Proc Natl Acad Sci U S A. 2018 Mar 27;115(13):3494-3499. doi: 10.1073/pnas.1719880115. Epub 2018 Mar 12.

Population genomic analysis of elongated skulls reveals extensive female-biased immigration in Early Medieval Bavaria.

Veeramah KR¹, Rott A², Groß M³, van Dorp L⁴, López S⁵, Kirsanow K³, Sell C³, Blöcher J³, Wegmann D^6,⁷, Link V^6,⁷, Hofmanová Z^6,⁷, Peters J^2,⁸, Trautmann B², Gairhos A⁹, Haberstroh J¹⁰, Päffgen B¹¹, Hellenthal G⁴, Haas-Gebhard B⁹, Harbeck M¹², Burger J¹³.

Author information

1: Department of Ecology and Evolution, Stony Brook University, Stony Brook, NY 11794-5245.
2: State Collection for Anthropology and Palaeoanatomy, Bavarian Natural History Collections, 80333 Munich, Germany.
3: Palaeogenetics Group, Institute of Organismic and Molecular Evolution, Johannes Gutenberg University Mainz, 55099 Mainz, Germany.
4: UCL Genetics Institute, Department of Genetics, Evolution and Environment, University College London, WC1E 6BT London, United Kingdom.
5: Cancer Institute, University College London, WC1E 6DD London, United Kingdom.
6: Department of Biology, University of Fribourg, 1700 Fribourg, Switzerland.
7: Swiss Institute of Bioinformatics, 1700 Fribourg, Switzerland.
8: ArchaeoBioCenter and Institute for Palaeoanatomy, Domestication Research and the History of Veterinary Medicine, Ludwig Maximilian University, 80539 Munich, Germany.
9: Bavarian State Archaeological Collection, 80538 Munich, Germany.
10: Bavarian State Department of Monuments and Sites, 80539 Munich, Germany.
11: Institute of Prehistoric and Protohistoric Archaeology, Ludwig Maximilian University, 80799 Munich, Germany.
12: State Collection for Anthropology and Palaeoanatomy, Bavarian Natural History Collections, 80333 Munich, Germany; Michaela.Harbeck@extern.lrz-muenchen.de jburger@uni-mainz.de.
13: Palaeogenetics Group, Institute of Organismic and Molecular Evolution, Johannes Gutenberg University Mainz, 55099 Mainz, Germany; Michaela.Harbeck@extern.lrz-muenchen.de jburger@uni-mainz.de.

Abstract

Modern European genetic structure demonstrates strong correlations with geography, while genetic analysis of prehistoric humans has indicated at least two major waves of immigration from outside the continent during periods of cultural change. However, population-level genome data that could shed light on the demographic processes occurring during the intervening periods have been absent. Therefore, we generated genomic data from 41 individuals dating mostly to the late 5th/early 6th century AD from present-day Bavaria in southern Germany, including 11 whole genomes (mean depth 5.56×). In addition we developed a capture array to sequence neutral regions spanning a total of 5 Mb and 486 functional polymorphic sites to high depth (mean 72×) in all individuals. Our data indicate that while men generally had ancestry that closely resembles modern northern and central Europeans, women exhibit a very high genetic heterogeneity; this includes signals of genetic ancestry ranging from western Europe to East Asia. Particularly striking are women with artificial skull deformations; the analysis of their collective genetic ancestry suggests an origin in southeastern Europe. In addition, functional variants indicate that they also differed in visible characteristics. This example of female-biased migration indicates that complex demographic processes during the Early Medieval period may have contributed in an unexpected way to shape the modern European genetic landscape. Examination of the panel of functional loci also revealed that many alleles associated with recent positive selection were already at modern-like frequencies in European populations ∼1,500 years ago.