Article
Taurine hypomodification underlies mitochondrial tRNATrp-related genetic diseases.
Nucleic acids research - 27 Nov 2024
Lu Jia-Li, Dai Yichen, Ji Kunqian, Peng Gui-Xin, Li Hong, Yan Chuanzhu, Shen Bin, Zhou Xiao-Long
Abstract excerpt
Escherichia coli MnmE and MnmG form a complex (EcMnmEG), generating transfer RNA (tRNA) 5-carboxymethylaminomethyluridine (cmnm5U) modification. Both cmnm5U and equivalent 5-taurinomethyluridine (τm5U, catalyzed by homologous GTPBP3 and MTO1) are found at U34 in several human mitochondrial tRNAs (hmtRNAs). Certain mitochondrial DNA (mtDNA) mutations, including m.3243A > G in tRNALeu(UUR) and m.8344A > G in...
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