Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia
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- 1 February 2009
- journal article
- case report
- Published by Springer Nature in Nature Genetics
- Vol. 41 (3) , 286-288
- https://doi.org/10.1038/ng.304
Abstract
We report the discovery of a mutation in the THAP1 gene in three Amish-Mennonite families with mixed-onset primary torsion dystonia (also known as DYT6 dystonia). Another mutation in a German family with primary torsion dystonia suggests that THAP1 mutations also cause dystonia in other ancestry groups. We demonstrate that the missense mutation impairs DNA binding, suggesting that transcriptional dysregulation may contribute to the phenotype of DYT6 dystonia.Keywords
This publication has 14 references indexed in Scilit:
- Structure-Function Analysis of the THAP Zinc Finger of THAP1, a Large C2CH DNA-binding Module Linked to Rb/E2F PathwaysJournal of Biological Chemistry, 2008
- Narrowing the DYT6 dystonia region and evidence for locus heterogeneity in the Amish–MennonitesAmerican Journal of Medical Genetics Part A, 2007
- The THAP–zinc finger protein THAP1 regulates endothelial cell proliferation through modulation of pRB/E2F cell-cycle target genesBlood, 2006
- The THAP domain of THAP1 is a large C2CH module with zinc-dependent sequence-specific DNA-binding activityProceedings of the National Academy of Sciences, 2005
- THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodiesOncogene, 2003
- The THAP domain: a novel protein motif with similarity to the DNA-binding domain of P element transposaseTrends in Biochemical Sciences, 2003
- Classification and genetics of dystoniaThe Lancet Neurology, 2002
- Participation of prostate apoptosis response-4 in degeneration of dopaminergic neurons in models of Parkinson's disease.1999
- Idiopathic torsion dystonia linked to chromosome 8 in two mennonite familiesAnnals of Neurology, 1997
- The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding proteinNature Genetics, 1997