title: Cloning of the SCA7 gene reveals a highly unstable CAG repeat expansion.
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.
authors.affiliation: INSERM U289, Hôpital de la Salpêtrière, Paris, France.
authors.forename: G
authors.initials: G
authors.lastname: David
authors.forename: N
authors.initials: N
authors.lastname: Abbas
authors.forename: G
authors.initials: G
authors.lastname: Stevanin
authors.forename: A
authors.initials: A
authors.lastname: Dürr
authors.forename: G
authors.initials: G
authors.lastname: Yvert
authors.forename: G
authors.initials: G
authors.lastname: Cancel
authors.forename: C
authors.initials: C
authors.lastname: Weber
authors.forename: G
authors.initials: G
authors.lastname: Imbert
authors.forename: F
authors.initials: F
authors.lastname: Saudou
authors.forename: E
authors.initials: E
authors.lastname: Antoniou
authors.forename: H
authors.initials: H
authors.lastname: Drabkin
authors.forename: R
authors.initials: R
authors.lastname: Gemmill
authors.forename: P
authors.initials: P
authors.lastname: Giunti
authors.forename: A
authors.initials: A
authors.lastname: Benomar
authors.forename: N
authors.initials: N
authors.lastname: Wood
authors.forename: M
authors.initials: M
authors.lastname: Ruberg
authors.forename: Y
authors.initials: Y
authors.lastname: Agid
authors.forename: J L
authors.initials: JL
authors.lastname: Mandel
authors.forename: A
authors.initials: A
authors.lastname: Brice
mesh_terms: D000328:Adult; D017668:Age of Onset; D000368:Aged; D000483:Alleles; D000595:Amino Acid Sequence; D000067719:Ataxin-7; D002874:Chromosome Mapping; D018244:Chromosomes, Artificial, Yeast; D002893:Chromosomes, Human, Pair 3; D003001:Cloning, Molecular; D005260:Female; D005819:Genetic Markers; D014644:Genetic Variation; D018392:Genomic Imprinting; D006801:Humans; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009419:Nerve Tissue Proteins / Q000096:biosynthesis / Q000737:chemistry / Q000235:genetics*; D012160:Retina / Q000473:pathology; D012162:Retinal Degeneration / Q000235:genetics / Q000503:physiopathology; D013132:Spinocerebellar Degenerations / Q000235:genetics* / Q000401:mortality / Q000503:physiopathology; D018911:Trinucleotide Repeats
chemical_list: C000593829:ATXN7 protein, human; D000067719:Ataxin-7; D005819:Genetic Markers; D009419:Nerve Tissue Proteins