Isolation of a cDNA encoding the human homolog of COX17, a yeast gene essential for mitochondrial copper recruitment
Isolation of a cDNA encoding the human homolog of COX17, a yeast gene essential for mitochondrial copper recruitment
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DOI：
10.1007/s004390050367
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发表时间：
1997-03-01
期刊：
影响因子：
5.3
通讯作者：
Tzagoloff, A
中科院分区：
文献类型：
--
作者：
Amaravadi, R;Glerum, DM;Tzagoloff, A
酿酒酵母的COX17基因编码一种细胞质蛋白，该蛋白对于功能性细胞色素氧化酶的表达是必需的。这种蛋白质涉及将铜靶向线粒体。为了确定Cox17 p是否存在于哺乳动物细胞中，用人cDNA表达文库转化携带COX17无效突变的酵母菌株。从转化中获得的所有呼吸活性克隆都携带一个共同的cDNA序列，该序列具有预测与酵母Cox17 p同源的产物的阅读框架。哺乳动物COX17同源物的克隆表明，编码的产物很可能在真核细胞中的铜募集中发挥作用。它在人类中的存在为细胞色素氧化酶的遗传缺陷提供了可能的靶点。
The COX17 gene of Saccharomyces cerevisiae codes for a cytoplasmic protein essential for the expression of functional cytochrome oxidase. This protein has been implicated in targeting copper to mitochondria. To determine if Cox17p is present in mammalian cells, a yeast strain carrying a null mutation in COX17 was transformed with a human cDNA expression library. All the respiratory competent clones obtained from the transformations carried a common cDNA sequence with a reading frame predicting a product homologous to yeast Cox17p. The cloning of a mammalian COX17 homolog suggests that the encoded product is likely to function in copper recruitment in eucaryotic cells in general. Its presence in humans provides a possible target for genetically inherited deficiencies in cytochrome oxidase.