Lin, X. <strong>Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17.</strong> Europ. J. Hum. Genet. 16: 215-222, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18043721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18043721</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201954" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18043721">Gao et al. (2008)</a> used small pool PCR to compared somatic instability of expanded CAG repeats in 1 Mexican, 4 Japanese, and 2 German SCA17 families. CAG repeats had 2 distinct configurations: complex or group I consisting of (CAG)3 (CAA)3 (CAG)n1 CAA-CAG-CAA (CAG)n2 CAA-CAG ('n1' from 7 to 11 and 'n2' from 9 to 21) and simple or group II consisting of (CAG)3 (CAA)3 (CAG)n1 CAA-CAG ('n1' from 42 to 47). Both CAG and CAA in these repeat tracts code for glutamine. Group I mutations were prone to contraction, whereas group II mutations were prone to continuing expansion. Analysis of individual alleles showed a correlation between mutation frequency and the number of CAG/CAA repeats (0.76), but the difference between the 2 groups was no significant. However, there was a strong correlation between the configuration of the CAG/CAA repeat and instability: those with more CAA interruptions showed more stability, whereas those with less or no CAA interruptions showed more instability. These changes also correlated with intergenerational instability and anticipation in regard to age at onset. Of note, the pure CAG repeats showed both expansion and contraction, while the interrupted repeats exhibited mostly contraction at a significantly lower frequency. <a href="#2" class="mim-tip-reference" title="Gao, R., Matsuura, T., Coolbaugh, M., Zuhlke, C., Nakamura, K., Rasmussen, A., Siciliano, M. J., Ashizawa, T., Lin, X. <strong>Instability of expanded CAG/CAA repeats in spinocerebellar ataxia type 17.</strong> Europ. J. Hum. Genet. 16: 215-222, 2008.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/18043721/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">18043721</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5201954" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="18043721">Gao et al. (2008)</a> suggested that repeat configuration is a critical determinant for instability, and that CAA interruptions (i.e., CAA-CAG-CAA or domain 3) might serve as a limiting element for further expansion of CAG repeats at the SCA17 locus. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=18043721" 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><strong><em>Susceptibility to Parkinson Disease</em></strong></p><p>
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In a patient with Parkinson disease (<a href="/entry/168600">168600</a>) from Taiwan, <a href="#26" class="mim-tip-reference" title="Wu, Y. R., Lin, H. Y., Chen, C. M., Gwinn-Hardy, K., Ro, L. S., Wang, Y. C., Li, S. H., Hwang, J. C., Fang, K., Hsieh-Li, H. M., Li, M. L., Tung, L. C., Su, M. T., Lu, K. T., Lee-Chen, G. J. <strong>Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease.</strong> Clin. Genet. 65: 209-214, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14756671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14756671</a>] [<a href="https://doi.org/10.1111/j.0009-9163.2004.00213.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14756671">Wu et al. (2004)</a> detected an abnormal trinucleotide repeat expansion (46 repeats) in the SCA17 gene. The patient presented with typical features of idiopathic PD: late onset of disease, resting tremor in the limbs, rigidity, bradykinesia, and a good response to levodopa. The authors noted that this was the first report describing PD in association with an expanded allele in the TBP gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14756671" 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="#25" class="mim-tip-reference" title="Veenstra, G. J. C., Weeks, D. L., Wolffe, A. P. <strong>Distinct roles for TBP and TBP-like factor in early embryonic gene transcription in Xenopus.</strong> Science 290: 2312-2314, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11125147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11125147</a>] [<a href="https://doi.org/10.1126/science.290.5500.2312" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11125147">Veenstra et al. (2000)</a> tested the role of Tbp during the onset of embryonic transcription in Xenopus by antisense oligonucleotide-mediated turnover of maternal Tbp mRNA. Embryos without detectable Tbp initiated gastrulation but died before completing gastrulation. The expression of many genes transcribed by RNA polymerase II and III was reduced; however, some genes were transcribed with an efficiency identical to that of Tbp-containing embryos. Using a similar antisense strategy, <a href="#25" class="mim-tip-reference" title="Veenstra, G. J. C., Weeks, D. L., Wolffe, A. P. <strong>Distinct roles for TBP and TBP-like factor in early embryonic gene transcription in Xenopus.</strong> Science 290: 2312-2314, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11125147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11125147</a>] [<a href="https://doi.org/10.1126/science.290.5500.2312" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11125147">Veenstra et al. (2000)</a> found that the TBP-like factor Tlf/Trf2 (TBPL1; <a href="/entry/605521">605521</a>) was essential for development past the midblastula stage. Because TBP and a TLF factor were found to play complementary roles in embryonic development, <a href="#25" class="mim-tip-reference" title="Veenstra, G. J. C., Weeks, D. L., Wolffe, A. P. <strong>Distinct roles for TBP and TBP-like factor in early embryonic gene transcription in Xenopus.</strong> Science 290: 2312-2314, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11125147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11125147</a>] [<a href="https://doi.org/10.1126/science.290.5500.2312" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11125147">Veenstra et al. (2000)</a> concluded that their results indicate that although similar mechanistic roles exist in common, TBP and TLF function differentially to control transcription of specific genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11125147" 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>Mammalian TBP consists of a 180-amino acid core that is common to all eukaryotes fused to a vertebrate-specific N-terminal domain. <a href="#4" class="mim-tip-reference" title="Hobbs, N. K., Bondareva, A. A., Barnett, S., Capecchi, M. R., Schmidt, E. E. <strong>Removing the vertebrate-specific TBP N terminus disrupts placental beta-2M-dependent interactions with the maternal immune system.</strong> Cell 110: 43-54, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12150996/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12150996</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12150996[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/s0092-8674(02)00806-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12150996">Hobbs et al. (2002)</a> generated mice with a modified Tbp allele, designated Tbp delta-N, that produced a version of Tbp lacking 111 of the 135 vertebrate-specific amino acids. More than 90% of Tbp delta-N/delta-N fetuses died in midgestation from an apparent defect in the placenta. Tbp delta-N/delta-N fetuses could be rescued by supplying them with a wildtype tetraploid placenta. Mutants also could be rescued by rearing them in immunocompromised mothers. In immune-competent mothers, survival of Tbp delta-N/delta-N fetuses increased when fetal/placental beta-2-microglobulin (B2M; <a href="/entry/109700">109700</a>) expression was genetically disrupted. These results suggested that the TBP N terminus functions in transcriptional regulation of a placental B2M-dependent process that favors maternal immunotolerance of pregnancy. