Document Detail

Moderate expansion of a normally biallelic trinucleotide repeat in spinocerebellar ataxia type 2.
MedLine Citation:
PMID:  8896555     Owner:  NLM     Status:  MEDLINE    
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.
S M Pulst; A Nechiporuk; T Nechiporuk; S Gispert; X N Chen; I Lopes-Cendes; S Pearlman; S Starkman; G Orozco-Diaz; A Lunkes; P DeJong; G A Rouleau; G Auburger; J R Korenberg; C Figueroa; S Sahba
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Nature genetics     Volume:  14     ISSN:  1061-4036     ISO Abbreviation:  Nat. Genet.     Publication Date:  1996 Nov 
Date Detail:
Created Date:  1996-12-16     Completed Date:  1996-12-16     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9216904     Medline TA:  Nat Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  269-76     Citation Subset:  IM    
Rose Moss Laboratory for Parkinson's and Neurodegenerative Diseases, CSMC Burns and Allen Research Institute, Los Angeles, California, USA.
Data Bank Information
Bank Name/Acc. No.:
GENBANK/U70323;  U70670;  U70671
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MeSH Terms
Amino Acid Sequence
Base Sequence
Chromosome Mapping
Chromosomes, Human, Pair 12*
DNA, Complementary / isolation & purification
Gene Expression Regulation
Molecular Sequence Data
Nerve Tissue Proteins
Proteins / genetics*
Sequence Analysis, DNA
Sequence Homology, Amino Acid
Spinocerebellar Degenerations / genetics*
Trinucleotide Repeats*
Reg. No./Substance:
0/DNA, Complementary; 0/Nerve Tissue Proteins; 0/Proteins; 0/SCA2 protein
Comment In:
Nat Genet. 1996 Nov;14(3):237-8   [PMID:  8896544 ]

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