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Article

Contribution of the tRNAIle 4317A→G mutation to the phenotypic manifestation of the deafness-associated mitochondrial 12S rRNA 1555A→G mutation.

The Journal of biological chemistry - 2 Mar 2018

Meng Feilong, He Zheyun, Tang Xiaowen, Zheng Jing, Jin Xiaofen, Zhu Yi, Ren Xiaoyan, Zhou Mi, Wang Meng, Gong Shasha, Mo Jun Qin, Shu Qiang, Guan Min-Xin

Abstract excerpt

The 1555A→G mutation in mitochondrial 12S rRNA has been associated with aminoglycoside-induced and non-syndromic deafness in many individuals worldwide. Mitochondrial genetic modifiers are proposed to influence the phenotypic expression of m.1555A→G mutation. Here, we report that a deafness-susceptibility allele (m.4317A→G) in the tRNAIle gene modulates the phenotype expression of m.1555A→G mutation. Strikingly,...

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Identifiers

PMID: 29348176
DOI: 10.1074/jbc.RA117.000530
PMCID: PMC5836119

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