Identification and expression of the gene for human ataxin-2-related protein on chromosome 16

Experimental Neurology

Volumn 184, Issue 2, 2003, Pages 669-678

  Figueroa, Karla P ^a   Pulst, Stefan M ^a,b  

^a BURNS AND ALLEN RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

Author keywords

A2RP; Caspase 3; ER exit signal; SCA2; Sm1 and Sm2 RNA splicing motifs; Spinocerebellar ataxia; Trans Golgi signal

Indexed keywords

AMINO ACID; ATAXIN 2; ATAXIN 2 RELATED PROTEIN; ISOPROTEIN; NUCLEOTIDE; PROTEIN; UNCLASSIFIED DRUG;

AMINO ACID COMPOSITION; ARTICLE; CARBOXY TERMINAL SEQUENCE; CATTLE; CHROMOSOME 16; EVOLUTION; FROG; GENE EXPRESSION; GENE IDENTIFICATION; HUMAN; HUMAN TISSUE; NONHUMAN; NORTHERN BLOTTING; NUCLEOTIDE SEQUENCE; ORTHOLOGY; PLANT; PREDICTION; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN DOMAIN; PROTEIN EXPRESSION; PROTEIN FAMILY; SEQUENCE HOMOLOGY; SWINE; WESTERN BLOTTING;

EID: 0442310710     PISSN: 00144886     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0014-4886(03)00287-5     Document Type: Article

References (21)

1. David G., Abbas N., Stevanin G., Durr A., Yvert G., Cancel G., Weber C., Imbert G., Saudou F., Antoniou E., Drabkin H., Gemmill R., Giunti P., Benomar A., Wood N., Ruberg M., Agid Y., Mandel J.L., Brice A. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion. Nat. Genet. 17:1997;65-70.
2. Deo R.C., Sonenberg N., Burley S.K. X-ray structure of the human hyperplastic discs protein: an ortholog of the C-terminal domain of poly(A)-binding protein. Proc. Natl. Acad. Sci. U. S. A. 98:2001;4414-4419.
3. Hermann H., Fabrizio P., Raker V.A., Foulaki K., Hornig H., Brahms H., Luhrmann R. snRNP Sm proteins share two evolutionarily conserved sequence motifs which are involved in Sm protein-protein interactions. EMBO J. 14:1995;2076-2088.
4. Huynh D.P., Del Bigio M.R., Ho D.H., Pulst S.M. Expression of ataxin-2 in brains from normal individuals and patients with Alzheimer's disease and spinocerebellar ataxia 2. Ann. Neurol. 45:1999;232-241.
5. Huynh D.P., Figueroa K., Hoang N., Pulst S.M. Nuclear localization or inclusion body formation of ataxin-2 are not necessary for SCA2 pathogenesis in mouse or human. Nat. Genet. 26:2000;44-50.
6. Kawaguchi Y., Okamoto T., Taniwaki M., Aizawa M., Inoue M., Katayama S., Kawakami H., Nakamura S., Nishimura M., Akiguchi I.et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat. Genet. 8:1994;221-228.
7. Koide R., Ikeuchi T., Onodera O., Tanaka H., Igarashi S., Endo K., Takahashi H., Kondo R., Ishikawa A., Hayashi T.et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nat. Genet. 6:1994;9-13.
8. Kozlov G., Trempe J.F., Khaleghpour K., Kahvejian A., Ekiel I., Gehring K. Structure and function of the C-terminal PABC domain of human poly(A) -binding protein. Proc. Natl. Acad. Sci. U. S. A. 98:2001;4409-4413.
9. La Spada A.R., Wilson E.M., Lubahn D.B., Harding A.E., Fischbeck K.H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature. 352:1991;77-79.
10. Meunier C., Bordereaux D., Porteu F., Gisselbrecht S., Chretien S., Courtois G. Cloning and characterization of a family of proteins associated with Mpl. J. Biol. Chem. 277:2002;9139-9147.
11. Nakamura K., Jeong S.Y., Uchihara T., Anno M., Nagashima K., Nagashima T., Ikeda S., Tsuji S., Kanazawa I. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum. Mol. Genet. 10:2001;1441-1448.
12. Nechiporuk T., Huynh D.P., Figueroa K., Sahba S., Nechiporuk A., Pulst S.M. The mouse SCA2 gene: cDNA sequence, alternative splicing and protein expression. Hum. Mol. Genet. 7:1998;1301-1309.
13. Neuwald A.F., Koonin E.V. Ataxin-2, global regulators of bacterial gene expression, and spliceosomal snRNP proteins share a conserved domain. J. Mol. Med. 76:1998;3-5.
14. Orr H.T., Chung M.Y., Banfi S., Kwiatkowski T.J. Jr., Servadio A., Beaudet A.L., McCall A.E., Duvick L.A., Ranum L.P., Zoghbi H.Y. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat. Genet. 4:1993;221-226.
15. Pulst S.M., Nechiporuk A., Nechiporuk T., Gispert S., Chen X.N., Lopes-Cendes I., Pearlman S., Starkman S., Orozco-Diaz G., Lunkes A., DeJong P., Rouleau G.A., Auburger G., Korenberg J.R., Figueroa C., Sahba S. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat. Genet. 14:1996;269-276.
16. Shibata H., Huynh D.P., Pulst S.M. A novel protein with RNA-binding motifs interacts with ataxin-2. Hum. Mol. Genet. 9:2000;1303-1313.
17. The Huntington's Disease Collaborative Research Group A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell. 72:1993;971-983.
18. Toro I., Thore S., Mayer C., Basquin J., Seraphin B., Suck D. RNA binding in an Sm core domain: X-ray structure and functional analysis of an archaeal Sm protein complex. EMBO J. 20:2001;2293-2303.
19. Wiedemeyer R., Westermann F., Wittke I., Nowock J., Schwab M. Ataxin-2 promotes apoptosis of human neuroblastoma cells. Oncogene. 22:2003;401-411.
20. Yamakawa K., Mitchell S., Hubert R., Chen X.N., Colbern S., Huo Y.K., Gadomski C., Kim U.J., Korenberg J.R. Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3. Hum. Mol. Genet. 4:1995;709-716.
21. Zhuchenko O., Bailey J., Bonnen P., Ashizawa T., Stockton D.W., Amos C., Dobyns W.B., Subramony S.H., Zoghbi H.Y., Lee C.C. Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1 A-voltage-dependent calcium channel. Nat. Genet. 15:1997;62-69.