The dystonia gene  DYT1  is repressed by the transcription factor THAP1 (DYT6) | Zendy

Kaiser Frank J. | Zendy; Osmanoric Alma | Zendy; Rakovic Aleksandar | Zendy; Erogullari Alev | Zendy; Uflacker Nils | Zendy; Braunholz Diana | Zendy; Lohnau Thora | Zendy; Orolicki Slobodanka | Zendy; Albrecht Melanie | Zendy; GillessenKaesbach Gabriele | Zendy; Klein Christine | Zendy; Lohmann Katja | Zendy

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The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6)

Author(s) -

Kaiser Frank J.,

Osmanoric Alma,

Rakovic Aleksandar,

Erogullari Alev,

Uflacker Nils,

Braunholz Diana,

Lohnau Thora,

Orolicki Slobodanka,

Albrecht Melanie,

GillessenKaesbach Gabriele,

Klein Christine,

Lohmann Katja

Publication year - 2010

Publication title -

annals of neurology

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 4.764

H-Index - 296

eISSN - 1531-8249

pISSN - 0364-5134

DOI - 10.1002/ana.22157

Subject(s) - transcription factor , psychological repression , dystonia , gene , mutant , transcription (linguistics) , biology , genetics , mutation , gene expression , neuroscience , linguistics , philosophy

Mutations in THAP1 have been associated with dystonia 6. THAP1 encodes a transcription factor with mostly unknown targets. We tested the hypothesis that THAP1 regulates the expression of DYT1 (TOR1A) , another dystonia‐causing gene. After characterization of the TOR1A promoter, we demonstrate that THAP1 binds to the core promoter of TOR1A . Further, we report that wild type THAP1 represses the expression of TOR1A, whereas dystonia 6‐associated mutant THAP1 results in decreased repression of TOR1A . Our data demonstrate that THAP1 regulates the transcription of TOR1A, suggesting transcriptional dysregulation as a cause of dystonia. Ann Neurol 2010;68:554–559

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