乌普萨拉大学Carina M. Schlebusch小组取得一项新突破。他们的研究认为南非古代基因组揭示了智人特有的进化。相关论文于2025年12月3日发表在《自然》杂志上。

在这里，研究人员提供了28个古代南部非洲个体的全基因组测序数据，其中包括6个基因组覆盖率为25倍至7.2倍的个体，可追溯到10200至150个校准年之前（cal.BP）。所有的古南非人都可以追溯到公元1400年以前。BP显示的基因构成超出了现代人类的基因变异范围（包括南部非洲的Khoe-San人，尽管有些人保留了高达80%的古代南部非洲血统），表现在古代南部非洲独有的大部分智人特异性变异中。

在所有人类固定的氨基酸改变位点上，智人特有的变异——很可能是在智人分支上迅速进化而来的——富集了与肾功能相关的基因。一些固定在古代南部非洲人身上的智人特有的变种——它们很可能已经迅速适应了南部非洲的分支——富含与抵御紫外线有关的基因。古代非洲南部在9000年前几乎没有时空分层现象。这与超越考古阶段的大规模、稳定的全新世人口相一致。尽管南非长期以来一直是地理上的避难所，但向外流动的基因超过8000年前；然而，向内的基因流动只在1400 年前的事了。因此，这里报道的古代基因组是智人进化的关键，对于推进他们对人类基因组变异的理解非常重要。

研究人员表示，智人早在几百年前就在非洲进化而来，后来扩散到全球，但早期的进化过程仍有争议。

附：英文原文

Title: Homo sapiens-specific evolution unveiled by ancient southern African genomes

Author: Jakobsson, Mattias, Bernhardsson, Carolina, McKenna, James, Hollfelder, Nina, Vicente, Mario, Edlund, Hanna, Coutinho, Alexandra, Sjdin, Per, Brink, James, Zipfel, Bernhard, Malmstrm, Helena, Lombard, Marlize, Schlebusch, Carina M.

Issue&Volume: 2025-12-03

Abstract: Homo sapiens evolved hundreds of thousands of years ago in Africa, later spreading across the globe1, but the early evolutionary process is debated2,3,4,5,6. Here we present whole-genome sequencing data for 28 ancient southern African individuals, including six individuals with 25× to 7.2× genome coverage, dated to between 10,200 and 150 calibrated years before present (cal.BP). All ancient southern Africans dated to more than 1,400cal.BP show a genetic make-up that is outside the range of genetic variation in modern-day humans (including southern African Khoe-San people, although some retain up to 80% ancient southern African ancestry), manifesting in a large fraction of Homo sapiens-specific variants that are unique to ancient southern Africans. Homo sapiens-specific variants at amino acid-altering sites fixed for all humans—which are likely to have evolved rapidly on the Homo sapiens branch—were enriched for genes associated with kidney function. Some Homo sapiens-specific variants fixed in ancient southern Africans—which are likely to have adapted rapidly on the southern African branch—were enriched for genes associated with protection against ultraviolet light. The ancient southern Africans show little spatiotemporal stratification for 9,000years, consistent with a large, stable Holocene population transcending archaeological phases. While southern Africa served as a long-standing geographical refugium, there is outward gene flow over 8,000years ago; however, inward gene flow manifests only after around 1,400years ago. The ancient genomes reported here are therefore key to the evolution of Homo sapiens, and are important for advancing our understanding of human genomic variation.

DOI: 10.1038/s41586-025-09811-4

Source: https://www.nature.com/articles/s41586-025-09811-4