A1 Vertaisarvioitu alkuperäisartikkeli tieteellisessä lehdessä
Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomes
Tekijät: Ilumäe Anne-Mai, Post Helen, Flores Rodrigo, Karmin Monika, Sahakyan Hovhannes, Mondal Mayukh, Montinaro Francesco, Saag Lauri, Bormans Concetta, Sanchez Luisa Fernanda, Ameur Adam, Gyllensten Ulf, Kals Mart, Mägi Reedik, Pagani Luca, Behar Doron M, Rootsi Siiri, Villems Richard
Kustantaja: SpringerNature
Julkaisuvuosi: 2021
Journal: European Journal of Human Genetics
Tietokannassa oleva lehden nimi: EUROPEAN JOURNAL OF HUMAN GENETICS
Lehden akronyymi: EUR J HUM GENET
Vuosikerta: 29
Aloitussivu: 1510
Lopetussivu: 1519
Sivujen määrä: 10
ISSN: 1018-4813
eISSN: 1476-5438
DOI: https://doi.org/10.1038/s41431-021-00897-8
Rinnakkaistallenteen osoite: https://research.utu.fi/converis/portal/Publication/59144280
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.
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