Human Genetics Program, Institute of Biomedical Sciences, Faculty of Medicine, University of Chile, Santiago 8380453, Chile.
Centre for GeoGenetics, University of Copenhagen, 1350 Copenhagen, Denmark.
Proc Natl Acad Sci U S A. 2018 Apr 24;115(17):E4006-E4012. doi: 10.1073/pnas.1715688115. Epub 2018 Apr 9.
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 ( = 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.
巴塔哥尼亚是人类从西伯利亚进入美洲大陆的最后一个地区，大约在 15000-20000 年前。尽管最近采用基因组方法来重建大陆进化历史，但对古代和现代基因组的区域特征描述仍研究不足。探索巴塔哥尼亚的基因组多样性不仅是更好地了解美洲最南端人类群体的历史和多样化的宝贵策略，而且还将改善全球人类变异数据库中美洲原住民多样性的代表性。在这里，我们展示了来自智利中南部和巴塔哥尼亚的四个现代群体（=61）和四个来自巴塔哥尼亚的古代海洋个体（约 1000 年前）的基因组数据。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的遗传亲和力大于与任何非美洲人群的遗传亲和力，在南美洲内部显示出主要地理区域之间的明显结构。当地的巴塔哥尼亚卡韦斯卡和雅马纳与古代个体的遗传亲和力最高，表明在过去的 1000 年中，该地区的遗传连续性，以及这两个群体的种族归属和历史分布之间的重要一致性。最后，古代海洋个体与来自火地岛的一个约 200 岁的陆地狩猎采集者在遗传上是等距的，这支持了一个模型，即一个共同祖先群体最初与两个海洋群体分离，然后是海洋群体的多样化。
