Inference of human population history from individual whole-genome sequences.
Inference of human population history from individual whole-genome sequences.
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DOI：
10.1038/nature10231
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发表时间：
2011-07-13
期刊：
影响因子：
64.8
通讯作者：
Durbin, Richard
中科院分区：
文献类型：
--
作者：
Li, Heng;Durbin, Richard
人类人口规模的历史对于理解人类进化至关重要。多项研究发现了东亚和欧洲人群中存在奠基者事件（瓶颈）的证据，该事件与大约6万年前（kya，距今年数）人类走出非洲的扩散事件相关。然而，这些研究不得不假定简化的人口统计学模型，且参数较少，并且没有精确确定瓶颈的起始和终止时间。在此，我们在对人口规模变化做出更少假设的情况下，利用应用于一名中国男性（YH）、一名韩国男性（SJK）、三名欧洲个体（文特尔、NA12891和NA12878）以及两名约鲁巴男性（NA18507和NA19239）的完整二倍体基因组序列的成对顺序马尔可夫合并（PSMC）模型，呈现了大约1万到100万年前更详细的人类人口规模历史。我们推断，在10 - 20kya之前，欧洲和中国人群具有非常相似的人口规模历史。这两个人群在10 - 60kya之间都经历了严重的瓶颈，而非洲人群经历了较温和的瓶颈且更早恢复。所有三个人群在60 - 250kya之间都有一个增大的有效人口规模，这可能是由于人口结构。我们还推断，遗传上的现代人类的分化可能早在100 - 120kya就已开始，但直到20 - 40kya可能仍有大量的基因交流发生。
The history of human population size is important to 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 ago (kya) before present. However, these studies have to assume simplified demographic models with few parameters and do not precisely date 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 to a million years ago, using the pairwise sequentially Markovian coalescent (PSMC) model applied to the complete diploid genome sequences of a Chinese male (YH), a Korean male (SJK), three European individuals (Venter, NA12891 and NA12878) and two Yoruba males (NA18507 and NA19239). We infer that European and Chinese populations had very similar population size histories before 10–20kya. Both populations experienced a severe bottleneck between 10–60kya while African populations experienced a milder bottleneck from which they recovered earlier. All three populations have an elevated effective population size between 60–250kya, possibly due to a population structure. We also infer that the differentiation of genetically modern humans may have started as early as 100–120kya, but considerable genetic exchanges may still have occurred until 20–40kya.
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影响因子：
4.5
作者：
Gutenkunst RN;Hernandez RD;Williamson SH;Bustamante CD
通讯作者：
Bustamante CD
影响因子：
4.5
作者：
Plagnol, Vincent;Wall, Jeffrey D.
通讯作者：
Wall, Jeffrey D.
影响因子：
4.5
作者：
Hobolth A;Christensen OF;Mailund T;Schierup MH
通讯作者：
Schierup MH
DOI：
10.1101/sqb.1987.052.01.094
发表时间：
1987-01-01
期刊：
COLD SPRING HARBOR SYMPOSIA ON QUANTITATIVE BIOLOGY
影响因子：
--
作者：
MIYATA, T;HAYASHIDA, H;YASUNAGA, T
通讯作者：
YASUNAGA, T
影响因子：
2.8
作者：
Fenner, JN
通讯作者：
Fenner, JN