Extended Data Fig. 3: Protein coding mutations due to mutational signatures of defective DNA polymerases.
From: Increased somatic mutation burdens in normal human cells due to defective DNA polymerases
(a) Mutation burden per intestinal crypt per year of life. For box and whisker plots, the central line, box and whiskers represent the median, inter-quartile range (IQR) from 1st to 3rd quartiles and 1.5 times the IQR. Elevated burdens of nonsense, missense and frameshift mutations are observed in crypts due to DNA polymerase associated mutational signatures. P-values result from two-sided Wilcoxon rank sum test. (b) Comparison of driver mutation burden of normal crypts from individuals with a germline DNA polymerase mutation (blue) and wild-type crypts (red). SBS mutations included are from n = 445 wild-type intestinal crypts28 and n = 109 DNA polymerase mutant crypts from the current cohort. (c) Comparison of driver mutations normalised by the total number of protein coding mutations. Normalised proportion of driver mutations is displayed on the x-axis. No statistically significant difference in the driver mutation burden between DNA polymerase mutant and DNA polymerase wild-type crypts is observed (Chi-squared test p > 0.05).
