Conserved domains and lack of evidence for polyglutamine length polymorphism in the chicken homolog of the Machado-Joseph disease gene product ataxin-3

被引:4
作者
Linhartová, I
Repitz, M
Dráber, P
Nemec, M
Wiche, G
Propst, F
机构
[1] Univ Vienna, Vienna Bioctr, Inst Biochem & Mol Cell Biol, A-1030 Vienna, Austria
[2] Acad Sci Czech Republ, Inst Mol Genet, CR-14220 Prague 4, Czech Republic
来源
BIOCHIMICA ET BIOPHYSICA ACTA-GENE STRUCTURE AND EXPRESSION | 1999年 / 1444卷 / 02期
基金
奥地利科学基金会;
关键词
machado-Joseph disease; ataxin-3; microsatellite; CAG triplet repeat; polyglutamine; polymorphism;
D O I
10.1016/S0167-4781(99)00004-4
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
Ataxin-3 is a protein of unknown function which is mutated in Machado-Joseph disease by expansion of a genetically unstable CAG repeat encoding polyglutamine. By analysis of chicken ataxin-3 we were able to identify four conserved domains of the protein and detected widespread expression in chicken tissues. In the first such analysis in a non-primate species we found that in contrast to primates, the chicken CAG repeat is short and genetically stable. (C) 1999 Published by Elsevier Science B.V. All rights reserved.
引用
收藏
页码:299 / 305
页数:7
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