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12150996" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="Martianov, I., Viville, S., Davidson, I. <strong>RNA polymerase II transcription in murine cells lacking the TATA binding protein.</strong> Science 298: 1036-1039, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12411709/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12411709</a>] [<a href="https://doi.org/10.1126/science.1076327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12411709">Martianov et al. (2002)</a> inactivated the murine Tbp gene by targeted disruption. Tbp +/- mice were born in the expected mendelian frequency and were of normal size and weight, displayed no obvious abnormalities, and were fertile. Crossing TBP heterozygote mice failed to generate viable newborn homozygous mutant mice. However, at 3.5 days postcoitum (E3.5), an approximately mendelian ratio of Tbp -/- mice could be detected with PCR. When examined by immunofluorescence for expression of the Tbp protein, blastocysts were detected that were totally negative for Tbp labeling. TBP was absent in explanted blastocysts grown for 1 day in vitro. Strongly reduced Tbp levels were also detected at E2.5 in 8 cell-stage embryos, which indicates that the maternal Tbp pool was significantly depleted at this stage and was undetectable by the blastocyst stage. Blastocysts from Tbp heterozygote crosses were explanted at E3.5 and cultivated in vitro. Approximately 25% of the blastocysts rapidly ceased growth and died, whereas the others hatched from the zona pellucida and continued to develop. After 2 days, extensive apoptosis was observed in the growth-arrested Tbp homozygous mutant embryos. Embryos staining negatively for Tbp were also recovered at E4.5. These embryos typically comprised 30 to 40 cells, fewer than normally seen in wildtype E3.5 blastocysts, indicating that growth arrest occurred before E3.5, just as Tbp levels became undetectable. <a href="#10" class="mim-tip-reference" title="Martianov, I., Viville, S., Davidson, I. <strong>RNA polymerase II transcription in murine cells lacking the TATA binding protein.</strong> Science 298: 1036-1039, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12411709/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12411709</a>] [<a href="https://doi.org/10.1126/science.1076327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12411709">Martianov et al. (2002)</a> found that after loss of Tbp, RNA polymerase II (pol II; see <a href="/entry/180660">180660</a>) remained in a transcriptionally active phosphorylation state, and in situ run-off experiments showed high levels of pol II transcription compared to those of wildtype cells. In contrast, pol I and pol III transcription was arrested. <a href="#10" class="mim-tip-reference" title="Martianov, I., Viville, S., Davidson, I. <strong>RNA polymerase II transcription in murine cells lacking the TATA binding protein.</strong> Science 298: 1036-1039, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12411709/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12411709</a>] [<a href="https://doi.org/10.1126/science.1076327" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12411709">Martianov et al. (2002)</a> concluded that their results show a differential dependency of the RNA polymerases on TBP and provide evidence for TBP-independent pol II transcriptional mechanisms that allow reinitiation and maintenance of gene transcription in vivo. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12411709" 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="#19" class="mim-tip-reference" title="Shah, A. G., Friedman, M. J., Huang, S., Roberts, M., Li, X.-J., Li, S. <strong>Transcriptional dysregulation of TrkA associates with neurodegeneration in spinocerebellar ataxia type 17.</strong> Hum. Molec. Genet. 18: 4141-4152, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19643914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19643914</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19643914[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19643914">Shah et al. (2009)</a> characterized cellular and mouse models expressing polyQ-expanded TBP. The rat PC12 cellular model exhibited characteristic features of neuronal dysfunction, including decreased cell viability and defective neurite outgrowth. The high-affinity nerve growth factor receptor, Trka (NTRK1; <a href="/entry/191315">191315</a>), was downregulated by mutant TBP in PC12 cells. Downregulation of Trka also occurred in the cerebellum of SCA17 transgenic mice prior to Purkinje cell degeneration. Mutant TBP bound more Sp1 (<a href="/entry/189906">189906</a>), reduced its occupancy of the Trka promoter and inhibited the activity of the Trka promoter. <a href="#19" class="mim-tip-reference" title="Shah, A. G., Friedman, M. J., Huang, S., Roberts, M., Li, X.-J., Li, S. <strong>Transcriptional dysregulation of TrkA associates with neurodegeneration in spinocerebellar ataxia type 17.</strong> Hum. Molec. Genet. 18: 4141-4152, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19643914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19643914</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19643914[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1093/hmg/ddp363" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19643914">Shah et al. (2009)</a> suggested that the transcriptional downregulation of TRKA by mutant TBP may contribute to SCA17 pathogenesis. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19643914" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#9" class="mim-tip-reference" title="Koide, R., Kobayashi, S., Shimohata, T., Ikeuchi, T., Maruyama, M., Saito, M., Yamada, M., Takahashi, H., Tsuji, S. <strong>A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease?</strong> Hum. Molec. Genet. 8: 2047-2053, 1999.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10484774/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10484774</a>] [<a href="https://doi.org/10.1093/hmg/8.11.2047" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10484774">Koide et al. (1999)</a> described a sporadic case of a complex neurologic disorder with cerebellar ataxia, pyramidal signs, and severe intellectual impairment (SCA17; <a href="/entry/607136">607136</a>) associated with expansion of the CAG repeat of the TBP gene. The gene encoded 63 glutamines, far exceeding the range in normal individuals (25 to 42 in Caucasians; 31 to 42 in Japanese). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10484774" 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="#27" class="mim-tip-reference" title="Zuhlke, C., Hellenbroich, Y., Dalski, A., Kononowa, N., Hagenah, J., Vieregge, P., Riess, O., Klein, C., Schwinger, E. <strong>Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia.</strong> Europ. J. Hum. Genet. 9: 160-164, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11313753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11313753</a>] [<a href="https://doi.org/10.1038/sj.ejhg.5200617" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11313753">Zuhlke et al. (2001)</a> described 2 German families with an autosomal dominant degenerative multisystem disorder with predominant ataxia and intellectual impairment but also involvement of the pyramidal, extrapyramidal, and possibly autonomic system (<a href="/entry/607136">607136</a>). Expanded (CAG)n alleles of the TBP gene ranged between 50 and 55 residues in affected individuals. In 1 family, 2 affected sisters differed by 1 trinucleotide repeat, and upon transmission from one of the sisters to her daughter the repeat was elongated by 2 units. This expansion may have contributed to the earlier age of onset in the daughter. In the other family, the (CAG)n element was combined with CAA interruptions, which had not been described for CAG expansions in other genes. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11313753" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#11" class="mim-tip-reference" title="Nakamura, K., Jeong, S.