A mitochondrial tRNA modification enzyme, NSUN3, is found to be essential for embryonic development in mice, with whole-body knockout causing embryonic lethality and heart-specific Nsun3 knockout leading to heart aberration in older mice. Human NSUN3 mutations are associated with mitochondrial diseases.
Mitochondrial tRNA methyltransferase that mediates methylation of cytosine to 5-methylcytosine (m5C) at position 34 of mt-tRNA(Met). mt-tRNA(Met) methylation at cytosine34 takes place at the wobble position of the anticodon and initiates the formation of 5-formylcytosine (f5c) at this position. mt-tRNA(Met) containing the f5c modification at the wobble position enables recognition of the AUA codon in addition to the AUG codon, expanding codon recognition in mitochondrial translation.