Nagle Nano, Ballantyne Kaye N, van Oven Mannis, Tyler-Smith Chris, Xue Yali, Wilcox Stephen, Wilcox Leah, Turkalov Rust, van Oorschot Roland A H, van Holst Pellekaan Sheila, Schurr Theodore G, McAllister Peter, Williams Lesley, Kayser Manfred, Mitchell R John
Department of Biochemistry and Genetics, La Trobe University, Melbourne, VIC, Australia.
Office of the Chief Forensic Scientist, Victorian Police Forensic Services Department, Melbourne, VIC, Australia.
J Hum Genet. 2017 Mar;62(3):343-353. doi: 10.1038/jhg.2016.147. Epub 2016 Dec 1.
Aboriginal Australians are one of the more poorly studied populations from the standpoint of human evolution and genetic diversity. Thus, to investigate their genetic diversity, the possible date of their ancestors' arrival and their relationships with neighboring populations, we analyzed mitochondrial DNA (mtDNA) diversity in a large sample of Aboriginal Australians. Selected mtDNA single-nucleotide polymorphisms and the hypervariable segment haplotypes were analyzed in 594 Aboriginal Australians drawn from locations across the continent, chiefly from regions not previously sampled. Most (78%) samples could be assigned to mtDNA haplogroups indigenous to Australia. The indigenous haplogroups were all ancient (with estimated ages >40 000 years) and geographically widespread across the continent. The most common haplogroup was P (44%) followed by S (23%) and M42a (9%). There was some geographic structure at the haplotype level. The estimated ages of the indigenous haplogroups range from 39 000 to 55 000 years, dates that fit well with the estimated date of colonization of Australia based on archeological evidence (47 000 years ago). The distribution of mtDNA haplogroups in Australia and New Guinea supports the hypothesis that the ancestors of Aboriginal Australians entered Sahul through at least two entry points. The mtDNA data give no support to the hypothesis of secondary gene flow into Australia during the Holocene, but instead suggest long-term isolation of the continent.
从人类进化和遗传多样性的角度来看，澳大利亚原住民是研究较少的群体之一。因此，为了调查他们的遗传多样性、其祖先可能抵达的时间以及他们与邻近群体的关系，我们分析了大量澳大利亚原住民样本中的线粒体DNA（mtDNA）多样性。在从澳大利亚大陆各地选取的594名澳大利亚原住民中，主要是从未采样过的地区，分析了选定的mtDNA单核苷酸多态性和高变区单倍型。大多数（约78%）样本可归为澳大利亚本土的mtDNA单倍群。本土单倍群都很古老（估计年龄>40000年），并且在整个大陆地理分布广泛。最常见的单倍群是P（44%），其次是S（23%）和M42a（9%）。在单倍型水平上存在一些地理结构。本土单倍群的估计年龄在39000年至55000年之间，这些日期与基于考古证据（约47000年前）估计的澳大利亚殖民化日期非常吻合。澳大利亚和新几内亚mtDNA单倍群的分布支持了这样一种假设，即澳大利亚原住民的祖先至少通过两个入口点进入了萨胡尔大陆。mtDNA数据不支持全新世期间有二次基因流入澳大利亚的假设，而是表明该大陆长期处于隔离状态。
