Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I

Nature Genetics

Volumn 5, Issue 3, 1993, Pages 254-258

  Chung, Ming Yi ^a   Ranum, Laura P W ^a   Duvick, Lisa A ^a   Servadio, Antonio ^b   Zoghbi, Huda Y ^b   Orr, Harry T ^a  

^a UNIVERSITY OF MINNESOTA   (United States)

^b BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

REPETITIVE DNA;

ALLELE; ARTICLE; ATAXIA; CHROMOSOME 6P; GENE SEQUENCE; GENETIC STABILITY; SPINOCEREBELLAR DEGENERATION;

BASE SEQUENCE; CELL LINE; CHROMOSOMES, HUMAN, PAIR 6; DNA; DNA PRIMERS; GENES, DOMINANT; HUMAN; MOLECULAR SEQUENCE DATA; REPETITIVE SEQUENCES, NUCLEIC ACID; SPINOCEREBELLAR DEGENERATIONS; SUPPORT, NON-U.S. GOV'T; SUPPORT, U.S. GOV'T, P.H.S.; VARIATION (GENETICS);

ATAXIA;

EID: 0027495515     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng1193-254     Document Type: Article

References (26)

1. Schut, J. W. Hereditary ataxia: clincal study through six generations. Arch. Neur. Psychiat. 63, 535-567 (1954).
2. Currier, R. D., Glover, G., Jackson, J. F. & Tipton, A. C. Spinocerebellar ataxia: study of a large kindred. Neurology 22, 1040-1043 (1972).
3. Nino, H. E. et al. A family with herediatary ataxia: HLA typing. Neurology 30, 12-20 (1980).
4. 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).
5. Konigsmark, B. W. & Weiner, L. P. The olivopontocerebellar atrophies: a review. Medicine 49, 227-241 (1970).
6. Haines, J. L. et al. Spinocerebellar ataxia in a large kindred: age at onset, reproduction, and genetic linkage studies. Neurology 34, 1542-1548 (1984).
7. Yakura, H., Wakisaka, A., Fujimoto, S. & Itakur, K. Hereditary ataxia and HLA genotypes. New Engl. J. Med. 291, 154-155 (1974).
8. Morton, N. E., Lalouel, J.-M., Jackson, J. F., Currier, R. D. & Yee, S. Linkage studies in spinocerebellar ataxia (SCA). Am. J. med. Genet. 6, 251-257 (1980).
9. Pederson, L., Platz, P., Ryder, L. P., Lamm, L. U. & Dissing, J. A linkage study of hereditary ataxias and related disorders: evidence of heterogeneity of dominant cerebellar ataxia. Hum. Genet. 54, 371-383 (1980).
10. Whittington, J. E., Keats, B. B. & Jackson, J. F. Linkage studies of glyoxalase (GLO), pepsinogen (PG), spinocerebellar ataxia (SCA1), and HLA. Cytogenet. Cell Genet. 28, 145-150 (1980).
11. 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. 49, 31-41 (1991).
12. Zoghbi, H. Y. et al. Assignment of autosomal dominant spinocerebellar ataxia (SCA1) centromeric to the HLA region on the short arm of chromosome 6, using multilocus linkage analysis. Am. J. hum. Genet. 49, 23-30 (1991).
13. Kwiatkowski, T. J. Jr. 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).
14. 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. 2 Mb. (in the press).
15. Orr, H. T. et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nature Genet. 4, 221-226 (1993).
16. 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).
17. LaSpada, A. R. et al. Androgen receptor gene mutations in X-linked spinal and bulbar muscular dystrophy. Nature 352, 77-79 (1991).
18. Brook, J. D. et al. Molecular basis of myotonic dystrophy. Cell 68, 799-808 (1992).
19. Fu, Y.-H. et al. Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67, 1047-1058 (1991).
20. La Spada, A. R. et al. Meiotic stability and genotype-phenotype correlation of the trinucleotide repeat in X-linked and bulbar muscular dystrophy. Nature Genet. 2, 301-304 (1992).
21. Sleddens, H. F. B. M., Oostra, B. A., Brinkmann, A. O. & Trapman, Trinucleotide repeat polymorphism in the androgen receptor gene (AR). Nucl. Acids Res. 20, 1427 (1992).
22. Gostout, B., Liu, Q. & Sommer, S. S. "Cryptic" repeating triplets of purines and pyrimidines (cRRY(i)) are frequent and polymorphic: analysis of coding cRRY(i) in the proopiomelanocortin (POMC) and TATA-binding protein (TBP) genes. Am. J. hum. Genet. 52, 1182-1190 (1993).
23. Kremer, E. J. et al. Mapping of DNA instability at the Fragile X to a trinucleotide repeat sequence p(CCG)n. Science 252, 1711-1714 (1991).
24. Oberle, I. et al. Instability of a 550-base pair DNA segment and abnormal methylation in fragile X syndrome. Science 252, 1097-1102 (1991).
25. Verkerk, A. J. M. H. et al. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in Fragile X syndrome. Cell 65, 905-914 (1991).
26. Richards, R. I. & Sutherland, G. R. Dynamic mutations: a new class of mutations causing human disease. Cell 70, 709-712 (1992).