澳大利亚国立大学Stephen Leslie团队近期取得重要工作进展，他们研究揭示了澳大利亚土著居民基因组显示出深层结构和丰富的新变异。相关研究成果2023年12月13日在线发表于《自然》杂志上。

据介绍，澳大利亚土著居民有着丰富的语言和文化历史。由于他们对基因组研究的参与有限，这与遗传多样性的关系在很大程度上仍然未知。

研究人员分析了来自四个偏远土著社区的159个人的基因组，其中包括说一种语言（提维语）的人，而不是来自最广泛的家庭（Pama–Nyungan）。研究人员观察到澳大利亚各地异常强劲的人口结构，这是由26000-35000年前社区之间的分化时间和长期低但稳定的有效人口规模所驱动的。这一人口统计学历史，包括与巴布亚新几内亚（47000年前）和欧亚种群的早期差异，产生了非洲以外地区以前未描述的最高比例的遗传变异，与全球样本相比，具有最广泛的纯合性。在全球参考小组或临床数据集中没有观察到这种变异的很大一部分，与其他人群相比，具有预测功能结果的变异更有可能是纯合的，从而对医学基因组学产生影响。

总之，这一研究结果表明，澳大利亚土著人不是一个单一的同质遗传群体，他们与新几内亚人民的遗传关系也不统一。这些模式意味着，澳大利亚土著人的全部基因多样性仍然没有得到表征，这可能会限制澳大利亚土著的基因组医学和公平医疗保健。

附：英文原文

Title: Indigenous Australian genomes show deep structure and rich novel variation

Author: Silcocks, Matthew, Farlow, Ashley, Hermes, Azure, Tsambos, Georgia, Patel, Hardip R., Huebner, Sharon, Baynam, Gareth, Jenkins, Misty R., Vukcevic, Damjan, Easteal, Simon, Leslie, Stephen

Issue&Volume: 2023-12-13

Abstract: The Indigenous peoples of Australia have a rich linguistic and cultural history. How this relates to genetic diversity remains largely unknown because of their limited engagement with genomic studies. Here we analyse the genomes of 159 individuals from four remote Indigenous communities, including people who speak a language (Tiwi) not from the most widespread family (Pama–Nyungan). This large collection of Indigenous Australian genomes was made possible by careful community engagement and consultation. We observe exceptionally strong population structure across Australia, driven by divergence times between communities of 26,000–35,000 years ago and long-term low but stable effective population sizes. This demographic history, including early divergence from Papua New Guinean (47,000 years ago) and Eurasian groups1, has generated the highest proportion of previously undescribed genetic variation seen outside Africa and the most extended homozygosity compared with global samples. A substantial proportion of this variation is not observed in global reference panels or clinical datasets, and variation with predicted functional consequence is more likely to be homozygous than in other populations, with consequent implications for medical genomics2. Our results show that Indigenous Australians are not a single homogeneous genetic group and their genetic relationship with the peoples of New Guinea is not uniform. These patterns imply that the full breadth of Indigenous Australian genetic diversity remains uncharacterized, potentially limiting genomic medicine and equitable healthcare for Indigenous Australians.

DOI: 10.1038/s41586-023-06831-w

Source: https://www.nature.com/articles/s41586-023-06831-w