4699 lines
395 KiB
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- *313650 - TAF1 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 250-KD; TAF1
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<p>
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<span class="h4">*313650</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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<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="#cloning">Cloning and Expression</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#geneStructure">Gene Structure</a>
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<a href="#mapping">Mapping</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="#molecularGenetics">Molecular Genetics</a>
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<li role="presentation" style="margin-left: 1em">
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<a href="#history">History</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/313650">Table View</a>
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</li>
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<li role="presentation">
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<a href="#seeAlso"><strong>See Also</strong></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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</ul>
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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=ENSG00000147133;t=ENST00000423759" 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=6872" 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=313650" class="mim-tip-hint" title="UCSC Genome Browser; reference sequences and working draft assemblies for a large collection of genomes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'UCSC Genome Browser', 'domain': 'genome.ucsc.edu'})">UCSC Genome Browser</a></div>
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</div>
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</div>
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</div>
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<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
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<div class="panel-heading mim-panel-heading" role="tab" id="mimDna">
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<span class="panel-title">
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<span class="small">
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<a href="#mimDnaLinksFold" id="mimDnaLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
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<span id="mimDnaLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5">►</span> DNA
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</a>
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</span>
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</span>
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</div>
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<div id="mimDnaLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
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<div class="panel-body small mim-panel-body">
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<div><a href="https://www.ensembl.org/Homo_sapiens/Transcript/Sequence_cDNA?db=core;g=ENSG00000147133;t=ENST00000423759" 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_001286074,NM_004606,NM_138923,NR_104387,NR_104388,NR_104389,NR_104390,NR_104391,NR_104392,NR_104393,NR_104394,NR_104395,NR_104396,XM_005262300,XM_024452430,XM_047442391,XM_047442392,XM_047442393,XM_047442394,XM_047442395,XM_047442396,XM_047442397,XM_047442398,XM_047442399,XM_047442400,XM_047442401,XM_047442402,XM_047442403,XM_047442404,XM_047442405,XM_047442406" 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_004606" 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=313650" 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=02436&isoform_id=02436_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/TAF1" 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/29733,219528,34481727,34481731,34481755,47777655,62088212,119625696,119625697,119625698,119625699,119625700,146455129,146455131,146455133,146455135,146760137,146760139,147223289,148353329,171451946,409101972,1750897554,1750897556,1750897558,2217393908,2217393910,2217393912,2217393914,2217393916,2217393918,2217393920,2217393922,2217393924,2217393926,2217393928,2217393930,2217393932,2217393934,2217393936,2217393938,2217393940,2217393942,2462630627,2462630629,2462630631,2462630633,2462630635,2462630637,2462630639,2462630641,2462630643,2462630645,2462630647,2462630649,2462630651,2462630653,2462630655,2462630657,2462630659,2462630661,2619680065" 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/P21675" 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=6872" 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=ENSG00000147133;t=ENST00000423759" 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=TAF1" 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=TAF1" 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+6872" 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/TAF1" 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:6872" 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/6872" 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=chrX&hgg_gene=ENST00000423759.6&hgg_start=71366357&hgg_end=71530525&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/taf1" 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=313650[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=313650[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/TAF1/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/ENSG00000147133" class="mim-tip-hint" title="The Genome Aggregation Database (gnomAD), Broad Institute." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'gnomAD', 'domain': 'gnomad.broadinstitute.org'})">gnomAD</a></div>
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<div><a href="https://www.ebi.ac.uk/gwas/search?query=TAF1" class="mim-tip-hint" title="GWAS Catalog; NHGRI-EBI Catalog of published genome-wide association studies." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GWAS Catalog', 'domain': 'gwascatalog.org'})">GWAS Catalog </a></div>
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<div><a href="https://www.gwascentral.org/search?q=TAF1" 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=TAF1" 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="http://www.LOVD.nl/TAF1" class="mim-tip-hint" title="A gene-specific database of variation." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Locus Specific DB', 'domain': 'locus-specific-db.org'})">Locus Specific DBs</a></div>
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<div><a href="https://evs.gs.washington.edu/EVS/PopStatsServlet?searchBy=Gene+Hugo&target=TAF1&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/PA36310" 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:11535" 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/FBgn0010355.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:1336878" 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/TAF1#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:1336878" 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/6872/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=6872" 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=WBGene00006382;class=Gene" class="mim-tip-hint" title="Database of the biology and genome of Caenorhabditis elegans and related nematodes." target="_blank" onclick="gtag('event', 'mim_outbound', {'name'{'name': 'Wormbase Gene', 'domain': 'wormbase.org'})">Wormbase Gene</a></div>
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<div><a href="https://zfin.org/ZDB-GENE-030131-5576" 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">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellularPathways">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellularPathwaysLinksFold" id="mimCellularPathwaysLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<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:6872" 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=TAF1&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>
|
|
<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> 1237420004, 698279003<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">
|
|
<span class="text-danger"><strong>*</strong></span>
|
|
313650
|
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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>
|
|
<span class="mim-font">
|
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TAF1 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 250-KD; TAF1
|
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|
</span>
|
|
</h3>
|
|
</div>
|
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<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
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<div>
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<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 1<br />
|
|
TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2A; TAF2A<br />
|
|
TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 250-KD; TAFII250<br />
|
|
CELL CYCLE, G1 PHASE DEFECT; CCG1<br />
|
|
CELL CYCLE GENE 1<br />
|
|
CELL CYCLE BLOCK, G1-TO-S; CCGS<br />
|
|
BA2R
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
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<div>
|
|
<a id="includedTitles" class="mim-anchor"></a>
|
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<div>
|
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<p>
|
|
<span class="mim-font">
|
|
Other entities represented in this entry:
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<span class="h3 mim-font">
|
|
TRANSCRIPTION FACTOR IID, INCLUDED; TFIID, INCLUDED; TF2D, INCLUDED
|
|
</span>
|
|
</div>
|
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|
|
<div>
|
|
<span class="h4 mim-font">
|
|
|
|
TATA-BINDING PROTEIN-CONTAINING COMPLEX, INCLUDED
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
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|
|
<div>
|
|
<a id="approvedGeneSymbols" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong><em>HGNC Approved Gene Symbol: <a href="https://www.genenames.org/tools/search/#!/genes?query=TAF1" class="mim-tip-hint" title="HUGO Gene Nomenclature Committee." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'HGNC', 'domain': 'genenames.org'})">TAF1</a></em></strong>
|
|
</span>
|
|
</p>
|
|
</div>
|
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<div>
|
|
<a id="cytogeneticLocation" class="mim-anchor"></a>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
<strong>
|
|
<em>
|
|
Cytogenetic location: <a href="/geneMap/X/410?start=-3&limit=10&highlight=410">Xq13.1</a>
|
|
|
|
Genomic coordinates <span class="small">(GRCh38)</span> : <a href="https://genome.ucsc.edu/cgi-bin/hgTracks?db=hg38&position=chrX:71366357-71530525&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'})">X:71,366,357-71,530,525</a> </span>
|
|
</em>
|
|
</strong>
|
|
<a href="https://www.ncbi.nlm.nih.gov/" target="_blank" class="small"> (from NCBI) </a>
|
|
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
<div>
|
|
<a id="geneMap" class="mim-anchor"></a>
|
|
<div style="margin-bottom: 10px;">
|
|
<span class="h4 mim-font">
|
|
<strong>Gene-Phenotype Relationships</strong>
|
|
</span>
|
|
</div>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
|
|
<span class="hidden-sm hidden-xs pull-right">
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Dystonia-Parkinsonism, X-linked
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Intellectual developmental disorder, X-linked syndromic 33
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<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
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<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
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<p>Transcription factor IID (TFIID) is a DNA-binding protein complex required for RNA polymerase II (see POLR2A; <a href="/entry/180660">180660</a>)-mediated transcription of many, if not all, protein-encoding genes in eukaryotic cells. Other general transcription factors are TFIIA (<a href="/entry/600519">600519</a>, <a href="/entry/600520">600520</a>), TFIIB (<a href="/entry/189963">189963</a>), TFIIE (<a href="/entry/189962">189962</a>, <a href="/entry/189964">189964</a>), TFIIF (<a href="/entry/189968">189968</a>), TFIIG/J, and TFIIH (<a href="/entry/189972">189972</a>). TFIID plays a key role in initiation, since it binds to the TATA element to form a complex that nucleates the assembly of the other components into a preinitiation complex and that may be stable through multiple rounds of transcription. TAF1, or TAFII250, is the largest subunit of TFIID. Other protein subunits of TFIID include TATA box-binding protein (TBP; <a href="/entry/600075">600075</a>) and numerous other TBP-associated factors (TAFs; see <a href="/entry/600475">600475</a>). TFIID is thought to interact with TFIIA, which may stabilize its binding, and with TFIIB, which is the next factor to enter the complex.</p>
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<p>By somatic cell hybridization, <a href="#12" class="mim-tip-reference" title="Jha, K. K., Ozer, H. L. <strong>Genetic studies with a mutant mouse cell, ts-2 Balb-3T3, with a temperature-sensitive defect in DNA synthesis. (Abstract)</strong> Genetics 86: s32-s33, 1977."None>Jha and Ozer (1977)</a> found synteny of human HGPRT (<a href="/entry/308000">308000</a>) on the X chromosome and a human gene correcting for a temperature-sensitive defect in DNA synthesis in a particular mouse cell line. <a href="#13" class="mim-tip-reference" title="Jha, K. K., Siniscalco, M., Ozer, H. L. <strong>Temperature-sensitive mutants of Balb-3T3 cells. III. Hybrids between ts2 and other mouse mutant cells affected in DNA synthesis and correction of ts2 defect by human X chromosome.</strong> Somat. Cell Genet. 6: 603-614, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6933701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6933701</a>] [<a href="https://doi.org/10.1007/BF01538640" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6933701">Jha et al. (1980)</a> assigned the gene, which they called BA2R, to Xq13-q27. Schwartz et al. (<a href="#29" class="mim-tip-reference" title="Schwartz, H. E., Holmes, S., Meiss, H. K. <strong>Assignment of temperature-sensitive mutations of BHK cells to the X-chromosome. (Abstract)</strong> J. Cell Biol. 75: 393A, 1977."None>1977</a>, <a href="#30" class="mim-tip-reference" title="Schwartz, H. E., Moser, G. C., Holmes, S., Meiss, H. K. <strong>Assignment of temperature-sensitive mutations of BHK cells to the X-chromosome.</strong> Somat. Cell Genet. 5: 217-224, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/573507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">573507</a>] [<a href="https://doi.org/10.1007/BF01539162" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="573507">1979</a>) found that a temperature-sensitive mutation in hamster cells (BHK21) was also X-linked and could be complemented by the human X chromosome. <a href="#33" class="mim-tip-reference" title="Sekiguchi, T., Yoshida, M. C., Sekiguchi, M., Nishimoto, T. <strong>Isolation of a human X chromosome-linked gene essential for progression from G1 to S phase of the cell cycle.</strong> Exp. Cell Res. 169: 395-407, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3556424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3556424</a>] [<a href="https://doi.org/10.1016/0014-4827(87)90200-x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3556424">Sekiguchi et al. (1987)</a> studied a temperature-sensitive mutant isolated from the hamster cell line BHK21/13, which cannot progress into S phase at 39.5 degrees C, following release from isoleucine deprivation. (The original description of this mutant cell line was given by <a href="#21" class="mim-tip-reference" title="Nishimoto, T., Sekiguchi, T., Kai, R., Yamashita, K., Takahashi, T., Sekiguchi, M. <strong>Large-scale selection and analysis of temperature-sensitive mutants for cell reproduction from BHK cells.</strong> Somat. Cell Genet. 8: 811-812, 1982.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6891837/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6891837</a>] [<a href="https://doi.org/10.1007/BF01543021" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="6891837">Nishimoto et al. (1982)</a>.) The mutant cells were transfected with high molecular weight DNA from human cells, and several human DNA bands were found to be conserved through 3 cycles of transformation to temperature resistance. A 70-kb human DNA band was mapped to the region Xpter-q21 by study of human-mouse hybrid cells. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=6891837+6933701+573507+3556424" 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="#31" class="mim-tip-reference" title="Sekiguchi, T., Miyata, T., Nishimoto, T. <strong>Molecular cloning of the cDNA of human X chromosomal gene (CCG1) which complements the temperature-sensitive G(1) mutants, tsBN462 and ts13, of the BHK cell line.</strong> EMBO J. 7: 1683-1687, 1988.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3169001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3169001</a>] [<a href="https://doi.org/10.1002/j.1460-2075.1988.tb02996.x" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3169001">Sekiguchi et al. (1988)</a> cloned the X-linked gene that corrects the defect in the temperature-sensitive hamster cell line. They isolated the gene, which they called CCG1, from a secondary ts(+) transformant using DNA-mediated gene transfer of total human DNA and a cosmid vector. The isolated cDNA complemented a temperature-sensitive mutation with a clear defect in the G1 phase, the most important phase for the control of cell proliferation. The cloned genomic cDNA was 5.3 kb long and had an open reading frame of 4,662 bp, encoding a protein of almost 180 kD. <a href="#32" class="mim-tip-reference" title="Sekiguchi, T., Nohiro, Y., Nakamura, Y., Hisamoto, N., Nishimoto, T. <strong>The human CCG1 gene, essential for progression of the G1 phase, encodes a 210-kilodalton nuclear DNA-binding protein.</strong> Molec. Cell. Biol. 11: 3317-3325, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2038334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2038334</a>] [<a href="https://doi.org/10.1128/mcb.11.6.3317-3325.1991" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2038334">Sekiguchi et al. (1991)</a> showed that the previously cloned cDNA for the CCG1 gene was a truncated form; authentic CCG1 cDNA is 6.0 kb and encodes a protein with a molecular mass of 210 kD. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3169001+2038334" 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="#28" class="mim-tip-reference" title="Ruppert, S., Wang, E. H., Tjian, R. <strong>Cloning and expression of human TAF(II)250: a TBP-associated factor implicated in cell-cycle regulation.