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