Evidence for reduced BRCA2 functional activity in Homo sapiens after divergence from the chimpanzee-human last common ancestor.
Evidence for reduced BRCA2 functional activity in Homo sapiens after divergence from the chimpanzee-human last common ancestor.
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DOI：
10.1016/j.celrep.2022.110771
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发表时间：
2022-05
期刊：
影响因子：
8.8
通讯作者：
Jinlong Huang;Y. Zhong;Alvin P. Makohon-Moore;T. White;M. Jasin;M. Norell;W. Wheeler;C. Iacobuzio-Dona
中科院分区：
文献类型：
--
作者：
Jinlong Huang;Y. Zhong;Alvin P. Makohon-Moore;T. White;M. Jasin;M. Norell;W. Wheeler;C. Iacobuzio-Dona
我们对人类和12个非人类灵长类动物进行了比较分析，以确定已知癌症基因的序列变异。我们确定了在人类进化过程中出现的395个人类特有的固定非沉默替换。利用生物信息学对功能结果的分析，我们确定了一些预计会改变蛋白质功能的替换；其中一个突变位于人类BRCA2的进化最保守的区域。
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.