Dystonia type 6 gene product Thap1: Identification of a 50 kDa DNA-binding species in neuronal nuclear fractions

Acta Neuropathologica Communications

Volumn 2, Issue 1, 2014, Pages

  Ortiz Virumbrales, Maitane ^a   Ruiz, Marta ^a   Hone, Eugene ^a   Dolios, Georgia ^a   Wang, Rong ^a   Morant, Andrika ^a   Kottwitz, Jessica ^a   Ozelius, Laurie J ^a   Gandy, Sam ^a   Ehrlich, Michelle E ^a  

^a MOUNT SINAI SCHOOL OF MEDICINE   (United States)

Author keywords

Cerebellum; Dystonia; DYT6; Protein; Striatum; Thap1

Indexed keywords

APOPTOSIS REGULATORY PROTEIN; CHAPERONE; DNA BINDING PROTEIN; NUCLEAR PROTEIN; RRM1 PROTEIN, HUMAN; SMALL INTERFERING RNA; THAP1 PROTEIN, HUMAN; TOR1A PROTEIN, HUMAN; TUMOR SUPPRESSOR PROTEIN;

ANIMAL; ANIMAL EMBRYO; BRAIN; CELL CULTURE; CORPUS STRIATUM; CYTOLOGY; GENE EXPRESSION REGULATION; GENETICS; HUMAN; IMMUNOPRECIPITATION; KNOCKOUT MOUSE; METABOLISM; MOLECULAR WEIGHT; MOUSE; NERVE CELL; NERVOUS TISSUE; NUCLEOLUS; PATHOLOGY; ULTRASTRUCTURE;

ANIMALS; APOPTOSIS REGULATORY PROTEINS; BRAIN; CELL NUCLEOLUS; CELLS, CULTURED; CORPUS STRIATUM; DNA-BINDING PROTEINS; EMBRYO, MAMMALIAN; GENE EXPRESSION REGULATION; HUMANS; IMMUNOPRECIPITATION; MICE; MICE, KNOCKOUT; MOLECULAR CHAPERONES; MOLECULAR WEIGHT; NERVE TISSUE; NEURONS; NUCLEAR PROTEINS; RNA, SMALL INTERFERING; TUMOR SUPPRESSOR PROTEINS;

EID: 84965087564     PISSN: None     EISSN: 20515960     Source Type: Journal    
DOI: 10.1186/s40478-014-0139-1     Document Type: Review

References (30)

