Moderate expansion of a normally biallelic trinucleotide repeat in spinooerebellar ataxia type

Nature Genetics

Volumn 14, Issue 3, 1996, Pages 269-276

  Pulst, Stefan M ^a,b   Nechiporuk, Alex ^a,b   Nechiporuk, Tamilla ^a,b   Gispert, Suzana ^c   Chen, Xiao Ning ^b   Lopes Cendes, Iscia ^f   Pearlman, Susan ^b   Starkman, Sidney ^b   Orozco Diaz, Guillermo ^e   Lunkes, Astrid ^c   Dejong, Pieter ^d   Rouleau, Guy A ^f   Auburger, Georg ^c   Korenberg, Julie R ^b   Figueroa, Carla ^a,b   Sahba, Soodabeh ^a,b  

^a BURNS AND ALLEN RESEARCH INSTITUTE   (United States)

^b UNIVERSITY OF CALIFORNIA   (United States)

^c HEINRICH HEINE UNIVERSITY   (Germany)

^d ROSWELL PARK CANCER INSTITUTE   (United States)

^e Lenin Hospital   (Cuba)

^f MONTREAL GENERAL HOSPITAL   (Canada)

Author keywords

[No Author keywords available]

Indexed keywords

ATAXIA; BACTERIA (MICROORGANISMS);

COMPLEMENTARY DNA; NERVE PROTEIN; PROTEIN; SCA2 PROTEIN;

AMINO ACID SEQUENCE; ARTICLE; CHROMOSOME 12; CHROMOSOME MAP; DNA SEQUENCE; GENE EXPRESSION REGULATION; GENETICS; HUMAN; ISOLATION AND PURIFICATION; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; SEQUENCE HOMOLOGY; SPINOCEREBELLAR DEGENERATION; TRINUCLEOTIDE REPEAT;

AMINO ACID SEQUENCE; BASE SEQUENCE; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 12; DNA, COMPLEMENTARY; GENE EXPRESSION REGULATION; HUMANS; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; PROTEINS; SEQUENCE ANALYSIS, DNA; SEQUENCE HOMOLOGY, AMINO ACID; SPINOCEREBELLAR DEGENERATIONS; TRINUCLEOTIDE REPEATS;

EID: 0030292488     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1196-269     Document Type: Article

References (40)

