Charlesworth Brian
Institute of Evolutionary Biology, School of Biological Sciences, University of Edinburgh, Edinburgh EH9 3JT, UK.
Genet Res (Camb). 2010 Dec;92(5-6):397-411. doi: 10.1017/S0016672310000522.
Population genomics is the study of the amount and causes of genome-wide variability in natural populations, a topic that has been under discussion since Darwin. This paper first briefly reviews the early development of molecular approaches to the subject: the pioneering unbiased surveys of genetic variability at multiple loci by means of gel electrophoresis and restriction enzyme mapping. The results of surveys of levels of genome-wide variability using DNA resequencing studies are then discussed. Studies of the extent to which variability for different classes of variants (non-synonymous, synonymous and non-coding) are affected by natural selection, or other directional forces such as biased gene conversion, are also described. Finally, the effects of deleterious mutations on population fitness and the possible role of Hill-Robertson interference in shaping patterns of sequence variability are discussed.
群体基因组学是研究自然群体中全基因组变异的数量和原因，自达尔文时代起这个话题就一直在讨论中。本文首先简要回顾了该主题分子方法的早期发展：通过凝胶电泳和限制性酶切图谱对多个位点的遗传变异进行开创性的无偏调查。接着讨论了使用DNA重测序研究全基因组变异水平的调查结果。还描述了不同类型变异（非同义、同义及非编码变异）的变异性受自然选择或其他定向力量（如偏向基因转换）影响程度的研究。最后，讨论了有害突变对群体适应性的影响以及希尔-罗伯逊干扰在塑造序列变异模式中可能发挥的作用。
