摘要：人口规模的历史对于了解人类进化很重要。Heng Li 和 Richard Durbin利用中国人、朝鲜人、欧洲人和西非约鲁巴人的完整基因组序列来估算在距今1万年和距今100万年间的人口规模。他们推断，欧洲人口和中国人口在距今1万年-2万年间有非常相似的规模史。欧洲人、中国人和非洲人在距今6万年和25万年间都有人口增加的证据。基因组分析表明，现代人的形成（从遗传上说）最早可能起始于距今10万年-12万年前。
Inference of human population history from individual whole-genome sequences
Abstract:
The history of human population size is important for understanding human evolution. Various studies have found evidence for a founder event (bottleneck) in East Asian and European populations, associated with the human dispersal out-of-Africa event around 60 thousand years (kyr) ago. However, these studies have had to assume simplified demographic models with few parameters, and they do not provide a precise date for the start and stop times of the bottleneck. Here, with fewer assumptions on population size changes, we present a more detailed history of human population sizes between approximately ten thousand and a million years ago, using the pairwise sequentially Markovian coalescent model applied to the complete diploid genome sequences of a Chinese male (YH), a Korean male (SJK), three European individuals (J. C. Venter8, NA12891 and NA12878) and two Yoruba males (NA18507 and NA19239). We infer that European and Chinese populations had very similar population-size histories before 10–20 kyr ago. Both populations experienced a severe bottleneck 10–60 kyr ago, whereas African populations experienced a milder bottleneck from which they recovered earlier. All three populations have an elevated effective population size between 60 and 250 kyr ago, possibly due to population substructure. We also infer that the differentiation of genetically modern humans may have started as early as 100–120 kyr ago, but considerable genetic exchanges may still have occurred until 20–40 kyr ago.
Figure 1: Illustration of the PSMC model and its application to simulated data.
