Literature DB >> 19182804

Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia.

Tania Fuchs1, Sophie Gavarini, Rachel Saunders-Pullman, Deborah Raymond, Michelle E Ehrlich, Susan B Bressman, Laurie J Ozelius.   

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.

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Year:  2009        PMID： 19182804     DOI： 10.1038/ng.304

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  12 in total

1.  The THAP domain: a novel protein motif with similarity to the DNA-binding domain of P element transposase.

Authors:  Myriam Roussigne; Sophia Kossida; Anne-Claire Lavigne; Thomas Clouaire; Vincent Ecochard; Alexandra Glories; François Amalric; Jean-Philippe Girard
Journal:  Trends Biochem Sci       Date:  2003-02       Impact factor: 13.807

2.  The THAP-zinc finger protein THAP1 regulates endothelial cell proliferation through modulation of pRB/E2F cell-cycle target genes.

Authors:  Corinne Cayrol; Chrystelle Lacroix; Catherine Mathe; Vincent Ecochard; Michele Ceribelli; Emilie Loreau; Vladimir Lazar; Philippe Dessen; Roberto Mantovani; Luc Aguilar; Jean-Philippe Girard
Journal:  Blood       Date:  2006-09-26       Impact factor: 22.113

3.  The THAP domain of THAP1 is a large C2CH module with zinc-dependent sequence-specific DNA-binding activity.

Authors:  Thomas Clouaire; Myriam Roussigne; Vincent Ecochard; Catherine Mathe; François Amalric; Jean-Philippe Girard
Journal:  Proc Natl Acad Sci U S A       Date:  2005-04-29       Impact factor: 11.205

4.  Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families.

Authors:  L Almasy; S B Bressman; D Raymond; P L Kramer; P E Greene; G A Heiman; B Ford; J Yount; D de Leon; S Chouinard; R Saunders-Pullman; M F Brin; R P Kapoor; A C Jones; H Shen; S Fahn; N J Risch; T G Nygaard
Journal:  Ann Neurol       Date:  1997-10       Impact factor: 10.422

5.  The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.

Authors:  L J Ozelius; J W Hewett; C E Page; S B Bressman; P L Kramer; C Shalish; D de Leon; M F Brin; D Raymond; D P Corey; S Fahn; N J Risch; A J Buckler; J F Gusella; X O Breakefield
Journal:  Nat Genet       Date:  1997-09       Impact factor: 38.330

6.  THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies.

Authors:  Myriam Roussigne; Corinne Cayrol; Thomas Clouaire; François Amalric; Jean-Philippe Girard
Journal:  Oncogene       Date:  2003-04-24       Impact factor: 9.867

7.  Participation of prostate apoptosis response-4 in degeneration of dopaminergic neurons in models of Parkinson's disease.

Authors:  W Duan; Z Zhang; D M Gash; M P Mattson
Journal:  Ann Neurol       Date:  1999-10       Impact factor: 10.422

Review 8.  Classification and genetics of dystonia.

Authors:  Patricia M de Carvalho Aguiar; Laurie J Ozelius
Journal:  Lancet Neurol       Date:  2002-09       Impact factor: 44.182

9.  Structure-function analysis of the THAP zinc finger of THAP1, a large C2CH DNA-binding module linked to Rb/E2F pathways.

Authors:  Damien Bessière; Chrystelle Lacroix; Sébastien Campagne; Vincent Ecochard; Valérie Guillet; Lionel Mourey; Frédéric Lopez; Jerzy Czaplicki; Pascal Demange; Alain Milon; Jean-Philippe Girard; Virginie Gervais
Journal:  J Biol Chem       Date:  2007-12-11       Impact factor: 5.157

10.  The DYT1 gene on 9q34 is responsible for most cases of early limb-onset idiopathic torsion dystonia in non-Jews.

Authors:  P L Kramer; G A Heiman; T Gasser; L J Ozelius; D de Leon; M F Brin; R E Burke; J Hewett; A L Hunt; C Moskowitz
Journal:  Am J Hum Genet       Date:  1994-09       Impact factor: 11.025
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  126 in total

Review 1.  Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases.

Authors:  Mark S LeDoux; Jianfeng Xiao; Monika Rudzińska; Robert W Bastian; Zbigniew K Wszolek; Jay A Van Gerpen; Andreas Puschmann; Dragana Momčilović; Satya R Vemula; Yu Zhao
Journal:  Parkinsonism Relat Disord       Date:  2012-02-28       Impact factor: 4.891

2.  Screening of the THAP1 gene in patients with early-onset dystonia: myoclonic jerks are part of the dystonia 6 phenotype.

Authors:  Fabienne Clot; David Grabli; Pierre Burbaud; Magali Aya; Pascal Derkinderen; Luc Defebvre; Philippe Damier; Pierre Krystkowiak; Pierre Pollak; Eric Leguern; Chan San; Agnès Camuzat; Emmanuel Roze; Marie Vidailhet; Alexandra Durr; Alexis Brice
Journal:  Neurogenetics       Date:  2010-11-26       Impact factor: 2.660

Review 3.  Genetic and clinical features of primary torsion dystonia.

Authors:  Laurie J Ozelius; Susan B Bressman
Journal:  Neurobiol Dis       Date:  2010-12-17       Impact factor: 5.996

4.  The visual perception of natural motion: abnormal task-related neural activity in DYT1 dystonia.

Authors:  Wataru Sako; Koji Fujita; An Vo; Janet C Rucker; John-Ross Rizzo; Martin Niethammer; Maren Carbon; Susan B Bressman; Aziz M Uluğ; David Eidelberg
Journal:  Brain       Date:  2015-09-29       Impact factor: 13.501

5.  Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing SLC20A2 and THAP1.

Authors:  Weiyi Mu; Laura Tochen; Caroline Bertsch; Harvey S Singer; Kristin W Barañano
Journal:  BMJ Case Rep       Date:  2019-05-27

Review 6.  Inherited isolated dystonia: clinical genetics and gene function.

Authors:  William Dauer
Journal:  Neurotherapeutics       Date:  2014-10       Impact factor: 7.620

Review 7.  Using the shared genetics of dystonia and ataxia to unravel their pathogenesis.

Authors:  Esther A R Nibbeling; Cathérine C S Delnooz; Tom J de Koning; Richard J Sinke; Hyder A Jinnah; Marina A J Tijssen; Dineke S Verbeek
Journal:  Neurosci Biobehav Rev       Date:  2017-01-28       Impact factor: 8.989

8.  Dimerization of the DYT6 dystonia protein, THAP1, requires residues within the coiled-coil domain.

Authors:  Cem Sengel; Sophie Gavarini; Nutan Sharma; Laurie J Ozelius; D Cristopher Bragg
Journal:  J Neurochem       Date:  2011-08-08       Impact factor: 5.372

9.  Novel THAP1 sequence variants in primary dystonia.

Authors:  J Xiao; Y Zhao; R W Bastian; J S Perlmutter; B A Racette; S D Tabbal; M Karimi; R C Paniello; Z K Wszolek; R J Uitti; J A Van Gerpen; D K Simon; D Tarsy; P Hedera; D D Truong; K P Frei; S Dev Batish; A Blitzer; R F Pfeiffer; S Gong; M S LeDoux
Journal:  Neurology       Date:  2010-01-19       Impact factor: 9.910

Review 10.  What's new in dystonia?

Authors:  Vicki Shanker; Susan B Bressman
Journal:  Curr Neurol Neurosci Rep       Date:  2009-07       Impact factor: 5.081
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