Figure 4.
Mutations in the mtDNA control region display a non-uniform distribution and constraints at some loci. The observed per bin mutation frequency (blue line) and simulated distribution of data (dotted black line= mean, gray shading = 99.975% confidence interval) for C→T, G→A, T→C and A→G mutations. Each data point denotes a 50bp bin. Data points outside the shaded areas are either over- or under-represented compared to random chance. Mouse mtDNA structure and coordinates are shown on the x-axis and are the same for all panels (orange = mt-Rnr1 gene, purple= Cytb gene, dark blue= tRNA genes, green= control region, red= ETAS1&2; yellow= CSB1–3).