Interrogating multiple aspects of variation in a full resequencing data set to infer human population size changes
Interrogating multiple aspects of variation in a full resequencing data set to infer human population size changes
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DOI：
10.1073/pnas.0507325102
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发表时间：
2005-12-20
影响因子：
11.1
通讯作者：
Di Rienzo, A
中科院分区：
文献类型：
--
作者：
Voight, BF;Adams, AM;Di Rienzo, A
我们提出了一个50个非连锁常染色体非编码区的扩展数据集，在来自喀麦隆、意大利和中国的豪萨样本中进行了重新测序。我们使用这些数据通过结合遗传数据的多个方面的技术来推断人类人口历史，包括多态水平、等位基因频谱和连锁不平衡。我们探索了广泛的人口统计参数范围，并证明了我们将数据的多个方面结合在一起的方法导致了相容参数空间的显著减少。与之前的报告一致，我们发现豪萨的数据与人口均衡以及最近的一系列人口扩张模型是一致的。与豪萨人不同的是，当联合考虑数据的多个方面时，非非洲人脱离了人口规模恒定的平衡模型，并与一系列简单的瓶颈模型兼容，包括有效人口数量减少50%-90%，这发生在16万-12万年前非洲现代人出现之后的某个时间。
We present an expanded data set of 50 unlinked autosomal noncoding regions, resequenced in samples of Hausa from Cameroon, Italians, and Chinese. We use these data to make inferences about human demographic history by using a technique that combines multiple aspects of genetic data, including levels of polymorphism, the allele frequency spectrum, and linkage disequilibrium. We explore an extensive range of demographic parameters and demonstrate that our method of combining multiple aspects of the data results in a significant reduction of the compatible parameter space. In agreement with previous reports, we find that the Hausa data are compatible with demographic equilibrium as well as a set of recent population expansion models. In contrast to the Hausa, when multiple aspects of the data are considered jointly, the non-Africans depart from an equilibrium model of constant population size and are compatible with a range of simple bottleneck models, including a 50-90% reduction in effective population size occurring some time after the appearance of modern humans in Africa 160,000-120,000 years ago.