Refereed journal article or data article (A1)

Phylogenetic history of patrilineages rare in northern and eastern Europe from large-scale re-sequencing of human Y-chromosomes

List of Authors: 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

Publisher: SpringerNature

Publication year: 2021

Journal: European Journal of Human Genetics


Journal acronym: EUR J HUM GENET

Volume number: 29

Number of pages: 10

ISSN: 1018-4813

eISSN: 1476-5438


Self-archived copy’s web address:

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.

Downloadable publication

This is an electronic reprint of the original article.
This reprint may differ from the original in pagination and typographic detail. Please cite the original version.

Last updated on 2022-17-01 at 10:11