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
Qingfeng YanMin-Xin Guan

Abstract

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 has been elucidated. The human TRMU gene containing 11 exons encodes a 421 residue protein with a strong homology to the TRMU-like proteins of bacteria and other homologs. TRMU is ubiquitously expressed in various tissues, but abundantly in tissues with high metabolic rates including heart, liver, kidney, and brain. Immunofluorescence analysis of human 143B cells expressing TRMU-GFP fusion protein demonstrated that the human Trmu localizes and functions in mitochondrion. Furthermore, we show that in families with the deafness-associated 12S rRNA A1491G mutation there is highly suggestive linkage and linkage disequilibrium between microsatellite markers adjacent to TRMU and the presence of deafness. These observations suggest that human TRMU may modulate the phenotypic manifestation of the deafness-associated mitochondri...Continue Reading

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Citations

Jan 3, 2007·Cell Research·Guangqian XingXin Cao
Oct 15, 2008·Molecular and Cellular Biology·Magda VillarroyaM-Eugenia Armengod
Mar 21, 2013·Gene·Ling-Feng LuoWan-Xi Yang
Dec 15, 2010·Journal of Inherited Metabolic Disease·Ulrike ScharaRita Horvath
Jun 2, 2009·Molecular Genetics and Metabolism·Yelena BykhovskayaNathan Fischel-Ghodsian
Apr 3, 2009·Biochemical and Biophysical Research Communications·Vanessa Cristine Sousa de MoraesEdi Lúcia Sartorato
Jun 20, 2006·Biochemical and Biophysical Research Communications·Guangqian XingXin Cao
May 3, 2006·Biochemical and Biophysical Research Communications·Guangqian XingXin Cao
Dec 17, 2011·Biochimica Et Biophysica Acta·Brooke E Christian, Linda L Spremulli
Sep 12, 2013·Mitochondrial DNA·Qingzhang ZhuXianfang Lin
May 29, 2015·Journal of Inherited Metabolic Disease·Lindsey Van HauteMichal Minczuk
Feb 12, 2008·Biochemical and Biophysical Research Communications·M R ChaigN M Gerez
Mar 17, 2009·Biochemical and Biophysical Research Communications·H HumanS Bardien
Nov 17, 2012·Nature Reviews. Genetics·Eric A SchonMichio Hirano
Mar 13, 2009·Acta Biochimica Et Biophysica Sinica·Xiaoyu ZhuQingfeng Yan
Nov 26, 2008·International Journal of Audiology·L Hema Bindu, P P Reddy

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