编码新发现的蛋白质—— chorein 的基因在舞蹈病 - 棘红细胞增多症中发生突变。

The gene encoding a newly discovered protein, chorein, is mutated in chorea-acanthocytosis.

作者信息

Ueno S, Maruki Y, Nakamura M, Tomemori Y, Kamae K, Tanabe H, Yamashita Y, Matsuda S, Kaneko S, Sano A

机构信息

Department of Neuropsychiatry, Ehime University School of Medicine, Shigenobu, Ehime, Japan.

出版信息

Nat Genet. 2001 Jun;28(2):121-2. doi: 10.1038/88825.

DOI:10.1038/88825

PMID:11381254

Abstract

Chorea-acanthocytosis is a neurodegenerative disorder with peripheral red cell acanthocytosis. Linkage of chorea-acanthocytosis to chromosome 9q21 has been found. We refined the locus region and identified a previously unknown, full-length cDNA encoding a presumably structural protein, which we called chorein. We found a deletion in the coding region of the cDNA leading to a frame shift resulting in the production of a truncated protein in both alleles of patients and in single alleles of obligate carriers.

摘要

舞蹈病-棘红细胞增多症是一种伴有外周血红细胞棘形改变的神经退行性疾病。现已发现舞蹈病-棘红细胞增多症与9号染色体q21区域连锁。我们对该基因座区域进行了精细定位，并鉴定出一个此前未知的全长cDNA，它编码一种可能为结构蛋白的物质，我们将其命名为舞蹈病蛋白。我们发现该cDNA编码区存在一个缺失，导致读框移位，从而在患者的两个等位基因以及必然携带者的单个等位基因中均产生截短蛋白。