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

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 repea...

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Veröffentlicht in:	Nature genetics 1997-09, Vol.17 (1), p.65-70
Hauptverfasser:	Mandel, Jean-Louis, David, Gilles, Abbas, Nacer, Dürr, Alexandra, Brice, Alexis, Saudou, Frédéric, Stevanin, Giovanni, Yvert, Gaël, Weber, Chantal, Gemmill, Robert, Drabkin, Harry, Cancel, Géraldine, Agid, Yves, Giunti, Paola, Ruberg, Merle, Imbert, Georges, Benomar, Ali, Antoniou, Eric, Wood, Nick
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Age of Onset Aged Alleles Amino Acid Sequence Ataxin-7 Biochemistry, Molecular Biology Biological and medical sciences Chromosome Mapping Chromosomes, Artificial, Yeast Chromosomes, Human, Pair 3 Cloning, Molecular Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases Female Genetic Markers Genetic Variation Genomic Imprinting Humans Life Sciences Male Medical sciences Middle Aged Molecular Sequence Data Nerve Tissue Proteins - biosynthesis Nerve Tissue Proteins - chemistry Nerve Tissue Proteins - genetics Neurology Retina - pathology Retinal Degeneration - genetics Retinal Degeneration - physiopathology Spinocerebellar Degenerations - genetics Spinocerebellar Degenerations - mortality Spinocerebellar Degenerations - physiopathology Trinucleotide Repeats
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Zusammenfassung:	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.
ISSN:	1061-4036 1546-1718
DOI:	10.1038/ng0997-65