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

被引：220

作者：

Ueno, S

Maruki, Y

Nakamura, M

Tomemori, Y

Kamae, K

Tanabe, H

Yamashita, Y

Matsuda, S

Kaneko, S

Sano, A ^{[1
]}

机构：

[1] Ehime Univ, Sch Med, Dept Neuropsychiat, Shigenobu, Ehime 79102, Japan

[2] Matsuyama Red Cross Hosp, Dept Neurol, Matsuyama, Ehime, Japan

[3] Ehime Univ, Sch Med, Dept Anat, Shigenobu, Ehime, Japan

[4] Hirosaki Univ, Sch Med, Dept Neuropsychiat, Hirosaki, Aomori 036, Japan

来源：

NATURE GENETICS | 2001年 / 28卷 / 02期

关键词：

D O I：

10.1038/88825

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Chorea-acanthocytosis is a neurodegenerative disorder with peripheral red cell acanthocytosis'. Linkage of chorea-acanthocytosis to chromosome 9q21 has been found(2). 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.

引用

页码：121 / 122

页数：2

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