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

Autor: Jinlong Huang, Yi Zhong, Alvin P. Makohon-Moore, Travis White, Maria Jasin, Mark A. Norell, Ward C. Wheeler, Christine A. Iacobuzio-Donahue
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Cell Reports, Vol 39, Iss 5, Pp 110771- (2022)
Druh dokumentu: article
ISSN: 2211-1247
DOI: 10.1016/j.celrep.2022.110771
Popis: 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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