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

✍ Scribed by Limprasert, Pornprot; Nouri, Nassim; Nopparatana, Chamnong; Deininger, Prescott L.; Keats, Bronya J.B.

Publisher: John Wiley and Sons
Year: 1997
Tongue: English
Weight: 42 KB
Volume: 74
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19970919)74:5<488::aid-ajmg6>3.0.co;2-k

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✦ Synopsis

The CAG repeat tract at the autosomal dominant spinocerebellar ataxia type 1 (SCA1) locus was analyzed in SCA1 families and French-Acadian, African-American, Caucasian, Greenland Inuit, and Thai populations. The normal alleles had 9-37 repeats, whereas disease alleles contained 44-64 repeats. The CAG repeat tract contained one or two CAT interruptions in 44 of 47 normal human chromosomes and in all five chimpanzees examined. In contrast, no CAT interruptions were found in Old World monkeys or expanded human alleles. The number and positions of CAT interruptions may be important in stabilizing CAG repeat tracts in normal chromosomes. At least five codons occupy the region corresponding to the polyglutamine tract at the SCA1 locus in mice, rats, and other rodents. They comprise three or four CCN (coding for proline) in addition to one or two CAG repeats. Am.

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