Cell Reports (May 2022)

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

  • Jinlong Huang,
  • Yi Zhong,
  • Alvin P. Makohon-Moore,
  • Travis White,
  • Maria Jasin,
  • Mark A. Norell,
  • Ward C. Wheeler,
  • Christine A. Iacobuzio-Donahue

Journal volume & issue
Vol. 39, no. 5
p. 110771

Abstract

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Summary: 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.

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