-Y., Uchihara, T., Anno, M., Nagashima, K., Nagashima, T., Ikeda, S., Tsuji, S., Kanazawa, I. <strong>SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein.</strong> Hum. Molec. Genet. 10: 1441-1448, 2001.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11448935/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11448935</a>] [<a href="https://doi.org/10.1093/hmg/10.14.1441" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11448935">Nakamura et al. (2001)</a> identified a form of spinocerebellar ataxia- 17 in 4 Japanese pedigrees which was caused by an abnormal (CAG)n expansion in TBP to a range of 47 to 55 repeats. Age at onset ranged from 19 to 48 years, and symptoms included ataxia, bradykinesia, and dementia. Postmortem brain tissue from 1 patient exhibited shrinkage and moderate loss of small neurons with gliosis predominantly in the caudate nucleus and putamen, with similar but moderate changes in the thalamus, frontal cortex, and temporal cortex. Moderate Purkinje cell loss and an increase of Bergmann glia were seen in the cerebellum. Immunocytochemical analysis performed with anti-ubiquitin (<a href="/entry/191339">191339</a>) and anti-TBP antibodies showed neuronal intranuclear inclusion bodies, and most neuronal nuclei were diffusely stained with 1C2 antibody, which recognizes expanded polyglutamine tracts. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11448935" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In a total of 12 patients with a Huntington disease-like phenotype (<a href="/entry/607136">607136</a>), <a href="#21" class="mim-tip-reference" title="Stevanin, G., Fujigasaki, H., Lebre, A.-S., Camuzat, A., Jeannequin, C., Dode, C., Takahashi, J., San, C., Bellance, R., Brice, A., Durr, A. <strong>Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes.</strong> Brain 126: 1599-1603, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12805114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12805114</a>] [<a href="https://doi.org/10.1093/brain/awg155" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12805114">Stevanin et al. (2003)</a>, <a href="#1" class="mim-tip-reference" title="Bauer, P., Laccone, F., Rolfs, A., Wullner, U., Bosch, S., Peters, H., Liebscher, S., Scheible, M., Epplen, J. T., Weber, B. H. F., Holinski-Feder, E., Weirich-Schwaiger, H., Morris-Rosendahl, D. J., Andrich, J., Riess, O. <strong>Trinucleotide repeat expansion in SCA17/TBP in white patients with Huntington's disease-like phenotype.</strong> J. Med. Genet. 41: 230-232, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14985389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14985389</a>] [<a href="https://doi.org/10.1136/jmg.2003.015602" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14985389">Bauer et al. (2004)</a>, and <a href="#23" class="mim-tip-reference" title="Toyoshima, Y., Yamada, M., Onodera, O., Shimohata, M., Inenaga, C., Fujita, N., Morita, M., Tsuji, S., Takahashi, H. <strong>SCA17 homozygote showing Huntington's disease-like phenotype.</strong> Ann. Neurol. 55: 281-286, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14755733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14755733</a>] [<a href="https://doi.org/10.1002/ana.10824" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14755733">Toyoshima et al. (2004)</a> identified expanded trinucleotide repeats, ranging from 44 to 52 repeats, in the TBP gene. Clinical features were indistinguishable from Huntington disease, including behavioral changes progressing to dementia, chorea, cerebellar gait, lower limb hyperreflexia, and pontocerebellar atrophy. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12805114+14985389+14755733" 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="#20" class="mim-tip-reference" title="Shatunov, A., Fridman, E. A., Pagan, F. L., Leib, J., Singleton, A., Hallett, M., Goldfarb, L. G. <strong>Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease.</strong> Clin. Genet. 66: 496-501, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15521976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15521976</a>] [<a href="https://doi.org/10.1111/j.1399-0004.2004.00356.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15521976">Shatunov et al. (2004)</a> described a 20-year-old patient who developed rapidly progressive cognitive decline and pronounced ataxia, a phenotype compatible with prion disease. No mutation was found in the PRNP gene (<a href="/entry/176640">176640</a>), and the patient was found to have a de novo increase of the trinucleotide repeat number in the coding region of the TBP gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15521976" 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>Susceptibility to Parkinson Disease</p><p>In a patient with Parkinson disease (<a href="/entry/168600">168600</a>) from Taiwan, <a href="#26" class="mim-tip-reference" title="Wu, Y. R., Lin, H. Y., Chen, C. M., Gwinn-Hardy, K., Ro, L. S., Wang, Y. C., Li, S. H., Hwang, J. C., Fang, K., Hsieh-Li, H. M., Li, M. L., Tung, L. C., Su, M. T., Lu, K. T., Lee-Chen, G. J. <strong>Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease.</strong> Clin. Genet. 65: 209-214, 2004.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14756671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14756671</a>] [<a href="https://doi.org/10.1111/j.0009-9163.2004.00213.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14756671">Wu et al. (2004)</a> detected an abnormal trinucleotide repeat expansion (46 repeats) in the SCA17 gene. The patient presented with typical features of idiopathic PD: late onset of disease, resting tremor in the limbs, rigidity, bradykinesia, and a good response to levodopa. The authors noted that this was the first report describing PD in association with an expanded allele in the TBP gene. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14756671" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<strong>REFERENCES</strong>
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[<a href="https://doi.org/10.1016/s0092-8674(02)00806-1" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1006/geno.1994.1335" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/sj.mp.4000297" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/nature01534" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.2194289" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.1076327" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/hmg/10.14.1441" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1038/360040a0" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1126/science.2363050" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1093/nar/19.15.4307" target="_blank">Full Text</a>]
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<strong>Physical mapping at 6q27 of the locus for the TATA box-binding protein, the DNA-binding subunit of TFIID and a component of SL1 and TFIIIB, strongly suggests that it is single copy in the human genome.</strong>
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[<a href="https://doi.org/10.1006/geno.1994.1349" target="_blank">Full Text</a>]
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[<a href="https://doi.org/10.1159/000133979" target="_blank">Full Text</a>]
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<a id="Rubinsztein1996" class="mim-anchor"></a>
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8886170/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8886170</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8886170" 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/10.1002/(SICI)1096-8628(19960920)67:5<495::AID-AJMG12>3.0.CO;2-I" target="_blank">Full Text</a>]
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<a id="18" class="mim-anchor"></a>
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<a id="Saito1994" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Saito, F., Yamamoto, T., Horikoshi, M., Ikeuchi, T.
