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Cited by 31

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

Batini, Chiara, Hallast, Pille, Vågene, Åshild J., Zadik, Daniel, Eriksen, Heidi A., Pamjav, Horolma, Sajantila, Antti, Wetton, Jon H., Jobling, Mark A.·2017·Scientific Reports
DOI 10.1038/s41598-017-11307-9PMC PMC5608872
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Abstract

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.

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Figure 1 Phylogenies and geographical distributions of European mtDNA and MSY lineages. (a) Maximum-parsimony mtDNA tree, based on resequencing of 15,447 bp of the coding region. Branch lengths are proportional to molecular divergence among haplotypes, and colours indicate haplogroups. Point estimates of TMRCAs in KY are given in parentheses after haplogroup names; see also Table 1. (b) Map with pie-charts showing frequencies of mtDNA haplogroups (defined and coloured as in part (a)) in 17 populations from Europe and the Near East. Population abbreviations are as follows: bas: Spanish Basque country; bav: Bavaria (Germany); CEU: Utah residents with Northern and Western European ancestry from the CEPH collection (France); den: Denmark; eng: England;41,42 fri: Frisia (Netherlands); gre: Greece; hun: Hungary; ire: Ireland; nor: Norway; ork: Orkney;41,42 pal: Palestinians; saa: Saami (Finland); ser: Serbia; spa: central Spain; TSI: Toscani in Italia (Italy); tur: Turkey. Map from Mountain High Map Frontiers™ version 94.01 (Mountain High Maps® Copyright © 1993 Digital Wisdom®, Inc.; www.digiwis.com/dwi_frl.htm). (c) Maximum-parsimony MSY tree, based on resequencing of 3.7 Mb in each individual12. Branch lengths are proportional to molecular divergence among haplotypes, and colours indicate haplogroups. Point estimates of TMRCAs are given in parentheses after haplogroup names. (d) Map with pie-charts showing frequencies of MSY haplogroups (defined and coloured as in part (c)) in 17 populations from Europe and the Near East12. Population abbreviations are as in part (b). Map from Mountain High Map Frontiers™ version 94.01 (Mountain High Maps® Copyright © 1993 Digital Wisdom®, Inc.; www.digiwis.com/dwi_frl.htm).
Figure 1 Phylogenies and geographical distributions of European mtDNA and MSY lineages. (a) Maximum-parsimony mtDNA tree, based on resequencing of 15,447 bp of the coding region. Branch lengths are proportional to molecular divergence among haplotypes, and colours indicate haplogroups. Point estimates of TMRCAs in KY are given in parentheses after haplogroup names; see also Table 1. (b) Map with pie-charts showing frequencies of mtDNA haplogroups (defined and coloured as in part (a)) in 17 populations from Europe and the Near East. Population abbreviations are as follows: bas: Spanish Basque country; bav: Bavaria (Germany); CEU: Utah residents with Northern and Western European ancestry from the CEPH collection (France); den: Denmark; eng: England;41,42 fri: Frisia (Netherlands); gre: Greece; hun: Hungary; ire: Ireland; nor: Norway; ork: Orkney;41,42 pal: Palestinians; saa: Saami (Finland); ser: Serbia; spa: central Spain; TSI: Toscani in Italia (Italy); tur: Turkey. Map from Mountain High Map Frontiers™ version 94.01 (Mountain High Maps® Copyright © 1993 Digital Wisdom®, Inc.; www.digiwis.com/dwi_frl.htm). (c) Maximum-parsimony MSY tree, based on resequencing of 3.7 Mb in each individual12. Branch lengths are proportional to molecular divergence among haplotypes, and colours indicate haplogroups. Point estimates of TMRCAs are given in parentheses after haplogroup names. (d) Map with pie-charts showing frequencies of MSY haplogroups (defined and coloured as in part (c)) in 17 populations from Europe and the Near East12. Population abbreviations are as in part (b). Map from Mountain High Map Frontiers™ version 94.01 (Mountain High Maps® Copyright © 1993 Digital Wisdom®, Inc.; www.digiwis.com/dwi_frl.htm).CC BY · PubMed Central
Figure 2 Bayesian Skyline Plots for mtDNA and MSY. Thick lines (mtDNA: purple; MSY: orange) indicate the median for effective population size and thinner lines show 95% higher posterior density intervals. Population abbreviations are as in Fig. 1, and plots for MSY are adapted from Batini et al. (2015)12.
Figure 2 Bayesian Skyline Plots for mtDNA and MSY. Thick lines (mtDNA: purple; MSY: orange) indicate the median for effective population size and thinner lines show 95% higher posterior density intervals. Population abbreviations are as in Fig. 1, and plots for MSY are adapted from Batini et al. (2015)12.CC BY · PubMed Central

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Metadata

Authors
Batini, C., Hallast, P., Vågene, Å. J., Zadik, D., Eriksen, H. A., Pamjav, H., Sajantila, A., Wetton, J. H., & Jobling, M. A.
Venue
Scientific Reports
Publisher
Springer Science and Business Media LLC
Published
2017-09-21
Volume
7
Issue
1
ISSN
2045-2322
DOI
10.1038/s41598-017-11307-9
PMC
PMC5608872
Cited by
31
References
11
Language
en
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