</strong> Nature 362: 175-179, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7680771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7680771</a>] [<a href="https://doi.org/10.1038/362175a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7680771">Ruppert et al. (1993)</a> described the cloning, expression, and properties of the 250-kD subunit of transcription factor IID, TAFII250, which was found to be identical to CCG1 (see also <a href="#10" class="mim-tip-reference" title="Hisatake, K., Hasegawa, S., Takada, R., Nakatani, Y., Horikoshi, M., Roeder, R. G. <strong>The p250 subunit of native TATA box-binding factor TFIID is the cell-cycle regulatory protein CCG1.</strong> Nature 362: 179-181, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8450888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8450888</a>] [<a href="https://doi.org/10.1038/362179a0" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8450888">Hisatake et al. (1993)</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8450888+7680771" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>By screening human fetal brain, leukocyte, and placenta cDNA libraries using a PCR-based enrichment method, followed by RT-PCR of caudate nucleus RNA, <a href="#22" class="mim-tip-reference" title="Nolte, D., Niemann, S., Muller, U. <strong>Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism.</strong> Proc. Nat. Acad. Sci. 100: 10347-10352, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12928496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12928496</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12928496[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.1831949100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12928496">Nolte et al. (2003)</a> identified 8 splice variants of TAF1 containing novel 3-prime exons, which they referred to as DYT3 transcripts. Six of the variants contain previously identified TAF1 coding exons at their 5-prime ends, whereas 2 of the variants contain only novel 3-prime exons. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12928496" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="Herzfeld, T., Nolte, D., Muller, U. <strong>Structural and functional analysis of the human TAF1/DYT3 multiple transcript system.</strong> Mammalian Genome 18: 787-795, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17952504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17952504</a>] [<a href="https://doi.org/10.1007/s00335-007-9063-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17952504">Herzfeld et al. (2007)</a> stated that the first 38 exons of the TAF1 gene encode the highly conserved 250-kD subunit of TFIID. By RT-PCR of human fetal brain and caudate nucleus, they identified several alternatively spliced transcripts that initiated with exon 26, skipped exon 38, and contained some of the 3-prime exons reported by <a href="#22" class="mim-tip-reference" title="Nolte, D., Niemann, S., Muller, U. <strong>Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism.</strong> Proc. Nat. Acad. Sci. 100: 10347-10352, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12928496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12928496</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12928496[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.1831949100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12928496">Nolte et al. (2003)</a>. These 3-prime exons encode sequences not included in the 250-kb subunit. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12928496+17952504" 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="#22" class="mim-tip-reference" title="Nolte, D., Niemann, S., Muller, U. <strong>Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism.</strong> Proc. Nat. Acad. Sci. 100: 10347-10352, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12928496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12928496</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12928496[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1073/pnas.1831949100" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="12928496">Nolte et al. (2003)</a> stated that the TAF1 gene contains at least 38 exons, and they identified 5 additional downstream exons. <a href="#9" class="mim-tip-reference" title="Herzfeld, T., Nolte, D., Muller, U. <strong>Structural and functional analysis of the human TAF1/DYT3 multiple transcript system.</strong> Mammalian Genome 18: 787-795, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17952504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17952504</a>] [<a href="https://doi.org/10.1007/s00335-007-9063-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17952504">Herzfeld et al. (2007)</a> called these 5 downstream exons d1 through d5. Their analysis suggested that these downstream exons are much younger than the first 38 highly conserved exons and were added approximately 30 million years ago. In the region upstream from exon d2, <a href="#9" class="mim-tip-reference" title="Herzfeld, T., Nolte, D., Muller, U. <strong>Structural and functional analysis of the human TAF1/DYT3 multiple transcript system.</strong> Mammalian Genome 18: 787-795, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17952504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17952504</a>] [<a href="https://doi.org/10.1007/s00335-007-9063-z" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17952504">Herzfeld et al. (2007)</a> identified a TATA-less promoter within a CpG island that contains an initiator element and binding sites for several putative transcription factors, including a functional Ikaros (see <a href="/entry/603023">603023</a>)-binding site. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=12928496+17952504" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p><a href="#1" class="mim-tip-reference" title="Brown, C. J., Sekiguchi, T., Nishimoto, T., Willard, H. F. <strong>Regional localization of CCG1 gene which complements hamster cell cycle mutation BN462 to Xq11-Xq13.</strong> Somat. Cell Molec. Genet. 15: 93-96, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2916166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2916166</a>] [<a href="https://doi.org/10.1007/BF01534674" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2916166">Brown et al. (1989)</a> assigned the human CCG1 gene, which complements the temperature-sensitive hamster cell cycle mutations BN462 and ts13, to Xq11-q13 by study of somatic cell hybrids segregating portions of various X-autosome translocations. <a href="#3" class="mim-tip-reference" title="Derry, J. M. J., Barnard, P. J. <strong>Localization of the Ccg1 gene on the mouse X chromosome. (Abstract)</strong> Cytogenet. Cell Genet. 51: 988, 1989."None>Derry and Barnard (1989)</a> showed that the mouse equivalent, Ccg1, is located on the X chromosome. They determined its position relative to 7 other X-linked gene markers. Very close linkage was found to the gene for the alpha subunit of phosphorylase kinase of muscle (PHKA1; <a href="/entry/311870">311870</a>), and the locus was found to be situated between the androgen receptor locus proximally and the phosphoroglycerate kinase locus distally. Assuming conservation of gene order, this supports the location of the human CCG1 locus on Xq, probably in the region Xq11-q13. This location is consistent with the positioning of the gene 7 Mb from pter on the megabase scale presented by <a href="#19" class="mim-tip-reference" title="Nelson, D. L., Ballabio, A., Cremers, F., Monaco, A. P., Schlessinger, D. <strong>Report of the sixth international workshop on X chromosome mapping 1995.</strong> Cytogenet. Cell Genet. 71: 308-342, 1995."None>Nelson et al. (1995)</a>. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2916166" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<p>The largest subunit of human TFIID, TAFII250, contains serine/threonine kinase domains that can autophosphorylate and transphosphorylate the large subunit of the basal factor TFIIF (<a href="#4" class="mim-tip-reference" title="Dikstein, R., Ruppert, S., Tjian, R. <strong>TAFII250 is a bipartite protein kinase that phosphorylates the base transcription factor RAP74.</strong> Cell 84: 781-790, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8625415/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8625415</a>] [<a href="https://doi.org/10.1016/s0092-8674(00)81055-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8625415">Dikstein et al., 1996</a>). <a href="#23" class="mim-tip-reference" title="O'Brien, T., Tjian, R. <strong>Functional analysis of the human TAFII250 N-terminal kinase domain.</strong> Molec. Cell 1: 905-911, 1998.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9660973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9660973</a>] [<a href="https://doi.org/10.1016/s1097-2765(00)80089-1" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="9660973">O'Brien and Tjian (1998)</a> identified the regions of the N-terminal kinase domain (amino acids 1-414) necessary for kinase activity and examined its function in vivo. Point mutations within 2 patches of amino acids in the kinase domain decrease both autophosphorylation and transphosphorylation activities. The TAFII250-bearing mutations within the N-terminal kinase domain exhibited a significantly reduced ability to rescue ts13 cells that express a temperature-sensitive TAFII250. Moreover, transcription from the cyclin A and cdc2 promoters became impaired when cotransfected with TAFII250 containing inactive forms of the N-terminal kinase domain. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=9660973+8625415" 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="Jacobson, R. H., Ladurner, A. G., King, D. S., Tjian, R. <strong>Structure and function of a human TAFII250 double bromodomain module.</strong> Science 288: 1422-1425, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10827952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10827952</a>] [<a href="https://doi.org/10.1126/science.288.5470.1422" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10827952">Jacobson et al. (2000)</a> demonstrated that the TFIID 250-kD subunit contains 2 tandem bromodomain modules that bind selectively to multiply acetylated histone H4 peptides. The 2.1-angstrom crystal structure of the double bromodomain reveals 2 side-by-side, 4-helix bundles with a highly polarized surface charge distribution. Each bundle contains an N(epsilon)-acetyllysine-binding pocket at its center, which results in a structure ideally suited for recognition of diacetylated histone H4 tails. <a href="#11" class="mim-tip-reference" title="Jacobson, R. H., Ladurner, A. G., King, D. S., Tjian, R. <strong>Structure and function of a human TAFII250 double bromodomain module.</strong> Science 288: 1422-1425, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10827952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10827952</a>] [<a href="https://doi.org/10.1126/science.288.5470.1422" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="10827952">Jacobson et al. (2000)</a> concluded that TFIID may be targeted to specific chromatin-bound promoters and may play a role in chromatin recognition. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10827952" 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>Acetylation of p53 (TP53; <a href="/entry/191170">191170</a>) in response to DNA damage enhances its ability to bind DNA and recruit transcriptional coactivators to p53-responsive promoters. <a href="#16" class="mim-tip-reference" title="Li, A. G., Piluso, L. G., Cai, X., Gadd, B. J., Ladurner, A. G., Liu, X. <strong>An acetylation switch in p53 mediates holo-TFIID recruitment.</strong> Molec. Cell 28: 408-421, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17996705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17996705</a>] [<a href="https://doi.org/10.1016/j.molcel.2007.09.006" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17996705">Li et al. (2007)</a> showed that acetylation of lys373 and lys382 on p53 led to their direct interaction with the tandem bromodomains of TAF1. p53 recruited TAF1 to a distal p53-binding site on the p21 (CDKN1A; <a href="/entry/116899">116899</a>) promoter prior to the DNA looping that brings TAF1 to the TATA box-containing core promoter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17996705" 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>Using peptide arrays, <a href="#5" class="mim-tip-reference" title="Flynn, E. M., Huang, O. W., Poy, F., Oppikofer, M., Bellon, S. F., Tang, Y., Cochran, A. G. <strong>A subset of human bromodomains recognizes butyryllysine and crotonyllysine histone peptide modifications.</strong> Structure 23: 1801-1814, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26365797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26365797</a>] [<a href="https://doi.org/10.1016/j.str.2015.08.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26365797">Flynn et al. (2015)</a> found that, in addition to acetylated lysine (Kac), TAF1 recognized butyrylated lysine (Kbu) in histone. A 'gatekeeper' tyrosine in the bromodomain of TAF1 was responsible for this expanded acyl recognition. In addition, the second bromodomain of TAF1 could recognize histone with crotonylated lysine (Kcr). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26365797" 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>Transcription Factor IID</em></strong></p><p>
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<a href="#36" class="mim-tip-reference" title="Starr, D. B., Hawley, D. K. <strong>TFIID binds in the minor groove of the TATA box.</strong> Cell 67: 1231-1240, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1760847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1760847</a>] [<a href="https://doi.org/10.1016/0092-8674(91)90299-e" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1760847">Starr and Hawley (1991)</a> and <a href="#14" class="mim-tip-reference" title="Lee, D. K., Horikoshi, M., Roeder, R. G. <strong>Interaction of TFIID in the minor groove of the TATA element.</strong> Cell 67: 1241-1250, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1760848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1760848</a>] [<a href="https://doi.org/10.1016/0092-8674(91)90300-n" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1760848">Lee et al. (1991)</a> demonstrated that, unlike most sequence-specific DNA-binding proteins, TFIID interacts primarily within the minor groove of the DNA helix. Binding of TFIID appears to be the first step in the formation of a transcription-competent complex, followed by TFIIB, RNA polymerase II, and the remaining factors. TFIID may also serve to link the control of transcription to the cell cycle. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=1760848+1760847" 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>High levels of gene transcription by RNA polymerase II depend on high rates of transcription initiation and reinitiation. Initiation requires recruitment of the complete transcription machinery to a promoter, a process facilitated by activators and chromatin remodeling factors. Reinitiation is thought to occur through a different pathway. After initiation, a subset of the transcription machinery remains at the promoter, forming a platform for assembly of a second transcription complex. <a href="#40" class="mim-tip-reference" title="Yudkovsky, N., Ranish, J. A., Hahn, S. <strong>A transcription reinitiation intermediate that is stabilized by activator.</strong> Nature 408: 225-229, 2000.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11089979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11089979</a>] [<a href="https://doi.org/10.1038/35041603" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11089979">Yudkovsky et al. (2000)</a> described the isolation of a reinitiation intermediate in yeast that includes transcription factors TFIID, TFIIA, TFIIH, TFIIE, and Mediator (see <a href="/entry/602984">602984</a>). This intermediate can act as a scaffold for formation of a functional reinitiation complex. Formation of this scaffold is dependent on ATP and TFIIH. In yeast, the scaffold is stabilized in the presence of the activator Gal4-VP16, but not Gal4-AH, suggesting a new role for some activators and Mediator in promoting high levels of transcription. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11089979" 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="Christova, R., Oelgeschlager, T. <strong>Association of human TFIID-promoter complexes with silenced mitotic chromatin in vivo.</strong> Nature Cell Biol. 4: 79-82, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11744923/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11744923</a>] [<a href="https://doi.org/10.1038/ncb733" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11744923">Christova and Oelgeschlager (2002)</a> found that TFIID can act as a 'bookmark' to identify previously active genes for rapid reactivation after cell division. Both TFIID and TFIIB remained associated with active gene promoters during condensation of chromatin and mitosis in asynchronous and mitotic human cell populations, whereas RNA polymerase II was displaced, and NC2 (see <a href="/entry/601482">601482</a>) was displaced from some, but not all, gene promoters. <a href="#2" class="mim-tip-reference" title="Christova, R., Oelgeschlager, T. <strong>Association of human TFIID-promoter complexes with silenced mitotic chromatin in vivo.</strong> Nature Cell Biol. 4: 79-82, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11744923/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11744923</a>] [<a href="https://doi.org/10.1038/ncb733" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11744923">Christova and Oelgeschlager (2002)</a> concluded that TFIID-promoter complexes can withstand condensation of chromatin into transcriptionally silent chromosomes and therefore could propagate cell type-specific gene expression patterns through cell division. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11744923" 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>Downstream core promoter elements (DPE) are regulatory sequences that add diversity to the promoter architecture of RNA polymerase II-transcribed genes. Despite a functional correlation between the presence of TFIID and DPE, <a href="#15" class="mim-tip-reference" title="Lewis, B. A., Sims, R. J., III, Lane, W. S., Reinberg, D. <strong>Functional characterization of core promoter elements: DPE-specific transcription requires the protein kinase CK2 and the PC4 coactivator.</strong> Molec. Cell 18: 471-481, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15893730/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15893730</a>] [<a href="https://doi.org/10.1016/j.molcel.2005.04.