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<strong>Direct mapping of the human TATA box-binding protein (TBP) gene to 6q27 by fluorescence in situ hybridization.</strong>
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Jpn. J. Hum. Genet. 39: 421-425, 1994.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7873754/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7873754</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7873754" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/BF01892387" target="_blank">Full Text</a>]
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<a id="19" class="mim-anchor"></a>
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<a id="Shah2009" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shah, A. G., Friedman, M. J., Huang, S., Roberts, M., Li, X.-J., Li, S.
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<strong>Transcriptional dysregulation of TrkA associates with neurodegeneration in spinocerebellar ataxia type 17.</strong>
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Hum. Molec. Genet. 18: 4141-4152, 2009.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19643914/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19643914</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=19643914[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19643914" 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/ddp363" target="_blank">Full Text</a>]
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<a id="20" class="mim-anchor"></a>
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<a id="Shatunov2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Shatunov, A., Fridman, E. A., Pagan, F. L., Leib, J., Singleton, A., Hallett, M., Goldfarb, L. G.
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<strong>Small de novo duplication in the repeat region of the TATA-box-binding protein gene manifest with a phenotype similar to variant Creutzfeldt-Jakob disease.</strong>
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Clin. Genet. 66: 496-501, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15521976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15521976</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15521976" 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/10.1111/j.1399-0004.2004.00356.x" target="_blank">Full Text</a>]
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<li>
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<a id="21" class="mim-anchor"></a>
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<a id="Stevanin2003" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Stevanin, G., Fujigasaki, H., Lebre, A.-S., Camuzat, A., Jeannequin, C., Dode, C., Takahashi, J., San, C., Bellance, R., Brice, A., Durr, A.
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<strong>Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes.</strong>
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Brain 126: 1599-1603, 2003.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12805114/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12805114</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12805114" 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/brain/awg155" target="_blank">Full Text</a>]
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<a id="22" class="mim-anchor"></a>
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<a id="Tomiuk2007" class="mim-anchor"></a>
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Tomiuk, J., Bachmann, L., Bauer, C., Rolfs, A., Schols, L., Roos, C., Zischler, H., Schuler, M. M., Bruntner, S., Riess, O., Bauer, P.
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<strong>Repeat expansion in spinocerebellar ataxia type 17 alleles of the TATA-box binding protein gene: an evolutionary approach.</strong>
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Europ. J. Hum. Genet. 15: 81-87, 2007. Note: Erratum: Europ. J. Hum. Genet. 16: 661 only, 2008.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17033685/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17033685</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17033685" 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/sj.ejhg.5201721" target="_blank">Full Text</a>]
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<a id="23" class="mim-anchor"></a>
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<a id="Toyoshima2004" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Toyoshima, Y., Yamada, M., Onodera, O., Shimohata, M., Inenaga, C., Fujita, N., Morita, M., Tsuji, S., Takahashi, H.
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<strong>SCA17 homozygote showing Huntington's disease-like phenotype.</strong>
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Ann. Neurol. 55: 281-286, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14755733/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14755733</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14755733" 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/10.1002/ana.10824" target="_blank">Full Text</a>]
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<a id="24" class="mim-anchor"></a>
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<a id="Trachtulec2001" class="mim-anchor"></a>
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<div class="">
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Trachtulec, Z., Forejt, J.
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<strong>Synteny of orthologous genes conserved in mammals, snake, fly, nematode, and fission yeast.</strong>
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Mammalian Genome 12: 227-231, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11252172/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11252172</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11252172" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1007/s003350010259" target="_blank">Full Text</a>]
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<a id="25" class="mim-anchor"></a>
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<a id="Veenstra2000" class="mim-anchor"></a>
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<div class="">
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<p class="mim-text-font">
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Veenstra, G. J. C., Weeks, D. L., Wolffe, A. P.
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<strong>Distinct roles for TBP and TBP-like factor in early embryonic gene transcription in Xenopus.</strong>
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Science 290: 2312-2314, 2000.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11125147/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11125147</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11125147" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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[<a href="https://doi.org/10.1126/science.290.5500.2312" target="_blank">Full Text</a>]
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<a id="26" class="mim-anchor"></a>
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<a id="Wu2004" class="mim-anchor"></a>
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Wu, Y. R., Lin, H. Y., Chen, C. M., Gwinn-Hardy, K., Ro, L. S., Wang, Y. C., Li, S. H., Hwang, J. C., Fang, K., Hsieh-Li, H. M., Li, M. L., Tung, L. C., Su, M. T., Lu, K. T., Lee-Chen, G. J.
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<strong>Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease.</strong>
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Clin. Genet. 65: 209-214, 2004.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14756671/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14756671</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14756671" 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/10.1111/j.0009-9163.2004.00213.x" target="_blank">Full Text</a>]
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<a id="27" class="mim-anchor"></a>
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<a id="Zuhlke2001" class="mim-anchor"></a>
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<div class="">
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Zuhlke, C., Hellenbroich, Y., Dalski, A., Kononowa, N., Hagenah, J., Vieregge, P., Riess, O., Klein, C., Schwinger, E.
