(A) Venn diagram showing DNA damage response as the most highly enriched functional category in the intersection between skin eSNPs and summer shortwave radiation (sunlight)–associated local-adaptation SNPs. The seven DNA damage response genes in this intersection are listed, with eSNPs that affect their expression levels in skin. Circles and overlap are not to scale. (B) The derived allele frequencies of one SNP in the skin eSNP/summer sunlight–associated SNP intersection (rs10458216) plotted against summer shortwave radiation flux in 58 worldwide human populations, split into four geographic regions. The derived allele is associated with lower expression of EEF1E1 (also known as AIMP3) (a tumor-suppressor gene that activates the DNA damage response in response to UV exposure and other DNA-damaging agents) (Kwon et al. 2011) in skin. Population names and additional data are shown in Supplemental Figure 6.
