Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.

doi:10.1086/506389

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Article

Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.

American journal of human genetics - 1 Aug 2006

Guan Min-Xin, Yan Qingfeng, Li Xiaoming, Bykhovskaya Yelena, Gallo-Teran Jaime, Hajek Petr, Umeda Noriko, Zhao Hui, Garrido Gema, Mengesha Emebet, Suzuki Tsutomu, del Castillo Ignacio, Peters Jennifer Lynne, Li Ronghua, Qian Yaping, Wang Xinjian, Ballana Ester, Shohat Mordechai, Lu Jianxin, Estivill Xavier, Watanabe Kimitsuna, Fischel-Ghodsian Nathan

Abstract excerpt

The human mitochondrial 12S ribosomal RNA (rRNA) A1555G mutation has been associated with aminoglycoside-induced and nonsyndromic deafness in many families worldwide. Our previous investigation revealed that the A1555G mutation is a primary factor underlying the development of deafness but is not sufficient to produce a deafness phenotype. However, it has been proposed that nuclear-modifier genes modulate the...

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PMID: 16826519
DOI: 10.1086/506389
PMCID: PMC1559489

Genes

TRMU

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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