Analysis of functional domains of Wilson disease protein (ATP7B) in Saccharomyces cerevisiae

被引：88
作者：
Iida, M
Terada, K
Sambongi, Y
Wakabayashi, T
Miura, N
Koyama, K
Futai, M
Sugiyama, T
机构：
[1] Akita Univ, Sch Med, Dept Biochem, Akita 0108543, Japan
[2] Akita Univ, Sch Med, Dept Surg, Akita 0108543, Japan
[3] Osaka Univ, Inst Sci & Ind Res, Ibaraki, Osaka 567, Japan
来源：
FEBS LETTERS | 1998年 / 428卷 / 03期
关键词：
ATP7B; copper; Wilson disease; yeast Ccc2 protein;
D O I：
10.1016/S0014-5793(98)00546-8
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：
Wilson disease is a genetic disorder of copper metabolism characterized by the toxic accumulation of copper in the liver. The ATP7B gene, which encodes a copper transporting P-type ATPase, is defective in patients with Wilson disease. To investigate the function of ATP7B, wild type or mutated ATP7B cDNA was introduced into a yeast strain larking the CCC2 gene (Delta ccc2), the yeast homologue of of ATP7B. Wild type and the H1069Q mutant could rescue Delta ccc2, however, the N1270S mutant could not, reflecting phenotypic variability of Wilson disease. In addition, the mutant containing only the sixth copper binding domain could rescue Delta ccc2, indicating its functional importance. (C) 1998 Federation of European Biochemical Societies.
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页码：281 / 285
页数：5
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