Disease-related mutations in cytochrome c oxidase studied in yeast and bacterial models.
Disease-related mutations in cytochrome c oxidase studied in yeast and bacterial models.
复制标题
在酵母和细菌模型中研究的细胞色素 C 氧化酶的疾病相关突变。
DOI：
10.1046/j.1432-1033.2003.03482.x
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发表时间：
2003
期刊：
影响因子：
--
通讯作者：
Meunier,Brigitte
中科院分区：
文献类型：
--
作者：
Bratton,Melyssa;Mills,Denize;Castleden,CKate;Hosler,Jonathan;Meunier,Brigitte
线粒体细胞色素氧化酶是呼吸链的关键质子动力组分。据报道，该复合物的神经编码亚基的突变与一系列疾病有关。在这项工作中，我们使用酵母和细菌突变体来评估亚基1（L196 I）和亚基3（G78 S，A200 T，ΔF94-F98，F251 L和W249 Stop）中人类突变的影响。 虽然在亚基3的C末端的终止突变和短缺失是高度有害的，并且消除了线粒体酶的组装，但四个错义突变对呼吸功能几乎没有影响。 对球形红细菌G78 S、A200 T和ΔF94-F98的分析进一步证实了上述结果。我们在这项研究中表明，酵母和细菌模型的组合是一个有用的工具，以阐明细胞色素氧化酶的催化核心突变的影响。酵母酶与人类酶高度相似，并提供了一个很好的模型来评估报告的突变的有害影响。细菌系统允许对突变对酶的催化核心的功能和组装的影响进行详细的生化分析。
Mitochondrial cytochromecoxidase is a key protonmotive component of the respiratory chain. Mutations in the mitochondrially‐encoded subunits of the complex have been reported in association with a range of diseases. In this work we used yeast and bacterial mutants to assess the effect of human mutations in subunit 1 (L196I) and subunit 3 (G78S, A200T, ΔF94–F98, F251L and W249Stop). While the stop mutation at the C‐terminus of subunit 3 and the short deletion were highly deleterious and abolished the assembly of the mitochondrial enzyme, the four missense mutations caused little or no effect on the respiratory function. Detailed analysis of G78S, A200T and ΔF94–F98 inRhodobacter sphaeroidesconfirmed and extended these observations. We show in this study that the combination of yeast and bacterial models is a useful tool to elucidate the effect of mutations in the catalytic core of cytochrome oxidase. The yeast enzyme is highly similar to the human enzyme and provides a good model to assess the deleterious effect of reported mutations. The bacterial system allows detailed biochemical analysis of the effect of the mutations on the function and assembly of the catalytic core of the enzyme.
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[22] 红螺菌科遗传技术
DOI：
--
发表时间：
1991
期刊：
影响因子：
--
作者：
T. Donohue;S. Kaplan
通讯作者：
S. Kaplan
影响因子：
30.8
作者：
Keightley, JA;Hoffbuhr, KC;Kennaway, NG
通讯作者：
Kennaway, NG
影响因子：
2.8
作者：
MANFREDI, G;SCHON, EA;DIMAURO, S
通讯作者：
DIMAURO, S
影响因子：
3.5
作者：
Varlamov, DA;Kudin, AP;Kunz, WS
通讯作者：
Kunz, WS
影响因子：
4.8
作者：
Mills, DA;Schmidt, B;Ferguson-Miller, S
通讯作者：
Ferguson-Miller, S