Extended Data Fig. 6: Mutational profiles of post-zygotic mutations.
From: Mitochondrial DNA mosaicism in normal human somatic cells
a, Categories of PZrecurrent mutations (n = 32) based on types of homopolymer and region. b, Boxplots illustrating the median SBS7 mutation counts in 301 clones without m.414 T>G and 33 clones harboring m.414 T>G. Boxplots illustrate median values with IQRs and whiskers (1.5× IQRs). Two-sided Wilcoxon test. c, Boxplots illustrating PZsimple mtDNA mutation count in clones of DB8 (n = 47; 93 years old) and HC10 (n = 20; 37 years old). Boxplots illustrate median values with IQRs and whiskers (1.5× IQRs). Two-sided Wilcoxon test; NS, not significant. d, Linear correlation between SVAF and age across 31 individuals. The gray line and the shaded area represent the regression line and its 95% confidence interval. Vertical lines crossing each dot indicate the range of SVAF per clone in an individual. Clones with high UV exposure were excluded to remove UV radiation’s impact. Pearson’s correlation coefficient and P value are provided. Two-sided Pearson’s correlation. e, PZsimple mutation spectrum between clones with high and low UV exposure. UV exposure levels are determined by SBS7 mutation counts in the nuclear genome, with high exposure defined as over 10,000 mutations and low exposure as under 1,500 mutations. H, H strand; L, L strand.
