Moderate expansion of a normally biallelic trinucleotide repeat in spinooerebellar ataxia type

Stefan M. Pulst, Alex Nechiporuk, Tamilla Nechiporuk, Suzana Gispert, Xiao Ning Chen, Iscia Lopes-Cendes, Susan Pearlman, Sidney Starkman, Guillermo Orozco-Diaz, Astrid Lunkes, Pieter Dejong, Guy A. Rouleau, Georg Auburger, Julie R. Korenberg, Carla Figueroa, Soodabeh Sahba

Research output: Contribution to journalArticle

889 Scopus citations

Abstract

The gene for spinocerebellar ataxia type 2 (SC42) has been mapped to 12q24.1. A1.1-megabase contig in the candidate region was assembled in P1 artificial chromosome and bacterial artificial chromosome clones. Using this contig, we identified a CAG trinucleotide repeat with CAA interruptions that was expanded in patients with SCA2. In contrast to other unstable trinucleotide repeats, this CAG repeat was not highly polymorphic in normal individuals. In SCA2 patients, the repeat was perfect and expanded to 36-52 repeats. The most common disease allele contained (CAG)37, one of the shortest expansions seen in a CAG expansion syndrome. The repeat occurs in the 5′-coding region of SCA2 which is a member of a novel gene family.

Original languageEnglish (US)
Pages (from-to)269-276
Number of pages8
JournalNature genetics
Volume14
Issue number3
DOIs
StatePublished - Jan 1 1996

ASJC Scopus subject areas

  • Genetics

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    Pulst, S. M., Nechiporuk, A., Nechiporuk, T., Gispert, S., Chen, X. N., Lopes-Cendes, I., Pearlman, S., Starkman, S., Orozco-Diaz, G., Lunkes, A., Dejong, P., Rouleau, G. A., Auburger, G., Korenberg, J. R., Figueroa, C., & Sahba, S. (1996). Moderate expansion of a normally biallelic trinucleotide repeat in spinooerebellar ataxia type. Nature genetics, 14(3), 269-276. https://doi.org/10.1038/ng1196-269