1. Bressman SB, Raymond D, Fuchs T, Heiman GA, Ozelius LJ, Saunders-Pullman R: Mutations in THAP1 (DYT6) in early-onset dystonia: a genetic screening study. Lancet Neurol 2009, 8(5):441-446. doi:10.1016/S1474-4422(09)70081-X 10.1016/S1474-4422(09)70081-X
2. Djarmati A, Schneider SA, Lohmann K, Winkler S, Pawlack H, Hagenah J, Bruggemann N, Zittel S, Fuchs T, Rakovic A, Schmidt A, Jabusch HC, Wilcox R, Kostic VS, Siebner H, Altenmuller E, Munchau A, Ozelius LJ, Klein C: Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. Lancet Neurol 2009, 8(5):447-452. doi:10.1016/S1474-4422(09)70083-3 10.1016/S1474-4422(09)70083-3
3. Fuchs T, Gavarini S, Saunders-Pullman R, Raymond D, Ehrlich ME, Bressman SB, Ozelius LJ: Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat Genet 2009, 41(3):286-288. doi:10.1038/ng.304 10.1038/ng.304
4. LeDoux MS, Xiao J, Rudzinska M, Bastian RW, Wszolek ZK, Van Gerpen JA, Puschmann A, Momcilovic D, Vemula SR, Zhao Y: Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases. Parkinsonism Relat Disord 2012, 18(5):414-425. doi:10.1016/j.parkreldis.2012.02.001 10.1016/j.parkreldis.2012.02.001
5. Xiromerisiou G, Houlden H, Scarmeas N, Stamelou M, Kara E, Hardy J, Lees AJ, Korlipara P, Limousin P, Paudel R, Hadjigeorgiou GM, Bhatia KP: THAP1 mutations and dystonia phenotypes: genotype phenotype correlations. Mov Disord 2012, 27(10):1290-1294. doi: 10.1002/mds.25146 10.1002/mds.25146
6. Deiss LP, Feinstein E, Berissi H, Cohen O, Kimchi A: Identification of a novel serine/threonine kinase and a novel 15-kD protein as potential mediators of the gamma interferon-induced cell death. Genes Dev 1995, 9(1):15-30. 10.1101/gad.9.1.15
7. Gale M Jr, Blakely CM, Hopkins DA, Melville MW, Wambach M, Romano PR, Katze MG: Regulation of interferon-induced protein kinase PKR: modulation of P58IPK inhibitory function by a novel protein, P52rIPK. Mol Cell Biol 1998, 18(2):859-871.
8. Lin Y, Khokhlatchev A, Figeys D, Avruch J: Death-associated protein 4 binds MST1 and augments MST1-induced apoptosis. J Biol Chem 2002, 277(50):47991-48001. doi:10.1074/jbc.M202630200 10.1074/jbc.M202630200
9. Roussigne M, Cayrol C, Clouaire T, Amalric F, Girard JP: THAP1 is a nuclear proapoptotic factor that links prostate-apoptosis-response-4 (Par-4) to PML nuclear bodies. Oncogene 2003, 22(16):2432-2442. doi:10.1038/sj.onc.1206271 10.1038/sj.onc.1206271
10. Roussigne M, Kossida S, Lavigne AC, Clouaire T, Ecochard V, Glories A, Amalric F, Girard JP: The THAP domain: a novel protein motif with similarity to the DNA-binding domain of P element transposase. Trends Biochem Sci 2003, 28(2):66-69. doi:10.1016/S0968-0004(02)00013-0 10.1016/S0968-0004(02)00013-0
11. Clouaire T, Roussigne M, Ecochard V, Mathe C, Amalric F, Girard JP: The THAP domain of THAP1 is a large C2CH module with zinc-dependent sequence-specific DNA-binding activity. Proc Natl Acad Sci U S A 2005, 102(19):6907-6912. doi:10.1073/pnas.0406882102 10.1073/pnas.0406882102
12. Lu C, Li JY, Ge Z, Zhang L, Zhou GP: Par-4/THAP1 complex and Notch3 competitively regulated pre-mRNA splicing of CCAR1 and affected inversely the survival of T-cell acute lymphoblastic leukemia cells. Oncogene 2013, 32(50):5602-5613. doi:10.1038/onc.2013.349 10.1038/onc.2013.349
13. Ledoux MS, Dauer WT, Warner TT: Emerging common molecular pathways for primary dystonia. Mov Disord 2013, 28(7):968-981. doi:10.1002/mds.25547 10.1002/mds.25547
14. Campagne S, Muller I, Milon A, Gervais V: Towards the classification of DYT6 dystonia mutants in the DNA-binding domain of THAP1. Nucleic Acids Res 2012, 40(19):9927-9940. doi:10.1093/nar/gks703 10.1093/nar/gks703
15. 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(4):549-553. doi: 10.1002/ana.22138 10.1002/ana.22138
16. Gervais V, Campagne S, Durand J, Muller I, Milon A: NMR studies of a new family of DNA binding proteins: the THAP proteins. J Biomol NMR 2013, 56(1):3-15. doi:10.1007/s10858-012-9699-1 10.1007/s10858-012-9699-1
