Figure 4

Codons in exon 11 of BRCA2 that have experienced positive selection in primates. A. 5 codons in exon 11 of BRCA2 were found to be under positive selection in primates. All sites had a P > 0.95 (indicated with asterisks) except for S1008 (P = 0.9). The amino acid encoded by human BRCA2 at each of these codons is shown. The amino acids encoded by hominoids, old world monkeys, and new world monkeys are also shown. Human SNPs and disease mutations deposited to the BIC are listed at the bottom. B. A domain diagram of BRCA2 is depicted with the 8 BRC repeats, helical DNA binding domain (helical DBD), OB folds, and nuclear localization signals (NLS). Only exon 11 was sequenced in this study (section in white). The sites of positive selection are represented as triangles at the bottom of the diagram. The 11 most common protein-altering variants in the BIC are marked as stars at their respective locations at the top. Black stars correspond to disease-causing mutations, white stars are variants with no known clinical significance, and grey stars are positions with unknown significance.