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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Gene Review: 

TRMU  -  tRNA 5-methylaminomethyl-2-thiouridylate...

Homo sapiens

Synonyms: FLJ10140, MTO2, MTO2 homolog, MTU1, Mitochondrial tRNA-specific 2-thiouridylase 1, ...
 
 
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High impact information on TRMU

  • Functional analysis showed that this mutation did not affect importation of TRMU precursors into mitochondria [1].
  • In 1990, 17 adult Rhipicephalus turanicus ticks were collected in the south of France. Two spotted fever group rickettsiae, Mtu1 and Mtu5, were isolated from the hemolymphs of two of these ticks by the centrifugation shell-vial technique by using HEL cells [2].
  • 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 [3].
  • 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 [3].
 

Analytical, diagnostic and therapeutic context of TRMU

References

  1. Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations. Guan, M.X., Yan, Q., Li, X., Bykhovskaya, Y., Gallo-Teran, J., Hajek, P., Umeda, N., Zhao, H., Garrido, G., Mengesha, E., Suzuki, T., del Castillo, I., Peters, J.L., Li, R., Qian, Y., Wang, X., Ballana, E., Shohat, M., Lu, J., Estivill, X., Watanabe, K., Fischel-Ghodsian, N. Am. J. Hum. Genet. (2006) [Pubmed]
  2. Comparison of serologic typing, sodium dodecyl sulfate-polyacrylamide gel electrophoresis protein analysis, and genetic restriction fragment length polymorphism analysis for identification of rickettsiae: characterization of two new rickettsial strains. Beati, L., Finidori, J.P., Gilot, B., Raoult, D. J. Clin. Microbiol. (1992) [Pubmed]
  3. 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. Yan, Q., Bykhovskaya, Y., Li, R., Mengesha, E., Shohat, M., Estivill, X., Fischel-Ghodsian, N., Guan, M.X. Biochem. Biophys. Res. Commun. (2006) [Pubmed]
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