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Stein Family Fund"},{"name":"Missouri Chapter of the Dystonia Research Foundation"},{"name":"Murphy Fund"},{"name":"Morris K. Udall Center of Excellence for Parkinson Disease Research","award":["P50-NS072187"],"award-info":[{"award-number":["P50-NS072187"]}]},{"name":"Mayo Clinic Center for Regenerative Medicine"},{"name":"Long Beach Memorial Foundation"},{"name":"Orange Coast Memorial Foundation"},{"name":"Parkinson's & Movement Disorder Foundation"},{"name":"NIH Office of Rare Diseases Research and the National Institute of Neurological Disorders and Stroke","award":["NS067501"],"award-info":[{"award-number":["NS067501"]}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Molec Gen &amp;amp; Gen Med"],"published-print":{"date-parts":[[2014,5]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Although coding variants in <jats:italic><jats:styled-content style=\"fixed-case\">THAP<\/jats:styled-content>1<\/jats:italic> have been causally associated with primary dystonia, the contribution of noncoding variants remains uncertain. Herein, we examine a previously identified Intron 1 variant (c.71+9C&gt;A, rs200209986). Among 1672 subjects with mainly adult\u2010onset primary dystonia, 12 harbored the variant in contrast to 1\/1574 controls (<jats:italic>P\u00a0<\/jats:italic>&lt;<jats:italic>\u00a0<\/jats:italic>0.01). Dystonia classification included cervical dystonia (<jats:italic>N<\/jats:italic>\u00a0=\u00a03), laryngeal dystonia (adductor subtype, <jats:italic>N<\/jats:italic>\u00a0=\u00a03), jaw\u2010opening oromandibular dystonia (<jats:italic>N<\/jats:italic>\u00a0=\u00a01), blepharospasm (<jats:italic>N<\/jats:italic>\u00a0=\u00a02), and unclassified (<jats:italic>N<\/jats:italic>\u00a0=\u00a03). Age of dystonia onset ranged from 25 to 69\u00a0years (mean\u00a0=\u00a054\u00a0years). In comparison to controls with no identified <jats:italic><jats:styled-content style=\"fixed-case\">THAP<\/jats:styled-content>1<\/jats:italic> sequence variants, the c.71+9C&gt;A variant was associated with an elevated ratio of Isoform 1 (NM_018105) to Isoform 2 (NM_199003) in leukocytes. In silico and minigene analyses indicated that c.71+9C&gt;A alters <jats:italic><jats:styled-content style=\"fixed-case\">THAP<\/jats:styled-content>1<\/jats:italic> splicing. Lymphoblastoid cells harboring the c.71+9C&gt;A variant showed extensive apoptosis with relatively fewer cells in the G2 phase of the cell cycle. Differentially expressed genes from lymphoblastoid cells revealed that the c.71+9C&gt;A variant exerts effects on <jats:styled-content style=\"fixed-case\">DNA<\/jats:styled-content> synthesis, cell growth and proliferation, cell survival, and cytotoxicity. In aggregate, these data indicate that <jats:italic><jats:styled-content style=\"fixed-case\">THAP<\/jats:styled-content>1<\/jats:italic> c.71+9C&gt;A is a risk factor for adult\u2010onset primary dystonia.<\/jats:p>","DOI":"10.1002\/mgg3.67","type":"journal-article","created":{"date-parts":[[2014,2,12]],"date-time":"2014-02-12T11:18:30Z","timestamp":1392203910000},"page":"261-272","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":22,"title":["A rare sequence variant in intron 1 of <i><scp>THAP<\/scp>1<\/i> is associated with primary dystonia"],"prefix":"10.1002","volume":"2","author":[{"given":"Satya R.","family":"Vemula","sequence":"first","affiliation":[{"name":"Departments of Neurology and Anatomy &amp; Neurobiology University of Tennessee Health Science Center Memphis Tennessee 38163"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianfeng","family":"Xiao","sequence":"additional","affiliation":[{"name":"Departments of Neurology and Anatomy &amp; Neurobiology University of Tennessee Health Science Center Memphis Tennessee 38163"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Zhao","sequence":"additional","affiliation":[{"name":"Departments of Neurology and Anatomy &amp; Neurobiology University of Tennessee Health Science Center Memphis Tennessee 38163"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert W.","family":"Bastian","sequence":"additional","affiliation":[{"name":"Bastian Voice Institute Downers Grove Illinois"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Joel S.","family":"Perlmutter","sequence":"additional","affiliation":[{"name":"Department of Neurology Washington University School of Medicine St. Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brad A.","family":"Racette","sequence":"additional","affiliation":[{"name":"Department of Neurology Washington University School of Medicine St. Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Randal C.","family":"Paniello","sequence":"additional","affiliation":[{"name":"Department of Otolaryngology\u2010Head and Neck Surgery Washington University School of Medicine St. Louis Missouri"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Zbigniew K.","family":"Wszolek","sequence":"additional","affiliation":[{"name":"Department of Neurology Mayo Clinic Jacksonville Florida 32224"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ryan J.","family":"Uitti","sequence":"additional","affiliation":[{"name":"Department of Neurology Mayo Clinic Jacksonville Florida 32224"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jay A.","family":"Van Gerpen","sequence":"additional","affiliation":[{"name":"Department of Neurology Mayo Clinic Jacksonville Florida 32224"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Peter","family":"Hedera","sequence":"additional","affiliation":[{"name":"Department of Neurology Vanderbilt University Nashville Tennessee"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel D.","family":"Truong","sequence":"additional","affiliation":[{"name":"Parkinson's &amp; Movement Disorder Institute Fountain Valley California 92708"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrew","family":"Blitzer","sequence":"additional","affiliation":[{"name":"New York Center for Voice and Swallowing Disorders New York New York"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Monika","family":"Rudzi\u0144ska","sequence":"additional","affiliation":[{"name":"Department of Neurology Jagiellonian University Medical College in Krakow Krak\u00f3w 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