Table 1.
Reported effects of m.3243A>G mutation on tRNALeu(UUR) structure, processing and function.
| Effects of m.3243A>G mutation on tRNALeu(UUR) structure, processing and function | References |
|---|---|
| Disruption of the L-shaped tertiary structure and decreased stability of the mutant tRNA | Wittenhagen and Kelley (2002), Sohm et al. (2003) |
| Dimerization of mutated tRNAs | Wittenhagen and Kelley (2002), Roy et al. (2005) |
| Reduced tRNALeu(UUR) steady-state levels | Park et al. (2003) |
| Reduction of 3’-end processing efficiency | Koga et al. (1993), Levinger et al. (2004) |
| Accumulation of processing intermediates (RNA19S) | King et al. (1992) |
| Defect of uridine modification at the anticodon wobble position | Yasukawa et al. (2000), Kirino et al. (2005) |
| Decreased aminoacylation level and efficiency | Borner et al. (2000), Chomyn et al. (2000), Park et al. (2003), Sohm et al. (2003). |