Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.

Gilles David, Nacer Abbas, Giovanni Stevanin, Alexandra Dürr, Gaël Yvert, Géraldine Cancel, Chantal Weber, Georges Imbert, Frédéric Saudou, Eric Antoniou, Harry Drabkin, Robert Gemmill, Paola Giunti, Ali Benomar, Nick Wood, Merle Ruberg, Yves Agid, Jean-Louis Mandel, Alexis Brice
Nat Genet. 1997-09-01; 17(1): 65-70
DOI: 10.1038/ng0997-65

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1. Nat Genet. 1997 Sep;17(1):65-70.

Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.

David G(1), Abbas N, Stevanin G, Dürr A, Yvert G, Cancel G, Weber C, Imbert G,
Saudou F, Antoniou E, Drabkin H, Gemmill R, Giunti P, Benomar A, Wood N, Ruberg
M, Agid Y, Mandel JL, Brice A.

Author information:
(1)INSERM U289, Hôpital de la Salpêtrière, Paris, France.

The gene for spinocerebellar ataxia 7 (SCA7) has been mapped to chromosome
3p12-13. By positional cloning, we have identified a new gene of unknown function
containing a CAG repeat that is expanded in SCA7 patients. On mutated alleles,
CAG repeat size is highly variable, ranging from 38 to 130 repeats, whereas on
normal alleles it ranges from 7 to 17 repeats. Gonadal instability in SCA7 is
greater than that observed in any of the seven known neuro-degenerative diseases
caused by translated CAG repeat expansions, and is markedly associated with
paternal transmissions. SCA7 is the first such disorder in which the degenerative
process also affects the retina.

DOI: 10.1038/ng0997-65
PMID: 9288099 [Indexed for MEDLINE]

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