Identification and characterization of the gene causing type 1 spinocerebellar ataxia

Nature Genetics

Volumn 7, Issue 4, 1994, Pages 513-520

  Banfi, Sandro ^a   Servadio, Antonio ^a   Chung, Ming yi ^b   Kwiatkowski, Thomas J ^a   McCall, Alanna E ^a   Duvick, Lisa A ^b   Shen, Ying ^a   Roth, Elizabeth J ^a   Orr, Harry T ^b   Zoghbi, H Y ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b UNIVERSITY OF MINNESOTA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GLUTAMINE; TRINUCLEOTIDE;

ARTICLE; BASE PAIRING; CEREBELLAR ATAXIA; EXON; GENE MAPPING; GENETIC ORGANIZATION; GENETIC TRANSCRIPTION; HUMAN; HUMAN TISSUE; NERVE DEGENERATION; PRIORITY JOURNAL; SPINOCEREBELLAR TRACT; TANDEM REPEAT; TRANSCRIPTION REGULATION; TRANSLATION REGULATION;

ALTERNATIVE SPLICING; AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMOSOME MAPPING; DNA; DNA PRIMERS; EXONS; GENES; HUMANS; INTRONS; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; OLIGODEOXYRIBONUCLEOTIDES; REPETITIVE SEQUENCES, NUCLEIC ACID; RNA, MESSENGER; SPINOCEREBELLAR DEGENERATIONS;

ATAXIA;

EID: 0028017992     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng0894-513     Document Type: Article

References (43)

