Figure 5

C → T transitions are overrepresented in the Polg mutant mice.

(A) and (B) The percentage of transition (C → T and T → C) and transversion mutations detected in individual samples derived from mouse liver and brain respectively. (C) and (D) C → T transitions identified in Polg mutant mice tend to increase the hydrophobicity of corresponding amino acids. Briefly, C → T transitions were compared with other types of mutations (O) in their ability to alter amino acid property. For individual mutations identified by mitoRCA-seq, the properties of the corresponding amino acids in the reference genome are shown in rows and the amino acid properties resulting from individual mutations are shown in column. Enrichment scores (Z-score) were then computed for all possible combinations. For each biological replicate of a given tissue, enrichment analyses were performed separately for wild-type (W) and mutant (M) mice and the results are shown in a combined heat map. Two plots are shown based on the results derived from the brain (C) and liver (D) of the wild-type (WT1) and Polg mutant (Mut1) mice.