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<strong>Different types of repeat expansion in the TATA-binding protein gene are associated with a new form of inherited ataxia.</strong>
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Europ. J. Hum. Genet. 9: 160-164, 2001.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11313753/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11313753</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11313753" 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/sj.ejhg.5200617" target="_blank">Full Text</a>]
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<br />
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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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George E. Tiller - updated : 9/30/2010
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Cassandra L. Kniffin - updated : 2/5/2010<br>Marla J. F. O'Neill - updated : 2/1/2008<br>Victor A. McKusick - updated : 3/31/2005<br>Cassandra L. Kniffin - updated : 5/19/2004<br>Victor A. McKusick - updated : 2/25/2004<br>Ada Hamosh - updated : 4/2/2003<br>Ada Hamosh - updated : 11/13/2002<br>Cassandra L. Kniffin - reorganized : 8/12/2002<br>Stylianos E. Antonarakis - updated : 7/29/2002<br>George E. Tiller - updated : 12/6/2001<br>Michael B. Petersen - updated : 8/23/2001<br>Victor A. McKusick - updated : 6/4/2001<br>Ada Hamosh - updated : 1/5/2001<br>Victor A. McKusick - updated : 10/25/1999
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Creation Date:
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<span class="mim-text-font">
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Victor A. McKusick : 8/5/1994
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alopez : 10/31/2019
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terry : 12/21/2012<br>ckniffin : 11/16/2010<br>wwang : 10/15/2010<br>terry : 9/30/2010<br>wwang : 2/5/2010<br>wwang : 2/5/2010<br>wwang : 12/16/2008<br>wwang : 2/4/2008<br>terry : 2/1/2008<br>carol : 2/27/2007<br>carol : 4/4/2005<br>wwang : 3/31/2005<br>terry : 3/31/2005<br>joanna : 7/15/2004<br>tkritzer : 6/1/2004<br>ckniffin : 5/20/2004<br>ckniffin : 5/19/2004<br>carol : 5/12/2004<br>terry : 3/18/2004<br>tkritzer : 3/1/2004<br>terry : 2/25/2004<br>alopez : 4/4/2003<br>alopez : 4/4/2003<br>alopez : 4/4/2003<br>terry : 4/2/2003<br>alopez : 11/14/2002<br>terry : 11/13/2002<br>carol : 8/12/2002<br>carol : 8/12/2002<br>ckniffin : 8/12/2002<br>mgross : 7/29/2002<br>cwells : 12/18/2001<br>cwells : 12/18/2001<br>cwells : 12/13/2001<br>cwells : 12/6/2001<br>joanna : 9/25/2001<br>cwells : 8/23/2001<br>cwells : 8/20/2001<br>mcapotos : 6/5/2001<br>terry : 6/4/2001<br>mgross : 1/5/2001<br>carol : 12/14/1999<br>mgross : 11/4/1999<br>terry : 10/25/1999<br>psherman : 8/10/1998<br>mark : 6/22/1995<br>mark : 5/8/1995<br>mark : 4/3/1995<br>carol : 11/3/1994<br>carol : 9/2/1994
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<span class="mim-font">
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<strong>*</strong> 600075
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<div>
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<h3>
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TATA BOX-BINDING PROTEIN; TBP
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<span class="mim-font">
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<em>Alternative titles; symbols</em>
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<h4>
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SCA17 GENE
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<strong><em>HGNC Approved Gene Symbol: TBP</em></strong>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 719249005;
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<strong>
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<em>
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Cytogenetic location: 6q27
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Genomic coordinates <span class="small">(GRCh38)</span> : 6:170,554,369-170,572,859 </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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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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6q27
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</td>
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<td>
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<span class="mim-font">
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{Parkinson disease, susceptibility to}
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</td>
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<td>
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<span class="mim-font">
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168600
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<td>
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<span class="mim-font">
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Autosomal dominant; Multifactorial
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</td>
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<td>
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<span class="mim-font">
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3
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</span>
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</tr>
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<tr>
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<td>
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<span class="mim-font">
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Spinocerebellar ataxia 17
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</span>
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</td>
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<td>
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<span class="mim-font">
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607136
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<span class="mim-font">
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Autosomal dominant
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</td>
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<td>
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<span class="mim-font">
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3
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</tbody>
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</table>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Description</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>The RNA polymerase II transcription factor D (TFIID; see 313650) is a multisubunit complex essential for the expression of most, if not all, protein-encoding genes. The DNA-binding subunit of TFIID is the TATA box-binding protein (TBP).</p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene Function</strong>
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</h4>