1. Greenfield, J.G. The spino-cerebellar degenerations (Charles C. Thomas, Springfield, Illinois, 1954).
2. Zoghbi, H.Y. The spinocerebellar degenerations in Current Neurology (ed. Appel, S.H.)121-144 (Mosby-Year Book, St-Louis, 1991).
3. Schut, J.W. Hereditary ataxia: clinical study through six generations.Arch. Neurol. Psychiat. 63, 535-567 (1954).
4. Currier, R.D., Glover, G., Jackson, J.F. & Tipton, A.C. Spinocerebellar ataxia: study of a large kindred. Neurology 22, 1040-1043 (1972).
5. Haines, J.L., Schut, L.J. & Weitkamp, L.R. Spinocerebellar ataxia in large kindred: age at onset, reproduction, and genetic linkage studies.Neurology 34, 1542-1548 (1984).
6. Zoghbi, H.Y. et al. Spinocerebellar ataxia: variable age of onset and linkage to human leukocyte antigen in a large kindred. Ann. Neurol. 23, 580-584 (1988).
7. Jackson, J.F., Currier, R.D., Terasaki, P.I. & Morton, N.E. Spinocerebellar ataxia and HLA linkage: risk prediction by HLA typing. New Engl. J. Med.296, 1138-1141 (1977).
8. Zoghbi, H.Y. et al. The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps telomeric to HLA complex and is closely linked to the D6S89 locus in three large kindreds. Am. J. hum. Genet. 49, 23-30 (1991).
9. Ranum, L.P.W. et al. Localization of the autosomal dominant, HLA-linked spinocerebellar ataxia (SCA1) locus in two kindreds within an 8cM subregion of chromosome 6p. Am. J. hum. Genet. 48, 31-41 (1991).
10. Kwiatkowski Jr, T.J. et al. The gene for autosomal dominant spinocerebellar ataxia (SCA1) maps centromeric to D6S89 and shows no recombination, in nine large kindreds, with a dinucleotide repeat at the AM10 locus. Am. J. hum. Genet. 53, 391-400 (1993).
11. Banfi, S. et al. Mapping and cloning of the critical region for the spinocerebellar ataxia type 1 gene in a yeast artificial chromosome contig spanning 1.2Mb. Genomics 18, 627-635 (1993).
12. Orr, H. et al. Expansion of an unstable trinucleotide (CAG) repeat in spinocerebellar ataxia type 1. Nature Genet. 4, 221-226 (1993).
13. Matilla, T. et al. Presymptomatic analysis of spinocerebellar ataxia type 1 (SCA1) via the expansion of the SCA1 CAG-repeat in a large pedigree displaying anticipation and parental male bias. Hum. molec. Genet. 2, 2123-2128 (1993).
14. Jodice, C. et al. Effect of trinucleotide repeat length and parental sex on phenotyplc variation in spinocerebellar ataxia 1. Am. J. hum. Genet. 54, 959-965 (1994).
15. Ranum, L.P.W. et al. Molecular and clinical correlations in spinocerebellar ataxia type 1 (SCA1): evidence for familial effects on the age of onset.Am. J. hum. Genet. 55, 244-252 (1994).
16. Kozak, M. The scanning model for translation: an update. J. cell. Biol108, 229-241 (1989).
17. Adams, M.D., Kerlavage, A.R., Fields, C. & Venter, J.C. 3400 Expressed sequence tags identity diversity of transcripts from human brain. Nature Genet. 4, 256-267 (1993).
18. Frohman, M.A. Race: rapid amplification of cDNA ends in PCR protocols. A guide to methods and applications (eds Innis, M.A., Gelfand, D.H., Sninsky, J.J.& Whit, T.J.) (Academic Press, San Diego, 1990).
19. Cripe, L.D., Moore, K.D. & Kane, W.H. Structure of the gene for human coagulation factor V. Biochem. 31, 3777-3785 (1992).
20. Ludwig, E.H. et al. DNA sequence of the human apolipoprotein B gene.DNA 6, 363-372 (1987).
21. Myers, R.L., Payson, R.A., Chotani, M.A., Deaven, L.L. & Chiu, I.M. Gene structure and differential expression of acidic fibroblast growth factor mRNA: identification and distribution of four different transcripts.Oncogene 8, 341-349 (1993).
22. Link, D.C., Gutkind, S.J., Robbins, K.C. & Ley, T.J. Characterization of the 5' region of the human c-fgr and identification of the major myelomonocytic c-fgr promoter. Oncogene 7, 877-884 (1992).
23. Rastinejad, F., Conboy, M.J., Rando, T.A. & Blau, H.M. Suppression by RNA from the 3' untranslated region of-tropomyosin. Cell 75, 1107-1117 (1993).
24. La Spada, A.R., Wilson, E.M., Lubahn, D.B., Harding, A.E. & Fischbeck, H. Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy. Nature 352, 77-79 (1991).
25. The Huntingdon's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 72, 971-983 (1993).
26. Koide, R. et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet. 6, 9-13 (1994).
27. Nagafuchi, S. et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genet. 6, 14-18 (1994).
28. Tilley, W.D., Marcelli, M. & McPhaul, M.J. Expression of the human androgen receptor gene utilizes a common promoter In diverse human tissues and cell lines. J. biol. Chem. 265, 13776-13781 (1990).
29. Lin, B. et al. Differential 3' polyadenylation of the Huntington disease gene results In two mRNA species with variable tissue expression. Hum. molec. Genet. 2, 1541-1545 (1993).
30. Pieretti, M. et al. Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66, 817-822 (1991).
31. Fu, Y.-H. et al. Decreased expression of myotonin-protein kinase messenger RNA and protein in adult form of myotonic dystrophy. Science260, 235-238 (1993).
32. Sabouri, L.A. et al. Effect of the myotonic dystrophy (DM) mutation on mRNA levels of the DM gene. Nature Genet. 4, 233-238 (1993).
33. Trifiro, M. et al. The 56/58 kDa androgen-bindlng protein in male genital skin fibroblasts with a deleted androgen receptor gene. Molec. cell. Endocrinol. 75, 37-47 (1991).
34. Quigley, C.A. et al. Complete deletion of the androgen receptor gene: definition of the null phenotype of the androgen insensitivity syndrome and determination of carrier status. J. clin. Endocrinol. Metab. 74, 927-933 (1992).
35. Feinberg, A.P. & Vogelstein, B. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Analytical Biochem. 137, 266-267 (1984).
36. Sealy, P.G., Whittaker, P.A. & Southern, E.M. Removal of repeated sequences from hybridization probes. Nucl. Acids Res. 13, 1905-1922 (1985).
37. Zoghbi, H.Y., Daiger, S.P., McCall, A., O'Brien, W.E. & Beaudet, A.L. Extensive DNA polymorphism at the factor Xllla (F13a) locus and linkage to HLA. Am. J. hum. Genet. 42, 877-883 (1988).
38. Bankier, A.T., Weston, K.M. & Barrel, B.G. Random cloning and sequencing by the M13 dideoxynucleotide termination method. Meth. Enzymol. 155, 55-93 (1987).
39. Gibbs, R., Nguyen, P.N., Mc Bride, L.J., Koepf, S.M. & Caskey, C.T. Identification of mutations leading to the Lesch-Nyhan syndrome by automated direct DNA sequencing of in vitro amplified cDNA. Proc. natn. Acad. Sci. U.S.A 86, 1919-1923 (1989).
40. Marchuk, D., Drumm, M., Saulino, A. & Collins, F.S. Construction of T-vectors, a rapid and general system for direct cloning of unmodified PCR products. Nucl. Acids Res. 19, 1154 (1990).
41. Altschul, S.F., Gish, W., Miller, W., Myers, E.W. & Lipman, D.J. A basic local alignment search tool. J. molec. Biol. 215, 403-410 (1990).
42. Wapenaar, M.C. et al. The genes for X-linked ocular albinism (OA1) and microphthalmia with linear skin defects (MLS): cloning and characterization of the critical regions. Hum. molec. Genet. 2, 947-952 (1993).
43. Groden, J. et al. Identification and characterization of the familial adenomatous polyposis Coli gene. Cell 66, 589-600 (1991).