Article
The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.
Human molecular genetics - 1 Feb 2016
Jiang Pingping, Jin Xiaofen, Peng Yanyan, Wang Meng, Liu Hao, Liu Xiaoling, Zhang Zengjun, Ji Yanchun, Zhang Juanjuan, Liang Min, Zhao Fuxin, Sun Yan-Hong, Zhang Minglian, Zhou Xiangtian, Chen Ye, Mo Jun Qin, Huang Taosheng, Qu Jia, Guan Min-Xin
Abstract excerpt
Leber's hereditary optic neuropathy (LHON) is the most common mitochondrial disorder. Nuclear modifier genes are proposed to modify the phenotypic expression of LHON-associated mitochondrial DNA (mtDNA) mutations. By using an exome sequencing approach, we identified a LHON susceptibility allele (c.572G>T, p.191Gly>Val) in YARS2 gene encoding mitochondrial tyrosyl-tRNA synthetase, which interacts with m.11778G>A...
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