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<p>The TBP C-terminal domain of 180 amino acids is well conserved, and this domain is both necessary and sufficient for interaction with DNA and for assembly of the basal transcription apparatus (Peterson et al., 1990). Contrary to the previously hypothesized existence of a family of genes coding for DNA-binding proteins highly related to TBP, Purrello et al. (1994) showed that the segment coding for the evolutionarily conserved C-terminal DNA-binding domain is unique. When bound to the TATA box, it has a saddle-like shape, with the concave face contacting DNA and the convex interacting with the other subunits of TFIID, which are called TBP-associated factors (TAFs; see 600475), with TFIIA (600519, 600520) and TFIIB (189963), with the A form of RNA polymerase II CTD, and with positive and negative modulators of basal and activated transcription of class II genes (reviewed by Nikolov et al., 1992). The N terminus of TBP modulates the DNA-binding activity of the C terminus of the protein. It contains a long string of glutamine codons, which represents a common motif among other proteins involved in transcription, such as SP1 (189906) and some homeobox proteins (Purrello et al., 1994). </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Biochemical Features</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p><strong><em>Crystal Structure</em></strong></p><p>
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Juo et al. (2003) reported a 2.95-angstrom resolution crystal structure of the ternary complex containing BRF1 (604902) homology domain II, the conserved region of TBP, and 19 basepairs of U6 (180692) promoter DNA. The structure revealed the core interface for assembly of transcription factor IIIB and demonstrated how the loosely packed BRF1 domain achieves remarkable binding specificity with the convex and lateral surfaces of TBP. </p>
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</span>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Mapping</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Using a somatic cell hybrid panel, Polymeropoulos et al. (1991) tentatively assigned the TBP gene to chromosome 6. By multipoint linkage analysis in CEPH families, Imbert et al. (1994) mapped the TBP gene to 6q27 by linkage to DNA markers. Saito et al. (1994) demonstrated a polymorphic (CAG)n repeat in the N-terminal region of the TBP gene. They reported the localization of the gene to 6q27.05-qter by fluorescence in situ hybridization, using the cDNA clone with or without the (CAG)n repeat as a probe. Using a 3-prime C-terminal domain cDNA probe, Purrello et al. (1994) performed in situ hybridization to localize the TBP locus at 6q27. Segregation analysis with the same probe in a large series of mouse/human somatic cell hybrids confirmed that the TBP locus is a single copy and is localized at chromosome 6q21-ter. Rosen et al. (1995) used oligonucleotide primers flanking a polymorphic stretch of 38 glutamine codons in the 5-prime coding region of the TBP gene to map the TBP gene to 6qter. </p><p>Trachtulec and Forejt (2001) reported that in human, mouse, and snake, the PDCD2 (600866) and TBP genes are adjacent tail to tail. These 2 genes are linked also in Drosophila and are likewise syntenic in C. elegans and S. pombe. </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Molecular Genetics</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>TBP is an important general transcription initiation factor (Kao et al., 1990; Peterson et al., 1990; Gostout et al., 1993). It contains a long polymorphic imperfect CAG repeat corresponding to the polyglutamine region. In a large population study, alleles corresponding to a range of 25 to 42 glutamine residues were detected, with the most common alleles encoding stretches of 32 to 39 glutamines. A gln42 allele was found only once in 2,003 chromosomes (Gostout et al., 1993). </p><p>Imbert et al. (1994) raised the question of a possible role of an expanded CAG repeat region of the TBP gene in some late-onset neurologic disorders. </p><p>Several genes for transcription factors, such as TBP and POU-domain transcription factor (POU1F1; 173110), contain CAG trinucleotide repeats encoding polyglutamine structures. CAG repeat expansion is known to be the basis of at least 8 hereditary neurodegenerative disorders, including Huntington disease (143100), spinocerebellar ataxia-1 (164400), and Machado-Joseph disease (109150). Since the TBP gene contains particularly long and polymorphic CAG repeats, ranging from 25 to 42, the TBP gene was investigated intensively as a candidate for psychiatric disorders (Imbert et al., 1994; Rubinsztein et al., 1996; Jones et al., 1997), but no expansion of the CAG repeat was identified. </p><p><strong><em>Spinocerebellar Ataxia 17</em></strong></p><p>
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In a 14-year-old Japanese girl with spinocerebellar ataxia 17 (SCA17; 607136), Koide et al. (1999) identified a de novo expansion of the CAG repeat of the TBP gene (600075.0001). The mutated TBP, which had an expanded polyglutamine stretch of 63 glutamines, was expressed in lymphoblastoid cell lines at a level comparable with that of wildtype TBP. The CAG repeat of the TBP gene consisted of impure CAG repeat, and the de novo expansion involved partial duplication of the CAG repeat. The patient was noted at age 6 to have gait disturbance and intellectual deterioration. By age 9, she showed truncal ataxia, spasticity, and muscle weakness. She was confined to a wheelchair at age 13. The mutation had occurred on the chromosome inherited from her father. She was identified from a larger group of 118 patients with various forms of neurologic disease. </p><p>Zuhlke et al. (2001) confirmed the report of a polyglutamine disease due to (CAG)n repeat expansion in the TBP gene. They investigated 604 patients (469 sporadic and 135 familial cases) with ataxia and gait disturbances in whom repeat expansions of previously identified genes had been excluded and found repeat expansion in the TBP gene in 2 families of northern German origin with autosomal dominant inheritance of ataxia, dystonia, and intellectual decline. A marked intra- and interfamilial phenotypic variability was observed. Elongated polyglutamine stretches between 50 and 55 residues were demonstrated, whereas 15 different normal alleles contained 27 to a maximum of 44 triplets. </p><p>In patients with a Huntington disease-like phenotype (HDL4; 607136), Stevanin et al. (2003), Bauer et al. (2004), and Toyoshima et al. (2004) identified repeat expansions in the TBP gene. </p><p>Shatunov et al. (2004) described a 20-year-old North American patient who developed rapidly progressive cognitive decline and pronounced ataxia who had a 129M/M PRNP genotype (176640.0005) and was originally thought to have variant Creutzfeldt-Jacob disease (vCJD; see 123400). Further studies, however, showed that the patient had an expanded allele with 55 CAG/CAA repeats in the TBP gene. The patient's unaffected parents and sibs showed normal-sized TBP alleles with 37 to 38 repeats. Haplotype and nucleotide sequence analyses indicated that the mutation had occurred de novo on a chromosome inherited from the father. Shatunov et al. (2004) suggested that variant CJD should be added to the list of disorders tested for the TBP trinucleotide expansion. </p><p>Tomiuk et al. (2007) analyzed the microsatellite region of the TBP gene in 10 unrelated German SCA17 patients, 30 unaffected members of 10 SCA17 families, 15 controls, and 10 previously published SCA17 families, as well as the homologous regions in 10 primate