美国华盛顿大学Evan E. Eichler课题组在研究中取得进展。他们发现拷贝数变异（CNV）的适应性古老基因渗入和先前未知的人类基因。该研究于2019年10月18日发表于《科学》。

研究人员发现分层的CNV与美拉尼西亚人的正选择特征显著相关，并为分别来自丹尼索瓦人和尼安德特人的16p11.2和8p21.3染色体上的大量CNV的适应性渗入提供了证据。使用长读序列数据，研究人员重建了这些多态性的结构和复杂的进化历史，并表明这两种基因均编码大多数人群中不存在的正选择基因。

这项研究结果表明，起源于古人类并渗入现代人类的大量CNV在当地人口适应中发挥了重要作用，并且代表了尚未充分研究的大规模遗传变异的来源。

据介绍，CNV比单核苷酸变异承受更大的选择压力，但尚未系统研究其在古老基因渗入和适应中的作用。

附：英文原文

Title: Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes

Author: PingHsun Hsieh, Mitchell R. Vollger, Vy Dang, David Porubsky, Carl Baker, Stuart Cantsilieris, Kendra Hoekzema, Alexandra P. Lewis, Katherine M. Munson, Melanie Sorensen, Zev N. Kronenberg, Shwetha Murali, Bradley J. Nelson, Giorgia Chiatante, Flavia Angela Maria Maggiolini, Hélène Blanché, Jason G. Underwood, Francesca Antonacci, Jean-Franois Deleuze, Evan E. Eichler

Issue&Volume: 2019/10/18

Abstract: 

Copy number variants (CNVs) are subject to stronger selective pressure than single-nucleotide variants, but their roles in archaic introgression and adaptation have not been systematically investigated. We show that stratified CNVs are significantly associated with signatures of positive selection in Melanesians and provide evidence for adaptive introgression of large CNVs at chromosomes 16p11.2 and 8p21.3 from Denisovans and Neanderthals, respectively. Using long-read sequence data, we reconstruct the structure and complex evolutionary history of these polymorphisms and show that both encode positively selected genes absent from most human populations. Our results collectively suggest that large CNVs originating in archaic hominins and introgressed into modern humans have played an important role in local population adaptation and represent an insufficiently studied source of large-scale genetic variation.

DOI: 10.1126/science.aax2083

Source: https://science.sciencemag.org/content/366/6463/eaax2083