| Literature DB >> 8896557 |
G Imbert1, F Saudou, G Yvert, D Devys, Y Trottier, J M Garnier, C Weber, J L Mandel, G Cancel, N Abbas, A Dürr, O Didierjean, G Stevanin, Y Agid, A Brice.
Abstract
Two forms of the neurodegenerative disorder spinocerebellar ataxia are known to be caused by the expansion of a CAG (polyglutamine) trinucleotide repeat. By screening cDNA expression libraries, using an antibody specific for polyglutamine repeats, we identified six novel genes containing CAG stretches. One of them is mutated in patients with spinocerebellar ataxia linked to chromosome 12q (SCA2). This gene shows ubiquitous expression and encodes a protein of unknown function. Normal SCA2 alleles (17 to 29 CAG repeats) contain one to three CAAs in the repeat. Mutated alleles (37 to 50 repeats) appear particularly unstable, upon both paternal and maternal transmissions. The sequence of three of them revealed pure CAG stretches. The steep inverse correlation between age of onset and CAG number suggests a higher sensitivity to polyglutamine length than in the other polyglutamine expansion diseases.Entities:
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Year: 1996 PMID： 8896557 DOI： 10.1038/ng1196-285
Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330