Clio Der Sarkissian et al., Ancient DNA Reveals Prehistoric Gene-Flow from Siberia in the Complex Human Population History of North East Europe. PLoS Genetics, 2013. Open access → LINK [doi:10.1371/journal.pgen.1003296]
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.
As you may realize, the Sardinian sequences discussed also in the thesis are not part of this paper. Also the emphasis is on the presence of Oriental lineages (C*, C1, C5, D* and Z1a) in North-Eastern Europe prior to the Neolithic, which is, no doubt another element of interest.
|Table 1. Results for mitochondrial DNA typing|
Yuzhni Oleni Ostrov is in Karelia,Popovo in Northern Russia and Bol'shoy in Sápmi (Lapland)
As mentioned in the previous entry there is another (not shown) 13th century Sámi sample (Chalmny-Varre) which is totally modern in composition: dominated by haplogroup V7e and complemented by U5b1b1 and U5a1.
The simulations performed by the authors suggest that:
The model of genetic continuity between aUzPo and present-day Saami was found to fit the observed data better than the model of genetic continuity between aUzPo and present-day NEE.
The model also suggests that modern NE Europeans from the area (Russian, Finns and even to some extent Karelians and Volga-Ural peoples) are product of later migration from Central Europe, however they could not test this for the Saami because they could not find a plausible source population for them.
This is maybe best visualized in figure 2:
|Figure 2. Principal Component Analysis of mitochondrial haplogroup frequencies.|
In this graph the Sámi look rather continuous with ancient locals but they show even more continuity with ancient Pitted Ware populations from the Baltic (aPWC, Chalcolithic semi-foragers with possible roots in Eastern European Neolithic) and related "foragers" from NE Poland and Lithuania (corresponding to various periods, even Chalcolithic in some cases), as well as more genuine pre-Neolithic hunter-gatherers from Germany (all them pooled as aHG).
It must be mentioned in any case that there is no single known case of haplogroup V in any pre-Neolithic sample (neither in Europe, nor anywhere else). And this one makes up the bulk of modern Sámi mtDNA pool.
* Other such strongly confirmed haplogroup H (mtDNA) sequences were also reported last year for Northern Iberia Paleolithic and Epipaleolithic remains. Many other Paleolithic sequences are suspect but have only been tested for the Hyper-Variable Region (HVS), which is often not conclusive for this haplogroup, causing in the recent past some people to (wrongly) reject the presence of this lineage, now the most common in Europe, before the Neolithic. Now we know that it did exist in both Northern and Southern Europe, although many questions remain on its commonality and history.