title: [Effects of A3243G point mutation on aminoacylation of human mitochondrial tRNALeu(UUR)].
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.
authors.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
authors.forename: Zhen-Cheng
authors.initials: ZC
authors.lastname: Wang
authors.forename: Xue-Min
authors.initials: XM
authors.lastname: Wang
authors.forename: You-Xin
authors.initials: YX
authors.lastname: Jin
authors.forename: Ming-Yong
authors.initials: MY
authors.lastname: Miao
authors.forename: Wei-Guo
authors.initials: WG
authors.lastname: Han
authors.forename: Bing-Hua
authors.initials: BH
authors.lastname: Jiao