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Lookup NU author(s): Emeritus Professor Mike Sir Michael Rawlins, Kieren Lythgow, Professor Patrick Chinnery
Spinocerebellar ataxia type 6 (SCA6) is a common cause of dominantly inherited ataxia due to an expansion of the CAG repeat in the CACNA1A gene. Affected individuals from the same population share a common haplotype, raising the possibility that most SCA6 cases have descended from a small number of common founders across the globe. To test this hypothesis, we carried out haplotype analysis on SCA6 families from Europe, South America and the Far East, including an established de novo SCA6 expansion. A core CACNA1A disease haplotype was found in affected individuals across the globe. This was also present in the unaffected father of the de novo case, suggesting that the shared chromosome predisposes to the CAG repeat expansion at the SCA6 locus. The SCA6 expansion lies within a CpG island, which could act as a cis-acting element predisposing to repeat expansion as for other CAG/CTG repeat diseases. Polymorphic variation in this region may explain the high-risk haplotype found in SCA6 families.
Author(s): Craig K, Takiyama Y, Soong B, Jardim L, Saraiva-Pereira M, Lythgow K, Morino H, Maruyama H, Kawakami H, Chinnery P
Publication type: Article
Publication status: Published
Journal: European Journal of Human Genetics
Year: 2008
Volume: 16
Issue: 7
Pages: 841-847
ISSN (print): 1018-4813
ISSN (electronic): 1476-5438
Publisher: Nature Publishing Group
URL: http://dx.doi.org/10.1038/ejhg.2008.20
DOI: 10.1038/ejhg.2008.20
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