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15893730">Lewis et al. (2005)</a> found that TFIID was insufficient for DPE-specific transcription in HeLa cells. Using a functional transcription assay coupled with conventional biochemistry, they found that protein kinase CK2 (see CSNK2A1; <a href="/entry/115440">115440</a>), in conjunction with the coactivator PC4 (<a href="/entry/600503">600503</a>), established DPE-specific transcription. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15893730" 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>Trimethylation of histone H3 (see <a href="/entry/602810">602810</a>) at lys4 (H3K4me3) is a hallmark of active human promoters. Using stable isotope labeling by amino acids in cell culture (SILAC)-based proteomic screening, <a href="#37" class="mim-tip-reference" title="Vermeulen, M., Mulder, K. W., Denissov, S., Pim Pijnappel, W. W. M., van Schaik, F. M. A., Varier, R. A., Baltissen, M. P. A., Stunnenberg, H. G., Mann, M., Timmers, H. T. M. <strong>Selective anchoring of TFIID to nucleosomes by trimethylation of histone H3 lysine 4.</strong> Cell 131: 58-69, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17884155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17884155</a>] [<a href="https://doi.org/10.1016/j.cell.2007.08.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17884155">Vermeulen et al. (2007)</a> showed that TFIID bound directly to H3K4me3 via the plant homeodomain (PHD) of the TFIID subunit TAF3 (<a href="/entry/606576">606576</a>). Selective loss of H3K4me3 reduced transcription from and TFIID binding to a subset of promoters in vivo. Equilibrium binding assays and competition experiments indicated that the TAF3 PHD finger was highly selective for H3K4me3. In transient assays, TAF3 could act as a transcriptional activator in a PHD finger-dependent manner. Asymmetric dimethylation of H3 at arg2 selectively inhibited binding of TFIID to H3K4me3, whereas acetylation of H3 at lys9 and lys14 potentiated interaction of TFIID with H3K4me3. <a href="#37" class="mim-tip-reference" title="Vermeulen, M., Mulder, K. W., Denissov, S., Pim Pijnappel, W. W. M., van Schaik, F. M. A., Varier, R. A., Baltissen, M. P. A., Stunnenberg, H. G., Mann, M., Timmers, H. T. M. <strong>Selective anchoring of TFIID to nucleosomes by trimethylation of histone H3 lysine 4.</strong> Cell 131: 58-69, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17884155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17884155</a>] [<a href="https://doi.org/10.1016/j.cell.2007.08.016" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17884155">Vermeulen et al. (2007)</a> concluded that there is crosstalk between histone modifications and TFIID. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17884155" 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="Pijnappel, W. W. M. P., Esch, D., Baltissen, M. P. A., Wu, G., Mischerikow, N., Bergsma, A. J., van der Wal, E., Han, D. W., vom Bruch, H., Moritz, S., Lijnzaad, P., Altelaar, A. F. M., Sameith, K., Zaehres, H., Heck, A. J. R., Holstege, F. C. P., Scholer, H. R., Timmers, H. T. M. <strong>A central role for TFIID in the pluripotent transcription circuitry.</strong> Nature 495: 516-519, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23503660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23503660</a>] [<a href="https://doi.org/10.1038/nature11970" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23503660">Pijnappel et al. (2013)</a> showed that knockdown of the TFIID complex affects the pluripotent circuitry in mouse embryonic stem (ES) cells and inhibits reprogramming of fibroblasts. TFIID subunits and OSKM factors Oct4 (<a href="/entry/164177">164177</a>), Sox2 (<a href="/entry/184429">184429</a>), Klf4 (<a href="/entry/602253">602253</a>), and Myc (<a href="/entry/190080">190080</a>) form a feed-forward loop to induce and maintain a stable transcription state. Notably, transient expression of TFIID subunits greatly enhanced reprogramming. <a href="#27" class="mim-tip-reference" title="Pijnappel, W. W. M. P., Esch, D., Baltissen, M. P. A., Wu, G., Mischerikow, N., Bergsma, A. J., van der Wal, E., Han, D. W., vom Bruch, H., Moritz, S., Lijnzaad, P., Altelaar, A. F. M., Sameith, K., Zaehres, H., Heck, A. J. R., Holstege, F. C. P., Scholer, H. R., Timmers, H. T. M. <strong>A central role for TFIID in the pluripotent transcription circuitry.</strong> Nature 495: 516-519, 2013.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23503660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23503660</a>] [<a href="https://doi.org/10.1038/nature11970" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="23503660">Pijnappel et al. (2013)</a> concluded that TFIID is critical for transcription factor-mediated reprogramming. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23503660" 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="#25" class="mim-tip-reference" title="Papai, G., Tripathi, M. K., Ruhlmann, C., Layer, J. H., Weil, P. A., Schultz, P. <strong>TFIIA and the transactivator Rap1 cooperate to commit TFIID for transcription initiation.</strong> Nature 465: 956-960, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20559389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20559389</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20559389[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature09080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20559389">Papai et al. (2010)</a> used cryoelectron microscopy to determine the architecture of nucleoprotein complexes composed of TFIID, TFIIA (see <a href="/entry/600519">600519</a>), the transcriptional activator RAP1 (<a href="/entry/605061">605061</a>), and yeast enhancer-promoter DNA. These structures revealed the mode of binding of RAP1 and TFIIA to TFIID, as well as a reorganization of TFIIA induced by its interaction with RAP1. <a href="#25" class="mim-tip-reference" title="Papai, G., Tripathi, M. K., Ruhlmann, C., Layer, J. H., Weil, P. A., Schultz, P. <strong>TFIIA and the transactivator Rap1 cooperate to commit TFIID for transcription initiation.</strong> Nature 465: 956-960, 2010.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20559389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20559389</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20559389[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1038/nature09080" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="20559389">Papai et al. (2010)</a> proposed that this change in position increases the exposure of TATA box-binding protein within TFIID, consequently enhancing its ability to interact with the promoter. A large RAP1-dependent DNA loop forms between the activator-binding site and the proximal promoter region. This loop is topologically locked by a TFIIA-RAP1 protein bridge that folds over the DNA. These results highlighted the role of TFIIA in transcriptional activation, defined the molecular mechanism for enhancer-promoter communication, and provided structural insights into the pathways of intramolecular communication that convey transcription activation signals through the TFIID complex. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=20559389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#26" class="mim-tip-reference" title="Patel, A. B., Louder, R. K., Greber, B. J., Grunberg, S., Luo, J., Fang, J., Liu, Y., Ranish, J., Hahn, S., Nogales, E. <strong>Structure of human TFIID and mechanism of TBP loading onto promoter DNA.</strong> Science 362: eaau8872, 2018. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30442764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30442764</a>] [<a href="https://doi.org/10.1126/science.aau8872" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30442764">Patel et al. (2018)</a> used cryoelectron microscopy, chemical crosslinking mass spectrometry, and biochemical reconstitution to determine the complete molecular architecture of TFIID and defined the conformational landscape of TFIID in the process of loading TATA box-binding protein (TBP; <a href="/entry/600075">600075</a>) onto promoter DNA. The structural analysis revealed 5 structural states of TFIID in the presence of TFIIA and promoter DNA, showing that the initial binding of TFIID to the downstream promoter positions the upstream DNA and facilitates scanning of TBP for a TATA box and the subsequent engagement of the promoter. <a href="#26" class="mim-tip-reference" title="Patel, A. B., Louder, R. K., Greber, B. J., Grunberg, S., Luo, J., Fang, J., Liu, Y., Ranish, J., Hahn, S., Nogales, E. <strong>Structure of human TFIID and mechanism of TBP loading onto promoter DNA.</strong> Science 362: eaau8872, 2018. Note: Electronic Article.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30442764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30442764</a>] [<a href="https://doi.org/10.1126/science.aau8872" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="30442764">Patel et al. (2018)</a> concluded that their findings provided a mechanistic model for the specific loading of TBP by TFIID onto the promoter. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30442764" 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>Crystal Structure</em></strong></p><p>
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<a href="#5" class="mim-tip-reference" title="Flynn, E. M., Huang, O. W., Poy, F., Oppikofer, M., Bellon, S. F., Tang, Y., Cochran, A. G. <strong>A subset of human bromodomains recognizes butyryllysine and crotonyllysine histone peptide modifications.</strong> Structure 23: 1801-1814, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26365797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26365797</a>] [<a href="https://doi.org/10.1016/j.str.2015.08.004" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26365797">Flynn et al. (2015)</a> found that the crystal structure of TAF1 complexed with Kbu adopted a conformation similar to that of BRD9 (<a href="/entry/618465">618465</a>) complexed with Kbu. However, the structure of the TAF1-Kcr complex revealed that the crotonyl group displaced 2 conserved structural water molecules from their usual positions and produced a significantly altered network of 5 rather than 6 water molecules. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26365797" 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><strong><em>X-linked Dystonia-Parkinsonism</em></strong></p><p>
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X-linked dystonia-parkinsonism (XDP; <a href="/entry/314250">314250</a>) is characterized by severe progressive torsion dystonia followed by parkinsonism. Its prevalence is particularly high (5.24 in 100,000) on Panay Island, Philippines. <a href="#18" class="mim-tip-reference" title="Makino, S., Kaji, R., Ando, S., Tomizawa, M., Yasuno, K., Goto, S., Matsumoto, S., Tabuena, M. D., Maranon, E., Dantes, M., Lee, L. V., Ogasawara, K., Tooyama, I., Akatsu, H., Nishimura, M., Tamiya, G. <strong>Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism.</strong> Am. J. Hum. Genet. 80: 393-406, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17273961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17273961</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17273961[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/10.1086/512129" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17273961">Makino et al. (2007)</a> performed genomic sequencing of the complete XDP locus, designated DYT3, on Xq13.1 in a search for disease-specific mutations. The study included 67 Filipino individuals (20 affected males) from 16 families residing in Panay. The authors found a disease-specific SVA (short interspersed nuclear element, variable number of tandem repeats, and Alu composite) retrotransposon insertion in an intron of the TAF1, which encodes the largest component of the transcription factor IID (TFIID) complex. Studies of XDP postmortem brain showed significantly decreased expression levels of TAF1 and of the dopamine receptor D2 gene (DRD2; <a href="/entry/126450">126450</a>) in the caudate nucleus. <a href="#18" class="mim-tip-reference" title="Makino, S., Kaji, R., Ando, S., Tomizawa, M., Yasuno, K., Goto, S., Matsumoto, S., Tabuena, M. D., Maranon, E., Dantes, M., Lee, L. V., Ogasawara, K., Tooyama, I., Akatsu, H., Nishimura, M., Tamiya, G. <strong>Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism.</strong> Am. J. Hum. Genet. 80: 393-406, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17273961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17273961</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17273961[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/10.1086/512129" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17273961">Makino et al. (2007)</a> also identified an abnormal pattern of DNA methylation in the retrotransposon in the genome from the patient's caudate, which could account for decreased expression of TAF1. The findings were interpreted as indicating that reduced neuron-specific expression of the TAF1 gene is associated with XDP. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17273961" 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>SVA retrotransposon insertions are thought to be active in the human genome and to alter the expression level of adjacent genes that cause diseases. The SVA retrotransposon has a high GC content (approximately 70%) and a large number of CpG sites (more than 150) in its nucleotide sequence, so that it is frequently hypermethylated in its insertion site. <a href="#18" class="mim-tip-reference" title="Makino, S., Kaji, R., Ando, S., Tomizawa, M., Yasuno, K., Goto, S., Matsumoto, S., Tabuena, M. D., Maranon, E., Dantes, M., Lee, L. V., Ogasawara, K., Tooyama, I., Akatsu, H., Nishimura, M., Tamiya, G. <strong>Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism.</strong> Am. J. Hum. Genet. 80: 393-406, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17273961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17273961</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17273961[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/10.1086/512129" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17273961">Makino et al. (2007)</a> suggested that, in XDP, the decreased expression of the neuron-specific TA14-391 isoform, and probably other TAF1 isoforms, results in transcriptional dysregulation of many neuronal genes, including that which encodes dopamine receptor DR (DRD2; <a href="/entry/126450">126450</a>). They suggested that the findings in XDP support the concept of 'transcription syndromes' involving TFIID (<a href="#38" class="mim-tip-reference" title="Vermeulen, W., van Vuuren, A. J., Chipoulet, M., Schaeffer, L., Appeldoorn, E., Weeda, G., Jaspers, N. G. J., Priestley, A., Arlett, C. F., Lehmann, A. R., Stefanini, M., Mezzina, M., Sarasin, A., Bootsma, D., Egly, J.-M., Hoeijmakers, J. H. J. <strong>Three unusual repair deficiencies associated with transcription factor BTF2(TFIIH): evidence for the existence of a transcription syndrome.</strong> Cold Spring Harbor Symp. Quant. Biol. 59: 317-329, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7587084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7587084</a>] [<a href="https://doi.org/10.1101/sqb.1994.059.01.036" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7587084">Vermeulen et al., 1994</a>), which include congenital cataracts, facial dysmorphism, and neuropathy syndrome (CCFDN; <a href="/entry/604168">604168</a>), caused by partial deficiency of RNA polymerase II (CTDP1; <a href="/entry/604927">604927</a>); dentatorubral-pallidoluysian atrophy (DRPLA; <a href="/entry/125370">125370</a>), caused by interference in the signals to TFIID; and spinocerebellar ataxia-17 (SCA17; <a href="/entry/607136">607136</a>), caused by an expanded polyglutamine in the TATA-binding protein (TBP; <a href="/entry/600075">600075</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=7587084+17273961" 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>X-linked Syndromic Intellectual Developmental Disorder 33</em></strong></p><p>
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In 12 boys from 9 unrelated families with X-linked syndromic intellectual developmental disorder-33 (MRXS33; <a href="/entry/300966">300966</a>), <a href="#24" class="mim-tip-reference" title="O'Rawe, J. A., Wu, Y., Dorfel, M. J., Rope, A. F., Au, P. Y. B., Parboosingh, J. S., Moon, S., Kousi, M., Kosma, K., Smith, C. S., Tzetis, M., Schuette, J. L., and 36 others. <strong>TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestations.</strong> Am. J. Hum. Genet. 97: 922-932, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26637982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26637982</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26637982[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.11.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26637982">O'Rawe et al. (2015)</a> identified 9 different hemizygous mutations in the TAF1 gene (see, e.g., <a href="#0002">313650.0002</a>-<a href="#0006">313650.0006</a>). Most of the mutations occurred de novo, although 3 were inherited from an unaffected mother, 1 of whom showed skewed X-inactivation. Functional studies were not performed, but many of the variants affected highly conserved residues in domains critical for interaction with TAF7 (<a href="/entry/600573">600573</a>), and were predicted to disrupt this interaction. Gene expression studies in 1 family with a missense mutation (I1337T; <a href="#0002">313650.0002</a>) suggested that the phenotype is associated with downregulation of a set of genes regulated by E-box proteins. The mutations were found by several strategies, including whole-genome sequencing, exome sequencing, targeted gene-panel sequencing, and microarray-based strategies, and all were confirmed by Sanger sequencing. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26637982" 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="#17" class="mim-tip-reference" title="Maile, T., Kwoczynski, S., Katzenberger, R. J., Wassarman, D. A., Sauer, F. <strong>TAF1 activates transcription by phosphorylation of serine 33 in histone H2B.</strong> Science 304: 1010-1014, 2004. Note: Retraction: Science 344: 981 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15143281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15143281</a>] [<a href="https://doi.org/10.1126/science.1095001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15143281">Maile et al. (2004)</a> reported that serine-33 of histone H2B (see <a href="/entry/609904">609904</a>) (H2B-S33) is a physiologic substrate for the TAF1 C-terminal kinase domain (CTK) and that H2B-S33 phosphorylation is essential for transcriptional activation events that promote cell cycle progression and development. Because of image manipulation that rendered the data, results, and conclusions not reliable, the journal Science retracted the paper of <a href="#17" class="mim-tip-reference" title="Maile, T., Kwoczynski, S., Katzenberger, R. J., Wassarman, D. A., Sauer, F. <strong>TAF1 activates transcription by phosphorylation of serine 33 in histone H2B.</strong> Science 304: 1010-1014, 2004. Note: Retraction: Science 344: 981 only, 2014.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15143281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15143281</a>] [<a href="https://doi.org/10.1126/science.1095001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15143281">Maile et al. (2004)</a> at the request of the University of California, Riverside and Dr. Frank Sauer. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15143281" 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="#24" class="mim-tip-reference" title="O'Rawe, J. A., Wu, Y., Dorfel, M. J., Rope, A. F., Au, P. Y. B., Parboosingh, J. S., Moon, S., Kousi, M., Kosma, K., Smith, C. S., Tzetis, M., Schuette, J. L., and 36 others. <strong>TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestations.</strong> Am. J. Hum. Genet. 97: 922-932, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26637982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26637982</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26637982[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.11.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26637982">O'Rawe et al. (2015)</a> found that knockdown of the taf1 gene in zebrafish resulted in a 10% reduction in the relative area of the optic tectum, suggesting a neuronal defect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26637982" 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="https://www.ncbi.nlm.nih.gov/clinvar?term=313650[MIM]" class="btn btn-default mim-tip-hint" role="button" 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>
