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Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomes
Univ Tartu, Inst Genom, Estonian Bioctr, Tartu, Estonia.;Univ Turku, Dept Biol, Turku, Finland..ORCID iD: 0000-0001-6920-1335
Univ Tartu, Inst Genom, Estonian Bioctr, Tartu, Estonia.;Univ Tartu, Inst Mol & Cell Biol, Dept Evolutionary Biol, Tartu, Estonia..
Univ Tartu, Inst Genom, Estonian Bioctr, Tartu, Estonia..
Univ Tartu, Inst Genom, Estonian Bioctr, Tartu, Estonia.;Massey Univ, Sch Fundamental Sci, Computat Biol Res Grp, Palmerston North, New Zealand..ORCID iD: 0000-0001-9827-5579
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2021 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 29, no 10, p. 1510-1519Article in journal (Refereed) Published
Abstract [en]

The most frequent Y-chromosomal (chrY) haplogroups in northern and eastern Europe (NEE) are well-known and thoroughly characterised. Yet a considerable number of men in every population carry rare paternal lineages with estimated frequencies around 5%. So far, limited sample-sizes and insufficient resolution of genotyping have obstructed a truly comprehensive look into the variety of rare paternal lineages segregating within populations and potential signals of population history that such lineages might convey. Here we harness the power of massive re-sequencing of human Y chromosomes to identify previously unknown population-specific clusters among rare paternal lineages in NEE. We construct dated phylogenies for haplogroups E2-M215, J2-M172, G-M201 and Q-M242 on the basis of 421 (of them 282 novel) high-coverage chrY sequences collected from large-scale databases focusing on populations of NEE. Within these otherwise rare haplogroups we disclose lineages that began to radiate similar to 1-3 thousand years ago in Estonia and Sweden and reveal male phylogenetic patterns testifying of comparatively recent local demographic expansions. Conversely, haplogroup Q lineages bear evidence of ancient Siberian influence lingering in the modern paternal gene pool of northern Europe. We assess the possible direction of influx of ancestral carriers for some of these male lineages. In addition, we demonstrate the congruency of paternal haplogroup composition of our dataset with two independent population-based cohorts from Estonia and Sweden.

Place, publisher, year, edition, pages
SPRINGERNATURE Springer Nature, 2021. Vol. 29, no 10, p. 1510-1519
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Evolutionary Biology
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URN: urn:nbn:se:uu:diva-470069DOI: 10.1038/s41431-021-00897-8ISI: 000648006100001PubMedID: 33958743OAI: oai:DiVA.org:uu-470069DiVA, id: diva2:1648380
Funder
EU, Horizon 2020, 810645Available from: 2022-03-30 Created: 2022-03-30 Last updated: 2024-01-15Bibliographically approved

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Ameur, AdamGyllensten, Ulf B.

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Ilumae, Anne-MaiKarmin, MonikaSahakyan, HovhannesMondal, MayukhAmeur, AdamGyllensten, Ulf B.
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Department of Immunology, Genetics and PathologyScience for Life Laboratory, SciLifeLabUppsala Clinical Research Center (UCR)Medicinsk genetik och genomik
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European Journal of Human Genetics
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