Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the α(1A)-voltage-dependent calcium channel

Nature Genetics

Volumn 15, Issue 1, 1997, Pages 62-69

  Zhuchenko, Olga ^a   Bailey, Jennifer ^a   Bonnen, Penelope ^a   Ashizawa, Tetsuo ^a,b   Stockton, David W ^a   Amos, Chris ^c   Dobyns, William B ^d   Subramony, S H ^e   Zoghbi, Huda Y ^a   Lee, Cheng Chi ^a  

^a BAYLOR COLLEGE OF MEDICINE   (United States)

^b MICHAEL E DEBAKEY VETERANS AFFAIRS MEDICAL CENTER   (United States)

^c UNIVERSITY OF TEXAS MD ANDERSON CANCER CENTER   (United States)

^d UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^e UNIVERSITY OF MISSISSIPPI MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM; CALCIUM CHANNEL; POLYGLUTAMIC ACID;

ALLELE; AMINO ACID SEQUENCE; ATAXIA; AUTOSOMAL DOMINANT DISORDER; CALCIUM CURRENT; CEREBELLAR ATAXIA; DNA SEQUENCE; GENETIC POLYMORPHISM; GENOTYPE; HUMAN; HUMAN CELL; HUMAN TISSUE; NORTHERN BLOTTING; OPEN READING FRAME; PHENOTYPE; PRIORITY JOURNAL; REVIEW;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; CALCIUM CHANNELS; CEREBELLAR ATAXIA; FEMALE; GENES, DOMINANT; GENOTYPE; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NERVE TISSUE PROTEINS; PEDIGREE; PEPTIDES; RABBITS; SEQUENCE HOMOLOGY, AMINO ACID; TRINUCLEOTIDE REPEATS;

EID: 0031012399     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0197-62     Document Type: Review

References (45)

