Search

The Finnish population is a unique example of a genetic isolate affected by a recent founder event. Previous studies have suggested that the ancestors of Finnic-speaking Finns and Estonians reached the circum-Baltic region by the 1(st) millennium BC. However, high linguistic similarity points to a more recent split of their languages. To study genetic connectedness between Finns and Estonians directly, we first assessed the efficacy of imputation of low-coverage ancient genomes by sequencing a medieval Estonian genome to high depth (23×) and evaluated the performance of its down-sampled replicas. We find that ancient genomes imputed from >0.1× coverage can be reliably used in principal-component analyses without projection. By searching for long shared allele intervals (LSAIs; similar to identity-by-descent segments) in unphased data for >143,000 present-day Estonians, 99 Finns, and 14 imputed ancient genomes from Estonia, we find unexpectedly high levels of individual connectedness between Estonians and Finns for the last eight centuries in contrast to their clear differentiation by allele frequencies. High levels of sharing of these segments between Estonians and Finns predate the demographic expansion and late settlement process of Finland. One plausible source of this extensive sharing is the 8(th)–10(th) centuries AD migration event from North Estonia to Finland that has been proposed to explain uniquely shared linguistic features between the Finnish language and the northern dialect of Estonian and shared Christianity-related loanwords from Slavic. These results suggest that LSAI detection provides a computationally tractable way to detect fine-scale structure in large cohorts.

Poster presented at the Human Evolution, held between 30th Octuber and 1st November in 2019, in Cambridge (UK)., Unlike other European countries, Metropolitan France is surprisingly understudied. We have combined newly genotyped samples from various zones in France with publicly available data and applied both allele frequency and haplotype-based methods in order to describe the internal structure of this country, taking advantage of the Human Origins SNP array, specifically designed for human population genetics studies. We found out that French Basques are genetically distinct from all other populations in the Hexagone and that the populations from southwest France (namely the Franco-Cantabrian region) are intermediate between Basques and other populations. Moreover, Bretons slightly separated from the rest of the groups and a link with the historical gene flow from the British Isles has been found. Results from the allele frequency analyses point to a general background that appears to be a mixture of two components, one closer to Southern Italy and the other to Ireland. This combination may be the result of a contact that happened in two different moments: in the Early Neolithic, and then Ireland would be a proxy for the continental pathway for the Neolithic wave of advance and South Italy for the coastal penetration, or the Iron Age, when the Celtic and the Mediterranean worlds met in France. On the other hand, results from the haplotype-based methods describe a more structured landscape, highlighting the presence of areas characterized by differential links with the neighboring populations, possibly reflecting a more recent history.