Loss of function mechanism in aprataxin-related early-onset ataxia

Biochemical and Biophysical Research Communications

Volumn 322, Issue 2, 2004, Pages 380-386

  Hirano, Makito ^a   Furiya, Yoshiko ^a   Kariya, Shingo ^a   Nishiwaki, Tomohisa ^a   Ueno, Satoshi ^a  

^a NARA MEDICAL UNIVERSITY   (Japan)

Author keywords

Aprataxin; Ataxia; HIT; Single strand break repair

Indexed keywords

APRATAXIN; GENE PRODUCT; HISTIDINE; PROTEIN; UNCLASSIFIED DRUG; ACID ANHYDRIDE HYDROLASE; APTX PROTEIN, HUMAN; DNA BINDING PROTEIN; FRAGILE HISTIDINE TRIAD PROTEIN; MESSENGER RNA; NUCLEAR PROTEIN; TUMOR PROTEIN;

ADULT; AMINO TERMINAL SEQUENCE; ARTICLE; ATAXIA; CASE REPORT; CATALYSIS; CONTROLLED STUDY; CORRELATION ANALYSIS; ENZYME ACTIVITY; FEMALE; GENE MUTATION; HUMAN; HUMAN CELL; MALE; MOLECULAR INTERACTION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FUNCTION; GENETICS; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; METABOLISM; MOLECULAR EVOLUTION; MUTATION; ONSET AGE; SEQUENCE HOMOLOGY;

ATAXIA;

ACID ANHYDRIDE HYDROLASES; AGE OF ONSET; ATAXIA; DNA-BINDING PROTEINS; EVOLUTION, MOLECULAR; HUMANS; IMMUNOBLOTTING; IMMUNOHISTOCHEMISTRY; MUTATION; NEOPLASM PROTEINS; NUCLEAR PROTEINS; RNA, MESSENGER; SEQUENCE HOMOLOGY;

EID: 6044235634     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bbrc.2004.07.135     Document Type: Article

References (26)

