EXPRESSION ANALYSIS OF THE ATAXIN-1 PROTEIN IN TISSUES FROM NORMAL AND SPINOCEREBELLAR ATAXIA TYPE-1 INDIVIDUALS

被引：254

作者：

SERVADIO, A

KOSHY, B

ARMSTRONG, D

ANTALFFY, B

ORR, HT

ZOGHBI, HY

机构：

[1] BAYLOR COLL MED,DEPT PEDIAT,HOUSTON,TX 77030

[2] BAYLOR COLL MED,DEPT MOLEC & HUMAN GENET,HOUSTON,TX 77030

[3] BAYLOR COLL MED,DEPT PATHOL,HOUSTON,TX 77030

[4] UNIV MINNESOTA,INST HUMAN GENET,MINNEAPOLIS,MN 55455

[5] UNIV MINNESOTA,DEPT LAB MED & PATHOL,MINNEAPOLIS,MN 55455

[6] UNIV MINNESOTA,DEPT BIOCHEM,MINNEAPOLIS,MN 55455

来源：

NATURE GENETICS | 1995年 / 10卷 / 01期

关键词：

D O I：

10.1038/ng0595-94

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant neurodegenerative disorder caused by expansion of a CAG trinucleotide repeat which codes for glutamine in the protein ataxin-1. We have investigated the effect of this expansion on ataxin-1 by immunoblot analysis. The wild-type protein is detected in both normal and affected individuals; however, a mutant protein which varies in its migration properties according to the size of the CAG repeat is detected in cultured cells and tissues from SCA1 individuals. The protein has a nuclear localization in ail normal and SCA1 brain regions examined but a cytoplasmic localization of ataxin-1 was also observed in cerebellar Purkinje cells. Our data show that in SCAI, the expanded alleles are faithfully translated into proteins of apparently normal stability and distribution.

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页码：94 / 98

页数：5

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