Institute of Legal Medicine, Innsbruck Medical University, Innsbruck, Austria.
Genome Res. 2012 May;22(5):811-20. doi: 10.1101/gr.131722.111. Epub 2012 Feb 14.
It is now widely agreed that the Native American founders originated from a Beringian source population ~15-18 thousand years ago (kya) and rapidly populated all of the New World, probably mainly following the Pacific coastal route. However, details about the migration into the Americas and the routes pursued on the continent still remain unresolved, despite numerous genetic, archaeological, and linguistic investigations. To examine the pioneering peopling phase of the South American continent, we screened literature and mtDNA databases and identified two novel mitochondrial DNA (mtDNA) clades, here named D1g and D1j, within the pan-American haplogroup D1. They both show overall rare occurrences but local high frequencies, and are essentially restricted to populations from the Southern Cone of South America (Chile and Argentina). We selected and completely sequenced 43 D1g and D1j mtDNA genomes applying highest quality standards. Molecular and phylogeographic analyses revealed extensive variation within each of the two clades and possibly distinct dispersal patterns. Their age estimates agree with the dating of the earliest archaeological sites in South America and indicate that the Paleo-Indian spread along the entire longitude of the American double continent might have taken even <2000 yr. This study confirms that major sampling and sequencing efforts are mandatory for uncovering all of the most basal variation in the Native American mtDNA haplogroups and for clarification of Paleo-Indian migrations, by targeting, if possible, both the general mixed population of national states and autochthonous Native American groups, especially in South America.
现在人们普遍认为,美洲原住民的祖先是约 1.5 万至 1.8 万年前从白令海峡地区起源的,并可能主要沿着太平洋沿海路线迅速遍布整个新世界。然而,有关进入美洲的迁移细节以及在该大陆上所走的路线,尽管经过了大量的遗传、考古和语言调查,但仍未得到解决。为了研究南美洲大陆的开拓性移民阶段,我们筛选了文献和 mtDNA 数据库,在泛美单倍群 D1 中发现了两个新的线粒体 DNA(mtDNA)谱系,分别命名为 D1g 和 D1j。它们都显示出总体上罕见但局部高频的出现,并且基本上仅限于来自南美洲南锥体(智利和阿根廷)的人群。我们选择并应用最高质量标准对 43 个 D1g 和 D1j mtDNA 基因组进行了完全测序。分子和系统地理学分析揭示了两个谱系内的广泛变异,可能存在不同的扩散模式。它们的年龄估计与南美洲最早的考古遗址的年代相符,表明古印第安人沿着美洲双大陆的整个经度传播可能只用了不到 2000 年。这项研究证实,通过针对国家的一般混合人群和土著美洲原住民群体(特别是在南美洲),进行大规模的采样和测序工作,对于揭示美洲原住民 mtDNA 单倍群的所有最基础变异以及澄清古印第安人迁移至关重要。