Article
Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations.
Biochemical and biophysical research communications - 21 Apr 2006
Yan Qingfeng, Bykhovskaya Yelena, Li Ronghua, Mengesha Emebet, Shohat Mordechai, Estivill Xavier, Fischel-Ghodsian Nathan, Guan Min-Xin
Abstract excerpt
Nuclear modifier genes have been proposed to modulate the phenotypic manifestation of human mitochondrial 12S rRNA A1491G mutation associated with deafness in many families world-wide. Here we identified and characterized the putative nuclear modifier gene TRMU encoding a highly conserved mitochondrial protein related to tRNA modification. A 1937bp TRMU cDNA has been isolated and the genomic organization of TRMU...
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