2. Academic Validation
  3. Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion

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

  • Nat Genet. 1997 Sep;17(1):65-70. doi: 10.1038/ng0997-65.
G David 1,  N Abbas,  G Stevanin,  A Dürr,  G Yvert,  G Cancel,  C Weber,  G Imbert,  F Saudou,  E Antoniou,  H Drabkin,  R Gemmill,  P Giunti,  A Benomar,  N Wood,  M Ruberg,  Y Agid,  J L Mandel,  A Brice
Affiliations

Affiliation

  • 1 INSERM U289, Hôpital de la Salpêtrière, Paris, France.
PMID: 9288099 DOI: 10.1038/ng0997-65
Abstract

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.

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