Copy number variation and evolution in humans and chimpanzees
Copy number variation and evolution in humans and chimpanzees
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DOI：
10.1101/gr.082016.108
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发表时间：
2008-11-01
期刊：
影响因子：
7
通讯作者：
Redon, Richard
中科院分区：
文献类型：
--
作者：
Perry, George H.;Yang, Fengtang;Redon, Richard
拷贝数变异（CNVs）是人类表型多样性的基础，为基因复制和基因家族扩展提供了原材料。然而，我们对其进化意义的理解仍然有限。我们在一个人类微阵列平台上进行了比较基因组杂交，以确定30个人类和30个黑猩猩基因组中的CNV以及物种之间的固定拷贝数差异。我们发现，人类和黑猩猩的CNVs发生在orthopathological基因组区域远比预期的更频繁的机会，并与高度同源的染色体内节段重复的存在密切相关。通过调整群体遗传分析与拷贝数数据的使用，我们确定了功能类别的基因，可能已经进化的纯化或积极选择的拷贝数变化。特别是，复制和删除的基因与炎症反应和细胞增殖功能可能已被固定的积极选择和参与适应性表型分化的人类和黑猩猩。
Copy number variants (CNVs) underlie many aspects of human phenotypic diversity and provide the raw material for gene duplication and gene family expansion. However, our understanding of their evolutionary significance remains limited. We performed comparative genomic hybridization on a single human microarray platform to identify CNVs among the genomes of 30 humans and 30 chimpanzees as well as fixed copy number differences between species. We found that human and chimpanzee CNVs occur in orthologous genomic regions far more often than expected by chance and are strongly associated with the presence of highly homologous intrachromosomal segmental duplications. By adapting population genetic analyses for use with copy number data, we identified functional categories of genes that have likely evolved under purifying or positive selection for copy number changes. In particular, duplications and deletions of genes with inflammatory response and cell proliferation functions may have been fixed by positive selection and involved in the adaptive phenotypic differentiation of humans and chimpanzees.