Patterns of genetic connectedness between modern and medieval Estonian genomes reveal the origins of a major ancestry component of the Finnish population
| Autor: | Ene Metspalu, Ruoyun Hui, Siiri Rootsi, Lehti Saag, Simone Andrea Biagini, Kadri Irdt, Lauri Saag, Eugenia D’Atanasio, Luca Pagani, Mait Metspalu, Tuuli Reisberg, Amy L. Williams, Christiana L. Scheib, Reedik Mägi, Daniel N. Seidman, Toomas Kivisild, Anu Solnik, Heiki Valk, Martin Malve, Vasili Pankratov, Kristiina Tambets |
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| Rok vydání: | 2021 |
| Předmět: |
Estonia
Male long shared allele intervals Social connectedness Human Migration imputation History 21st Century identity by descent Identity by descent Article Gene Frequency Genetics Humans Slavic languages DNA Ancient ancient DNA Alleles Finland History Ancient Genetics (clinical) Language Estonian Biobank Genome Human High-Throughput Nucleotide Sequencing medieval Estonian genomes population structure Estonian History Medieval Genealogy language.human_language Pedigree Geography Ancient DNA Finnish bottleneck language Female community structure Genetic isolate Imputation (genetics) Genealogy and Heraldry Founder effect |
| Zdroj: | American journal of human genetics 108 (2021): 1792–1806. doi:10.1016/j.ajhg.2021.07.012 info:cnr-pdr/source/autori:Kivisild, Toomas; Saag, Lehti; Hui, Ruoyun; Biagini, Simone Andrea; Pankratov, Vasili; D'Atanasio, Eugenia; Pagani, Luca; Saag, Lauri; Rootsi, Siiri; Mägi, Reedik; Metspalu, Ene; Valk, Heiki; Malve, Martin; Irdt, Kadri; Reisberg, Tuuli; Solnik, Anu; Scheib, Christiana L.; Seidman, Daniel N.; Williams, Amy L.; Tambets, Kristiina; Metspalu, Mait/titolo:Patterns of genetic connectedness between modern and medieval Estonian genomes reveal the origins of a major ancestry component of the Finnish population/doi:10.1016%2Fj.ajhg.2021.07.012/rivista:American journal of human genetics/anno:2021/pagina_da:1792/pagina_a:1806/intervallo_pagine:1792–1806/volume:108 Am J Hum Genet |
| ISSN: | 0002-9297 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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