Systematic detection of brain protein-coding genes under positive selection during primate evolution and their roles in cognition

Examples of brain disorder–associated protein-coding genes displaying specific divergence in hominins during primate evolution. (A) Representation of 16 genes with d_N/d_S > 1 in Homo sapiens and archaic hominins but d_N/d_S < 1 for other primates. (B) Representation of hominin-specific nonsynonymous variants of the AHI1 gene, showing the correspondence with the protein (dotted lines indicate exons); note how two variants lie within the WD40 functional domains. Red stars indicate variants (CADD > 5) relative to the ancestor present in Homo sapiens, Neanderthals, and Denisovans, but not in Pan troglodytes. (WD40) WD40 repeat; (SH3) SRC homology 3; (CC) coiled coils.