Tournebize Rémi, Chikhi Lounès
UMR DIADE, Université de Montpellier, IRD, CIRAD, Montpellier, France.
Instituto Gulbenkian de Ciência, Oeiras, Portugal.
Nat Ecol Evol. 2025 Feb;9(2):225-236. doi: 10.1038/s41559-024-02591-6. Epub 2024 Dec 13.
Genomic and ancient DNA data have revolutionized palaeoanthropology and our vision of human evolution, with indisputable landmarks like the sequencing of Neanderthal and Denisovan genomes. Yet, using genetic data to identify, date and quantify evolutionary events-such as ancient bottlenecks or admixture-is not straightforward, as inferences may depend on model assumptions. In the last two decades, the idea that Neanderthals and members of the Homo sapiens lineage interbred has gained momentum. From the status of unlikely theory, it has reached consensus among human evolutionary biologists. This theory is mainly supported by statistical approaches that depend on demographic models minimizing or ignoring population structure, despite its widespread occurrence and the fact that, when ignored, population structure can lead to the inference of spurious demographic events. We simulated genomic data under a structured and admixture-free model of human evolution, and found that all the tested admixture approaches identified long Neanderthal fragments in our simulated genomes and an admixture event that never took place. We also observed that several published admixture models failed to predict important empirical diversity or admixture statistics, and that we could identify several scenarios from our structured model that better predicted these statistics jointly. Using a simulated time series of ancient DNA, the structured scenarios could also predict the trajectory of the empirical D statistics. Our results suggest that models accounting for population structure are fundamental to improve our understanding of human evolution, and that admixture between Neanderthals and H. sapiens needs to be re-evaluated in the light of structured models. Beyond the Neanderthal case, we argue that ancient hybridization events, which are increasingly documented in many species, including with other hominins, may also benefit from such re-evaluation.
基因组和古DNA数据彻底改变了古人类学以及我们对人类进化的看法,其中具有里程碑意义的事件包括尼安德特人和丹尼索瓦人基因组的测序。然而,利用遗传数据来识别、确定年代并量化进化事件,如古代瓶颈或基因混合,并非易事,因为推断可能取决于模型假设。在过去二十年里,尼安德特人与智人谱系成员发生杂交的观点越来越受到关注。从一开始不太可能的理论,到现在已在人类进化生物学家中达成共识。这一理论主要得到统计方法的支持,这些方法依赖于将种群结构最小化或忽略种群结构的人口模型,尽管种群结构广泛存在,且忽略它会导致推断出虚假的人口事件。我们在一个结构化且无混合的人类进化模型下模拟了基因组数据,发现所有测试的混合方法都在我们模拟的基因组中识别出了长的尼安德特人片段以及一个从未发生过的混合事件。我们还观察到,一些已发表的混合模型未能预测重要的经验多样性或混合统计数据,而且我们可以从我们的结构化模型中识别出几种能更好地联合预测这些统计数据的情景。使用模拟的古代DNA时间序列,结构化情景也能够预测经验D统计量的轨迹。我们的结果表明,考虑种群结构的模型对于增进我们对人类进化的理解至关重要,并且尼安德特人与智人之间的混合需要根据结构化模型重新评估。除了尼安德特人的案例,我们认为,在许多物种中越来越多地有记录的古代杂交事件,包括与其他古人类的杂交事件,也可能从这种重新评估中受益。