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. Author manuscript; available in PMC: 2020 Dec 2.
Published in final edited form as: Cell Rep. 2020 Nov 17;33(7):108401. doi: 10.1016/j.celrep.2020.108401

Figure 5. Non-canonical Mutation Classes in Skin Cancers Are Associated with UV Exposure and Show Transcriptional Asymmetry.

Figure 5.

(A) Density of mutations for 140 sequenced cutaneous melanomas (Hayward et al., 2017) associated with the 5′ position of dipyrimidine (Dipyr.), 3′ position of dipyrimidine, or not associated with a dipyrimidine (No), as defined in Figure S1C. Inset shows data just for mutations in coding exons of melanoma driver genes.

(B) Ratio of mutation frequency per tumor for 140 cutaneous melanomas relative to 35 acral melanomas (Hayward et al., 2017). Dashed line indicates the median ratio across all mutation classes.

(C and D) Fraction of C>T mutations in genes occurring on the NTS relative to the TS for the indicated trinucleotide contexts in cutaneous squamous cell carcinomas (cSCCs) derived from XPC−/− patients is plotted. Transcriptional asymmetry is plotted for genes (C) highly expressed (top quartile) and (D) lowly expressed (bottom quartile) in keratinocytes. Statistical significance was determined using the chi-square test and Bonferroni correction for multiple hypothesis testing. **p < 0.001; *p < 0.05.

(E and F) Same as (C) and (D), except for T>C mutations.

(G and H) T>A mutations are significantly enriched on the TS relative to the NTS at NTA sequences (e.g., ATA, GTA, TTA) in XPC−/− cSCCs in genes highly expressed (top quartile; G), but not in low-expressed genes (bottom quartile; H).