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

863 Citations (Scopus)

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
StatePublished - 1996
Externally publishedYes

Fingerprint

Trinucleotide Repeats
Ataxia
Artificial Chromosomes
Spinocerebellar Ataxias
Bacterial Artificial Chromosomes
Genes
Clone Cells
Alleles

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Pulst, S. M., Nechiporuk, A., Nechiporuk, T., Gispert, S., Chen, X. N., Lopes-Cendes, I., ... Sahba, S. (1996). Moderate expansion of a normally biallelic trinucleotide repeat in spinooerebellar ataxia type. Nature Genetics, 14(3), 269-276.

Moderate expansion of a normally biallelic trinucleotide repeat in spinooerebellar ataxia type. / Pulst, Stefan M.; Nechiporuk, Alex; Nechiporuk, Tamilla; Gispert, Suzana; Chen, Xiao Ning; Lopes-Cendes, Iscia; Pearlman, Susan; Starkman, Sidney; Orozco-Diaz, Guillermo; Lunkes, Astrid; Dejong, Pieter; Rouleau, Guy A.; Auburger, Georg; Korenberg, Julie R.; Figueroa, Carla; Sahba, Soodabeh.

In: Nature Genetics, Vol. 14, No. 3, 1996, p. 269-276.

Research output: Contribution to journalArticle

Pulst, SM, Nechiporuk, A, Nechiporuk, T, Gispert, S, Chen, XN, Lopes-Cendes, I, Pearlman, S, Starkman, S, Orozco-Diaz, G, Lunkes, A, Dejong, P, Rouleau, GA, Auburger, G, Korenberg, JR, Figueroa, C & Sahba, S 1996, 'Moderate expansion of a normally biallelic trinucleotide repeat in spinooerebellar ataxia type', Nature Genetics, vol. 14, no. 3, pp. 269-276.
Pulst SM, Nechiporuk A, Nechiporuk T, Gispert S, Chen XN, Lopes-Cendes I et al. Moderate expansion of a normally biallelic trinucleotide repeat in spinooerebellar ataxia type. Nature Genetics. 1996;14(3):269-276.
Pulst, Stefan M. ; Nechiporuk, Alex ; Nechiporuk, Tamilla ; Gispert, Suzana ; Chen, Xiao Ning ; Lopes-Cendes, Iscia ; Pearlman, Susan ; Starkman, Sidney ; Orozco-Diaz, Guillermo ; Lunkes, Astrid ; Dejong, Pieter ; Rouleau, Guy A. ; Auburger, Georg ; Korenberg, Julie R. ; Figueroa, Carla ; Sahba, Soodabeh. / Moderate expansion of a normally biallelic trinucleotide repeat in spinooerebellar ataxia type. In: Nature Genetics. 1996 ; Vol. 14, No. 3. pp. 269-276.
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