Article
Contribution of a mitochondrial tyrosyl-tRNA synthetase mutation to the phenotypic expression of the deafness-associated tRNASer(UCN) 7511A>G mutation.
The Journal of biological chemistry - 13 Dec 2019
Fan Wenlu, Zheng Jing, Kong Wanzhong, Cui Limei, Aishanjiang Maerhaba, Yi Qiuzi, Wang Min, Cang Xiaohui, Tang Xiaowen, Chen Ye, Mo Jun Qin, Sondheimer Neal, Ge Wanzhong, Guan Min-Xin
Abstract excerpt
Nuclear modifier genes have been proposed to modify the phenotypic expression of mitochondrial DNA mutations. Using a targeted exome-sequencing approach, here we found that the p.191Gly>Val mutation in mitochondrial tyrosyl-tRNA synthetase 2 (YARS2) interacts with the tRNASer(UCN) 7511A>G mutation in causing deafness. Strikingly, members of a Chinese family bearing both the YARS2 p.191Gly>Val and m.7511A>G...
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