Centre for GeoGenetics, Natural History Museum, University of Copenhagen, Copenhagen, Denmark.
Mol Biol Evol. 2012 Sep;29(9):2241-51. doi: 10.1093/molbev/mss094. Epub 2012 Mar 16.
Populations carry a genetic signal of their demographic past, providing an opportunity for investigating the processes that shaped their evolution. Our ability to infer population histories can be enhanced by including ancient DNA data. Using serial-coalescent simulations and a range of both quantitative and temporal sampling schemes, we test the power of ancient mitochondrial sequences and nuclear single-nucleotide polymorphisms (SNPs) to detect past population bottlenecks. Within our simulated framework, mitochondrial sequences have only limited power to detect subtle bottlenecks and/or fast post-bottleneck recoveries. In contrast, nuclear SNPs can detect bottlenecks followed by rapid recovery, although bottlenecks involving reduction of less than half the population are generally detected with low power unless extensive genetic information from ancient individuals is available. Our results provide useful guidelines for scaling sampling schemes and for optimizing our ability to infer past population dynamics. In addition, our results suggest that many ancient DNA studies may face power issues in detecting moderate demographic collapses and/or highly dynamic demographic shifts when based solely on mitochondrial information.
人群携带其人口历史的遗传信号,为研究塑造其进化的过程提供了机会。通过包括古 DNA 数据,我们推断人口历史的能力可以得到增强。使用连续合并模拟和一系列定量和时间采样方案,我们测试了古代线粒体序列和核单核苷酸多态性 (SNP) 检测过去人口瓶颈的能力。在我们的模拟框架内,线粒体序列仅具有有限的检测细微瓶颈和/或快速瓶颈后恢复的能力。相比之下,核 SNPs 可以检测到随后快速恢复的瓶颈,尽管除非有来自古代个体的广泛遗传信息,否则通常只能以较低的概率检测到种群减少不到一半的瓶颈。我们的结果为调整采样方案和优化推断过去人口动态的能力提供了有用的指导。此外,我们的结果表明,当仅基于线粒体信息时,许多古 DNA 研究可能在检测中等规模的人口崩溃和/或高度动态的人口变化方面面临能力问题。