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<p><a href="#18" class="mim-tip-reference" title="Makino, S., Kaji, R., Ando, S., Tomizawa, M., Yasuno, K., Goto, S., Matsumoto, S., Tabuena, M. D., Maranon, E., Dantes, M., Lee, L. V., Ogasawara, K., Tooyama, I., Akatsu, H., Nishimura, M., Tamiya, G. <strong>Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism.</strong> Am. J. Hum. Genet. 80: 393-406, 2007.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17273961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17273961</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17273961[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/10.1086/512129" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="17273961">Makino et al. (2007)</a> demonstrated that the X-linked dystonia-parkinsonism that is very frequent in Filippinos living on Panay Island (DYT3; <a href="/entry/314250">314250</a>) is caused by an SVA retrotransposon insertion in intron 32 of the TAF1 gene. The insertion is 2,627 bp in length. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17273961" 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>.0002 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs864321627 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs864321627;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs864321627" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs864321627" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000203524" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000203524" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000203524</a>
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<p>In 2 teenaged brothers of European descent with X-linked syndromic intellectual developmental disorder-33 (MRXS33; <a href="/entry/300966">300966</a>) <a href="#24" class="mim-tip-reference" title="O'Rawe, J. A., Wu, Y., Dorfel, M. J., Rope, A. F., Au, P. Y. B., Parboosingh, J. S., Moon, S., Kousi, M., Kosma, K., Smith, C. S., Tzetis, M., Schuette, J. L., and 36 others. <strong>TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestations.</strong> Am. J. Hum. Genet. 97: 922-932, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26637982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26637982</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26637982[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.11.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26637982">O'Rawe et al. (2015)</a> identified a hemizygous c.4010T-C transition (chrX.70,621,541T-C, GRCh37) in the TAF1 gene, resulting in an ile1337-to-thr (I1337T) substitution at a highly conserved residue. The mutation was inherited from the unaffected mother who showed highly skewed X-inactivation. The mutation was not found in the dbSNP (build 137), 1000 Genomes Project, Exome Variant Server, or ExAC databases. Functional studies of the variant were not performed, but gene expression analysis of blood showed differential expression of over 200 genes between the affected boys and noncarrier family members, with an association with downregulation of a set of genes regulated by E-box proteins. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26637982" 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>.0003 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs864321628 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs864321628;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs864321628" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs864321628" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000203551" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000203551" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000203551</a>
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<p>In a 5-year-old boy of European descent with X-linked syndromic intellectual developmental disorder-33 (MRXS33; <a href="/entry/300966">300966</a>), <a href="#24" class="mim-tip-reference" title="O'Rawe, J. A., Wu, Y., Dorfel, M. J., Rope, A. F., Au, P. Y. B., Parboosingh, J. S., Moon, S., Kousi, M., Kosma, K., Smith, C. S., Tzetis, M., Schuette, J. L., and 36 others. <strong>TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestations.</strong> Am. J. Hum. Genet. 97: 922-932, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26637982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26637982</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26637982[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.11.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26637982">O'Rawe et al. (2015)</a> identified a de novo hemizygous c.2419T-C transition (chrX.70,607,243T-C, GRCh37) in the TAF1 gene, resulting in a cys807-to-arg (C807R) substitution at a highly conserved residue in the central domain (DUF3591) that encompasses a HAT domain that interacts with TAF7 (<a href="/entry/600573">600573</a>). Although in vitro functional studies were not performed, the C807R mutation was predicted to destabilize this region and interfere with the interaction between TAF1 and TAF7. The mutation was not found in the dbSNP (build 137), 1000 Genomes Project, Exome Variant Server, or ExAC databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26637982" 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>.0004 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs864321629 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs864321629;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs864321629" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs864321629" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000203515 OR RCV001200506 OR RCV001849342" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000203515, RCV001200506, RCV001849342" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000203515...</a>
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<p>In a 6-year-old boy of European descent with X-linked syndromic intellectual developmental disorder-33 (MRXS33; <a href="/entry/300966">300966</a>), <a href="#24" class="mim-tip-reference" title="O'Rawe, J. A., Wu, Y., Dorfel, M. J., Rope, A. F., Au, P. Y. B., Parboosingh, J. S., Moon, S., Kousi, M., Kosma, K., Smith, C. S., Tzetis, M., Schuette, J. L., and 36 others. <strong>TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestations.</strong> Am. J. Hum. Genet. 97: 922-932, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26637982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26637982</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26637982[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.11.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26637982">O'Rawe et al. (2015)</a> identified a de novo hemizygous c.3736C-T transition (chrX.70,618,477C-T, GRCh37) in the TAF1 gene, resulting in an arg1246-to-trp (R1246W) substitution at a highly conserved residue important for binding with TAF7 (<a href="/entry/600573">600573</a>). Although in vitro functional studies were not performed, the R1246W mutation was predicted to interfere with the interaction between TAF1 and TAF7. The mutation was not found in the dbSNP (build 137), 1000 Genomes Project, Exome Variant Server, or ExAC databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26637982" 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>.0005 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33</strong>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs864321630 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs864321630;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs864321630" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs864321630" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000203533 OR RCV000522374" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000203533, RCV000522374" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000203533...</a>
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<p>In 3 boys of Columbian descent with X-linked syndromic intellectual developmental disorder-33 (MRXS33; <a href="/entry/300966">300966</a>), <a href="#24" class="mim-tip-reference" title="O'Rawe, J. A., Wu, Y., Dorfel, M. J., Rope, A. F., Au, P. Y. B., Parboosingh, J. S., Moon, S., Kousi, M., Kosma, K., Smith, C. S., Tzetis, M., Schuette, J. L., and 36 others. <strong>TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestations.</strong> Am. J. Hum. Genet. 97: 922-932, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26637982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26637982</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26637982[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.11.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26637982">O'Rawe et al. (2015)</a> identified a hemizygous c.1786C-T transition (chrX.70,602,671C-T, GRCh37) in the TAF1 gene, resulting in a pro596-to-ser (P596S) substitution at a highly conserved residue in the central domain (DUF3591) that encompasses a HAT domain that interacts with TAF7 (<a href="/entry/600573">600573</a>). Although in vitro functional studies were not performed, the P596S mutation was predicted to interfere with the interaction between TAF1 and TAF7. The mutation, which was inherited from the unaffected mother, was not found in the dbSNP (build 137), 1000 Genomes Project, Exome Variant Server, or ExAC databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26637982" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
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<div class="btn-group"> <button type="button" class="btn btn-default btn-xs dropdown-toggle mim-font" data-toggle="dropdown">rs864321631 <span class="caret"></span></button> <ul class="dropdown-menu"> <li><a href="https://www.ensembl.org/Homo_sapiens/Variation/Summary?v=rs864321631;toggle_HGVS_names=open" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'ensembl.org'})">Ensembl</a></li> <li><a href="https://www.ncbi.nlm.nih.gov/snp/?term=rs864321631" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'www.ncbi.nlm.nih.gov'})">NCBI</a></li> <li><a href="https://genome.ucsc.edu/cgi-bin/hgTracks?org=Human&db=hg38&clinvar=pack&omimAvSnp=pack&position=rs864321631" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'dbSNP', 'domain': 'genome.ucsc.edu'})">UCSC</a></li> </ul> </div>
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<a href="https://www.ncbi.nlm.nih.gov/clinvar?term=RCV000203549 OR RCV001849343" target="_blank" class="btn btn-default btn-xs mim-tip-hint" title="RCV000203549, RCV001849343" onclick="gtag('event', 'mim_outbound', {'name': 'ClinVar', 'domain': 'ncbi.nlm.nih.gov'})">RCV000203549...</a>
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<p>In a 3-year-old boy of Spanish descent with X-linked syndromic intellectual developmental disorder-33 (MRXS33; <a href="/entry/300966">300966</a>), <a href="#24" class="mim-tip-reference" title="O'Rawe, J. A., Wu, Y., Dorfel, M. J., Rope, A. F., Au, P. Y. B., Parboosingh, J. S., Moon, S., Kousi, M., Kosma, K., Smith, C. S., Tzetis, M., Schuette, J. L., and 36 others. <strong>TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestations.</strong> Am. J. Hum. Genet. 97: 922-932, 2015.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26637982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26637982</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26637982[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ajhg.2015.11.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="26637982">O'Rawe et al. (2015)</a> identified identified a de novo hemizygous c.2926G-C transversion (chrX.70,612,503G-C, GRCh37) in the TAF1 gene, resulting in an asp976-to-his (D976H) substitution at a highly conserved residue in the central domain (DUF3591) that encompasses a HAT domain that interacts with TAF7 (<a href="/entry/600573">600573</a>). Although in vitro functional studies were not performed, the D976H mutation was predicted to interfere with the interaction between TAF1 and TAF7. The mutation was not found in the dbSNP (build 137), 1000 Genomes Project, Exome Variant Server, or ExAC databases. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26637982" 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="#Giles1979" class="mim-tip-reference" title="Giles, R. E., Ruddle, F. H. <strong>X-linkage of a human genetic locus that corrects the DNA synthesis lesion in tsC1AGOH mouse cells.</strong> Genetics 93: 975-996, 1979.">Giles and Ruddle (1979)</a>; <a href="#Goto2005" class="mim-tip-reference" title="Goto, S., Lee, L. V., Munoz, E. L., Tooyama, I., Tamiya, G., Makino, S., Ando, S., Dantes, M. B., Yamada, K., Matsumoto, S., Shimazu, H., Kuratsu, J., Hirano, A., Kaji, R. <strong>Functional anatomy of the basal ganglia in X-linked recessive dystonia-parkinsonism.</strong> Ann. Neurol. 58: 7-17, 2005.">Goto et al. (2005)</a>; <a href="#Haberhausen1995" class="mim-tip-reference" title="Haberhausen, G., Schmitt, I., Kohler, A., Peters, U., Rider, S., Chelly, J., Terwilliger, J. D., Monaco, A. P., Muller, U. <strong>Assignment of the dystonia-Parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1.</strong> Am. J. Hum. Genet. 57: 644-650, 1995.">Haberhausen et al.
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(1995)</a>; <a href="#Nemeth1999" class="mim-tip-reference" title="Nemeth, A. H., Nolte, D., Dunne, E., Niemann,, S., Kostrzewa, M., Peters, U., Fraser, E., Bochukova, E., Butler, R., Brown, J., Cox, R. D., Levy, E. R., Ropers, H. H., Monaco, A. P., Muller, U. <strong>Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3).</strong> Genomics 60: 320-329, 1999.">Nemeth et al. (1999)</a>; <a href="#Simchen1978" class="mim-tip-reference" title="Simchen, G. <strong>Cell cycle mutants.</strong> Annu. Rev. Genet. 12: 161-191, 1978.">Simchen (1978)</a>; <a href="#Slater1976" class="mim-tip-reference" title="Slater, M. L., Ozer, H. L. <strong>Temperature-sensitive mutants of Balb-3T3 cells: description of a mutant affected in cellular and polyoma virus DNA synthesis.</strong> Cell 7: 289-295, 1976.">Slater and Ozer (1976)</a>; <a href="#Waters1993" class="mim-tip-reference" title="Waters, C. H., Faust, P. L., Powers, J., Vinters, H., Moskowitz, C., Nygaard, T., Hunt, A. L., Fahn, S. <strong>Neuropathology of lubag (X-linked dystonia parkinsonism).</strong> Mov. Disord. 8: 387-390, 1993.">Waters et al. (1993)</a>
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|
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|
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Brown, C. J., Sekiguchi, T., Nishimoto, T., Willard, H. F.
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<strong>Regional localization of CCG1 gene which complements hamster cell cycle mutation BN462 to Xq11-Xq13.</strong>
|
|
Somat. Cell Molec. Genet. 15: 93-96, 1989.
|
|
|
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2916166/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2916166</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2916166" 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/BF01534674" target="_blank">Full Text</a>]
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Christova, R., Oelgeschlager, T.
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<strong>Association of human TFIID-promoter complexes with silenced mitotic chromatin in vivo.</strong>
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Nature Cell Biol. 4: 79-82, 2002.
|
|
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11744923/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11744923</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11744923" 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/ncb733" target="_blank">Full Text</a>]
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Derry, J. M. J., Barnard, P. J.
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<strong>Localization of the Ccg1 gene on the mouse X chromosome. (Abstract)</strong>
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Cytogenet. Cell Genet. 51: 988, 1989.
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Dikstein, R., Ruppert, S., Tjian, R.
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<strong>TAFII250 is a bipartite protein kinase that phosphorylates the base transcription factor RAP74.</strong>
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Cell 84: 781-790, 1996.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8625415/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8625415</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8625415" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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Flynn, E. M., Huang, O. W., Poy, F., Oppikofer, M., Bellon, S. F., Tang, Y., Cochran, A. G.
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<strong>A subset of human bromodomains recognizes butyryllysine and crotonyllysine histone peptide modifications.</strong>
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Structure 23: 1801-1814, 2015.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26365797/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26365797</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=26365797" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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<strong>X-linkage of a human genetic locus that corrects the DNA synthesis lesion in tsC1AGOH mouse cells.</strong>
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Genetics 93: 975-996, 1979.
