THAP1, the gene mutated in DYT6 dystonia, autoregulates its own expression

Biochimica et Biophysica Acta - Gene Regulatory Mechanisms

Volumn 1839, Issue 11, 2014, Pages 1196-1204

  Erogullari, Alev ^a   Hollstein, Ronja ^a   Seibler, Philip ^a   Braunholz, Diana ^a   Koschmidder, Eva ^a   Depping, Reinhard ^a   Eckhold, Juliane ^a   Lohnau, Thora ^a   Gillessen Kaesbach, Gabriele ^a   Grünewald, Anne ^a   Rakovic, Aleksandar ^a   Lohmann, Katja ^a   Kaiser, Frank J ^a  

^a UNIVERSITY OF LÜBECK   (Germany)

Author keywords

Compensation; Dystonia; Expression; Feed back loop; Regulation; Transcription

Indexed keywords

PROTEASOME; APOPTOSIS REGULATORY PROTEIN; DNA BINDING PROTEIN; NUCLEAR PROTEIN; THAP1 PROTEIN, HUMAN;

ARTICLE; AUTOREGULATION; DYSTONIA; DYT6 GENE; FEEDBACK SYSTEM; GENE; GENE EXPRESSION REGULATION; GENE MUTATION; GENE OVEREXPRESSION; HUMAN; HUMAN CELL; NERVE CELL; PLURIPOTENT STEM CELL; PROMOTER REGION; THAP1 GENE; TOR1A GENE; CELL CULTURE; GENETICS; HEK293 CELL LINE; HELA CELL LINE; HOMEOSTASIS; MOLECULAR GENETICS; MUTATION; NUCLEOTIDE SEQUENCE; PHYSIOLOGY;

APOPTOSIS REGULATORY PROTEINS; BASE SEQUENCE; CELLS, CULTURED; DNA-BINDING PROTEINS; DYSTONIA; FEEDBACK, PHYSIOLOGICAL; GENE EXPRESSION REGULATION; HEK293 CELLS; HELA CELLS; HOMEOSTASIS; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS;

EID: 84907484334     PISSN: 18749399     EISSN: 18764320     Source Type: Journal    
DOI: 10.1016/j.bbagrm.2014.07.019     Document Type: Article

References (23)

