Tracing European Founder Lineages in the Near Eastern mtDNA Pool

Abstract

Founder analysis is a method for analysis of nonrecombining DNA sequence data, with the aim of identification and dating of migrations into new territory. The method picks out founder sequence types in potential source populations and dates lineage clusters deriving from them in the settlement zone of interest. Here, using mtDNA, we apply the approach to the colonization of Europe, to estimate the proportion of modern lineages whose ancestors arrived during each major phase of settlement. To estimate the Palaeolithic and Neolithic contributions to European mtDNA diversity more accurately than was previously achievable, we have now extended the Near Eastern, European, and northern-Caucasus databases to 1,234, 2,804, and 208 samples, respectively. Both back-migration into the source population and recurrent mutation in the source and derived populations represent major obstacles to this approach. We have developed phylogenetic criteria to take account of both these factors, and we suggest a way to account for multiple dispersals of common sequence types. We conclude that (i) there has been substantial back-migration into the Near East, (ii) the majority of extant mtDNA lineages entered Europe in several waves during the Upper Palaeolithic, (iii) there was a founder effect or bottleneck associated with the Last Glacial Maximum, 20,000 years ago, from which derives the largest fraction of surviving lineages, and (iv) the immigrant Neolithic component is likely to comprise less than one-quarter of the mtDNA pool of modern Europeans.

Human Y-chromosome variation in the Western Mediterranean area: implications for the peopling of the region

“…However, if this scenario is correct, the data also indicate that the Neolithic wave had a major genetic impact in the eastern and central part of the Mediterranean basin, but only negligible consequences in Iberia and Northwestern Europe. This is in agreement with autosomal [47], mtDNA [48,49], and other Y-chromosome data [7,41]. At the microgeographic level two haplogroups, HG25.2 and HG2.2, appear to be very informative.…”

Ancient mitochondrial lineages support the prehistoric maternal root of Basques in Northern Iberian Peninsula

“…Therefore, these findings show that subhaplogroup U3a, which probably arose in the Near East and entered the European continent with Neolithic migrations, 36 had already reached the western area of the European continent in the Bronze Age, about 3300 years ago. On the other hand, U5a2a was present in a Mesolithic population from Western Europe 7000 years ago, around its first appearance in Central Europe, 3 even though nowadays U5a2a is only found at very low frequencies in central and northern Europe.…”

Drawing the history of the Hutterite population on a genetic landscape: inference from Y-chromosome and mtDNA genotypes

“…MtDNA haplotypes were assigned to haplogroups by identifying key combinations of HVRI mutations according to Macaulay et al, 29 Richards et al, 30 Maca-Meyer et al, 31 and Brandstatter et al 32 as follows: 16069T, 16126C¼Mhg-J; 16069T, 16126C, 16145A,16261T¼Mhg-J1; 16069T, 16126C, 16193T¼Mhg-J2; 16224C, 16311C¼Mhg-K; 16126C, 16294T¼Mhg-T; 16126C, 16163G, 16186T, 16189C, 16294T¼Mhg-T1; 16126C, 16294T, 16304C¼Mhg-T2; 16126C, 16292T, 16294T¼Mhg-T3; 16249C¼Mhg-U1; 16051G¼Mhg-U2; 16343G¼Mhg-U3; 16356C¼Mhg-U4; 16270T¼Mhg-U5; 16172C, 16219G¼Mhg-U6; 16318T¼Mhg-U7; 16298C¼Mhg-V; 16223T, 16292T¼Mhg-W; 16189C, 16278T¼Mhg-X for the remaining haplotypes, those with a T at position 16223 were assigned to Mhg-N and those with a C at position 16223 were assigned to Mhg-H. For samples in which the entire mtDNA was sequenced, haplogroups were assigned following van Oven and Kayser 33 (http://www.phylotree.org/).…”