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[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/296762/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">296762</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=296762" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
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|
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<a id="Goto2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Goto, S., Lee, L. V., Munoz, E. L., Tooyama, I., Tamiya, G., Makino, S., Ando, S., Dantes, M. B., Yamada, K., Matsumoto, S., Shimazu, H., Kuratsu, J., Hirano, A., Kaji, R.
|
|
<strong>Functional anatomy of the basal ganglia in X-linked recessive dystonia-parkinsonism.</strong>
|
|
Ann. Neurol. 58: 7-17, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15912496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15912496</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15912496" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.20513" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Haberhausen1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Haberhausen, G., Schmitt, I., Kohler, A., Peters, U., Rider, S., Chelly, J., Terwilliger, J. D., Monaco, A. P., Muller, U.
|
|
<strong>Assignment of the dystonia-Parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1.</strong>
|
|
Am. J. Hum. Genet. 57: 644-650, 1995.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7668293/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7668293</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7668293" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="Herzfeld2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Herzfeld, T., Nolte, D., Muller, U.
|
|
<strong>Structural and functional analysis of the human TAF1/DYT3 multiple transcript system.</strong>
|
|
Mammalian Genome 18: 787-795, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17952504/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17952504</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17952504" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/s00335-007-9063-z" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="Hisatake1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hisatake, K., Hasegawa, S., Takada, R., Nakatani, Y., Horikoshi, M., Roeder, R. G.
|
|
<strong>The p250 subunit of native TATA box-binding factor TFIID is the cell-cycle regulatory protein CCG1.</strong>
|
|
Nature 362: 179-181, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8450888/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8450888</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8450888" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/362179a0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Jacobson2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Jacobson, R. H., Ladurner, A. G., King, D. S., Tjian, R.
|
|
<strong>Structure and function of a human TAFII250 double bromodomain module.</strong>
|
|
Science 288: 1422-1425, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10827952/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10827952</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10827952" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.288.5470.1422" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Jha1977" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Jha, K. K., Ozer, H. L.
|
|
<strong>Genetic studies with a mutant mouse cell, ts-2 Balb-3T3, with a temperature-sensitive defect in DNA synthesis. (Abstract)</strong>
|
|
Genetics 86: s32-s33, 1977.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Jha1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Jha, K. K., Siniscalco, M., Ozer, H. L.
|
|
<strong>Temperature-sensitive mutants of Balb-3T3 cells. III. Hybrids between ts2 and other mouse mutant cells affected in DNA synthesis and correction of ts2 defect by human X chromosome.</strong>
|
|
Somat. Cell Genet. 6: 603-614, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6933701/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6933701</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6933701" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF01538640" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Lee1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lee, D. K., Horikoshi, M., Roeder, R. G.
|
|
<strong>Interaction of TFIID in the minor groove of the TATA element.</strong>
|
|
Cell 67: 1241-1250, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1760848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1760848</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1760848" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0092-8674(91)90300-n" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Lewis2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Lewis, B. A., Sims, R. J., III, Lane, W. S., Reinberg, D.
|
|
<strong>Functional characterization of core promoter elements: DPE-specific transcription requires the protein kinase CK2 and the PC4 coactivator.</strong>
|
|
Molec. Cell 18: 471-481, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15893730/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15893730</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15893730" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.molcel.2005.04.005" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Li2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Li, A. G., Piluso, L. G., Cai, X., Gadd, B. J., Ladurner, A. G., Liu, X.
|
|
<strong>An acetylation switch in p53 mediates holo-TFIID recruitment.</strong>
|
|
Molec. Cell 28: 408-421, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17996705/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17996705</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17996705" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.molcel.2007.09.006" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Maile2004" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Maile, T., Kwoczynski, S., Katzenberger, R. J., Wassarman, D. A., Sauer, F.
|
|
<strong>TAF1 activates transcription by phosphorylation of serine 33 in histone H2B.</strong>
|
|
Science 304: 1010-1014, 2004. Note: Retraction: Science 344: 981 only, 2014.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15143281/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15143281</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15143281" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.1095001" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Makino2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Makino, S., Kaji, R., Ando, S., Tomizawa, M., Yasuno, K., Goto, S., Matsumoto, S., Tabuena, M. D., Maranon, E., Dantes, M., Lee, L. V., Ogasawara, K., Tooyama, I., Akatsu, H., Nishimura, M., Tamiya, G.
|
|
<strong>Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism.</strong>
|
|
Am. J. Hum. Genet. 80: 393-406, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17273961/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17273961</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=17273961[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=17273961" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1086/512129" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Nelson1995" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nelson, D. L., Ballabio, A., Cremers, F., Monaco, A. P., Schlessinger, D.
|
|
<strong>Report of the sixth international workshop on X chromosome mapping 1995.</strong>
|
|
Cytogenet. Cell Genet. 71: 308-342, 1995.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Nemeth1999" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nemeth, A. H., Nolte, D., Dunne, E., Niemann,, S., Kostrzewa, M., Peters, U., Fraser, E., Bochukova, E., Butler, R., Brown, J., Cox, R. D., Levy, E. R., Ropers, H. H., Monaco, A. P., Muller, U.
|
|
<strong>Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3).</strong>
|
|
Genomics 60: 320-329, 1999.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/10493831/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">10493831</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=10493831" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1006/geno.1999.5929" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Nishimoto1982" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nishimoto, T., Sekiguchi, T., Kai, R., Yamashita, K., Takahashi, T., Sekiguchi, M.
|
|
<strong>Large-scale selection and analysis of temperature-sensitive mutants for cell reproduction from BHK cells.</strong>
|
|
Somat. Cell Genet. 8: 811-812, 1982.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6891837/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6891837</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6891837" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF01543021" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Nolte2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Nolte, D., Niemann, S., Muller, U.
|
|
<strong>Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism.</strong>
|
|
Proc. Nat. Acad. Sci. 100: 10347-10352, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12928496/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12928496</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=12928496[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=12928496" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1073/pnas.1831949100" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="O'Brien1998" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
O'Brien, T., Tjian, R.
|
|
<strong>Functional analysis of the human TAFII250 N-terminal kinase domain.</strong>
|
|
Molec. Cell 1: 905-911, 1998.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/9660973/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">9660973</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=9660973" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s1097-2765(00)80089-1" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="O'Rawe2015" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
O'Rawe, J. A., Wu, Y., Dorfel, M. J., Rope, A. F., Au, P. Y. B., Parboosingh, J. S., Moon, S., Kousi, M., Kosma, K., Smith, C. S., Tzetis, M., Schuette, J. L., and 36 others.
|
|
<strong>TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestations.</strong>
|
|
Am. J. Hum. Genet. 97: 922-932, 2015.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/26637982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">26637982</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=26637982[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=26637982" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.ajhg.2015.11.005" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Papai2010" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Papai, G., Tripathi, M. K., Ruhlmann, C., Layer, J. H., Weil, P. A., Schultz, P.
|
|
<strong>TFIIA and the transactivator Rap1 cooperate to commit TFIID for transcription initiation.</strong>
|
|
Nature 465: 956-960, 2010.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/20559389/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">20559389</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=20559389[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=20559389" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/nature09080" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Patel2018" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Patel, A. B., Louder, R. K., Greber, B. J., Grunberg, S., Luo, J., Fang, J., Liu, Y., Ranish, J., Hahn, S., Nogales, E.
|
|
<strong>Structure of human TFIID and mechanism of TBP loading onto promoter DNA.</strong>
|
|
Science 362: eaau8872, 2018. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/30442764/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">30442764</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=30442764" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.aau8872" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Pijnappel2013" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Pijnappel, W. W. M. P., Esch, D., Baltissen, M. P. A., Wu, G., Mischerikow, N., Bergsma, A. J., van der Wal, E., Han, D. W., vom Bruch, H., Moritz, S., Lijnzaad, P., Altelaar, A. F. M., Sameith, K., Zaehres, H., Heck, A. J. R., Holstege, F. C. P., Scholer, H. R., Timmers, H. T. M.
|
|
<strong>A central role for TFIID in the pluripotent transcription circuitry.</strong>
|
|
Nature 495: 516-519, 2013.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/23503660/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">23503660</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=23503660" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/nature11970" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Ruppert1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Ruppert, S., Wang, E. H., Tjian, R.
|
|
<strong>Cloning and expression of human TAF(II)250: a TBP-associated factor implicated in cell-cycle regulation.</strong>
|
|
Nature 362: 175-179, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7680771/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7680771</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7680771" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/362175a0" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Schwartz1977" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schwartz, H. E., Holmes, S., Meiss, H. K.
|
|
<strong>Assignment of temperature-sensitive mutations of BHK cells to the X-chromosome. (Abstract)</strong>
|
|
J. Cell Biol. 75: 393A, 1977.
|
|
|
|
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Schwartz1979" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Schwartz, H. E., Moser, G. C., Holmes, S., Meiss, H. K.
|
|
<strong>Assignment of temperature-sensitive mutations of BHK cells to the X-chromosome.</strong>
|
|
Somat. Cell Genet. 5: 217-224, 1979.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/573507/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">573507</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=573507" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF01539162" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Sekiguchi1988" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sekiguchi, T., Miyata, T., Nishimoto, T.
|
|
<strong>Molecular cloning of the cDNA of human X chromosomal gene (CCG1) which complements the temperature-sensitive G(1) mutants, tsBN462 and ts13, of the BHK cell line.</strong>
|
|
EMBO J. 7: 1683-1687, 1988.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3169001/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3169001</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3169001" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/j.1460-2075.1988.tb02996.x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="32" class="mim-anchor"></a>
|
|
<a id="Sekiguchi1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sekiguchi, T., Nohiro, Y., Nakamura, Y., Hisamoto, N., Nishimoto, T.
|
|
<strong>The human CCG1 gene, essential for progression of the G1 phase, encodes a 210-kilodalton nuclear DNA-binding protein.</strong>
|
|
Molec. Cell. Biol. 11: 3317-3325, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2038334/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2038334</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2038334" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1128/mcb.11.6.3317-3325.1991" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="33" class="mim-anchor"></a>
|
|
<a id="Sekiguchi1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Sekiguchi, T., Yoshida, M. C., Sekiguchi, M., Nishimoto, T.
|
|
<strong>Isolation of a human X chromosome-linked gene essential for progression from G1 to S phase of the cell cycle.</strong>
|
|
Exp. Cell Res. 169: 395-407, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3556424/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3556424</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3556424" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0014-4827(87)90200-x" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="34" class="mim-anchor"></a>
|
|
<a id="Simchen1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Simchen, G.
|
|
<strong>Cell cycle mutants.</strong>
|
|
Annu. Rev. Genet. 12: 161-191, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/106766/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">106766</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=106766" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1146/annurev.ge.12.120178.001113" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="35" class="mim-anchor"></a>
|
|
<a id="Slater1976" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Slater, M. L., Ozer, H. L.
|
|
<strong>Temperature-sensitive mutants of Balb-3T3 cells: description of a mutant affected in cellular and polyoma virus DNA synthesis.</strong>
|
|
Cell 7: 289-295, 1976.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/182373/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">182373</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=182373" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0092-8674(76)90028-3" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="36" class="mim-anchor"></a>
|
|
<a id="Starr1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Starr, D. B., Hawley, D. K.
|
|
<strong>TFIID binds in the minor groove of the TATA box.</strong>
|
|
Cell 67: 1231-1240, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1760847/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1760847</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1760847" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0092-8674(91)90299-e" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="37" class="mim-anchor"></a>
|
|
<a id="Vermeulen2007" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Vermeulen, M., Mulder, K. W., Denissov, S., Pim Pijnappel, W. W. M., van Schaik, F. M. A., Varier, R. A., Baltissen, M. P. A., Stunnenberg, H. G., Mann, M., Timmers, H. T. M.
|
|
<strong>Selective anchoring of TFIID to nucleosomes by trimethylation of histone H3 lysine 4.</strong>
|
|
Cell 131: 58-69, 2007.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/17884155/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">17884155</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=17884155" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.cell.2007.08.016" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="38" class="mim-anchor"></a>
|
|
<a id="Vermeulen1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Vermeulen, W., van Vuuren, A. J., Chipoulet, M., Schaeffer, L., Appeldoorn, E., Weeda, G., Jaspers, N. G. J., Priestley, A., Arlett, C. F., Lehmann, A. R., Stefanini, M., Mezzina, M., Sarasin, A., Bootsma, D., Egly, J.-M., Hoeijmakers, J. H. J.
|
|
<strong>Three unusual repair deficiencies associated with transcription factor BTF2(TFIIH): evidence for the existence of a transcription syndrome.</strong>
|
|
Cold Spring Harbor Symp. Quant. Biol. 59: 317-329, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7587084/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7587084</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7587084" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1101/sqb.1994.059.01.036" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="39" class="mim-anchor"></a>
|
|
<a id="Waters1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Waters, C. H., Faust, P. L., Powers, J., Vinters, H., Moskowitz, C., Nygaard, T., Hunt, A. L., Fahn, S.
|
|
<strong>Neuropathology of lubag (X-linked dystonia parkinsonism).</strong>
|
|
Mov. Disord. 8: 387-390, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8341310/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8341310</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8341310" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/mds.870080328" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="40" class="mim-anchor"></a>
|
|
<a id="Yudkovsky2000" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Yudkovsky, N., Ranish, J. A., Hahn, S.