species. They showed that the characteristic CAA-CAG-CAA interruption pattern was conserved and likely to result from selection for stabilizing the microsatellite. Comparison of the microsatellite region across primate species showed that SCA17 is likely to be a human trait, with the most common 37-repeat allele acting as a repository for expanded, pathogenic alleles. Tomiuk et al. (2007) concluded that the cassette-like structure of 5 out of 17 expanded alleles can be attributed to unequal crossing over, thus explaining the rare and sporadic de novo generation of SCA17 alleles. </p><p>Gao et al. (2008) used small pool PCR to compared somatic instability of expanded CAG repeats in 1 Mexican, 4 Japanese, and 2 German SCA17 families. CAG repeats had 2 distinct configurations: complex or group I consisting of (CAG)3 (CAA)3 (CAG)n1 CAA-CAG-CAA (CAG)n2 CAA-CAG ('n1' from 7 to 11 and 'n2' from 9 to 21) and simple or group II consisting of (CAG)3 (CAA)3 (CAG)n1 CAA-CAG ('n1' from 42 to 47). Both CAG and CAA in these repeat tracts code for glutamine. Group I mutations were prone to contraction, whereas group II mutations were prone to continuing expansion. Analysis of individual alleles showed a correlation between mutation frequency and the number of CAG/CAA repeats (0.76), but the difference between the 2 groups was no significant. However, there was a strong correlation between the configuration of the CAG/CAA repeat and instability: those with more CAA interruptions showed more stability, whereas those with less or no CAA interruptions showed more instability. These changes also correlated with intergenerational instability and anticipation in regard to age at onset. Of note, the pure CAG repeats showed both expansion and contraction, while the interrupted repeats exhibited mostly contraction at a significantly lower frequency. Gao et al. (2008) suggested that repeat configuration is a critical determinant for instability, and that CAA interruptions (i.e., CAA-CAG-CAA or domain 3) might serve as a limiting element for further expansion of CAG repeats at the SCA17 locus. </p><p><strong><em>Susceptibility to Parkinson Disease</em></strong></p><p>
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In a patient with Parkinson disease (168600) from Taiwan, Wu et al. (2004) detected an abnormal trinucleotide repeat expansion (46 repeats) in the SCA17 gene. The patient presented with typical features of idiopathic PD: late onset of disease, resting tremor in the limbs, rigidity, bradykinesia, and a good response to levodopa. The authors noted that this was the first report describing PD in association with an expanded allele in the TBP gene. </p>
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</span>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Animal Model</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>Veenstra et al. (2000) tested the role of Tbp during the onset of embryonic transcription in Xenopus by antisense oligonucleotide-mediated turnover of maternal Tbp mRNA. Embryos without detectable Tbp initiated gastrulation but died before completing gastrulation. The expression of many genes transcribed by RNA polymerase II and III was reduced; however, some genes were transcribed with an efficiency identical to that of Tbp-containing embryos. Using a similar antisense strategy, Veenstra et al. (2000) found that the TBP-like factor Tlf/Trf2 (TBPL1; 605521) was essential for development past the midblastula stage. Because TBP and a TLF factor were found to play complementary roles in embryonic development, Veenstra et al. (2000) concluded that their results indicate that although similar mechanistic roles exist in common, TBP and TLF function differentially to control transcription of specific genes. </p><p>Mammalian TBP consists of a 180-amino acid core that is common to all eukaryotes fused to a vertebrate-specific N-terminal domain. Hobbs et al. (2002) generated mice with a modified Tbp allele, designated Tbp delta-N, that produced a version of Tbp lacking 111 of the 135 vertebrate-specific amino acids. More than 90% of Tbp delta-N/delta-N fetuses died in midgestation from an apparent defect in the placenta. Tbp delta-N/delta-N fetuses could be rescued by supplying them with a wildtype tetraploid placenta. Mutants also could be rescued by rearing them in immunocompromised mothers. In immune-competent mothers, survival of Tbp delta-N/delta-N fetuses increased when fetal/placental beta-2-microglobulin (B2M; 109700) expression was genetically disrupted. These results suggested that the TBP N terminus functions in transcriptional regulation of a placental B2M-dependent process that favors maternal immunotolerance of pregnancy. </p><p>Martianov et al. (2002) inactivated the murine Tbp gene by targeted disruption. Tbp +/- mice were born in the expected mendelian frequency and were of normal size and weight, displayed no obvious abnormalities, and were fertile. Crossing TBP heterozygote mice failed to generate viable newborn homozygous mutant mice. However, at 3.5 days postcoitum (E3.5), an approximately mendelian ratio of Tbp -/- mice could be detected with PCR. When examined by immunofluorescence for expression of the Tbp protein, blastocysts were detected that were totally negative for Tbp labeling. TBP was absent in explanted blastocysts grown for 1 day in vitro. Strongly reduced Tbp levels were also detected at E2.5 in 8 cell-stage embryos, which indicates that the maternal Tbp pool was significantly depleted at this stage and was undetectable by the blastocyst stage. Blastocysts from Tbp heterozygote crosses were explanted at E3.5 and cultivated in vitro. Approximately 25% of the blastocysts rapidly ceased growth and died, whereas the others hatched from the zona pellucida and continued to develop. After 2 days, extensive apoptosis was observed in the growth-arrested Tbp homozygous mutant embryos. Embryos staining negatively for Tbp were also recovered at E4.5. These embryos typically comprised 30 to 40 cells, fewer than normally seen in wildtype E3.5 blastocysts, indicating that growth arrest occurred before E3.5, just as Tbp levels became undetectable. Martianov et al. (2002) found that after loss of Tbp, RNA polymerase II (pol II; see 180660) remained in a transcriptionally active phosphorylation state, and in situ run-off experiments showed high levels of pol II transcription compared to those of wildtype cells. In contrast, pol I and pol III transcription was arrested. Martianov et al. (2002) concluded that their results show a differential dependency of the RNA polymerases on TBP and provide evidence for TBP-independent pol II transcriptional mechanisms that allow reinitiation and maintenance of gene transcription in vivo. </p><p>Shah et al. (2009) characterized cellular and mouse models expressing polyQ-expanded TBP. The rat PC12 cellular model exhibited characteristic features of neuronal dysfunction, including decreased cell viability and defective neurite outgrowth. The high-affinity nerve growth factor receptor, Trka (NTRK1; 191315), was downregulated by mutant TBP in PC12 cells. Downregulation of Trka also occurred in the cerebellum of SCA17 transgenic mice prior to Purkinje cell degeneration. Mutant TBP bound more Sp1 (189906), reduced its occupancy of the Trka promoter and inhibited the activity of the Trka promoter. Shah et al. (2009) suggested that the transcriptional downregulation of TRKA by mutant TBP may contribute to SCA17 pathogenesis. </p>
