Nuclear localization of the spinocerebellar ataxia type 7 protein, ataxin-7

被引：82

作者：

Kaytor, MD

Duvick, LA

Skinner, PJ

Koob, MD

Ranum, LPW

Orr, HT ^{[1
]}

机构：

[1] Univ Minnesota, Inst Human Genet, Minneapolis, MN 55455 USA

[2] Univ Minnesota, Dept Lab Med & Pathol, Minneapolis, MN 55455 USA

[3] Univ Minnesota, Dept Neurol, Minneapolis, MN 55455 USA

[4] Univ Minnesota, Dept Biochem, Minneapolis, MN 55455 USA

来源：

HUMAN MOLECULAR GENETICS | 1999年 / 8卷 / 09期

关键词：

D O I：

10.1093/hmg/8.9.1657

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：

Spinocerebellar ataxia type 7 (SCA7) belongs to a group of neurological disorders caused by a CAG repeat expansion in the coding region of the. associated gene. To gain insight into the pathogenesis of SCA7 and possible functions of ataxin-7, we examined the subcellular localization of ataxin-7 in transfected COS-1 cells using SCA7 cDNA clones with different CAG repeat tract lengths, In addition to a diffuse distribution throughout the nucleus, ataxin-7 associated with the nuclear matrix and the nucleolus. The location of the putative SCA7 nuclear localization sequence (NLS) was confirmed by fusing an ataxin-7 fragment with the normally cytoplasmic protein chicken muscle pyruvate kinase, Mutation of this NLS prevented protein from entering the nucleus. Thus, expanded ataxin-7 may carry out its pathogenic effects in the nucleus by altering a matrix-associated nuclear structure and/or by disrupting nucleolar function.

引用

页码：1657 / 1664

页数：8

共 38 条

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