학술논문
Evidence for reduced BRCA2 functional activity in Homo sapiensafter divergence from the chimpanzee-human last common ancestor
Document Type
Article
Author
Source
Cell Reports; May 2022, Vol. 39 Issue: 5
Subject
Language
ISSN
22111247
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.