Mathieson Iain
Department of Genetics, Perelman School of Medicine, University of Pennsylvania, United States.
Curr Opin Genet Dev. 2020 Jun;62:97-104. doi: 10.1016/j.gde.2020.06.003. Epub 2020 Aug 1.
Over the past few years several methodological and data-driven advances have greatly improved our ability to robustly detect genomic signatures of selection in humans. New methods applied to large samples of present-day genomes provide increased power, while ancient DNA allows precise estimation of timing and tempo. However, despite these advances, we are still limited in our ability to translate these signatures into understanding about which traits were actually under selection, and why. Combining information from different populations and timescales may allow interpretation of selective sweeps. Other modes of selection have proved more difficult to detect. In particular, despite strong evidence of the polygenicity of most human traits, evidence for polygenic selection is weak, and its importance in recent human evolution remains unclear. Balancing selection and archaic introgression seem important for the maintenance of potentially adaptive immune diversity, but perhaps less so for other traits.
在过去几年中,一些方法学和数据驱动的进展极大地提高了我们在人类中稳健检测选择的基因组特征的能力。应用于当今大量基因组样本的新方法提高了检测能力,而古代DNA则使我们能够精确估计选择发生的时间和速度。然而,尽管有这些进展,我们将这些特征转化为对哪些性状实际上受到选择以及原因的理解的能力仍然有限。整合来自不同人群和时间尺度的信息可能有助于解释选择性清除。其他选择模式则更难检测。特别是,尽管有强有力的证据表明大多数人类性状具有多基因性,但多基因选择的证据却很薄弱,其在近期人类进化中的重要性仍不明确。平衡选择和古老基因渗入似乎对于维持潜在的适应性免疫多样性很重要,但对其他性状而言可能并非如此。