Combined occurrence of a novel TOR1A and a THAP1 mutation in primary dystonia

Movement Disorders

Volumn 29, Issue 8, 2014, Pages 1079-1083

  Cheng, Fu Bo ^a,b   Feng, Jia Chun ^b   Ma, Ling Yan ^c   Miao, Jing ^b   Ott, Thomas ^a   Wan, Xin Hua ^c   Grundmann, Kathrin ^a  

^a UNIVERSITY OF TÜBINGEN   (Germany)

^b THE FIRST HOSPITAL OF JILIN UNIVERSITY   (China)

^c PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

Author keywords

Dual luciferase assay; DYT1 TOR1A mutation; DYT6 THAP1 mutation; Primary dystonia; Subcellular distribution

Indexed keywords

ADULT; ARTICLE; ASYMPTOMATIC DISEASE; CELL NUCLEUS MEMBRANE; CELLULAR DISTRIBUTION; CHINESE; CONTROLLED STUDY; DIMERIZATION; DYSPHONIA; DYSTONIA; ENDOPLASMIC RETICULUM; GENE; GENE FUNCTION; GENE MUTATION; GENE OVEREXPRESSION; GENETIC VARIABILITY; HAND TREMOR; HUMAN; IMMUNOFLUORESCENCE MICROSCOPY; LUCIFERASE ASSAY; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; MUTATION RATE; PRIMARY DYSTONIA; PRIORITY JOURNAL; PROMOTER REGION; SEGMENTAL DYSTONIA; SEGREGATION ANALYSIS; THAP1 GENE; TOR1A GENE; TORTICOLLIS; WILD TYPE; ASIAN CONTINENTAL ANCESTRY GROUP; COHORT ANALYSIS; DYSTONIC DISORDER; FEMALE; GENETIC PREDISPOSITION; GENETIC TRANSFECTION; GENETICS; GENOTYPE; HEK293 CELL LINE; METABOLISM; MUTATION; NEUROBLASTOMA; NUCLEOTIDE SEQUENCE; PATHOLOGY; TUMOR CELL LINE;

APOPTOSIS REGULATORY PROTEIN; ASPARTIC ACID; CHAPERONE; DNA BINDING PROTEIN; NUCLEAR PROTEIN; THAP1 PROTEIN, HUMAN; TOR1A PROTEIN, HUMAN; VALINE;

ADULT; APOPTOSIS REGULATORY PROTEINS; ASIAN CONTINENTAL ANCESTRY GROUP; ASPARTIC ACID; CELL LINE, TUMOR; COHORT STUDIES; DNA MUTATIONAL ANALYSIS; DNA-BINDING PROTEINS; DYSTONIC DISORDERS; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HEK293 CELLS; HUMANS; MALE; MOLECULAR CHAPERONES; MUTATION; NEUROBLASTOMA; NUCLEAR PROTEINS; TRANSFECTION; VALINE;

EID: 84904403209     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.25921     Document Type: Article

References (23)

1. Fahn S, Marsden CD, Calne B. Classification and investigation of dystonia. In: Marsden CD, Fahn S, eds. Movement Disorders 2. Butterworth, London, 1987:332-358.
2. Fuchs T, Ozelius LJ. Genetics in dystonia: an update. Curr Neurol Neurosci Rep 2013;13:410.
3. Ozelius LJ, Hewett JW, Page CE, et al. The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein. Nat Genet 1997;17:40-48.
4. Fuchs T, Gavarini S, Saunders-Pullman R, Raymond D, Ehrlich ME, Bressman S. Muntaions in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet 2009;41:286-288.
5. Xiao J, Uitti RJ, Zhao Y, et al. Mutations in CIZ1 cause adult onset primary cervical dystonia. Ann Neurol 2012;71:458-469.
6. Charlesworth G, Plagnol V, Holmström KM, et al. Mutations in ANO3 cause dominant craniocervical dystonia: ion channel implicated in pathogenesis. Am J Hum Genet 2012;91:1041-1050.
7. Fuchs T, Saunders-Pullman R, Masuho I, et al. Mutations in GNAL cause primary torsion dystonia. Nat Genet 2013;45:88-92.
8. Leung JC, Klein C, Friedman J, et al. Novel mutation in the TOR1A (DYT1) gene in atypical early onset dystonia and polymorphisms in dystonia and early onset parkinsonism. Neurogenetics 2001;3:133-143.
9. Zirn B, Grundmann K, Huppke P, Puthenparampil J, Wolburg H, Riess O, Müller U. Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1). J Neurol Neurosurg Psychiatry 2008;79:1327-1330.
10. Calakos N, Patel VD, Gottron M, et al. Functional evidence implicating a novel TOR1A mutation in idiopathic, late-onset focal dystonia. J Med Genet 2010;47:646-650.
11. Cheng FB, Wan XH, Feng JC, et al. Subcellular distribution of THAP1 and alterations in the microstructure of brain white matter in DYT6 dystonia. Parkinsonism Relat Disord 2012;18:978-982.
12. Cheng FB, Ozelius LJ, Wan XH, Feng JC, Ma LY, Yang YM, Wang L. THAP1/DYT6 sequence variants in non-DYT1 early-onset primary dystonia in China and their effects on RNA expression. J Neurol 2012;259:342-347.
13. Kock N, Naismith TV, Boston HE, Ozelius LJ, Corey DP, Breakefield XO, Hanson PI. Effects of genetic variations in the dystonia protein torsinA: identification of polymorphism at residue 216 as protein modifier. Hum Mol Genet 2006;15:1355-1364.
14. Sengel C, Gavarini S, Sharma N, Ozelius LJ, Bragg DC. Dimerization of the DYT6 dystonia protein, THAP1, requires residues within the coiled-coil domain. J Neurochem 2011;118:1087-1100.
15. Goodchild RE, Dauer WT. Mislocalization to the nuclear envelope: an effect of the dystonia-causing torsinA mutation. Proc Natl Acad Sci USA 2004;101:847-852.
16. Gavarini S, Cayrol C, Fuchs T, Lyons N, Ehrlich ME, Girard JP, Ozelius LJ. Direct interaction between causative genes of DYT1 and DYT6 primary dystonia. Ann Neurol 2010;68:549-553.
17. Cheng FB, Wan XH, Feng JC, Wang L, Yang YM, Cui LY. Clinical and genetic evaluation of DYT1 and DYT6 primary dystonia in China. Eur J Neurol 2011;18:497-503.
18. LeDoux MS, Xiao J, Rudzińska M, et al. Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases. Parkinsonism Relat Disord 2012;18:414-425.
19. Campagne S1, Saurel O, Gervais V, Milon A. Structural determinants of specific DNA-recognition by the THAP zinc finger. Nucleic Acids Res 2010;38:3466-3476.
20. Kaiser FJ, Osmanoric A, Rakovic A, et al. The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6). Ann Neurol 2010;68:554-559.
21. Klein C, Liu L, Doheny D, et al. Epsilon-sarcoglycan mutations found in combination with other dystonia gene mutations. Ann Neurol 2002;52:675-679.
22. Esapa CT, Waite A, Locke M, et al. SGCE missense mutations that cause myoclonus-dystonia syndrome impair epsilon-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA. Hum Mol Genet 2007;16:327-342.
23. Yokoi F, Yang G, Li J, DeAndrade MP, Zhou T, Li Y. Earlier onset of motor deficits in mice with double mutations in Dyt1 and Sgce. J Biochem 2010;148:459-466.