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</span>
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<div>
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>ALLELIC VARIANTS</strong>
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</span>
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<strong>1 Selected Example):</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0001 SPINOCEREBELLAR ATAXIA 17</strong>
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</span>
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</h4>
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</div>
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<div>
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<span class="mim-text-font">
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PARKINSON DISEASE, LATE-ONSET, SUSCEPTIBILITY TO, INCLUDED
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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TBP, (CAG)n REPEAT EXPANSION
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<br />
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ClinVar: RCV000010056, RCV000010057
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</span>
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</div>
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<div>
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<span class="mim-text-font">
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<p>Koide et al. (1999) described a sporadic case of a complex neurologic disorder with cerebellar ataxia, pyramidal signs, and severe intellectual impairment (SCA17; 607136) associated with expansion of the CAG repeat of the TBP gene. The gene encoded 63 glutamines, far exceeding the range in normal individuals (25 to 42 in Caucasians; 31 to 42 in Japanese). </p><p>Zuhlke et al. (2001) described 2 German families with an autosomal dominant degenerative multisystem disorder with predominant ataxia and intellectual impairment but also involvement of the pyramidal, extrapyramidal, and possibly autonomic system (607136). Expanded (CAG)n alleles of the TBP gene ranged between 50 and 55 residues in affected individuals. In 1 family, 2 affected sisters differed by 1 trinucleotide repeat, and upon transmission from one of the sisters to her daughter the repeat was elongated by 2 units. This expansion may have contributed to the earlier age of onset in the daughter. In the other family, the (CAG)n element was combined with CAA interruptions, which had not been described for CAG expansions in other genes. </p><p>Nakamura et al. (2001) identified a form of spinocerebellar ataxia- 17 in 4 Japanese pedigrees which was caused by an abnormal (CAG)n expansion in TBP to a range of 47 to 55 repeats. Age at onset ranged from 19 to 48 years, and symptoms included ataxia, bradykinesia, and dementia. Postmortem brain tissue from 1 patient exhibited shrinkage and moderate loss of small neurons with gliosis predominantly in the caudate nucleus and putamen, with similar but moderate changes in the thalamus, frontal cortex, and temporal cortex. Moderate Purkinje cell loss and an increase of Bergmann glia were seen in the cerebellum. Immunocytochemical analysis performed with anti-ubiquitin (191339) and anti-TBP antibodies showed neuronal intranuclear inclusion bodies, and most neuronal nuclei were diffusely stained with 1C2 antibody, which recognizes expanded polyglutamine tracts. </p><p>In a total of 12 patients with a Huntington disease-like phenotype (607136), Stevanin et al. (2003), Bauer et al. (2004), and Toyoshima et al. (2004) identified expanded trinucleotide repeats, ranging from 44 to 52 repeats, in the TBP gene. Clinical features were indistinguishable from Huntington disease, including behavioral changes progressing to dementia, chorea, cerebellar gait, lower limb hyperreflexia, and pontocerebellar atrophy. </p><p>Shatunov et al. (2004) described a 20-year-old patient who developed rapidly progressive cognitive decline and pronounced ataxia, a phenotype compatible with prion disease. No mutation was found in the PRNP gene (176640), and the patient was found to have a de novo increase of the trinucleotide repeat number in the coding region of the TBP gene. </p><p>Susceptibility to Parkinson Disease</p><p>In a patient with Parkinson disease (168600) from Taiwan, Wu et al. (2004) detected an abnormal trinucleotide repeat expansion (46 repeats) in the SCA17 gene. The patient presented with typical features of idiopathic PD: late onset of disease, resting tremor in the limbs, rigidity, bradykinesia, and a good response to levodopa. The authors noted that this was the first report describing PD in association with an expanded allele in the TBP gene. </p>
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<div>
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<h4>
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<span class="mim-font">
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<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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<ol>
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<li>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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George E. Tiller - updated : 9/30/2010<br>Cassandra L. Kniffin - updated : 2/5/2010<br>Marla J. F. O'Neill - updated : 2/1/2008<br>Victor A. McKusick - updated : 3/31/2005<br>Cassandra L. Kniffin - updated : 5/19/2004<br>Victor A. McKusick - updated : 2/25/2004<br>Ada Hamosh - updated : 4/2/2003<br>Ada Hamosh - updated : 11/13/2002<br>Cassandra L. Kniffin - reorganized : 8/12/2002<br>Stylianos E. Antonarakis - updated : 7/29/2002<br>George E. Tiller - updated : 12/6/2001<br>Michael B. Petersen - updated : 8/23/2001<br>Victor A. McKusick - updated : 6/4/2001<br>Ada Hamosh - updated : 1/5/2001<br>Victor A. McKusick - updated : 10/25/1999
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Victor A. McKusick : 8/5/1994
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alopez : 10/31/2019<br>terry : 12/21/2012<br>ckniffin : 11/16/2010<br>wwang : 10/15/2010<br>terry : 9/30/2010<br>wwang : 2/5/2010<br>wwang : 2/5/2010<br>wwang : 12/16/2008<br>wwang : 2/4/2008<br>terry : 2/1/2008<br>carol : 2/27/2007<br>carol : 4/4/2005<br>wwang : 3/31/2005<br>terry : 3/31/2005<br>joanna : 7/15/2004<br>tkritzer : 6/1/2004<br>ckniffin : 5/20/2004<br>ckniffin : 5/19/2004<br>carol : 5/12/2004<br>terry : 3/18/2004<br>tkritzer : 3/1/2004<br>terry : 2/25/2004<br>alopez : 4/4/2003<br>alopez : 4/4/2003<br>alopez : 4/4/2003<br>terry : 4/2/2003<br>alopez : 11/14/2002<br>terry : 11/13/2002<br>carol : 8/12/2002<br>carol : 8/12/2002<br>ckniffin : 8/12/2002<br>mgross : 7/29/2002<br>cwells : 12/18/2001<br>cwells : 12/18/2001<br>cwells : 12/13/2001<br>cwells : 12/6/2001<br>joanna : 9/25/2001<br>cwells : 8/23/2001<br>cwells : 8/20/2001<br>mcapotos : 6/5/2001<br>terry : 6/4/2001<br>mgross : 1/5/2001<br>carol : 12/14/1999<br>mgross : 11/4/1999<br>terry : 10/25/1999<br>psherman : 8/10/1998<br>mark : 6/22/1995<br>mark : 5/8/1995<br>mark : 4/3/1995<br>carol : 11/3/1994<br>carol : 9/2/1994
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