Comparative studies of the CAG repeats in the spinocerebellar ataxia type 1 (SCA1) gene

American Journal of Medical Genetics - Neuropsychiatric Genetics

Volumn 74, Issue 5, 1997, Pages 488-493

  Limprasert, Pornprot ^a,c   Nouri, Nassim ^a   Nopparatana, Chamnong ^c   Deininger, Prescott L ^a,b   Keats, Bronya J B ^a,b  

^a LOUISIANA STATE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b LOUISIANA STATE UNIVERSITY   (United States)

^c PRINCE OF SONGKLA UNIVERSITY   (Thailand)

Author keywords

CAT interruption; Evolution; Neurodegenerative disease; Trinucleotide repeat

Indexed keywords

POLYGLUTAMINE; POLYPEPTIDE; PROLINE; UNCLASSIFIED DRUG;

ALLELE; ANIMAL CELL; ARTICLE; CHIMPANZEE; GENETIC ANALYSIS; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; NONHUMAN; NUCLEOTIDE SEQUENCE; PATHOPHYSIOLOGY; POPULATION RISK; PRIORITY JOURNAL; RAT; SPINOCEREBELLAR DEGENERATION;

AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CERCOCEBUS; GERBILLINAE; GUINEA PIGS; HUMANS; MACACA; MICE; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; PAN TROGLODYTES; PEROMYSCUS; POLYMERASE CHAIN REACTION; RATS; RATS, SPRAGUE-DAWLEY; RATS, WISTAR; SCIURIDAE; SPINOCEREBELLAR DEGENERATIONS; TRINUCLEOTIDE REPEATS;

ANIMALIA; ATAXIA; CERCOPITHECIDAE; IMPLETA; PAN (APE); PAN TROGLODYTES; RODENTIA;

EID: 0030866113     PISSN: 15524841     EISSN: 1552485X     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8628(19970919)74:5<488::AID-AJMG6>3.0.CO;2-K     Document Type: Article

References (14)

1. Banfi S, Servadio, A, Chung, MY, McCall AE, Orr HT, Zoghbi, HY (1994): Characterization of the gene causing type 1 spinocerebellar ataxia and identification of the murine homology. Am J Hum Genet 55(Suppl):A17.
2. Burright EN, Clark HB, Servadio A, Mattila T, Feddersen RM, Yunis WS, Duvick LA, Zoghbi HY, Orr HT (1996): SCA1 transgenic mice: A model for degeneration caused by an expanded CAG trinucleotide repeat. Cell 82:937-948.
3. Chung MY, Ranum LPW, Duvick LA, Servadio A, Zoghbi HY, Orr HT (1993): Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type 1. Nature Genet 5:254-258.
4. Courey AJ, Tjian R (1988): Analysis of Sp1 in vivo reveals multiple transcriptional domain, including a novel glutamines-rich activation motif. Cell 55:887-898.
5. Dubourg O, Dürr A, Cancel G, Stevanin G, Chneiweiss H, Penet C, Agid Y, Brice A (1995): Analysis of the families with dominant ataxia: Clinical and molecular correlations. Ann Neurol 37:176-180.
6. Dürr A, Chneiweiss H, Khati C, Stevanin G, Cancel G, Feingold J, Agid Y, Brice A (1993): Phenotypic variability in autosomal dominant cerebellar ataxia type I is unrelated to genetic heterogeneity. Brain 116:1497-1508.
7. Dürr A, Chneiweiss H, Stevanin G, Cancel G, Panel C, Agid Y, Brice A (1994): Autosomal dominant spinocerebellar ataxia type 1: Mapping of a third locus (SCA3) and absence of genotype-phenotype correlation. Neurology 44(Suppl 2):A294.
8. Genis D, Matilla T, Volpini V, Rosell J, Davalos A, Ferrer I, Molins A, Estivill X (1995): Clinical, neuropathologic, and genetic studies of a large spinocerebellar ataxia type 1 (SCA1) kindred: (CAG)n expansion and early premonitory signs and symptoms. Neurology 45:24-30.
9. Gerber HP, Seipel K, Georgiev O, Hofferer M, Hug M, Rusconi S, Schaffner W (1994): Transcriptional activation modulated by homopolymeric glutamine and proline stretches. Science 263:808-811.
10. Goldfarb LG, Lunkes A, Vasconcelos O, Platonov FA, et al. (1994): Muta tion analysis of spinocerebellar ataxia type 1 (SCA1) in a large lakut kinship of Eastern Siberia. Am J Hum Genet 55(Suppl):A221.
11. Greenfield JG (1954): "The Spino-Cerebellar Degenerations." Oxford: Blackwell.
12. Imbert G, Trottier Y, Beckman J, Mandel JL (1994): The gene for the TATA binding protein (TBP) that contains a highly polymorphic protein coding CAG repeat maps to 6p27. Genomics 21:667-668.
13. Jodice C, Malaspina P, Persichetti F, Novelletto A, et al. (1994): Effect of trinucleotide repeat length and parental sex on phenotypic variation in spinocerebellar ataxia type I. Am J Hum Genet 6:959-965.
14. Keats BJB, Pollack MS, McCall A, Wilensky MA, et al. (1991): Tight linkage of the gene for spinocerebellar ataxia to D6S89 on the short arm of chromosome 6 in a kindred for which close linkage to both HLA and F13A1 is excluded. Am J Hum Genet 49:972-977.