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

Cell reports - 3 May 2022

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

Abstract excerpt

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...

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PMID: 35508134
DOI: 10.1016/j.celrep.2022.110771

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