|
|
<strong>A transcription reinitiation intermediate that is stabilized by activator.</strong>
|
|
Nature 408: 225-229, 2000.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11089979/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11089979</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11089979" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/35041603" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
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|
|
|
|
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|
|
|
|
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|
|
|
|
|
|
|
|
|
|
|
|
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|
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<span class="mim-text-font">
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Bao Lige - updated : 06/10/2019
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</span>
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</div>
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<div class="row collapse" id="mimCollapseContributors">
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<span class="mim-text-font">
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Ada Hamosh - updated : 01/24/2019<br>Cassandra L. Kniffin - updated : 1/8/2016<br>Ada Hamosh - updated : 9/25/2013<br>Patricia A. Hartz - updated : 8/8/2011<br>Ada Hamosh - updated : 7/1/2010<br>Paul J. Converse - updated : 5/15/2009<br>Patricia A. Hartz - updated : 1/24/2008<br>Victor A. McKusick - updated : 2/8/2007<br>Patricia A. Hartz - updated : 6/24/2005<br>Ada Hamosh - updated : 6/9/2004<br>George E. Tiller - updated : 5/16/2003<br>Patricia A. Hartz - updated : 3/11/2003<br>Ada Hamosh - updated : 11/8/2000<br>Ada Hamosh - updated : 5/24/2000<br>Stylianos E. Antonarakis - updated : 1/31/1999<br>Victor A. McKusick - updated : 6/17/1997<br>Alan F. Scott - updated : 8/2/1995
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<a id="creationDate" class="mim-anchor"></a>
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<div class="row">
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<span class="text-nowrap mim-text-font">
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Creation Date:
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</span>
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</div>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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Victor A. McKusick : 6/4/1986
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</div>
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<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
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<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
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<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 08/20/2021
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<div class="row collapse" id="mimCollapseEditHistory">
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<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
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<span class="mim-text-font">
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alopez : 02/19/2021<br>carol : 10/14/2019<br>mgross : 06/10/2019<br>alopez : 01/24/2019<br>carol : 03/03/2017<br>carol : 01/11/2016<br>ckniffin : 1/8/2016<br>alopez : 7/9/2014<br>alopez : 9/25/2013<br>mgross : 2/5/2013<br>mgross : 1/29/2013<br>mgross : 9/13/2011<br>terry : 8/8/2011<br>terry : 8/8/2011<br>alopez : 7/2/2010<br>alopez : 7/2/2010<br>alopez : 7/2/2010<br>terry : 7/1/2010<br>mgross : 5/18/2009<br>mgross : 5/18/2009<br>terry : 5/15/2009<br>wwang : 3/27/2008<br>mgross : 1/24/2008<br>alopez : 2/13/2007<br>terry : 2/8/2007<br>mgross : 6/24/2005<br>mgross : 3/24/2005<br>alopez : 6/9/2004<br>terry : 6/9/2004<br>cwells : 5/16/2003<br>mgross : 3/18/2003<br>terry : 3/11/2003<br>joanna : 12/5/2001<br>alopez : 11/8/2000<br>alopez : 5/26/2000<br>alopez : 5/25/2000<br>carol : 5/24/2000<br>alopez : 8/16/1999<br>mgross : 3/16/1999<br>psherman : 2/1/1999<br>carol : 1/31/1999<br>terry : 7/30/1998<br>terry : 6/23/1997<br>terry : 6/23/1997<br>terry : 6/17/1997<br>mark : 5/1/1997<br>terry : 4/17/1996<br>mark : 2/28/1996<br>mark : 2/27/1996<br>mark : 2/27/1996<br>mark : 9/17/1995<br>mimadm : 2/28/1994<br>carol : 11/10/1993<br>carol : 5/7/1993<br>supermim : 3/17/1992
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<h3>
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<span class="mim-font">
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<strong>*</strong> 313650
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</span>
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</h3>
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</div>
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<div>
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<h3>
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<span class="mim-font">
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TAF1 RNA POLYMERASE II, TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR, 250-KD; TAF1
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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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<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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TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 1<br />
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TATA BOX-BINDING PROTEIN-ASSOCIATED FACTOR 2A; TAF2A<br />
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TBP-ASSOCIATED FACTOR, RNA POLYMERASE II, 250-KD; TAFII250<br />
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CELL CYCLE, G1 PHASE DEFECT; CCG1<br />
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CELL CYCLE GENE 1<br />
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CELL CYCLE BLOCK, G1-TO-S; CCGS<br />
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BA2R
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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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<p>
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<span class="mim-font">
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Other entities represented in this entry:
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</span>
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</p>
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</div>
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<div>
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<span class="h3 mim-font">
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TRANSCRIPTION FACTOR IID, INCLUDED; TFIID, INCLUDED; TF2D, INCLUDED
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</span>
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</div>
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<div>
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<span class="h4 mim-font">
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TATA-BINDING PROTEIN-CONTAINING COMPLEX, INCLUDED
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</span>
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</div>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong><em>HGNC Approved Gene Symbol: TAF1</em></strong>
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</span>
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</p>
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</div>
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<div>
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<p>
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<span class="mim-text-font">
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<strong>SNOMEDCT:</strong> 1237420004, 698279003;
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</span>
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</p>
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<br />
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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: Xq13.1
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Genomic coordinates <span class="small">(GRCh38)</span> : X:71,366,357-71,530,525 </span>
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</em>
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</strong>
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<span class="small">(from NCBI)</span>
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</span>
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</p>
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</div>
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<div>
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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>Gene-Phenotype Relationships</strong>
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</span>
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</h4>
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<div>
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<table class="table table-bordered table-condensed small mim-table-padding">
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<thead>
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<tr class="active">
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<th>
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Location
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</th>
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<th>
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Phenotype
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</th>
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<th>
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Phenotype <br /> MIM number
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</th>
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<th>
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Inheritance
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</th>
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<th>
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Phenotype <br /> mapping key
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</th>
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</tr>
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</thead>
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<tbody>
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<tr>
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<td rowspan="2">
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<span class="mim-font">
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Xq13.1
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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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Dystonia-Parkinsonism, X-linked
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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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314250
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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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X-linked recessive
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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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3
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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">
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Intellectual developmental disorder, X-linked syndromic 33
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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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300966
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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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X-linked recessive
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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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3
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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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<br />
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</div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>TEXT</strong>
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</span>
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</h4>
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<div>
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<h4>
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<span class="mim-font">
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<strong>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>Transcription factor IID (TFIID) is a DNA-binding protein complex required for RNA polymerase II (see POLR2A; 180660)-mediated transcription of many, if not all, protein-encoding genes in eukaryotic cells. Other general transcription factors are TFIIA (600519, 600520), TFIIB (189963), TFIIE (189962, 189964), TFIIF (189968), TFIIG/J, and TFIIH (189972). TFIID plays a key role in initiation, since it binds to the TATA element to form a complex that nucleates the assembly of the other components into a preinitiation complex and that may be stable through multiple rounds of transcription. TAF1, or TAFII250, is the largest subunit of TFIID. Other protein subunits of TFIID include TATA box-binding protein (TBP; 600075) and numerous other TBP-associated factors (TAFs; see 600475). TFIID is thought to interact with TFIIA, which may stabilize its binding, and with TFIIB, which is the next factor to enter the complex.</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>Cloning and Expression</strong>
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</span>
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</h4>
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</div>
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<span class="mim-text-font">
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<p>By somatic cell hybridization, Jha and Ozer (1977) found synteny of human HGPRT (308000) on the X chromosome and a human gene correcting for a temperature-sensitive defect in DNA synthesis in a particular mouse cell line. Jha et al. (1980) assigned the gene, which they called BA2R, to Xq13-q27. Schwartz et al. (1977, 1979) found that a temperature-sensitive mutation in hamster cells (BHK21) was also X-linked and could be complemented by the human X chromosome. Sekiguchi et al. (1987) studied a temperature-sensitive mutant isolated from the hamster cell line BHK21/13, which cannot progress into S phase at 39.5 degrees C, following release from isoleucine deprivation. (The original description of this mutant cell line was given by Nishimoto et al. (1982).) The mutant cells were transfected with high molecular weight DNA from human cells, and several human DNA bands were found to be conserved through 3 cycles of transformation to temperature resistance. A 70-kb human DNA band was mapped to the region Xpter-q21 by study of human-mouse hybrid cells. </p><p>Sekiguchi et al. (1988) cloned the X-linked gene that corrects the defect in the temperature-sensitive hamster cell line. They isolated the gene, which they called CCG1, from a secondary ts(+) transformant using DNA-mediated gene transfer of total human DNA and a cosmid vector. The isolated cDNA complemented a temperature-sensitive mutation with a clear defect in the G1 phase, the most important phase for the control of cell proliferation. The cloned genomic cDNA was 5.3 kb long and had an open reading frame of 4,662 bp, encoding a protein of almost 180 kD. Sekiguchi et al. (1991) showed that the previously cloned cDNA for the CCG1 gene was a truncated form; authentic CCG1 cDNA is 6.0 kb and encodes a protein with a molecular mass of 210 kD. </p><p>Ruppert et al. (1993) described the cloning, expression, and properties of the 250-kD subunit of transcription factor IID, TAFII250, which was found to be identical to CCG1 (see also Hisatake et al. (1993)). </p><p>By screening human fetal brain, leukocyte, and placenta cDNA libraries using a PCR-based enrichment method, followed by RT-PCR of caudate nucleus RNA, Nolte et al. (2003) identified 8 splice variants of TAF1 containing novel 3-prime exons, which they referred to as DYT3 transcripts. Six of the variants contain previously identified TAF1 coding exons at their 5-prime ends, whereas 2 of the variants contain only novel 3-prime exons. </p><p>Herzfeld et al. (2007) stated that the first 38 exons of the TAF1 gene encode the highly conserved 250-kD subunit of TFIID. By RT-PCR of human fetal brain and caudate nucleus, they identified several alternatively spliced transcripts that initiated with exon 26, skipped exon 38, and contained some of the 3-prime exons reported by Nolte et al. (2003). These 3-prime exons encode sequences not included in the 250-kb subunit. </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 Structure</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>Nolte et al. (2003) stated that the TAF1 gene contains at least 38 exons, and they identified 5 additional downstream exons. Herzfeld et al. (2007) called these 5 downstream exons d1 through d5. Their analysis suggested that these downstream exons are much younger than the first 38 highly conserved exons and were added approximately 30 million years ago. In the region upstream from exon d2, Herzfeld et al. (2007) identified a TATA-less promoter within a CpG island that contains an initiator element and binding sites for several putative transcription factors, including a functional Ikaros (see 603023)-binding site. </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>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>Brown et al. (1989) assigned the human CCG1 gene, which complements the temperature-sensitive hamster cell cycle mutations BN462 and ts13, to Xq11-q13 by study of somatic cell hybrids segregating portions of various X-autosome translocations. Derry and Barnard (1989) showed that the mouse equivalent, Ccg1, is located on the X chromosome. They determined its position relative to 7 other X-linked gene markers. Very close linkage was found to the gene for the alpha subunit of phosphorylase kinase of muscle (PHKA1; 311870), and the locus was found to be situated between the androgen receptor locus proximally and the phosphoroglycerate kinase locus distally. Assuming conservation of gene order, this supports the location of the human CCG1 locus on Xq, probably in the region Xq11-q13. This location is consistent with the positioning of the gene 7 Mb from pter on the megabase scale presented by Nelson et al. (1995). </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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</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 largest subunit of human TFIID, TAFII250, contains serine/threonine kinase domains that can autophosphorylate and transphosphorylate the large subunit of the basal factor TFIIF (Dikstein et al., 1996). O'Brien and Tjian (1998) identified the regions of the N-terminal kinase domain (amino acids 1-414) necessary for kinase activity and examined its function in vivo. Point mutations within 2 patches of amino acids in the kinase domain decrease both autophosphorylation and transphosphorylation activities. The TAFII250-bearing mutations within the N-terminal kinase domain exhibited a significantly reduced ability to rescue ts13 cells that express a temperature-sensitive TAFII250. Moreover, transcription from the cyclin A and cdc2 promoters became impaired when cotransfected with TAFII250 containing inactive forms of the N-terminal kinase domain. </p><p>Jacobson et al. (2000) demonstrated that the TFIID 250-kD subunit contains 2 tandem bromodomain modules that bind selectively to multiply acetylated histone H4 peptides. The 2.1-angstrom crystal structure of the double bromodomain reveals 2 side-by-side, 4-helix bundles with a highly polarized surface charge distribution. Each bundle contains an N(epsilon)-acetyllysine-binding pocket at its center, which results in a structure ideally suited for recognition of diacetylated histone H4 tails. Jacobson et al. (2000) concluded that TFIID may be targeted to specific chromatin-bound promoters and may play a role in chromatin recognition. </p><p>Acetylation of p53 (TP53; 191170) in response to DNA damage enhances its ability to bind DNA and recruit transcriptional coactivators to p53-responsive promoters. Li et al. (2007) showed that acetylation of lys373 and lys382 on p53 led to their direct interaction with the tandem bromodomains of TAF1. p53 recruited TAF1 to a distal p53-binding site on the p21 (CDKN1A; 116899) promoter prior to the DNA looping that brings TAF1 to the TATA box-containing core promoter. </p><p>Using peptide arrays, Flynn et al. (2015) found that, in addition to acetylated lysine (Kac), TAF1 recognized butyrylated lysine (Kbu) in histone. A 'gatekeeper' tyrosine in the bromodomain of TAF1 was responsible for this expanded acyl recognition. In addition, the second bromodomain of TAF1 could recognize histone with crotonylated lysine (Kcr). </p><p><strong><em>Transcription Factor IID</em></strong></p><p>
