| 人线粒体tRNALeu(UUR)基因A3243G点突变对其亮氨酰化活性的影响 |
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| 引用本文： | 汪振诚,王学敏,金由辛,缪明永,韩伟国,焦炳华. 人线粒体tRNALeu(UUR)基因A3243G点突变对其亮氨酰化活性的影响[J]. 遗传, 2003, 25(4): 383-387 |
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| 作者姓名： | 汪振诚 王学敏 金由辛 缪明永 韩伟国 焦炳华 |
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| 作者单位： | 1.中国科学院上海生命科学院生物化学与细胞生物学研究所 分子生物学国家重点实验室,上海 200031;2.第二军医大学基础医学部生物化学与分子生物学教研室,上海 2004331.State Key Laboratory of Molecular Biology,Institute of Biochemistry and Cell Biology,Shanghai Institute for Biological Sciences,Chinese Academy of Sciences,Shanghai,200031,China;2.Department of Basic Medicine,Department of Biochemistry and Molecular Biology,Secondary Military Medical University,Shanghai 200433,China |
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| 基金项目： | 中国科学院重要方向项目资助(批准号:KSCX-2-2-04)，国家自然科学基金(30171030) |
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| 摘 要： | 化学法合成人线粒体野生型与A3243G点突变型tRNALeu(UUR)基因,体外转录生成相应的tRNALeu(UUR),表达并纯化人线粒体亮氨酰tRNA合成酶(mtLeuRS),用mtLeuRS催化野生型与突变型tRNALeu(UUR)与亮氨酸结合，分别检测两种类型tRNALeu(UUR)的氨酰化动力学常数。结果表明，野生型tRNALeu(UUR)的Km/Kcat仅为突变型tRNALeu(UUR)的63.9%，A3243G点突变使tRNALeu(UUR)接受亮氨酸的能力明显下降,提示此为A3243G点突变致病机制之一。Abstract:The wild-type and mutant-type human mitochondrial tRNALeu(UUR) genes were synthesized and transcribed in vitro with T7 RNA polymerase.The kinetic parameters of human mitochondrial leucyl-tRNA synthetase(mtLeuRS) were determined with wild-type and mutant-type human mitochondrial tRNALeu(UUR) respectively.The results show that the value of Km/Kcat of mtLeuRS for the mutant-type tRNALeu(UUR) is 63.9% as compared with the wild-type.Human mitochondrial tRNALeu(UUR) gene A3243G point mutant can remarkably reduce it′s aminoacylation activity,suggesting it would be one of the mechanisms that the mutation could produce such clinical phenotypes.
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| 关 键 词： | 异代换种质 多色基因组原位杂交 玉米 四倍体多年生玉米种 A3243G点突变 人线粒体tRNALeu(UUR) 人线粒体亮氨酰tRNA结合酶 Key words 体外转录 氨酰化 |
| 文章编号： | 0253-9772(2003)04-0383-05 |
| 修稿时间： | 2002-07-22 |
Effects of A3243G Point Mutation on Aminoacylation of Human Mitochondrial tRNALeu(UUR) |
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| WANG Zhen-Cheng,WANG Xue-Min JIN You-Xin,MIAO Ming-Yong,HAN Wei-Guo,JIAO Bing-Hua. Effects of A3243G Point Mutation on Aminoacylation of Human Mitochondrial tRNALeu(UUR)[J]. Hereditas, 2003, 25(4): 383-387 |
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| Authors: | WANG Zhen-Cheng WANG Xue-Min JIN You-Xin MIAO Ming-Yong HAN Wei-Guo JIAO Bing-Hua |
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| Affiliation: | State Key Laboratory of Molecular Biology, Institute of Biochemistry and Cell Biology, Shanghai Institute for Biological Sciences, Chinese Academy of Sciences, Shanghai,200031, China. wangzhencheng_@hotmail.com |
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| Abstract: | The wild-type and mutant-type human mitochondrial tRNALeu(UUR) genes were synthesized and transcribed in vitro with T7 RNA polymerase. The kinetic parameters of human mitochondrial leucyl-tRNA synthetase (mtLeuRS) were determined with wild-type and mutant-type human mitochondrial tRNALeu(UUR) respectively. The results show that the value of Km/Kcat of mtLeuRS for the mutant-type tRNALeu(UUR) is 63. 9% as compared with the wild-type. Human mitochondrial tRNALeu(UUR) gene A3243G point mutant can remarkably reduce it's aminoacylation activity,suggesting it would be one of the mechanisms that the mutation could produce such clinical phenotypes. |
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