Patagonia was the last region of the Americas reached by humans who entered the continent from Siberia ∼15,000–20,000 y ago. Despite recent genomic approaches to reconstruct the continental evolutionary history, regional characterization of ancient and modern genomes remains understudied. Exploring the genomic diversity within Patagonia is not just a valuable strategy to gain a better understanding of the history and diversification of human populations in the southernmost tip of the Americas, but it would also improve the representation of Native American diversity in global databases of human variation. Here, we present genome data from four modern populations from Central Southern Chile and Patagonia (n = 61) and four ancient maritime individuals from Patagonia (∼1,000 y old). Both the modern and ancient individuals studied in this work have a greater genetic affinity with other modern Native Americans than to any non-American population, showing within South America a clear structure between major geographical regions. Native Patagonian Kawéskar and Yámana showed the highest genetic affinity with the ancient individuals, indicating genetic continuity in the region during the past 1,000 y before present, together with an important agreement between the ethnic affiliation and historical distribution of both groups. Lastly, the ancient maritime individuals were genetically equidistant to a ∼200-y-old terrestrial hunter-gatherer from Tierra del Fuego, which supports a model with an initial separation of a common ancestral group to both maritime populations from a terrestrial population, with a later diversification of the maritime groups.

巴塔哥尼亚是大约15,000-20,000年前从西伯利亚进入非洲大陆的人类到达的最后一个区域。尽管最近有基因组学方法重建了大陆的进化史，但古代和现代基因组的区域特征仍未得到研究。探索巴塔哥尼亚内部的基因组多样性不仅是一种更好地了解美洲最南端人口历史和多样化的有价值的战略，而且还将改善美洲印第安人多样性在全球人类变异数据库中的代表。在这里，我们展示了来自智利中南部和巴塔哥尼亚（n= 61）和来自巴塔哥尼亚的四位古代海上人（〜1,000岁）。在这项工作中研究的现代和古代个体与其他现代美洲原住民相比，其遗传亲和力要强于任何非美国人口，这表明南美地区主要地理区域之间的结构清晰。巴塔哥尼亚土著人卡瓦斯卡（Kawéskar）和雅马纳人（Yámana）与古代个体的遗传亲和力最高，表明该地区在过去1000 y到现在为止的遗传连续性，以及族裔和这两个群体的历史分布之间的重要协议。最后，古代海洋个体在遗传上与来自火地岛（Tierra del Fuego）的大约200岁的陆地狩猎采集者等距，