耶鲁大学Serena Tucci研究组宣布他们揭示了近大洋洲的长期隔离和古渐渗形成功能性遗传变异。2026年6月11日出版的《科学》发表了这项成果。

课题组生成了177个高覆盖率的近大洋洲全基因组，并将它们与全球1284个基因组进行了分析，揭示了岛屿之间和岛屿内部的主要差异，包括长期隔离和强烈的人口瓶颈。课题组人员重建了18.97亿对古代基因组，其中包括8.319亿对丹尼索瓦人序列，并发现了近大洋洲3个丹尼索瓦人样群体的基因渐入性和TRPS1的适应性丹尼索瓦人基因渐入性的证据，TRPS1是一种骨骼发育基因，也在中非雨林狩猎采集者和高原厄瓜多尔人中进行了选择。然后，课题组进行了大规模平行报告基因实验，发现了3127个高频渗入表达调节变异，发现干扰素-γ信号通路中包括JAK1、GBP2和OAS1在内的基因功能影响富集。

研究人员表示，近大洋种群拥有丰富的文化、表型和遗传多样性，但在人类基因组学中却严重缺乏代表性。

附：英文原文

Title: Long-term isolation and archaic introgression shape functional genetic variation in Near Oceania

Author: Patrick F. Reilly, Stephen Rong, Daniela Tejada-Martinez, Samantha L. Miller, Audrey Tjahjadi, Chang Liu, Jared Akers, Alysa Pomer, Margaret E. Prentice, D. Andrew Merriwether, Franoise R. Friedlaender, George Koki, Jonathan S. Friedlaender, Steven K. Reilly, Serena Tucci

Issue&Volume: 2026-06-11

Abstract: Near Oceanic populations harbor substantial cultural, phenotypic, and genetic diversity yet are drastically underrepresented in human genomics. We generated 177 high-coverage Near Oceanian whole genomes and analyzed them alongside 1284 worldwide genomes, revealing major distinctions among and within islands, including long-term isolation and strong population bottlenecks. We reconstructed 1.897 billion base pairs of the archaic genome, including 831.9 million base pairs of Denisovan sequence, and found evidence for introgression from three Denisovan-like groups in Near Oceanians and adaptive Denisovan introgression at TRPS1, a skeletal development gene also under selection in central African rainforest hunter-gatherers and highland Ecuadorians. We then performed a massively parallel reporter assay and discovered 3127 high-frequency introgressed expression-modulating variants, finding an enrichment of functional impacts on genes in the interferon-γ signaling pathway including JAK1, GBP2, and OAS1.

DOI: adr6749

Source: https://www.science.org/doi/10.1126/science.adr6749

期刊信息

Science：《科学》，创刊于1880年。隶属于美国科学促进会，最新IF：63.714

官方网址：https://www.sciencemag.org/

投稿链接：https://cts.sciencemag.org/scc/#/login