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Starr and Hawley (1991) and Lee et al. (1991) demonstrated that, unlike most sequence-specific DNA-binding proteins, TFIID interacts primarily within the minor groove of the DNA helix. Binding of TFIID appears to be the first step in the formation of a transcription-competent complex, followed by TFIIB, RNA polymerase II, and the remaining factors. TFIID may also serve to link the control of transcription to the cell cycle. </p><p>High levels of gene transcription by RNA polymerase II depend on high rates of transcription initiation and reinitiation. Initiation requires recruitment of the complete transcription machinery to a promoter, a process facilitated by activators and chromatin remodeling factors. Reinitiation is thought to occur through a different pathway. After initiation, a subset of the transcription machinery remains at the promoter, forming a platform for assembly of a second transcription complex. Yudkovsky et al. (2000) described the isolation of a reinitiation intermediate in yeast that includes transcription factors TFIID, TFIIA, TFIIH, TFIIE, and Mediator (see 602984). This intermediate can act as a scaffold for formation of a functional reinitiation complex. Formation of this scaffold is dependent on ATP and TFIIH. In yeast, the scaffold is stabilized in the presence of the activator Gal4-VP16, but not Gal4-AH, suggesting a new role for some activators and Mediator in promoting high levels of transcription. </p><p>Christova and Oelgeschlager (2002) found that TFIID can act as a 'bookmark' to identify previously active genes for rapid reactivation after cell division. Both TFIID and TFIIB remained associated with active gene promoters during condensation of chromatin and mitosis in asynchronous and mitotic human cell populations, whereas RNA polymerase II was displaced, and NC2 (see 601482) was displaced from some, but not all, gene promoters. Christova and Oelgeschlager (2002) concluded that TFIID-promoter complexes can withstand condensation of chromatin into transcriptionally silent chromosomes and therefore could propagate cell type-specific gene expression patterns through cell division. </p><p>Downstream core promoter elements (DPE) are regulatory sequences that add diversity to the promoter architecture of RNA polymerase II-transcribed genes. Despite a functional correlation between the presence of TFIID and DPE, Lewis et al. (2005) found that TFIID was insufficient for DPE-specific transcription in HeLa cells. Using a functional transcription assay coupled with conventional biochemistry, they found that protein kinase CK2 (see CSNK2A1; 115440), in conjunction with the coactivator PC4 (600503), established DPE-specific transcription. </p><p>Trimethylation of histone H3 (see 602810) at lys4 (H3K4me3) is a hallmark of active human promoters. Using stable isotope labeling by amino acids in cell culture (SILAC)-based proteomic screening, Vermeulen et al. (2007) showed that TFIID bound directly to H3K4me3 via the plant homeodomain (PHD) of the TFIID subunit TAF3 (606576). Selective loss of H3K4me3 reduced transcription from and TFIID binding to a subset of promoters in vivo. Equilibrium binding assays and competition experiments indicated that the TAF3 PHD finger was highly selective for H3K4me3. In transient assays, TAF3 could act as a transcriptional activator in a PHD finger-dependent manner. Asymmetric dimethylation of H3 at arg2 selectively inhibited binding of TFIID to H3K4me3, whereas acetylation of H3 at lys9 and lys14 potentiated interaction of TFIID with H3K4me3. Vermeulen et al. (2007) concluded that there is crosstalk between histone modifications and TFIID. </p><p>Pijnappel et al. (2013) showed that knockdown of the TFIID complex affects the pluripotent circuitry in mouse embryonic stem (ES) cells and inhibits reprogramming of fibroblasts. TFIID subunits and OSKM factors Oct4 (164177), Sox2 (184429), Klf4 (602253), and Myc (190080) form a feed-forward loop to induce and maintain a stable transcription state. Notably, transient expression of TFIID subunits greatly enhanced reprogramming. Pijnappel et al. (2013) concluded that TFIID is critical for transcription factor-mediated reprogramming. </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>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>Cryoelectron Microscopy</em></strong></p><p>
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Papai et al. (2010) used cryoelectron microscopy to determine the architecture of nucleoprotein complexes composed of TFIID, TFIIA (see 600519), the transcriptional activator RAP1 (605061), and yeast enhancer-promoter DNA. These structures revealed the mode of binding of RAP1 and TFIIA to TFIID, as well as a reorganization of TFIIA induced by its interaction with RAP1. Papai et al. (2010) proposed that this change in position increases the exposure of TATA box-binding protein within TFIID, consequently enhancing its ability to interact with the promoter. A large RAP1-dependent DNA loop forms between the activator-binding site and the proximal promoter region. This loop is topologically locked by a TFIIA-RAP1 protein bridge that folds over the DNA. These results highlighted the role of TFIIA in transcriptional activation, defined the molecular mechanism for enhancer-promoter communication, and provided structural insights into the pathways of intramolecular communication that convey transcription activation signals through the TFIID complex. </p><p>Patel et al. (2018) used cryoelectron microscopy, chemical crosslinking mass spectrometry, and biochemical reconstitution to determine the complete molecular architecture of TFIID and defined the conformational landscape of TFIID in the process of loading TATA box-binding protein (TBP; 600075) onto promoter DNA. The structural analysis revealed 5 structural states of TFIID in the presence of TFIIA and promoter DNA, showing that the initial binding of TFIID to the downstream promoter positions the upstream DNA and facilitates scanning of TBP for a TATA box and the subsequent engagement of the promoter. Patel et al. (2018) concluded that their findings provided a mechanistic model for the specific loading of TBP by TFIID onto the promoter. </p><p><strong><em>Crystal Structure</em></strong></p><p>
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Flynn et al. (2015) found that the crystal structure of TAF1 complexed with Kbu adopted a conformation similar to that of BRD9 (618465) complexed with Kbu. However, the structure of the TAF1-Kcr complex revealed that the crotonyl group displaced 2 conserved structural water molecules from their usual positions and produced a significantly altered network of 5 rather than 6 water molecules. </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>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><strong><em>X-linked Dystonia-Parkinsonism</em></strong></p><p>
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X-linked dystonia-parkinsonism (XDP; 314250) is characterized by severe progressive torsion dystonia followed by parkinsonism. Its prevalence is particularly high (5.24 in 100,000) on Panay Island, Philippines. Makino et al. (2007) performed genomic sequencing of the complete XDP locus, designated DYT3, on Xq13.1 in a search for disease-specific mutations. The study included 67 Filipino individuals (20 affected males) from 16 families residing in Panay. The authors found a disease-specific SVA (short interspersed nuclear element, variable number of tandem repeats, and Alu composite) retrotransposon insertion in an intron of the TAF1, which encodes the largest component of the transcription factor IID (TFIID) complex. Studies of XDP postmortem brain showed significantly decreased expression levels of TAF1 and of the dopamine receptor D2 gene (DRD2; 126450) in the caudate nucleus. Makino et al. (2007) also identified an abnormal pattern of DNA methylation in the retrotransposon in the genome from the patient's caudate, which could account for decreased expression of TAF1. The findings were interpreted as indicating that reduced neuron-specific expression of the TAF1 gene is associated with XDP. </p><p>SVA retrotransposon insertions are thought to be active in the human genome and to alter the expression level of adjacent genes that cause diseases. The SVA retrotransposon has a high GC content (approximately 70%) and a large number of CpG sites (more than 150) in its nucleotide sequence, so that it is frequently hypermethylated in its insertion site. Makino et al. (2007) suggested that, in XDP, the decreased expression of the neuron-specific TA14-391 isoform, and probably other TAF1 isoforms, results in transcriptional dysregulation of many neuronal genes, including that which encodes dopamine receptor DR (DRD2; 126450). They suggested that the findings in XDP support the concept of 'transcription syndromes' involving TFIID (Vermeulen et al., 1994), which include congenital cataracts, facial dysmorphism, and neuropathy syndrome (CCFDN; 604168), caused by partial deficiency of RNA polymerase II (CTDP1; 604927); dentatorubral-pallidoluysian atrophy (DRPLA; 125370), caused by interference in the signals to TFIID; and spinocerebellar ataxia-17 (SCA17; 607136), caused by an expanded polyglutamine in the TATA-binding protein (TBP; 600075). </p><p><strong><em>X-linked Syndromic Intellectual Developmental Disorder 33</em></strong></p><p>
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In 12 boys from 9 unrelated families with X-linked syndromic intellectual developmental disorder-33 (MRXS33; 300966), O'Rawe et al. (2015) identified 9 different hemizygous mutations in the TAF1 gene (see, e.g., 313650.0002-313650.0006). Most of the mutations occurred de novo, although 3 were inherited from an unaffected mother, 1 of whom showed skewed X-inactivation. Functional studies were not performed, but many of the variants affected highly conserved residues in domains critical for interaction with TAF7 (600573), and were predicted to disrupt this interaction. Gene expression studies in 1 family with a missense mutation (I1337T; 313650.0002) suggested that the phenotype is associated with downregulation of a set of genes regulated by E-box proteins. The mutations were found by several strategies, including whole-genome sequencing, exome sequencing, targeted gene-panel sequencing, and microarray-based strategies, and all were confirmed by Sanger sequencing. </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>History</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>Maile et al. (2004) reported that serine-33 of histone H2B (see 609904) (H2B-S33) is a physiologic substrate for the TAF1 C-terminal kinase domain (CTK) and that H2B-S33 phosphorylation is essential for transcriptional activation events that promote cell cycle progression and development. Because of image manipulation that rendered the data, results, and conclusions not reliable, the journal Science retracted the paper of Maile et al. (2004) at the request of the University of California, Riverside and Dr. Frank Sauer. </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>O'Rawe et al. (2015) found that knockdown of the taf1 gene in zebrafish resulted in a 10% reduction in the relative area of the optic tectum, suggesting a neuronal defect. </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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<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>6 Selected Examples):</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 DYSTONIA-PARKINSONISM, X-LINKED</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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TAF1, SVA RETROTRANSPOSON INSERTION
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<br />
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ClinVar: RCV000010537
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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>Makino et al. (2007) demonstrated that the X-linked dystonia-parkinsonism that is very frequent in Filippinos living on Panay Island (DYT3; 314250) is caused by an SVA retrotransposon insertion in intron 32 of the TAF1 gene. The insertion is 2,627 bp in length. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0002 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33</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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TAF1, ILE1337THR
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<br />
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SNP: rs864321627,
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ClinVar: RCV000203524
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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>In 2 teenaged brothers of European descent with X-linked syndromic intellectual developmental disorder-33 (MRXS33; 300966) O'Rawe et al. (2015) identified a hemizygous c.4010T-C transition (chrX.70,621,541T-C, GRCh37) in the TAF1 gene, resulting in an ile1337-to-thr (I1337T) substitution at a highly conserved residue. The mutation was inherited from the unaffected mother who showed highly skewed X-inactivation. The mutation was not found in the dbSNP (build 137), 1000 Genomes Project, Exome Variant Server, or ExAC databases. Functional studies of the variant were not performed, but gene expression analysis of blood showed differential expression of over 200 genes between the affected boys and noncarrier family members, with an association with downregulation of a set of genes regulated by E-box proteins. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0003 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33</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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TAF1, CYS807ARG
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<br />
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SNP: rs864321628,
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ClinVar: RCV000203551
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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>In a 5-year-old boy of European descent with X-linked syndromic intellectual developmental disorder-33 (MRXS33; 300966), O'Rawe et al. (2015) identified a de novo hemizygous c.2419T-C transition (chrX.70,607,243T-C, GRCh37) in the TAF1 gene, resulting in a cys807-to-arg (C807R) substitution at a highly conserved residue in the central domain (DUF3591) that encompasses a HAT domain that interacts with TAF7 (600573). Although in vitro functional studies were not performed, the C807R mutation was predicted to destabilize this region and interfere with the interaction between TAF1 and TAF7. The mutation was not found in the dbSNP (build 137), 1000 Genomes Project, Exome Variant Server, or ExAC databases. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
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<strong>.0004 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33</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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TAF1, ARG1246TRP
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<br />
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SNP: rs864321629,
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ClinVar: RCV000203515, RCV001200506, RCV001849342
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In a 6-year-old boy of European descent with X-linked syndromic intellectual developmental disorder-33 (MRXS33; 300966), O'Rawe et al. (2015) identified a de novo hemizygous c.3736C-T transition (chrX.70,618,477C-T, GRCh37) in the TAF1 gene, resulting in an arg1246-to-trp (R1246W) substitution at a highly conserved residue important for binding with TAF7 (600573). Although in vitro functional studies were not performed, the R1246W mutation was predicted to interfere with the interaction between TAF1 and TAF7. The mutation was not found in the dbSNP (build 137), 1000 Genomes Project, Exome Variant Server, or ExAC databases. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0005 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33</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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TAF1, PRO596SER
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<br />
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SNP: rs864321630,
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ClinVar: RCV000203533, RCV000522374
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</span>
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</div>
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<div>
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<span class="mim-text-font">
|
|
<p>In 3 boys of Columbian descent with X-linked syndromic intellectual developmental disorder-33 (MRXS33; 300966), O'Rawe et al. (2015) identified a hemizygous c.1786C-T transition (chrX.70,602,671C-T, GRCh37) in the TAF1 gene, resulting in a pro596-to-ser (P596S) substitution at a highly conserved residue in the central domain (DUF3591) that encompasses a HAT domain that interacts with TAF7 (600573). Although in vitro functional studies were not performed, the P596S mutation was predicted to interfere with the interaction between TAF1 and TAF7. The mutation, which was inherited from the unaffected mother, was not found in the dbSNP (build 137), 1000 Genomes Project, Exome Variant Server, or ExAC databases. </p>
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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<div>
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<div>
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<h4>
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<span class="mim-font">
|
|
<strong>.0006 INTELLECTUAL DEVELOPMENTAL DISORDER, X-LINKED, SYNDROMIC 33</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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TAF1, ASP976HIS
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<br />
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SNP: rs864321631,
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ClinVar: RCV000203549, RCV001849343
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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>In a 3-year-old boy of Spanish descent with X-linked syndromic intellectual developmental disorder-33 (MRXS33; 300966), O'Rawe et al. (2015) identified identified a de novo hemizygous c.2926G-C transversion (chrX.70,612,503G-C, GRCh37) in the TAF1 gene, resulting in an asp976-to-his (D976H) substitution at a highly conserved residue in the central domain (DUF3591) that encompasses a HAT domain that interacts with TAF7 (600573). Although in vitro functional studies were not performed, the D976H mutation was predicted to interfere with the interaction between TAF1 and TAF7. The mutation was not found in the dbSNP (build 137), 1000 Genomes Project, Exome Variant Server, or ExAC databases. </p>
|
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</span>
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</div>
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<div>
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<br />
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</div>
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</div>
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</div>
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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
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</h4>
|
|
<span class="mim-text-font">
|
|
Giles and Ruddle (1979); Goto et al. (2005); Haberhausen et al.
|
|
(1995); Nemeth et al. (1999); Simchen (1978); Slater and Ozer (1976);
|
|
Waters et al. (1993)
|
|
</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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<div>
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<h4>
|
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<span class="mim-font">
|
|
<strong>REFERENCES</strong>
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</span>
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</h4>
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<div>
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<p />
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</div>
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<div>
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<ol>
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<li>
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<p class="mim-text-font">
|
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Brown, C. J., Sekiguchi, T., Nishimoto, T., Willard, H. F.
|
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<strong>Regional localization of CCG1 gene which complements hamster cell cycle mutation BN462 to Xq11-Xq13.</strong>
|
|
Somat. Cell Molec. Genet. 15: 93-96, 1989.
