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

Cell Rep. 2022 May 3;39(5):110771. doi: 10.1016/j.celrep.2022.110771.

Abstract

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.

Keywords: BRCA2; CHLCA; CP: Cancer; DSS1; RAD51; cancer; chimpanzee; driver gene; fertility; human evolution; primate.

MeSH terms

  • Animals
  • BRCA2 Protein / genetics
  • Evolution, Molecular
  • Humans
  • Mutation / genetics
  • Pan troglodytes* / genetics
  • Primates*
  • Proteins / metabolism

Substances

  • BRCA2 Protein
  • BRCA2 protein, human
  • Proteins