论文信息 - TRMT5 mutations are associated with features of complex hereditary spastic paraparesis

TRMT5 mutations are associated with features of complex hereditary spastic paraparesis

Mitochondrial DNA (mtDNA) encodes for 22 tRNAs (mt-tRNA) that undergo posttranscriptional modification.1,2 A specific nucleotide adjacent to the anticodon of mt-tRNA (position 37) is methylated (m1G37) to enhance translational efficiency/fidelity.3 The gene tRNA methyltransferase 5 (TRMT5) encodes a protein involved in m1G37 formation for some mitochondrial tRNAs3,4 and has been associated with combined oxidative phosphorylation deficiency 26 (COXPD26) (OMIM 616539).

M. Tarnopolsky | M. Tétreault | L. Brady

[1] Robert W. Taylor,et al. TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies , 2015, American journal of human genetics.

[2] Mark Helm,et al. Posttranscriptional RNA Modifications: playing metabolic games in a cell's chemical Legoland. , 2014, Chemistry & biology.

[3] H. Gamper,et al. Conservation of structure and mechanism by Trm5 enzymes , 2013, RNA.

[4] Takeo Suzuki,et al. Human mitochondrial tRNAs: biogenesis, function, structural aspects, and diseases. , 2011, Annual review of genetics.

[5] M. Helm,et al. tRNA stabilization by modified nucleotides. , 2010, Biochemistry.

[6] Henrik Bjørn Nielsen,et al. OligoWiz 2.0—integrating sequence feature annotation into the design of microarray probes , 2005, Nucleic Acids Res..

[7] Shamkant B. Navathe,et al. MITOMAP: a human mitochondrial genome database—2004 update , 2004, Nucleic Acids Res..