EXPRESSION ANALYSIS OF THE ATAXIN-1 PROTEIN IN TISSUES FROM NORMAL AND SPINOCEREBELLAR ATAXIA TYPE-1 INDIVIDUALS
EXPRESSION ANALYSIS OF THE ATAXIN-1 PROTEIN IN TISSUES FROM NORMAL AND SPINOCEREBELLAR ATAXIA TYPE-1 INDIVIDUALS
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DOI：
10.1038/ng0595-94
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发表时间：
1995-05-01
期刊：
影响因子：
30.8
通讯作者：
ZOGHBI, HY
中科院分区：
文献类型：
--
作者：
SERVADIO, A;KOSHY, B;ZOGHBI, HY
脊髓小脑型共济失调1型(SCA1)是一种常染色体显性遗传性神经退行性疾病，由编码蛋白ataxin-1中谷氨酰胺的CAG三核苷酸重复序列扩大引起。我们已经通过免疫印迹分析研究了这种扩展对ataxin-1的影响。野生型蛋白在正常和患病个体中都可检测到；然而，在SCA1个体的培养细胞和组织中检测到一种突变蛋白，其迁移特性随CAG重复序列的大小而变化。该蛋白在All正常脑区和SCA1脑区有核定位，但在小脑浦肯野细胞也观察到ataxin-1的胞浆定位。我们的数据表明，在SCAI中，扩展的等位基因被忠实地翻译成表面上具有正常稳定性和分布的蛋白质。
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.