1. Warren, S.T. The expanding world of trinucleotide repeats. Science 271, 1374-1375 (1996).
2. 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).
3. 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).
4. Orr, H. et al. Expansion of an unstable trinucleotide (CAG) repeat in spinocerebellar ataxia type 1. Nature Genet. 4, 221-226 (1993).
5. Pulst, S.M. et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nature Genet. 14, 269-276 (1996).
6. Sanpei, K. et al. Identification of the gene for spinocerebellar ataxia type 2 using a direct identification of repeat expansion and cloning technique, DIRECT. Nature Genet. 14, 277-284 (1996).
7. Imbert, G., et al. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nature Genet. 14, 285-291 (1996).
8. Kawaguchi, Y. et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nature Genet. 8, 221-235 (1994).
9. Koide, R. et al. Unstable expansion of CAG repeat in hereditary dentatorubralpallidoluysian atrophy (DRPLA). Nature Genet. 6, 9-13 (1994).
10. Zoghbi, H.Y. & Caskey, C.T. Inherited disorders caused by trinucleotide repeat expansions. Adv. Hum. Genet. (eds Harris, H. & Hirschorn, K.H.) (Plenum, New York, in the press).
11. 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).
12. Gu, Y., Shen, Y., Gibbs, R.A. & Nelson, D.L. Identification of FMR2, a novel gene associated with the FRAXE CCG repeat and CpG island. Nature Genet. 13, 109-113 (1996).
13. Fu, Y.-H. et al. An unstable triplet repeat in a gene related to myotonic muscular dystrophy. Science 255, 1256-1259 (1992).
14. Campuzano, V. et al. Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion. Science 271, 1423-1427 (1996).
15. Chong, S.S. et al. Gametic and somatic tissue-specific heterogeneity of the expanded SCA1 CAG repeat in spinocerebellar ataxia type 1. Nature Genet. 10, 344-353 (1995).
16. Telenius, H. et al. Molecular analysis of juvenile Huntington disease: the major influence on (CAG)n repeat length is the sex of the affected parent. Hum. Mol. Genet. 2, 1535-1540 (1993).
17. Housman, D. Gain of glutamines, gain of function. Nature Genet. 10, 3-4 (1995).
18. Trottier, Y. et al. Polyglutamine expansion as a pathological epitope in Huntington's disease and four dominant cerebellar ataxias. Nature 378, 403-406 (1995).
19. Mori, Y. et al. Primary structure and functional expression from complementary DNA of a brain calcium channel. Nature 350, 398-402 (1991).
20. Starr, T.V.B., Prystay, W. & Snutch, T.P. Primary structure of a calcium channel that is highly expressed in the rat cerebellum. Proc. Natl. Acad. Sci. USA 88, 5621-5625 (1991).
21. 2+ channels with the presynaptic proteins syntaxin and SNAP-25. Proc. Natl. Acad. Sci. USA 93, 7363-7368 (1996).
22. 2+ channel subunits. Genomics 30, 605-609 (1995).
23. Margolis et al. Characterization of cDNA clones containing CCA trinucleotide repeats derived from human brain. Somat. Cell Mol. Genet 21, 279-284 (1995)
24. 2+ channel gene CACNL1A4. Cell, 87, 543-552 (1996).
25. 2+ channels in the mammalian central nervous system. Trends Neurosci. 15, 351-355 (1992).
26. Cottingham, R.W., Idury, R.M. & Schaffer, A.A. Faster sequential genetic linkage computations. Am. J. Hum. Genet 53, 252-263 (1993).
27. Lathrop, G.M., Lalouel, J.M., Julier, C. & Ott, J. Strategies for multilocus linkage analysis in humans. Proc. Natl. Acad. Sci. USA 81, 3443-3446 (1984).
28. Subramony, S.H., Fratkin, J.D., Manyam, B.V. & Currier, R.D. Dominantly inherited cerebello-olivary atrophy is not due to a mutation at the spinocerebellar ataxia-I, Machado-Joseph disease, or Dentato-Rubro-Pallido-Luysian Atrophy locus. Movement Disorders 11, 174-180 (1996).
29. Stevanin, G. et al. A third locus for autosomal dominant cerebellar ataxia type 1 maps to chromosome 14q24.3-qter evidence for the existence of a fourth locus. Am. J. Hum. Genet. 54, 11-20 (1994).
30. Twells, R, et al. Autosomal dominant cerebellar ataxia with dementia: evidence of a fourth disease locus. Hum. Mol. Genet. 1, 177-190 (1994).
31. Vahedi, K. et al. A gene for hereditary paroxysmal cerebellar ataxia maps to chromosome 19p. Annls. Neurol. 37, 289-293 (1995).
32. Kramer, P.L. et al. A locus for the nystagmus-associated form of episodic ataxia maps to an 11-cM region on chromosome 19p. Am. J. Hum. Genet. 57, 182-185 (1995).
33. Joutel, A. et al. A gene for familial hemiplegic migraine maps to chromosome 19. Nature Genet. 5, 41-45 (1993).
34. Elliott, M., Peroutka, S.J., Welch, S. & May, E.F. Familial hemiplegic migraine, nystagmus, and cerebellar atrophy. Annls. Neurol. 39, 1, 100-106 (1996).
35. Koh, J.Y., & Cotman, C.W. Programmed cell death: its possible contribution to neurotoxicity mediated by calcium channel antagonist. Brain Res. 587, 233-240 (1996).
36. Catterall, W.A. Structure and function of voltage-gated ion channels. Annu. Rev. Biochem. 64, 493-531 (1995).
37. Perez-Reyes, E., Yuan, W., Wei, X. & Bers, M. Regulation of the cloned L-type cardiac calcium channel by cyclic-AMP-dependent protein kinase FEBS Lett 342, 119-123 (1994).
38. 1A calcium channel reflect similarities to neuronal Q-and P-type channels. Proc. Natl. Acad. Sci. USA 91, 10576-10580 (1994).
39. Birnbaumer, L. et al. The naming of voltage-gated calcium channels. Neuron 13, 505-506 (1994).
40. 2+ channels and their possible counterparts in mammalian CNS neurons. Neuropharmacology 32, 1075-1088 (1993).
41. Mintz, I.M., Adams, M.E. & Bean, B.P. P-type calcium channels in rat and peripheral neurons. Neuron 9, 85-95 (1992).
42. Fletcher, C.F. et al. Absence epilepsy in Tottering mutant mice is associated with calcium channel defects. Cell 87, 607-617 (1996).
43. Mintz, I.M. Block of Ca channels in rat central neurons by the spider toxin omega-Aga-IIIA. J. Neurosci. 14, 2844-2853 (1994).
44. Gubler, U., & Hoffman., B.J. A simple and very efficient method for generating cDNA libraries. Gene 25, 263-269 (1983).
45. Sambrook, J., Fritsch, E.F. & Maniatis, T. Molecular Cloning. A Laboratory Manual. (Cold Spring Harbor, New York, 1989).