CLONING OF THE SCA7 GENE REVEALS A HIGHLY UNSTABLE CAG REPEAT EXPANSION

Authors
DAVID G ABBAS N STEVANIN G DURR 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
Citation
G. David et al., CLONING OF THE SCA7 GENE REVEALS A HIGHLY UNSTABLE CAG REPEAT EXPANSION, Nature genetics, 17(1), 1997, pp. 65-70
Citations number
44
Categorie Soggetti
Genetics & Heredity
Journal title
Nature genetics → ACNP
ISSN journal
10614036
Volume
17
Issue
1
Year of publication
1997
Pages
65 - 70
Database
ISI
SICI code
1061-4036(1997)17:1<65:COTSGR>2.0.ZU;2-Z
Abstract
The gene for spinocerebellar ataxia 7 (SCA7) has been mapped to chromo some 3q12-13. By positional cloning, we have identified a new gene of unknown function containing a CAG repeat that is expanded in SCA7 pati ents. 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 transl ated CAG repeat expansions, and is markedly associated with paternal t ransmissions. SCA7 is the first such disorder in which the degenerativ e process also affects the retina.