{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T11:46:51Z","timestamp":1791028011942,"version":"4.1.0"},"reference-count":44,"publisher":"Cold Spring Harbor Laboratory","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genome Res."],"published-print":{"date-parts":[[1997,5,1]]},"abstract":"<jats:p>The <jats:italic>DYT1<\/jats:italic> gene, which maps to chromosome 9q34, appears to be responsible for most cases of early-onset torsion dystonia in both Ashkenazic Jewish (AJ) and non-Jewish families. This disease is inherited in an autosomal dominant mode with reduced penetrance (30%\u201340%). The abnormal involuntary movements associated with this disease are believed to be caused by unbalanced neural transmission in the basal ganglia. Previous linkage disequilibrium studies in the AJ population placed the <jats:italic>DYT1<\/jats:italic> gene in a 2-cM region between the loci <jats:italic>D9S62a<\/jats:italic> and <jats:italic>ASS<\/jats:italic>. A YAC contig has now been created spanning 600 kb of this region including <jats:italic>D9S62a<\/jats:italic>. The location of the <jats:italic>DYT1<\/jats:italic> gene has been refined within this contig using several new polymorphic loci to expand the linkage disequilibrium analysis of the AJ founder mutation. The most likely location of the<jats:italic>DYT1<\/jats:italic> gene is within a 150 kb region between the loci<jats:italic>D9S2161<\/jats:italic> and <jats:italic>D9S63<\/jats:italic>.<\/jats:p>","DOI":"10.1101\/gr.7.5.483","type":"journal-article","created":{"date-parts":[[2017,5,3]],"date-time":"2017-05-03T00:25:38Z","timestamp":1493771138000},"page":"483-494","source":"Crossref","is-referenced-by-count":53,"title":["Fine Localization of the Torsion Dystonia Gene (<i>DYT1<\/i>) on Human Chromosome 9q34: YAC Map and Linkage\u2009Disequilibrium"],"prefix":"10.1101","volume":"7","author":[{"given":"Laurie J.","family":"Ozelius","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeffrey","family":"Hewett","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patricia","family":"Kramer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Susan B.","family":"Bressman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christo","family":"Shalish","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deborah","family":"de Leon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Rutter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neil","family":"Risch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mitchell F.","family":"Brin","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena D.","family":"Markova","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Svetlana A.","family":"Limborska","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irina A.","family":"Ivanova-Smolenskaya","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mary Kay","family":"McCormick","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stanley","family":"Fahn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alan J.","family":"Buckler","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"James F.","family":"Gusella","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Xandra O.","family":"Breakefield","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"246","published-online":{"date-parts":[[1997,5,1]]},"reference":[{"key":"2021111810264698000_7.5.483.1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.87.11.4256"},{"key":"2021111810264698000_7.5.483.2","doi-asserted-by":"crossref","first-page":"856","DOI":"10.1007\/BF02619631","article-title":"Use of cyclosporin A in establishing Epstein-Barr virus-transformed human lymphoblastoid cell lines.","volume":"29","author":"Anderson","year":"1984","journal-title":"In Vitro"},{"key":"2021111810264698000_7.5.483.3","doi-asserted-by":"crossref","first-page":"356","DOI":"10.1111\/j.1399-0039.1981.tb01404.x","article-title":"Measuring the strength of associations between HLA antigens and diseases.","volume":"18","author":"Bengtsson","year":"1981","journal-title":"Tissue Antigens"},{"key":"2021111810264698000_7.5.483.4","doi-asserted-by":"crossref","first-page":"159","DOI":"10.3109\/01677068609106846","article-title":"Linkage analysis in a family with dominantly-inherited torsion dystonia: Exclusion of the pro-opiomelanocortin and glutamic acid decarboxylase genes and other chromsomal regions using DNA polymorphisms.","volume":"3","author":"Breakefield","year":"1986","journal-title":"J. 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