Fig. 5. Approximate ages and consequences of fixed human-specific derived mutations.

(A) Ages of candidate human-specific functional mutations (nonsynonymous substitutions and mutations within regulatory element binding sites) inferred by SARGE within desert regions (free of ILS and admixture between archaic hominins and modern humans). (B) For interacting pairs of genes in the STRING database (35) for which candidate human-specific functional mutations affect both genes, the ages of the two mutations are shown. (C) For each candidate human-specific functional mutation, the length of the surrounding desert region (x axis) and inferred mutation age (y axis) are shown. Mutations for which SARGE did not infer a date (mutations within CpG sites or for which the ancestral allele was unknown) are shown in the bottom panel. Mutations were scored on the basis of length of desert and age; genes with regulatory mutations in the top 99.5th percentile of this distribution, or nonsynonymous mutations in the top 95th percentile, are shown, with nonsynonymous changes in bold.