The effect of CAT trinucleotide interruptions on the age at onset of spinocerebellar ataxia type 1 (SCA1)

Journal of Medical Genetics

Volumn 36, Issue 7, 1999, Pages 546-548

  Matsuyama, Zenjiro ^a   Izumi, Yuishin ^b   Kameyama, Masakuni ^c   Kawakami, Hideshi ^b   Nakamura, Shigenobu ^b  

^a NATIONAL INSTITUTE FOR PHYSIOLOGICAL SCIENCES   (Japan)

^b HIROSHIMA UNIV SCHOOL OF MEDICINE   (Japan)

^c SUMITOMO HOSPITAL   (Japan)

Author keywords

CAG repeat; CAT interruption; SCA1; SfaNI

Indexed keywords

RESTRICTION ENDONUCLEASE; TRINUCLEOTIDE;

AGED; ALLELE; ARTICLE; ATAXIA; BRAIN ATROPHY; BRAIN STEM; CASE REPORT; HUMAN; MALE; ONSET AGE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

AGE OF ONSET; AGED; ALLELES; DEOXYRIBONUCLEASES, TYPE II SITE-SPECIFIC; HUMANS; MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; SPINOCEREBELLAR DEGENERATIONS; TRINUCLEOTIDE REPEAT EXPANSION;

ATAXIA;

EID: 0033042856     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Orr HT, Chung MY, Babfi S, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1. Nat Genet 1993;4:221-6.
2. Chung MY, Ranum LPW, Duvick LA, Servadio A, Zoghbi HY, Orr HT. Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1. Nat Genet 1993;5:254-8.
3. Quan F, Janas J, Popovich BW, A novel CAG repeat configuration in the SCA1 gene: implications for the molecular diagnostics of spinocerebellar ataxia type 1. Hum Mol Genet 1995;4:2411-13.
4. Sambrook J, Fritsch EF, Maniatis T. Molecular cloning: a laboratory manual. 2nd ed. Cold Spring Harbor, NY: Cold Spring Harbor Laboratory Press, 1989.
5. Imbert G, Saudou F, Yvert G. Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats. Nat Genet 1996;14: 285-91.
6. Pulst SM, Nechiporuk A, Nechiporuk T, et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2. Nat Genet 1996;14:269-76.
7. Sanpei K, Takano H, Igarashi S, et al. Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. Nat Genet 1996;14:277-84.
8. McMurray CT. Mechanisms of DNA expansion. Chromosoma 1995;104:2-13.
9. Skinner PJ, Koshy BT, Cummings CJ, et al. Ataxin-1 with an expanded glutamine tract alters nuclear matrix-associated structures. Nature 1997;389:971-4.
10. Klement IA, Skinner PJ, Kaytor MD, et al. Ataxin-1 nuclear localization and aggregation: role in polyglutamine-induced disease in SCA1 transgenic mice. Cell 1998;95:41- 53.