Figure 3

Specific codons in BRCA1 have experienced positive selection during primate speciation. A. Shown are the ten codons that have evolved under positive selection (dN/dS > 1) in primates with a P > 0.85. Codons with a P > 0.95 are indicated with asterisks. The amino acids encoded at these positions in human BRCA1 are shown, along with those found in hominoids, old world monkeys, and new world monkeys. In addition, human SNPs and disease mutations also found at these sites are listed. X refers to a single nucleotide mutation that results in a termination codon. B. A domain diagram of BRCA1 is shown with the RING domain, coiled-coil domain (CC), and BRCT domains. The triangles at the bottom represent sites of positive selection (grey - P > 0.85, black - P > 0.95). The 12 most common human variants recorded in the BIC are shown at the top of the diagram as stars. The black stars indicate disease-causing mutations, white stars represent variants with no known clinical significance, and grey stars are those with unknown significance.