Nagel Anna A, Flouri Tomáš, Yang Ziheng, Rannala Bruce
Department of Evolution and Ecology, University of California, 1 Shields Avenue, Davis, CA 95616, USA.
Department of Genetics, Evolution, and Environment, University College London, Gower Street, London WC1E 6BT, UK.
Syst Biol. 2024 Nov 29;73(6):964-978. doi: 10.1093/sysbio/syae047.
Ancient DNA (aDNA) is increasingly being used to investigate questions such as the phylogenetic relationships and divergence times of extant and extinct species. If aDNA samples are sufficiently old, expected branch lengths (in units of nucleotide substitutions) are reduced relative to contemporary samples. This can be accounted for by incorporating sample ages into phylogenetic analyses. Existing methods that use tip (sample) dates infer gene trees rather than species trees, which can lead to incorrect or biased inferences of the species tree. Methods using a multispecies coalescent (MSC) model overcome these issues. We developed an MSC model with tip dates and implemented it in the program BPP. The method performed well for a range of biologically realistic scenarios, estimating calibrated divergence times and mutation rates precisely. Simulations suggest that estimation precision can be best improved by prioritizing sampling of many loci and more ancient samples. Incorrectly treating ancient samples as contemporary in analyzing simulated data, mimicking a common practice of empirical analyses, led to large systematic biases in model parameters, including divergence times. Two genomic datasets of mammoths and elephants were analyzed, demonstrating the method's empirical utility.
古DNA(aDNA)越来越多地被用于研究诸如现存和已灭绝物种的系统发育关系及分化时间等问题。如果aDNA样本足够古老,相对于当代样本,预期的分支长度(以核苷酸替换为单位)会缩短。这可以通过将样本年龄纳入系统发育分析来解释。现有的使用末端(样本)日期的方法推断的是基因树而非物种树,这可能导致对物种树的推断不正确或有偏差。使用多物种溯祖(MSC)模型的方法克服了这些问题。我们开发了一个带有末端日期的MSC模型,并在程序BPP中实现了它。该方法在一系列生物学现实场景中表现良好,能够精确估计校准后的分化时间和突变率。模拟表明,通过优先对多个基因座和更古老的样本进行采样,可以最好地提高估计精度。在分析模拟数据时,将古老样本错误地当作当代样本处理,这模仿了实证分析中的常见做法,导致模型参数出现很大的系统偏差,包括分化时间。对猛犸象和大象的两个基因组数据集进行了分析,证明了该方法的实证效用。