17. Kaiser FJ, Osmanoric A, Rakovic A, Erogullari A, Uflacker N, Braunholz D, Lohnau T, Orolicki S, Albrecht M, Gillessen-Kaesbach G, Klein C, Lohmann K: The dystonia gene DYT1 is repressed by the transcription factor THAP1 (DYT6). Ann Neurol 2010, 68(4):554-559. doi: 10.1002/ana.22157 10.1002/ana.22157
18. Cayrol C, Lacroix C, Mathe C, Ecochard V, Ceribelli M, Loreau E, Lazar V, Dessen P, Mantovani R, Aguilar L, Girard JP: The THAP-zinc finger protein THAP1 regulates endothelial cell proliferation through modulation of pRB/E2F cell-cycle target genes. Blood 2007, 109(2):584-594. doi:10.1182/blood-2006-03-012013 10.1182/blood-2006-03-012013
19. Zhao Y, Xiao J, Gong S, Clara JA, Ledoux MS: Neural expression of the transcription factor THAP1 during development in rat. Neuroscience 2013, 231: 282-295. doi: 10.1016/j.neuroscience.2012.11.049 10.1016/j.neuroscience.2012.11.049
20. Campagne S, Saurel O, Gervais V, Milon A: Structural determinants of specific DNA-recognition by the THAP zinc finger. Nucleic Acids Res 2010, 38(10):3466-3476. doi:10.1093/nar/gkq053 10.1093/nar/gkq053
21. 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(6):1087-1100. doi:10.1111/j.1471-4159.2011.07386.x 10.1111/j.1471-4159.2011.07386.x
22. Lohmann K, Uflacker N, Erogullari A, Lohnau T, Winkler S, Dendorfer A, Schneider SA, Osmanovic A, Svetel M, Ferbert A, Zittel S, Kuhn AA, Schmidt A, Altenmuller E, Munchau A, Kamm C, Wittstock M, Kupsch A, Moro E, Volkmann J, Kostic V, Kaiser FJ, Klein C, Bruggemann N: Identification and functional analysis of novel THAP1 mutations. Eur J Hum Genet 2012, 20(2):171-175. doi:10.1038/ejhg.2011.159 10.1038/ejhg.2011.159
23. Ivkovic S, Polonskaia O, Farinas I, Ehrlich ME: Brain-derived neurotrophic factor regulates maturation of the DARPP-32 phenotype in striatal medium spiny neurons: studies in vivo and in vitro. Neuroscience 1997, 79(2):509-516. 10.1016/S0306-4522(96)00684-7
24. Osmanovic A, Dendorfer A, Erogullari A, Uflacker N, Braunholz D, Rakovic A, Vierke G, Gil-Rodriguez C, Munchau A, Albrecht M, Bruggemann N, Gillessen-Kaesbach G, Klein C, Lohmann K, Kaiser FJ: Truncating mutations in THAP1 define the nuclear localization signal. Mov Disord 2011, 26(8):1565-1567. doi:10.1002/mds.23611 10.1002/mds.23611
25. Sprung R, Chen Y, Zhang K, Cheng D, Zhang T, Peng J, Zhao Y: Identification and validation of eukaryotic aspartate and glutamate methylation in proteins. J Proteome Res 2008, 7(3):1001-1006. doi:10.1021/pr0705338 10.1021/pr0705338
26. Mazars R, Gonzalez-de-Peredo A, Cayrol C, Lavigne AC, Vogel JL, Ortega N, Lacroix C, Gautier V, Huet G, Ray A, Monsarrat B, Kristie TM, Girard JP: The THAP-zinc finger protein THAP1 associates with coactivator HCF-1 and O-GlcNAc transferase: a link between DYT6 and DYT3 dystonias. J Biol Chem 2010, 285(18):13364-13371. doi:10.1074/jbc.M109.072579 10.1074/jbc.M109.072579
27. Makino S, Kaji R, Ando S, Tomizawa M, Yasuno K, Goto S, Matsumoto S, Tabuena MD, Maranon E, Dantes M, Lee LV, Ogasawara K, Tooyama I, Akatsu H, Nishimura M, Tamiya G: Reduced neuron-specific expression of the TAF1 gene is associated with X-linked dystonia-parkinsonism. Am J Hum Genet 2007, 80(3):393-406. doi:10.1086/512129 10.1086/512129
28. Sako W, Morigaki R, Kaji R, Tooyama I, Okita S, Kitazato K, Nagahiro S, Graybiel AM, Goto S: Identification and localization of a neuron-specific isoform of TAF1 in rat brain: implications for neuropathology of DYT3 dystonia. Neuroscience 2011, 189: 100-107. doi:10.1016/j.neuroscience.2011.05.031 10.1016/j.neuroscience.2011.05.031
29. Thompson VB, Jinnah HA, Hess EJ: Convergent mechanisms in etiologically-diverse dystonias. Expert Opin Ther Targets 2011, 15(12):1387-1403. doi:10.1517/14728222.2011.641533 10.1517/14728222.2011.641533
30. Vethantham V, Rao N, Manley JL: Sumoylation regulates multiple aspects of mammalian poly(A) polymerase function. Genes Dev 2008, 22(4):499-511. doi:10.1101/gad.1628208 10.1101/gad.1628208