Centre for Palaeogenetics, Stockholm, Sweden.
Department of Bioinformatics and Genetics, Swedish Museum of Natural History, Stockholm, Sweden.
Nature. 2021 Mar;591(7849):265-269. doi: 10.1038/s41586-021-03224-9. Epub 2021 Feb 17.
Temporal genomic data hold great potential for studying evolutionary processes such as speciation. However, sampling across speciation events would, in many cases, require genomic time series that stretch well back into the Early Pleistocene subepoch. Although theoretical models suggest that DNA should survive on this timescale, the oldest genomic data recovered so far are from a horse specimen dated to 780-560 thousand years ago. Here we report the recovery of genome-wide data from three mammoth specimens dating to the Early and Middle Pleistocene subepochs, two of which are more than one million years old. We find that two distinct mammoth lineages were present in eastern Siberia during the Early Pleistocene. One of these lineages gave rise to the woolly mammoth and the other represents a previously unrecognized lineage that was ancestral to the first mammoths to colonize North America. Our analyses reveal that the Columbian mammoth of North America traces its ancestry to a Middle Pleistocene hybridization between these two lineages, with roughly equal admixture proportions. Finally, we show that the majority of protein-coding changes associated with cold adaptation in woolly mammoths were already present one million years ago. These findings highlight the potential of deep-time palaeogenomics to expand our understanding of speciation and long-term adaptive evolution.
时间基因组数据在研究进化过程(如物种形成)方面具有巨大潜力。然而,在许多情况下,对物种形成事件进行采样需要延伸到早更新世亚时段的基因组时间序列。尽管理论模型表明 DNA 应该在这个时间尺度上存活下来,但迄今为止,最古老的基因组数据来自一匹可追溯到 78 万至 56 万年前的马标本。在这里,我们报告了从三个猛犸象标本中恢复的全基因组数据,这些标本的年代可追溯到早更新世和中更新世亚时段,其中两个标本的年代超过 100 万年。我们发现,在早更新世期间,西伯利亚东部存在两个不同的猛犸象谱系。其中一个谱系产生了猛犸象,另一个谱系代表了一个以前未被识别的谱系,是第一批殖民北美的猛犸象的祖先。我们的分析表明,北美的哥伦比亚猛犸象可以追溯到这两个谱系之间的中更新世杂交,其混合比例大致相等。最后,我们表明,与猛犸象适应寒冷相关的大多数编码蛋白变化在 100 万年前就已经存在。这些发现突显了古时间基因组学在扩展我们对物种形成和长期适应进化的理解方面的潜力。