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[PubMed: 2916166]
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[Full Text: https://doi.org/10.1007/BF01534674]
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</p>
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</li>
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<li>
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|
<p class="mim-text-font">
|
|
Christova, R., Oelgeschlager, T.
|
|
<strong>Association of human TFIID-promoter complexes with silenced mitotic chromatin in vivo.</strong>
|
|
Nature Cell Biol. 4: 79-82, 2002.
|
|
|
|
|
|
[PubMed: 11744923]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ncb733]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Derry, J. M. J., Barnard, P. J.
|
|
<strong>Localization of the Ccg1 gene on the mouse X chromosome. (Abstract)</strong>
|
|
Cytogenet. Cell Genet. 51: 988, 1989.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Dikstein, R., Ruppert, S., Tjian, R.
|
|
<strong>TAFII250 is a bipartite protein kinase that phosphorylates the base transcription factor RAP74.</strong>
|
|
Cell 84: 781-790, 1996.
|
|
|
|
|
|
[PubMed: 8625415]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0092-8674(00)81055-7]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Flynn, E. M., Huang, O. W., Poy, F., Oppikofer, M., Bellon, S. F., Tang, Y., Cochran, A. G.
|
|
<strong>A subset of human bromodomains recognizes butyryllysine and crotonyllysine histone peptide modifications.</strong>
|
|
Structure 23: 1801-1814, 2015.
|
|
|
|
|
|
[PubMed: 26365797]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.str.2015.08.004]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Giles, R. E., Ruddle, F. H.
|
|
<strong>X-linkage of a human genetic locus that corrects the DNA synthesis lesion in tsC1AGOH mouse cells.</strong>
|
|
Genetics 93: 975-996, 1979.
|
|
|
|
|
|
[PubMed: 296762]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1093/genetics/93.4.975]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Goto, S., Lee, L. V., Munoz, E. L., Tooyama, I., Tamiya, G., Makino, S., Ando, S., Dantes, M. B., Yamada, K., Matsumoto, S., Shimazu, H., Kuratsu, J., Hirano, A., Kaji, R.
|
|
<strong>Functional anatomy of the basal ganglia in X-linked recessive dystonia-parkinsonism.</strong>
|
|
Ann. Neurol. 58: 7-17, 2005.
|
|
|
|
|
|
[PubMed: 15912496]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.20513]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Haberhausen, G., Schmitt, I., Kohler, A., Peters, U., Rider, S., Chelly, J., Terwilliger, J. D., Monaco, A. P., Muller, U.
|
|
<strong>Assignment of the dystonia-Parkinsonism syndrome locus, DYT3, to a small region within a 1.8-Mb YAC contig of Xq13.1.</strong>
|
|
Am. J. Hum. Genet. 57: 644-650, 1995.
|
|
|
|
|
|
[PubMed: 7668293]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Herzfeld, T., Nolte, D., Muller, U.
|
|
<strong>Structural and functional analysis of the human TAF1/DYT3 multiple transcript system.</strong>
|
|
Mammalian Genome 18: 787-795, 2007.
|
|
|
|
|
|
[PubMed: 17952504]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/s00335-007-9063-z]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hisatake, K., Hasegawa, S., Takada, R., Nakatani, Y., Horikoshi, M., Roeder, R. G.
|
|
<strong>The p250 subunit of native TATA box-binding factor TFIID is the cell-cycle regulatory protein CCG1.</strong>
|
|
Nature 362: 179-181, 1993.
|
|
|
|
|
|
[PubMed: 8450888]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/362179a0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jacobson, R. H., Ladurner, A. G., King, D. S., Tjian, R.
|
|
<strong>Structure and function of a human TAFII250 double bromodomain module.</strong>
|
|
Science 288: 1422-1425, 2000.
|
|
|
|
|
|
[PubMed: 10827952]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.288.5470.1422]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jha, K. K., Ozer, H. L.
|
|
<strong>Genetic studies with a mutant mouse cell, ts-2 Balb-3T3, with a temperature-sensitive defect in DNA synthesis. (Abstract)</strong>
|
|
Genetics 86: s32-s33, 1977.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Jha, K. K., Siniscalco, M., Ozer, H. L.
|
|
<strong>Temperature-sensitive mutants of Balb-3T3 cells. III. Hybrids between ts2 and other mouse mutant cells affected in DNA synthesis and correction of ts2 defect by human X chromosome.</strong>
|
|
Somat. Cell Genet. 6: 603-614, 1980.
|
|
|
|
|
|
[PubMed: 6933701]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF01538640]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lee, D. K., Horikoshi, M., Roeder, R. G.
|
|
<strong>Interaction of TFIID in the minor groove of the TATA element.</strong>
|
|
Cell 67: 1241-1250, 1991.
|
|
|
|
|
|
[PubMed: 1760848]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0092-8674(91)90300-n]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Lewis, B. A., Sims, R. J., III, Lane, W. S., Reinberg, D.
|
|
<strong>Functional characterization of core promoter elements: DPE-specific transcription requires the protein kinase CK2 and the PC4 coactivator.</strong>
|
|
Molec. Cell 18: 471-481, 2005.
|
|
|
|
|
|
[PubMed: 15893730]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.molcel.2005.04.005]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Li, A. G., Piluso, L. G., Cai, X., Gadd, B. J., Ladurner, A. G., Liu, X.
|
|
<strong>An acetylation switch in p53 mediates holo-TFIID recruitment.</strong>
|
|
Molec. Cell 28: 408-421, 2007.
|
|
|
|
|
|
[PubMed: 17996705]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.molcel.2007.09.006]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Maile, T., Kwoczynski, S., Katzenberger, R. J., Wassarman, D. A., Sauer, F.
|
|
<strong>TAF1 activates transcription by phosphorylation of serine 33 in histone H2B.</strong>
|
|
Science 304: 1010-1014, 2004. Note: Retraction: Science 344: 981 only, 2014.
|
|
|
|
|
|
[PubMed: 15143281]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.1095001]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Makino, S., Kaji, R., Ando, S., Tomizawa, M., Yasuno, K., Goto, S., Matsumoto, S., Tabuena, M. D., Maranon, E., Dantes, M., Lee, L. V., Ogasawara, K., Tooyama, I., Akatsu, H., Nishimura, M., Tamiya, G.
|
|
<strong>Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism.</strong>
|
|
Am. J. Hum. Genet. 80: 393-406, 2007.
|
|
|
|
|
|
[PubMed: 17273961]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1086/512129]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nelson, D. L., Ballabio, A., Cremers, F., Monaco, A. P., Schlessinger, D.
|
|
<strong>Report of the sixth international workshop on X chromosome mapping 1995.</strong>
|
|
Cytogenet. Cell Genet. 71: 308-342, 1995.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nemeth, A. H., Nolte, D., Dunne, E., Niemann,, S., Kostrzewa, M., Peters, U., Fraser, E., Bochukova, E., Butler, R., Brown, J., Cox, R. D., Levy, E. R., Ropers, H. H., Monaco, A. P., Muller, U.
|
|
<strong>Refined linkage disequilibrium and physical mapping of the gene locus for X-linked dystonia-parkinsonism (DYT3).</strong>
|
|
Genomics 60: 320-329, 1999.
|
|
|
|
|
|
[PubMed: 10493831]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1006/geno.1999.5929]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nishimoto, T., Sekiguchi, T., Kai, R., Yamashita, K., Takahashi, T., Sekiguchi, M.
|
|
<strong>Large-scale selection and analysis of temperature-sensitive mutants for cell reproduction from BHK cells.</strong>
|
|
Somat. Cell Genet. 8: 811-812, 1982.
|
|
|
|
|
|
[PubMed: 6891837]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF01543021]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Nolte, D., Niemann, S., Muller, U.
|
|
<strong>Specific sequence changes in multiple transcript system DYT3 are associated with X-linked dystonia parkinsonism.</strong>
|
|
Proc. Nat. Acad. Sci. 100: 10347-10352, 2003.
|
|
|
|
|
|
[PubMed: 12928496]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1073/pnas.1831949100]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
O'Brien, T., Tjian, R.
|
|
<strong>Functional analysis of the human TAFII250 N-terminal kinase domain.</strong>
|
|
Molec. Cell 1: 905-911, 1998.
|
|
|
|
|
|
[PubMed: 9660973]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s1097-2765(00)80089-1]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
O'Rawe, J. A., Wu, Y., Dorfel, M. J., Rope, A. F., Au, P. Y. B., Parboosingh, J. S., Moon, S., Kousi, M., Kosma, K., Smith, C. S., Tzetis, M., Schuette, J. L., and 36 others.
|
|
<strong>TAF1 variants are associated with dysmorphic features, intellectual disability, and neurological manifestations.</strong>
|
|
Am. J. Hum. Genet. 97: 922-932, 2015.
|
|
|
|
|
|
[PubMed: 26637982]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ajhg.2015.11.005]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Papai, G., Tripathi, M. K., Ruhlmann, C., Layer, J. H., Weil, P. A., Schultz, P.
|
|
<strong>TFIIA and the transactivator Rap1 cooperate to commit TFIID for transcription initiation.</strong>
|
|
Nature 465: 956-960, 2010.
|
|
|
|
|
|
[PubMed: 20559389]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature09080]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Patel, A. B., Louder, R. K., Greber, B. J., Grunberg, S., Luo, J., Fang, J., Liu, Y., Ranish, J., Hahn, S., Nogales, E.
|
|
<strong>Structure of human TFIID and mechanism of TBP loading onto promoter DNA.</strong>
|
|
Science 362: eaau8872, 2018. Note: Electronic Article.
|
|
|
|
|
|
[PubMed: 30442764]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.aau8872]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Pijnappel, W. W. M. P., Esch, D., Baltissen, M. P. A., Wu, G., Mischerikow, N., Bergsma, A. J., van der Wal, E., Han, D. W., vom Bruch, H., Moritz, S., Lijnzaad, P., Altelaar, A. F. M., Sameith, K., Zaehres, H., Heck, A. J. R., Holstege, F. C. P., Scholer, H. R., Timmers, H. T. M.
|
|
<strong>A central role for TFIID in the pluripotent transcription circuitry.</strong>
|
|
Nature 495: 516-519, 2013.
|
|
|
|
|
|
[PubMed: 23503660]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/nature11970]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Ruppert, S., Wang, E. H., Tjian, R.
|
|
<strong>Cloning and expression of human TAF(II)250: a TBP-associated factor implicated in cell-cycle regulation.</strong>
|
|
Nature 362: 175-179, 1993.
|
|
|
|
|
|
[PubMed: 7680771]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/362175a0]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schwartz, H. E., Holmes, S., Meiss, H. K.
|
|
<strong>Assignment of temperature-sensitive mutations of BHK cells to the X-chromosome. (Abstract)</strong>
|
|
J. Cell Biol. 75: 393A, 1977.
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Schwartz, H. E., Moser, G. C., Holmes, S., Meiss, H. K.
|
|
<strong>Assignment of temperature-sensitive mutations of BHK cells to the X-chromosome.</strong>
|
|
Somat. Cell Genet. 5: 217-224, 1979.
|
|
|
|
|
|
[PubMed: 573507]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF01539162]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sekiguchi, T., Miyata, T., Nishimoto, T.
|
|
<strong>Molecular cloning of the cDNA of human X chromosomal gene (CCG1) which complements the temperature-sensitive G(1) mutants, tsBN462 and ts13, of the BHK cell line.</strong>
|
|
EMBO J. 7: 1683-1687, 1988.
|
|
|
|
|
|
[PubMed: 3169001]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/j.1460-2075.1988.tb02996.x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sekiguchi, T., Nohiro, Y., Nakamura, Y., Hisamoto, N., Nishimoto, T.
|
|
<strong>The human CCG1 gene, essential for progression of the G1 phase, encodes a 210-kilodalton nuclear DNA-binding protein.</strong>
|
|
Molec. Cell. Biol. 11: 3317-3325, 1991.
|
|
|
|
|
|
[PubMed: 2038334]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1128/mcb.11.6.3317-3325.1991]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Sekiguchi, T., Yoshida, M. C., Sekiguchi, M., Nishimoto, T.
|
|
<strong>Isolation of a human X chromosome-linked gene essential for progression from G1 to S phase of the cell cycle.</strong>
|
|
Exp. Cell Res. 169: 395-407, 1987.
|
|
|
|
|
|
[PubMed: 3556424]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0014-4827(87)90200-x]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Simchen, G.
|
|
<strong>Cell cycle mutants.</strong>
|
|
Annu. Rev. Genet. 12: 161-191, 1978.
|
|
|
|
|
|
[PubMed: 106766]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1146/annurev.ge.12.120178.001113]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Slater, M. L., Ozer, H. L.
|
|
<strong>Temperature-sensitive mutants of Balb-3T3 cells: description of a mutant affected in cellular and polyoma virus DNA synthesis.</strong>
|
|
Cell 7: 289-295, 1976.
|
|
|
|
|
|
[PubMed: 182373]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0092-8674(76)90028-3]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Starr, D. B., Hawley, D. K.
|
|
<strong>TFIID binds in the minor groove of the TATA box.</strong>
|
|
Cell 67: 1231-1240, 1991.
|
|
|
|
|
|
[PubMed: 1760847]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0092-8674(91)90299-e]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Vermeulen, M., Mulder, K. W., Denissov, S., Pim Pijnappel, W. W. M., van Schaik, F. M. A., Varier, R. A., Baltissen, M. P. A., Stunnenberg, H. G., Mann, M., Timmers, H. T. M.
|
|
<strong>Selective anchoring of TFIID to nucleosomes by trimethylation of histone H3 lysine 4.</strong>
|
|
Cell 131: 58-69, 2007.
|
|
|
|
|
|
[PubMed: 17884155]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.cell.2007.08.016]
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|
|
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|
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Vermeulen, W., van Vuuren, A. J., Chipoulet, M., Schaeffer, L., Appeldoorn, E., Weeda, G., Jaspers, N. G. J., Priestley, A., Arlett, C. F., Lehmann, A. R., Stefanini, M., Mezzina, M., Sarasin, A., Bootsma, D., Egly, J.-M., Hoeijmakers, J. H. J.
|
|
<strong>Three unusual repair deficiencies associated with transcription factor BTF2(TFIIH): evidence for the existence of a transcription syndrome.</strong>
|
|
Cold Spring Harbor Symp. Quant. Biol. 59: 317-329, 1994.
|
|
|
|
|
|
[PubMed: 7587084]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1101/sqb.1994.059.01.036]
|
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</p>
|
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</li>
|
|
|
|
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|
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Waters, C. H., Faust, P. L., Powers, J., Vinters, H., Moskowitz, C., Nygaard, T., Hunt, A. L., Fahn, S.
|
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<strong>Neuropathology of lubag (X-linked dystonia parkinsonism).</strong>
|
|
Mov. Disord. 8: 387-390, 1993.
|
|
|
|
|
|
[PubMed: 8341310]
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[Full Text: https://doi.org/10.1002/mds.870080328]
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Yudkovsky, N., Ranish, J. A., Hahn, S.
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<strong>A transcription reinitiation intermediate that is stabilized by activator.</strong>
|
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Nature 408: 225-229, 2000.
|
|
|
|
|
|
[PubMed: 11089979]
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[Full Text: https://doi.org/10.1038/35041603]
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Bao Lige - updated : 06/10/2019<br>Ada Hamosh - updated : 01/24/2019<br>Cassandra L. Kniffin - updated : 1/8/2016<br>Ada Hamosh - updated : 9/25/2013<br>Patricia A. Hartz - updated : 8/8/2011<br>Ada Hamosh - updated : 7/1/2010<br>Paul J. Converse - updated : 5/15/2009<br>Patricia A. Hartz - updated : 1/24/2008<br>Victor A. McKusick - updated : 2/8/2007<br>Patricia A. Hartz - updated : 6/24/2005<br>Ada Hamosh - updated : 6/9/2004<br>George E. Tiller - updated : 5/16/2003<br>Patricia A. Hartz - updated : 3/11/2003<br>Ada Hamosh - updated : 11/8/2000<br>Ada Hamosh - updated : 5/24/2000<br>Stylianos E. Antonarakis - updated : 1/31/1999<br>Victor A. McKusick - updated : 6/17/1997<br>Alan F. Scott - updated : 8/2/1995
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Victor A. McKusick : 6/4/1986
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