Evidence for reduced BRCA2 functional activity in Homo sapiens after divergence from the chimpanzee-human last common ancestor

We performed a comparative analysis of human and 12 non-human primates to identify sequence variations in known cancer genes. We identified 395 human-specific fixed non-silent substitutions that emerged during evolution of human. Using bioinformatics analyses for functional consequences, we identified a number of substitutions that are predicted to alter protein function; one of these mutations is located at the most evolutionarily conserved domain of human BRCA2.

Automated summary

We compared human and 12 non-human primates to identify sequence variations in known cancer genes. We found 395 human-specific fixed non-silent substitutions that emerged during human evolution. Functional analysis identified several substitutions predicted to alter protein function, including one located in the most evolutionarily conserved domain of human BRCA2.