Evidence for reduced BRCA2 functional activity in Homo sapiens after divergence from the chimpanzee-human last common ancestor
oleh: Jinlong Huang, Yi Zhong, Alvin P. Makohon-Moore, Travis White, Maria Jasin, Mark A. Norell, Ward C. Wheeler, Christine A. Iacobuzio-Donahue
| Format: | Article |
|---|---|
| Diterbitkan: | Elsevier 2022-05-01 |
Deskripsi
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.