Figure 2.
Identification and qualification of the 4329C > G mutation at the junction between mitochondrial tRNAIle and tRNAGln genes. (A) Schema of the location of 4329C > G in the precursors of tRNAIle and tRNAGln genes. Cloverleaf structures of human mitochondrial tRNAIle and tRNAGln are derived from Florentz et al. [4]. Processing sites in the mitochondrial tRNAIle and tRNAGln precursors were determined for RNase Z. Arrow indicates the position of the 4329C > G mutation. (B) Partial sequence chromatograms of tRNAIle and tRNAGln genes from an affected individual (II-2) and a married-in control (II-1). Arrow indicates the location of the base changes at position 4329.