Figure 5
Detection of UV-induced somatic mutations in post-mortem epithelial tissues. (a–c) Deep (1000 ×) targeted sequencing results. (a,b) Bar plots representing the total number of single nucleotide variants (a) or dinucleotide variant (DNVs; b), detected in epidermal skin (12 samples). Substitutions are stratified according to the occurrence of the pyrimidine on the coding (untranscribed) or template (transcribed) strand as indicated. Transcriptional strand bias tested using Poisson exact test. Bars are colored by strand as indicated and following the number of substitutions occurring in a dipyrimidine (dark, % indicated) or other sequence (light) context. (c) Proportion of known mutational signatures retrieved by analyzing the cosine similarity between the distribution of 96 trinucleotide substitution types and 30 known COSMIC mutational signatures. Single base substitution signatures (SBS) 4 and 7 colored as indicated. (d,e) SiMSen sequencing of well-known UV hotspot mutations in RPL13A and DPH3 promoters. (d) Data from PM02 for illustration, 2 hot spots each as indicated by grey shaded nucleotides, sequence indicated in orange. (e) Boxplot summarizes results for both study subjects, all hotspots and sample locations as indicated. Boxplot indicates median values and lower/upper quartiles with whiskers extending to 1.5× the interquartile range. Dots show individual data points.
