Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high sensitivity to expanded CAG/glutamine repeats.
Nat Genet. 1996-11-01; 14(3): 285-291
DOI: 10.1038/ng1196-285
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1. Nat Genet. 1996 Nov;14(3):285-91.
Cloning of the gene for spinocerebellar ataxia 2 reveals a locus with high
sensitivity to expanded CAG/glutamine repeats.
Imbert G(1), Saudou F, Yvert G, Devys D, Trottier Y, Garnier JM, Weber C, Mandel
JL, Cancel G, Abbas N, Dürr A, Didierjean O, Stevanin G, Agid Y, Brice A.
Author information:
(1)Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC), CNRS,
INSERM, ULP, B.P., Illkirch, Strasbourg, France.
Comment in
Nat Genet. 1996 Nov;14(3):237-8.
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.
DOI: 10.1038/ng1196-285
PMID: 8896557 [Indexed for MEDLINE]