1. Gudmundsson, K. The prevalence and occurrence of some rare neurological diseases in Iceland. Acta. Neurol. Scan. 45, 114-118 (1969).
2. Orr, H.T. et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet. 4, 221-226 (1993).
3. Kawaguchi, Y. et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet. 8, 221-228 (1994).
4. Gispert, S. et al. Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA) to chromosome 12q23-24.1. Nature Genet. 4, 295-299 (1993).
5. Pulst S.M., Nechiporuk A. & Starkman, S. Anticipation in spinocerebellar ataxia type 2. Nature Genet. 5, 8-10 (1993).
6. Flanigan, K. et al. Autosomal dominant spinocerebellar ataxia with sensory axonal neuropathy (SCA4): Clinical description and genetic localization to chromosome 16q22.1. Am. J. Hum. Genet. 59, 392-399 (1996).
7. Ranum L.P.W., Schut, L.J., Lundgren, J.K. & Orr, H.T. Spinocerebellar ataxia type 5 in a family descended from the grandparents of president Lincoln maps to chromosome. Nature Genet. 8, 280-284 (1994).
8. Gouw L.G. et al. Retinal degeneration characterizes a spinocerebellar ataxia mapping to chromosome 3p. Nature Genet. 10, 89-93 (1995).
9. Gispert, S. et al. Localization of the candidate gene D-Amino acid oxidase outside the refined I-cM region of spinocerebellar ataxia 2. Am. J. Hum. Genet. 57, 972-975 (1995).
10. Krauter, K. et al. A second-generation YAC contig map of human chromosome 12. Nature 377, 321-323 (1995).
11. Nechiporuk, A. et al. Genetic mapping of the spinocerebellar ataxia type 2 gene on human chromosome 12. Neurology 46, 1731-1735 (1996).
12. Durr, A. et al. Dominant cerebellar ataxia type I linked to chromosome 12q (SCA2: spinocerebellar ataxia type 2). Clin. Neurosci. 3, 12-16 (1995).
13. 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, 971-983 (1993).
14. 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, 77-79 (1991).
15. Koide, R. et al. Unstable expansion of CAG repeat in hereditary dentatorubral-pallidoluysian atrophy (DRPLA). Nature Genet. 6, 9-13 (1994).
16. Nagafuchi S et al. Dentatorubral and pallidoluysian atrophy expansion of an unstable CAG trinucleotide on chromosome 12p. Nature Genet. 8, 14-18 (1994).
17. Trottier, Y. et al. Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 378, 403-406 (1995).
18. Ioannou, P.A. et al. A new bacteriophage P1-derived vector for the propagation of large human DNA fragments. Nature Genet. 6, 84-89 (1994).
19. Nechiporuk, T. et al. Identification of three new microsatellite markers in the spiocerebellar ataxia type 2 (SCA2) region and 1.2 Mb physical map. Hum. Genet. 97, 462-467 (1996).
20. Gacy, A.M., Goellner G., Juranic N., Macura S. & McMurray, C.T. Trinucleotide repeats that expand in human disease form hairpin structures in vitro. Cell 81, 533-540 (1995).
21. SantaLucia, J. Jr., Allawi, H.T. & Seneviratne, P.A. Improved nearest-neighbor parameters for predicting DNA duplex stability. Biochemistry 35, 3555-3562 (1996).
22. Yamakawa, K. et al. Isolation and characterization of a candidate gene for progressive myoclonus epilepsy on 21q22.3. Hum. Mol. Genet. 4, 709-716 (1995).
23. Brook J.D. et al. Molecular basis of myotonic dystrophy: expansion of a trinucleotide (CTG) repeat at the 3′ end of a transcript encoding a protein kinase family member. Cell 68, 799-808 (1992).
24. Fu, Y.H. et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255, 1256-1258 (1992).
25. Nelson D. The fragile X syndromes. Cell Biol. 6, 5-11 (1995).
26. Goldberg, Y.P. et al. Molecular analysis of new mutations for Huyntington's disease: intermediate alleles and sex of origin effects. Nature Genetics 5, 174-179 (1993)
27. Myers, R.H. et al. De Novo expansion of a (CAG) repeat in sporadic Huntington's disease. Nature Genet. 5, 168-173 (1993).
28. Kunst, C.B. & Warren S.T. Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 77, 853-861 (1994).
29. Rubinsztein, D.C. et al. Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36 to 39 repeats. Am. J. Hum. Genet. 59, 16-22 (1996).
30. Filla, A. et al. Has spinocerebellar ataxia type 2 a distinct phenotype? Genetic and clinical study of an Italian family. Neurology 45, 793-796 (1995).
31. McMurray, C.T. Mechanisms of DNA expansion. Chromosoma 104, 2-13 (1995).
32. Chung, M.Y., Ranum, L., Duvick, L., Servadio, A., Zoghbi, H. & Orr, H.T. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1. Nature Genet. 5, 252-258 (1993).
33. Burke, J.R. et al. Huntington and DRPLA proteins selectively interact with the enzyme GAPDH. Nature Med. 2, 347-350 (1996).
34. Ikeda, H. et at. Expanded polyglutamine in the Machado-Joseph disease protein induces cell death in vitro and in vivo. Nature Genet. 13, 196-202 (1996).
35. Li, X.-J. et al. A huntingtin-associated protein enriched in brain with implications for pathology. Nature 378:398-402 (1995).
36. Cohen, D., Chumakov, I. & Weissenbach, J. A first-generation physical map of the human genome. Nature 366, 698-701 (1993).
37. Larin, Z. & Lehrach, H. Yeast artificial chromosomes: an alternative approach to the molecular analysis of mouse developmental mutations. Genet Res. 56, 203-208 (1990).
38. Korenberg, J.R. & Chen, X.N. Human cDNA mapping using a high resolution R-banding technique and fluorescence in situ-hybridization. Cytogenet. Cell Genet. 69, 196-200 (1995).
39. Huynh, D., Nechiporuk, T. & Pulst, S.-M. Alternative transcripts in the mouse neurofibromatosis type 2 (NF2) gene are conserved and code for schwannomins with distinct C-terminal domains. Hum. Mol. Genet. 3, 1075-1079 (1994a).
40. Ralston, M.L. & Jennrich, R.I. DUD, a derivative free algorithm for non-linear least squares. Technometrics 20, 7-14 (1978).