Antelope Chenling Xu, Marnetto Davide, Casey Fergal, Huerta-Sanchez Emilia
1 Computational Biology, University of California, Berkeley, Berkeley, California, USA.
2 Department of Molecular Biotechnology and Health Sciences, University of Torino, Turin, Italy.
Hum Biol. 2017 Jan;89(1):81-97. doi: 10.13110/humanbiology.89.1.05.
Access to a geographically diverse set of modern human samples from the present time and from ancient remains, combined with archaic hominin samples, provides an unprecedented level of resolution to study both human history and adaptation. The amount and quality of ancient human data continue to improve and enable tracking the trajectory of genetic variation over time. These data have the potential to help us redefine or generate new hypotheses of how human evolution occurred and to revise previous conjectures. In this article, we argue that leveraging all these data will help us better detail adaptive histories in humans. As a case in point, we focus on one of the most celebrated examples of human adaptation: the evolution of lactase persistence. We briefly review this dietary adaptation and argue that, effectively, the evolutionary history of lactase persistence is still not fully resolved. We propose that, by leveraging data from multiple populations across time and space, we will find evidence of a more nuanced history than just a simple selective sweep. We support our hypotheses with simulation results and make some cautionary notes regarding the use of haplotype-based summary statistics to estimate evolutionary parameters.
获取来自现代人类样本(涵盖当今不同地理位置以及古代遗迹),并结合古人类样本,为研究人类历史和适应性提供了前所未有的分辨率水平。古代人类数据的数量和质量持续提升,能够追踪基因变异随时间的轨迹。这些数据有可能帮助我们重新定义或生成关于人类进化如何发生的新假设,并修正先前的推测。在本文中,我们认为利用所有这些数据将有助于我们更详细地阐述人类的适应性历史。作为一个典型例子,我们聚焦于人类适应性最著名的例子之一:乳糖酶持久性的进化。我们简要回顾这种饮食适应性,并认为实际上,乳糖酶持久性的进化历史仍未完全明晰。我们提出,通过利用来自不同时空的多个群体的数据,我们将发现比简单的选择性清除更为细致入微的历史证据。我们用模拟结果支持我们的假设,并就使用基于单倍型的汇总统计量来估计进化参数提出一些警示。