Nat Genet. 1996 Nov;14(3):269-76.

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.

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.

Source

Rose Moss Laboratory for Parkinson's and Neurodegenerative Diseases, CSMC Burns and Allen Research Institute, Los Angeles, California, USA.

Abstract

The gene for spinocerebellar ataxia type 2 (SCA2) has been mapped to 12q24.1. A 1.1-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.

Comment in

The expanding world of ataxins. [Nat Genet. 1996]
The expanding world of ataxins.Zoghbi HY. Nat Genet. 1996 Nov; 14(3):237-8.

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Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT. [Nat Genet. 1996]
Identification of the spinocerebellar ataxia type 2 gene using a direct identification of repeat expansion and cloning technique, DIRECT.
Sanpei K, Takano H, Igarashi S, Sato T, Oyake M, Sasaki H, Wakisaka A, Tashiro K, Ishida Y, Ikeuchi T, et al. Nat Genet. 1996 Nov; 14(3):277-84.
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The expansion of the CAG repeat in ataxin-2 is a frequent cause of autosomal dominant spinocerebellar ataxia.
Lorenzetti D, Bohlega S, Zoghbi HY. Neurology. 1997 Oct; 49(4):1009-13.
Review Spinocerebellar ataxia type 1. [Semin Cell Biol. 1995]
Review Spinocerebellar ataxia type 1.
Zoghbi HY, Orr HT. Semin Cell Biol. 1995 Feb; 6(1):29-35.
Review [Molecular analyses of intergenerational instability of CAG repeat in SCA2 gene]. [Nihon Rinsho. 1999]
Review [Molecular analyses of intergenerational instability of CAG repeat in SCA2 gene].
Igarashi S, Tsuji S. Nihon Rinsho. 1999 Apr; 57(4):811-7.

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Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebell...
Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.
Nat Genet. 1996 Nov ;14(3):269-76.

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