美洲原住民的进化历史和独特的基因多样性，这一成果由圣保罗大学Tábita Hünemeier课题组经过不懈努力而取得。2026年4月22日出版的《自然》杂志发表了这一最新研究成果。

在这里，该研究团队提供了128个高覆盖美洲土著基因组的数据，并表明它们具有广泛的和以前未被表征的遗传多样性，反映了至少三次向南美洲的分散，随后是区域分化和长期连续性。该课题组在与免疫、代谢、繁殖和发育相关的基因中发现了广泛的自然选择信号，这些信号是通过适应不同的环境条件而形成的。值得注意的是，一些基因组区域显示出与非特拉西亚人种群共享的显著等位基因，这可能源于古代的混合事件，部分是通过选择维持了1万多年。

该团队还发现了来自古人类的不同贡献，适应性渗入影响了关键的生物功能。亚特马拉西亚亲缘区域和古代祖先之间有限的重叠表明这些信号的独立进化起源。这些发现对大陆定居的简化模型提出了挑战，并展示了美洲土著民族更动态、更复杂的进化史。

据介绍，美洲土著居民代表了人类在全球范围内的最后一次主要扩张，然而他们的遗传历史仍然是最少被探索的历史之一。尽管这些种群已经在大陆上生活了几十年，但由于基因组数据有限，它们的进化史在很大程度上仍未得到解决。

附：英文原文

Title: The evolutionary history and unique genetic diversity of Indigenous Americans

Author: Castro e Silva, Marcos Arajo, Nunes, Kelly, Ribeiro, Mara R., Passarelli-Araujo, Hemanoel, Lemes, Renan Barbosa, Kimura, Lilian, Sacuena, Putira, G. Amorim, Carlos Eduardo, Bortolini, Maria Ctira, Mill, Jos Geraldo, Guerreiro, Joo Farias, Barbieri, Chiara, Hernndez-Zaragoza, Diana Iraz, Walter, Antonia, Chowdhury, Trija Nag, Macas-Herrera, Daniela, Lara-Riegos, Julio Csar, Del Castillo-Chvez, Oana, Zurita, Camilo, Tito-lvarez, Ana Mara, Vsquez-Domnguez, Emilia, Moo-Mezeta, Mara Ermila, Torres-Romero, Julio Csar, Aguilar-Campos, Abraham, Serrano-Osuna, Ricardo, Paroln, Maria Laura, Bravi, Claudio M., Ramallo, Virgnia, Bailliet, Graciela, Revollo, Susana, Sandoval, Jos R., Fujita, Ricardo, Barquera, Rodrigo, Santos, Fabrcio R., Comas, David, Hnemeier, Tbita

Issue&Volume: 2026-04-22

Abstract: Indigenous peoples of America represent the last principal expansion of humans across the globe1, yet their genetic history remains one of the least explored2. Although these populations have inhabited the continent for thousands of years3, their evolutionary history remains largely unresolved4,5, owing to the limited availability of genomic data. Here we present data on 128 high-coverage Indigenous American genomes and show they harbour extensive and previously uncharacterized genetic diversity, reflecting at least three dispersals into South America, followed by regional differentiation and long-term continuity. We identified widespread natural selection signals in genes associated with immunity, metabolism, reproduction and development, which were shaped by adaptation to diverse environmental conditions. Notably, several genomic regions exhibit a remarkable allele sharing with Australasian populations, probably originating from an ancient admixture event and partly maintained by selection for more than 10,000 years. We also detected distinct contributions from archaic humans with adaptive introgression affecting key biological functions. The limited overlap between the regions of Australasian affinity and archaic ancestry indicates independent evolutionary origins of these signals. These findings challenge simplified models of continental settlements and show a more dynamic and complex evolutionary history for the Indigenous peoples in America.

DOI: 10.1038/s41586-026-10406-w

Source: https://www.nature.com/articles/s41586-026-10406-w