Population resequencing of European mitochondrial genomes highlights sex-bias in Bronze Age demographic expansions.

• Published in: Scientific Reports
• Main Authors: Batini, Chiara, Hallast, Pille, Vågene, Åshild J., Zadik, Daniel, Eriksen, Heidi A., Pamjav, Horolma, Sajantila, Antti, Wetton, Jon H., Jobling, Mark A.
• Format: Article in Journal/Newspaper
• Language: English
• Published: Nature Publishing Group 2017
• Subjects: Biological anthropology; Genetic variation; Haplotypes; Lorna; Leicester; Aphrodite; saami
• Online Access: https://www.nature.com/articles/s41598-017-11307-9; http://hdl.handle.net/2381/40469; https://doi.org/10.1038/s41598-017-11307-9

Supplementary information accompanies this paper at doi:10.1038/s41598-017-11307-9 Interpretations of genetic data concerning the prehistory of Europe have long been a subject of great debate, but increasing amounts of ancient and modern DNA data are now providing new and more informative evidence. Y-chromosome resequencing studies in Europe have highlighted the prevalence of recent expansions of male lineages, and focused interest on the Bronze Age as a period of cultural and demographic change. These findings contrast with phylogeographic studies based on mitochondrial DNA (mtDNA), which have been interpreted as supporting expansions from glacial refugia. Here we have undertaken a population-based resequencing of complete mitochondrial genomes in Europe and the Middle East, in 340 samples from 17 populations for which Y-chromosome sequence data are also available. Demographic reconstructions show no signal of Bronze Age expansion, but evidence of Paleolithic expansions in all populations except the Saami, and with an absence of detectable geographical pattern. In agreement with previous inference from modern and ancient DNA data, the unbiased comparison between the mtDNA and Y-chromosome population datasets emphasizes the sex-biased nature of recent demographic transitions in Europe. We thank Eduardo Arroyo-Pardo, Walter Bodmer, Gianpiero Cavalleri, Peter de Knijff, Berit Myhre Dupuy, Turi King, Adolfo López de Munain, Ana López-Parra, Aphrodite Loutradis, Jelena Milasin, Andrea Novelletto, Aslıhan Tolun, and Bruce Winney for assistance with DNA samples, and helpful comments; Lorna Gregory and the Oxford Genomics Centre for library preparation, target enrichment and sequencing; Rita Neumann and Pierpaolo Maisano Delser for help with IonTorrent sequencing; NUCLEUS Genomic Services at the University of Leicester for access to Illumina MiSeq sequencing; and two anonymous reviewers for helpful comments on the manuscript. CB, PH, DZ and MAJ were supported by a Wellcome Trust Senior Fellowship, grant number 087576. AS was supported by the Finnish Foundations’ Professor Pool (Paulo Foundation). This research used the ALICE High Performance Computing Facility at the University of Leicester. Peer-reviewed Publisher Version