1. LeDoux M.S., Xiao J., Rudzinska M., Bastian R.W., Wszolek Z.K., Van Gerpen J.A., Puschmann A., Momcilovic D., Vemula S.R., Zhao Y. Genotype-phenotype correlations in THAP1 dystonia: molecular foundations and description of new cases. Parkinsonism Relat. Disord. 2012, 18:414-425.
2. Blanchard A., Ea V., Roubertie A., Martin M., Coquart C., Claustres M., Beroud C., Collod-Beroud G. DYT6 dystonia: review of the literature and creation of the UMD Locus-Specific Database (LSDB) for mutations in the THAP1 gene. Hum. Mutat. 2011, 32:1213-1224.
3. Fuchs T., Gavarini S., Saunders-Pullman R., Raymond D., Ehrlich M.E., Bressman S.B., Ozelius L.J. Mutations in the THAP1 gene are responsible for DYT6 primary torsion dystonia. Nat. Genet. 2009, 41:286-288.
4. Albanese A., Bhatia K., Bressman S.B., Delong M.R., Fahn S., Fung V.S., Hallett M., Jankovic J., Jinnah H.A., Klein C., Lang A.E., Mink J.W., Teller J.K. Phenomenology and classification of dystonia: a consensus update. Mov. Disord. 2013, 28:863-873.
5. Campagne S., Saurel O., Gervais V., Milon A. Structural determinants of specific DNA-recognition by the THAP zinc finger. Nucleic Acids Res. 2010, 38:3466-3476.
6. Mazars R., Gonzalez-de-Peredo A., Cayrol C., Lavigne A.C., Vogel J.L., Ortega N., Lacroix C., Gautier V., Huet G., Ray A., Monsarrat B., Kristie T.M., Girard J.P. 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, 285:13364-13371.
7. Clouaire T., Roussigne M., Ecochard V., Mathe C., Amalric F., Girard J.P. 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, 102:6907-6912.
8. Sabogal A., Lyubimov A.Y., Corn J.E., Berger J.M., Rio D.C. THAP proteins target specific DNA sites through bipartite recognition of adjacent major and minor grooves. Nat. Struct. Mol. Biol. 2010, 17:117-123.
9. 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, 40:9927-9940.
10. Gavarini S., Cayrol C., Fuchs T., Lyons N., Ehrlich M.E., Girard J.P., Ozelius L.J. Direct interaction between causative genes of DYT1 and DYT6 primary dystonia. Ann. Neurol. 2010, 68:549-553.
11. Kaiser F.J., 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. Ann. Neurol. 2010, 68:554-559.
12. Djarmati A., Schneider S.A., Lohmann K., Winkler S., Pawlack H., Hagenah J., Bruggemann N., Zittel S., Fuchs T., Rakovic A., Schmidt A., Jabusch H.C., Wilcox R., Kostic V.S., Siebner H., Altenmuller E., Munchau A., Ozelius L.J., Klein C. Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study. Lancet Neurol. 2009, 8:447-452.
13. Lohmann K., Uflacker N., Erogullari A., Lohnau T., Winkler S., Dendorfer A., Schneider S.A., Osmanovic A., Svetel M., Ferbert A., Zittel S., Kuhn A.A., Schmidt A., Altenmuller E., Munchau A., Kamm C., Wittstock M., Kupsch A., Moro E., Volkmann J., Kostic V., Kaiser F.J., Klein C., Bruggemann N. Identification and functional analysis of novel THAP1 mutations. Eur. J. Hum. Genet. 2012, 20:171-175.
14. Seibler P., Graziotto J., Jeong H., Simunovic F., Klein C., Krainc D. Mitochondrial Parkin recruitment is impaired in neurons derived from mutant PINK1 induced pluripotent stem cells. J. Neurosci. 2011, 31:5970-5976.
15. Tiscornia G., Singer O., Verma I.M. Production and purification of lentiviral vectors. Nat. Protoc. 2006, 1:241-245.
16. Chambers S.M., Fasano C.A., Papapetrou E.P., Tomishima M., Sadelain M., Studer L. Highly efficient neural conversion of human ES and iPS cells by dual inhibition of SMAD signaling. Nat. Biotechnol. 2009, 27:275-280.
17. Perrier A.L., Tabar V., Barberi T., Rubio M.E., Bruses J., Topf N., Harrison N.L., Studer L. Derivation of midbrain dopamine neurons from human embryonic stem cells. Proc. Natl. Acad. Sci. U. S. A. 2004, 101:12543-12548.
18. Nguyen H.N., Byers B., Cord B., Shcheglovitov A., Byrne J., Gujar P., Kee K., Schule B., Dolmetsch R.E., Langston W., Palmer T.D., Pera R.R. LRRK2 mutant iPSC-derived DA neurons demonstrate increased susceptibility to oxidative stress. Cell Stem Cell 2011, 8:267-280.
19. 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 F.J. Truncating mutations in THAP1 define the nuclear localization signal. Mov. Disord. 2011, 26:1565-1567.
20. Neph S., Vierstra J., Stergachis A.B., Reynolds A.P., Haugen E., Vernot B., Thurman R.E., John S., Sandstrom R., Johnson A.K., Maurano M.T., Humbert R., Rynes E., Wang H., Vong S., Lee K., Bates D., Diegel M., Roach V., Dunn D., Neri J., Schafer A., Hansen R.S., Kutyavin T., Giste E., Weaver M., Canfield T., Sabo P., Zhang M., Balasundaram G., Byron R., MacCoss M.J., Akey J.M., Bender M.A., Groudine M., Kaul R., Stamatoyannopoulos J.A. An expansive human regulatory lexicon encoded in transcription factor footprints. Nature 2012, 489:83-90.
21. Cayrol C., Lacroix C., Mathe C., Ecochard V., Ceribelli M., Loreau E., Lazar V., Dessen P., Mantovani R., Aguilar L., Girard J.P. The THAP-zinc finger protein THAP1 regulates endothelial cell proliferation through modulation of pRB/E2F cell-cycle target genes. Blood 2007, 109:584-594.
22. Bateman E. Autoregulation of eukaryotic transcription factors. Prog. Nucleic Acid Res. Mol. Biol. 1998, 60:133-168.
23. Arron J.R., Winslow M.M., Polleri A., Chang C.P., Wu H., Gao X., Neilson J.R., Chen L., Heit J.J., Kim S.K., Yamasaki N., Miyakawa T., Francke U., Graef I.A., Crabtree G.R. NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21. Nature 2006, 441:595-600.