Sacconi Sabrina, Trevisson Eva, Pistollato Francesca, Baldoin Maria Cristina, Rezzonico Roger, Bourget Isabelle, Desnuelle Claude, Tenconi Romano, Basso Giuseppe, DiMauro Salvatore, Salviati Leonardo
INSERM U638, Faculté de Médicine, Université de Nice, France.
Biochem Biophys Res Commun. 2005 Nov 25;337(3):832-9. doi: 10.1016/j.bbrc.2005.09.127. Epub 2005 Sep 29.
We identified the human homologues of yCOX18 and yCOX19, two Saccharomyces cerevisiae genes involved in the biogenesis of mitochondrial respiratory chain complexes. In yeast, these two genes are required for the expression of cytochrome c oxidase: Cox18p catalyses the insertion of Cox2p COOH-tail into the mitochondrial inner membrane, and Cox19p is probably involved in metal transport to the intermembrane space. Both hCox18p and hCox19p present significant amino acid identity with the corresponding yeast polypeptides and reveal highly conserved functional domains. In addition, their subcellular localization is analogous to that of the yeast proteins. These data strongly suggest that the human gene products share similar functions with their yeast homologues. These two COX-assembly genes represent new candidates for mutational analysis in patients with isolated COX deficiency of unknown etiology.
我们鉴定出了酿酒酵母中参与线粒体呼吸链复合物生物合成的两个基因yCOX18和yCOX19的人类同源物。在酵母中，这两个基因是细胞色素c氧化酶表达所必需的：Cox18p催化Cox2p羧基末端插入线粒体内膜，而Cox19p可能参与金属向膜间隙的转运。hCox18p和hCox19p与相应的酵母多肽均具有显著的氨基酸同源性，并显示出高度保守的功能域。此外，它们的亚细胞定位与酵母蛋白类似。这些数据强烈表明，人类基因产物与其酵母同源物具有相似的功能。这两个COX组装基因代表了病因不明的孤立性COX缺乏症患者突变分析的新候选基因。
