Characterization of the mt-Ti mutation.
A) Chromatogram showing the m.3739G>A mutation within the mt-Ti gene in mB77 cells. B) Conservation of mt-tRNAIle primary sequence in 150 studied mammals (http://mamit-trna.u-strasbg.fr, 2007). Percentage indicates the degree of conservation, Y (pyrimidines) R (purines). C, D) Proposed secondary structure of the tRNAIle in mouse (C) and human cells (D). The mutant nucleotides replace the wild-type ones in the anticodon loop (arrows). Wild-type and mutant nucleotides are represented in magenta and the GAU anticodon sequence is in red. Other mutations previously reported within the anticodon loop, are shown (D). E) RFLP analysis of the m.3739G>A mutation in both mB77 and the transmitochondrial clone mB77p18. The presence of the mutation creates an extra recognition site for Tru9I.