Human adaptation and evolution by segmental duplication.
Human adaptation and evolution by segmental duplication.
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DOI：
10.1016/j.gde.2016.08.001
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发表时间：
2016-12
影响因子：
4
通讯作者：
Eichler EE
中科院分区：
文献类型：
--
作者：
Dennis MY;Eichler EE
复制是新基因功能产生的主要力量，并为大规模结构变异提供了基础。对数千个基因组的分析表明，人类和类人猿在最近的片段复制中，在内容和结构上的遗传差异比任何其他常染色质区域都要大。新的人类特异性重复基因ARHGAP 11B和SRGAP 2C最近被描述为在新皮层扩张和神经元棘密度增加中具有潜在作用。大片段重复和它们促进的结构变异也经常在人类群体之间分层，其中一个子集受到正选择。最近的复制对人类进化和适应的影响才刚刚开始意识到，因为新技术加强了它们的发现和准确的基因分型。
Duplications are the primary force by which new gene functions arise and provide a substrate for large-scale structural variation. Analysis of thousands of genomes shows that humans and great apes have more genetic differences in content and structure over recent segmental duplications than any other euchromatic region. Novel human-specific duplicated genes, ARHGAP11B and SRGAP2C, have recently been described with a potential role in neocortical expansion and increased neuronal spine density. Large segmental duplications and the structural variants they promote are also frequently stratified between human populations with a subset being subjected to positive selection. The impact of recent duplications on human evolution and adaptation is only beginning to be realized as new technologies enhance their discovery and accurate genotyping.