1. H. Date, O. Onodera, H. Tanaka, K. Iwabuchi, K. Uekawa, S. Igarashi, R. Koike, T. Hiroi, T. Yuasa, Y. Awaya, T. Sakai, T. Takahashi, H. Nagatomo, Y. Sekijima, I. Kawachi, Y. Takiyama, M. Nishizawa, N. Fukuhara, K. Saito, S. Sugano, and S. Tsuji Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene Nat. Genet. 29 2001 184 188
2. M.C. Moreira, C. Barbot, N. Tachi, N. Kozuka, E. Uchida, T. Gibson, P. Mendonca, M. Costa, J. Barros, T. Yanagisawa, M. Watanabe, Y. Ikeda, M. Aoki, T. Nagata, P. Coutinho, J. Sequeiros, and M. Koenig The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin Nat. Genet. 29 2001 189 193
3. H. Shimazaki, Y. Takiyama, K. Sakoe, K. Ikeguchi, K. Niijima, J. Kaneko, M. Namekawa, T. Ogawa, H. Date, S. Tsuji, I. Nakano, and M. Nishizawa Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: the aprataxin gene mutations Neurology 59 2002 590 595
4. C. Tranchant, M. Fleury, M.C. Moreira, M. Koenig, and J.M. Warter Phenotypic variability of aprataxin gene mutations Neurology 60 2003 868 870
5. I. Le Ber, M.C. Moreira, S. Rivaud-Pechoux, C. Chamayou, F. Ochsner, T. Kuntzer, M. Tardieu, G. Said, M.O. Habert, G. Demarquay, C. Tannier, J.M. Beis, A. Brice, M. Koenig, and A. Durr Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies Brain 126 2003 2761 2772
6. M. Hirano, T. Nishiwaki, S. Kariya, Y. Furiya, M. Kawahara, and S. Ueno Novel splice variants increase molecular diversity of aprataxin, the gene responsible for early-onset ataxia with ocular motor apraxia and hypoalbuminemia Neurosci. Lett. 366 2004 120 125
7. M. Habeck, C. Zuhlke, K.H. Bentele, S. Unkelbach, W. Kress, K. Burk, E. Schwinger, and Y. Hellenbroich Aprataxin mutations are a rare cause of early onset ataxia in Germany J. Neurol. 251 2004 591 594
8. S. Akli, J. Chelly, C. Mezard, S. Gandy, A. Kahn, and L. Poenaru A "G" to "A" mutation at position -1 of a 5′ splice site in a late infantile form of Tay-Sachs disease J. Biol. Chem. 265 1990 7324 7330
9. L. Cartegni, S.L. Chew, and A.R. Krainer Listening to silence and understanding nonsense: exonic mutations that affect splicing Nat. Rev. Genet. 3 2002 285 298
10. N. Gregersen, P. Bross, M.M. Jorgensen, T.J. Corydon, and B.S. Andresen Defective folding and rapid degradation of mutant proteins is a common disease mechanism in genetic disorders J. Inherit. Metab. Dis. 23 2000 441 447
11. A. Hovnanian, A. Rochat, C. Bodemer, E. Petit, C.A. Rivers, C. Prost, S. Fraitag, A.M. Christiano, J. Uitto, M. Lathrop, Y. Barrandon, and Y. de Prost Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation Am. J. Hum. Genet. 61 1997 599 610
12. T.T. Le, D.D. Coovert, U.R. Monani, G.E. Morris, and A.H. Burghes The survival motor neuron (SMN) protein: effect of exon loss and mutation on protein localization Neurogenetics 3 2000 7 16
13. Y. Sano, H. Date, S. Igarashi, O. Onodera, M. Oyake, T. Takahashi, S. Hayashi, M. Morimatsu, H. Takahashi, T. Makifuchi, N. Fukuhara, and S. Tsuji Aprataxin, the causative protein for EAOH is a nuclear protein with a potential role as a DNA repair protein Ann. Neurol. 55 2004 241 249
14. N. Gueven, O.J. Becherel, A.W. Kijas, P. Chen, O. Howe, J.H. Rudolph, R. Gatti, H. Date, O. Onodera, G. Taucher-Scholz, and M.F. Lavin Aprataxin, a novel protein that protects against genotoxic stress Hum. Mol. Genet. 13 2004 1081 1093
15. H.C. Pace, P.N. Garrison, A.K. Robinson, L.D. Barnes, A. Draganescu, A. Rosler, G.M. Blackburn, Z. Siprashvili, C.M. Croce, K. Huebner, and C. Brenner Genetic, biochemical, and crystallographic characterization of Fhit-substrate complexes as the active signaling form of Fhit Proc. Natl. Acad. Sci. USA 95 1998 5484 5489
16. M. Kozak Point mutations define a sequence flanking the AUG initiator codon that modulates translation by eukaryotic ribosomes Cell 44 1986 283 292
17. M. Hirano, T. Yanagihara, and S. Ueno Dominant negative effect of GTP cyclohydrolase I mutations in dopa-responsive hereditary progressive dystonia Ann. Neurol. 44 1998 365 371
18. M. Hirano, W.Y. Hung, N. Cole, A.C. Azim, H.X. Deng, and T. Siddique Multiple transcripts of the human Cu,Zn superoxide dismutase gene Biochem. Biophys. Res. Commun. 276 2000 52 56
19. A. Draganescu, S.C. Hodawadekar, K.R. Gee, and C. Brenner Fhit-nucleotide specificity probed with novel fluorescent and fluorogenic substrates J. Biol. Chem. 275 2000 4555 4560
20. C. Brenner, H.C. Pace, P.N. Garrison, A.K. Robinson, A. Rosler, X.H. Liu, G.M. Blackburn, C.M. Croce, K. Huebner, and L.D. Barnes Purification and crystallization of complexes modeling the active state of the fragile histidine triad protein Protein Eng. 10 1997 1461 1463
21. B. Liu, D. Novick, S.H. Kim, and M. Rubinstein Production of a biologically active human interleukin 18 requires its prior synthesis as PRO-IL-18 Cytokine 12 2000 1519 1525
22. K. Nagai, M.F. Perutz, and C. Poyart Oxygen binding properties of human mutant hemoglobins synthesized in Escherichia coli Proc. Natl. Acad. Sci. USA 82 1985 7252 7255
23. S.J. Wearne Factor Xa cleavage of fusion proteins. Elimination of non-specific cleavage by reversible acylation FEBS Lett. 263 1990 23 26
24. S. Corbalan-Garcia, S.M. Margarit, D. Galron, S.S. Yang, and D. Bar-Sagi Regulation of Sos activity by intramolecular interactions Mol. Cell. Biol. 18 1998 880 886
25. J.I. Loizou, S.F. El-Khamisy, A. Zlatanou, D.J. Moore, D.W. Chan, J. Qin, S. Sarno, F. Meggio, L.A. Pinna, and K.W. Caldecott The protein kinase CK2 facilitates repair of chromosomal DNA single-strand breaks Cell 117 2004 17 28
26. C. Brenner Hint, Fhit, and GalT: function, structure, evolution, and mechanism of three branches of the histidine triad superfamily of nucleotide hydrolases and transferases Biochemistry 41 2002 9003 9014