Ancient DNA reveals prehistoric gene-flow from siberia in the complex human population history of North East Europe.
Ancient DNA reveals prehistoric gene-flow from siberia in the complex human population history of North East Europe.
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DOI：
10.1371/journal.pgen.1003296
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发表时间：
2013
期刊：
影响因子：
4.5
通讯作者：
Genographic Consortium
中科院分区：
文献类型：
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作者：
Der Sarkissian C;Balanovsky O;Brandt G;Khartanovich V;Buzhilova A;Koshel S;Zaporozhchenko V;Gronenborn D;Moiseyev V;Kolpakov E;Shumkin V;Alt KW;Balanovska E;Cooper A;Haak W;Genographic Consortium
东北欧拥有高度多样性的文化和语言，这表明其遗传历史非常复杂。考古学、人类学和遗传学研究揭示了过去欧亚大陆西部和东部的一系列影响。虽然现代人群的遗传数据通常用于推断其起源和过去的迁徙，但古代 DNA 通过提供过去遗传多样性的快照，为此类假设提供了有力的检验。为了更好地了解塑造东北欧人基因库的动态，我们从俄罗斯西北部三个考古遗址的骨骼遗骸中生成并分析了 34 种线粒体基因型。这些遗址的历史可追溯至中石器时代和早期金属时代（距今 7,500 和 3,500 年，未经校准）。我们应用了一套群体遗传分析（主成分分析、遗传距离作图、单倍型共享分析），并通过使用贝叶斯串行 SimCoal 和近似贝叶斯计算的合并模拟来比较过去的人口统计模型。对古代和现代人群遗传数据的比较揭示了东北欧人的线粒体组成随着时间的推移发生了显着变化。中石器时代的采集者表现出单倍群 U（U2e、U4、U5a）的高频率和多样性，这是之前在从伊比利亚到斯堪的纳维亚半岛的欧洲狩猎采集者中观察到的模式。相比之下，早期金属时代个体中线粒体 DNA 单倍群 C、D 和 Z 的存在表明与中石器时代狩猎采集者和来自西伯利亚中部/东部的基因流入的不连续性。我们发现史前和现代东北欧/萨米人之间存在显着的遗传差异，这表明中石器时代后来自西欧的移民以及随后的人口更替/灭绝发挥了重要作用。这项工作展示了古代 DNA 如何能够增进我们对欧亚大陆人口流动的理解。它有助于描述线粒体多样性的时空分布，对于未来重建欧洲人的历史具有重要意义。人类的历史可以通过研究考古和人类学记录来追溯，也可以通过检查遗传标记的当前分布，例如母系遗传的线粒体DNA。古代DNA研究可以从古代骨骼遗骸中检索DNA，并通过比较古代和现代的遗传数据来重建人类历史。在这里，我们分析了距今 7,500 和 3,500 年前考古遗址史前遗迹的线粒体 DNA。这些遗址位于欧洲东北部，该地区如今展现出显着的文化和语言多样性，但之前没有任何古人类 DNA。我们表明，东北欧的史前狩猎采集者在基因上与其他欧洲采集者相似。我们还检测到来自西伯利亚的史前基因输入，随后从西欧迁移到东北欧。我们的研究有助于了解欧洲人口的起源和过去的动态。
North East Europe harbors a high diversity of cultures and languages, suggesting a complex genetic history. Archaeological, anthropological, and genetic research has revealed a series of influences from Western and Eastern Eurasia in the past. While genetic data from modern-day populations is commonly used to make inferences about their origins and past migrations, ancient DNA provides a powerful test of such hypotheses by giving a snapshot of the past genetic diversity. In order to better understand the dynamics that have shaped the gene pool of North East Europeans, we generated and analyzed 34 mitochondrial genotypes from the skeletal remains of three archaeological sites in northwest Russia. These sites were dated to the Mesolithic and the Early Metal Age (7,500 and 3,500 uncalibrated years Before Present). We applied a suite of population genetic analyses (principal component analysis, genetic distance mapping, haplotype sharing analyses) and compared past demographic models through coalescent simulations using Bayesian Serial SimCoal and Approximate Bayesian Computation. Comparisons of genetic data from ancient and modern-day populations revealed significant changes in the mitochondrial makeup of North East Europeans through time. Mesolithic foragers showed high frequencies and diversity of haplogroups U (U2e, U4, U5a), a pattern observed previously in European hunter-gatherers from Iberia to Scandinavia. In contrast, the presence of mitochondrial DNA haplogroups C, D, and Z in Early Metal Age individuals suggested discontinuity with Mesolithic hunter-gatherers and genetic influx from central/eastern Siberia. We identified remarkable genetic dissimilarities between prehistoric and modern-day North East Europeans/Saami, which suggests an important role of post-Mesolithic migrations from Western Europe and subsequent population replacement/extinctions. This work demonstrates how ancient DNA can improve our understanding of human population movements across Eurasia. It contributes to the description of the spatio-temporal distribution of mitochondrial diversity and will be of significance for future reconstructions of the history of Europeans. The history of human populations can be retraced by studying the archaeological and anthropological record, but also by examining the current distribution of genetic markers, such as the maternally inherited mitochondrial DNA. Ancient DNA research allows the retrieval of DNA from ancient skeletal remains and contributes to the reconstruction of the human population history through the comparison of ancient and present-day genetic data. Here, we analysed the mitochondrial DNA of prehistoric remains from archaeological sites dated to 7,500 and 3,500 years Before Present. These sites are located in North East Europe, a region that displays a significant cultural and linguistic diversity today but for which no ancient human DNA was available before. We show that prehistoric hunter-gatherers of North East Europe were genetically similar to other European foragers. We also detected a prehistoric genetic input from Siberia, followed by migrations from Western Europe into North East Europe. Our research contributes to the understanding of the origins and past dynamics of human population in Europe.