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.

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页码：299 / 305

页数：7

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