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


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          Many modern European states trace their roots back to a period known as the Migration Period that spans from Late Antiquity to the early Middle Ages. We have conducted the first population-level analysis of people from this era, generating genomic data from 41 graves from archaeological sites in present-day Bavaria in southern Germany mostly dating to around 500 AD. While they are predominantly of northern/central European ancestry, we also find significant evidence for a nonlocal genetic provenance that is highly enriched among resident Early Medieval women, demonstrating artificial skull deformation. We infer that the most likely origin of the majority of these women was southeastern Europe, resolving a debate that has lasted for more than half a century.


          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.

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          Most cited references29

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          The magnitudes of the systematic biases involved in sample heterozygosity and sample genetic distances are evaluated, and formulae for obtaining unbiased estimates of average heterozygosity and genetic distance are developed. It is also shown that the number of individuals to be used for estimating average heterozygosity can be very small if a large number of loci are studied and the average heterozygosity is low. The number of individuals to be used for estimating genetic distance can also be very small if the genetic distance is large and the average heterozygosity of the two species compared is low.
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            Patterns of damage in genomic DNA sequences from a Neandertal.

            High-throughput direct sequencing techniques have recently opened the possibility to sequence genomes from Pleistocene organisms. Here we analyze DNA sequences determined from a Neandertal, a mammoth, and a cave bear. We show that purines are overrepresented at positions adjacent to the breaks in the ancient DNA, suggesting that depurination has contributed to its degradation. We furthermore show that substitutions resulting from miscoding cytosine residues are vastly overrepresented in the DNA sequences and drastically clustered in the ends of the molecules, whereas other substitutions are rare. We present a model where the observed substitution patterns are used to estimate the rate of deamination of cytosine residues in single- and double-stranded portions of the DNA, the length of single-stranded ends, and the frequency of nicks. The results suggest that reliable genome sequences can be obtained from Pleistocene organisms.
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              A genetic atlas of human admixture history.

              Modern genetic data combined with appropriate statistical methods have the potential to contribute substantially to our understanding of human history. We have developed an approach that exploits the genomic structure of admixed populations to date and characterize historical mixture events at fine scales. We used this to produce an atlas of worldwide human admixture history, constructed by using genetic data alone and encompassing over 100 events occurring over the past 4000 years. We identified events whose dates and participants suggest they describe genetic impacts of the Mongol empire, Arab slave trade, Bantu expansion, first millennium CE migrations in Eastern Europe, and European colonialism, as well as unrecorded events, revealing admixture to be an almost universal force shaping human populations.

                Author and article information

                Proc Natl Acad Sci U S A
                Proc. Natl. Acad. Sci. U.S.A
                Proceedings of the National Academy of Sciences of the United States of America
                National Academy of Sciences
                27 March 2018
                12 March 2018
                12 March 2018
                : 115
                : 13
                : 3494-3499
                [1] aDepartment of Ecology and Evolution, Stony Brook University , Stony Brook, NY 11794-5245;
                [2] bState Collection for Anthropology and Palaeoanatomy, Bavarian Natural History Collections , 80333 Munich, Germany;
                [3] cPalaeogenetics Group, Institute of Organismic and Molecular Evolution, Johannes Gutenberg University Mainz , 55099 Mainz, Germany;
                [4] dUCL Genetics Institute, Department of Genetics, Evolution and Environment, University College London , WC1E 6BT London, United Kingdom;
                [5] eCancer Institute, University College London , WC1E 6DD London, United Kingdom;
                [6] fDepartment of Biology, University of Fribourg , 1700 Fribourg, Switzerland;
                [7] gSwiss Institute of Bioinformatics , 1700 Fribourg, Switzerland;
                [8] hArchaeoBioCenter and Institute for Palaeoanatomy, Domestication Research and the History of Veterinary Medicine, Ludwig Maximilian University , 80539 Munich, Germany;
                [9] iBavarian State Archaeological Collection , 80538 Munich, Germany;
                [10] jBavarian State Department of Monuments and Sites , 80539 Munich, Germany;
                [11] kInstitute of Prehistoric and Protohistoric Archaeology, Ludwig Maximilian University , 80799 Munich, Germany
                Author notes
                3To whom correspondence may be addressed. Email: Michaela.Harbeck@ 123456extern.lrz-muenchen.de or jburger@ 123456uni-mainz.de .

                Edited by Eske Willerslev, University of Copenhagen, Copenhagen, Denmark, and approved January 30, 2018 (received for review November 21, 2017)

                Author contributions: K.R.V., M.G., K.K., B.H.-G., M.H., and J. Burger designed research; K.R.V., A.R., M.G., L.v.D., S.L., C.S., D.W., B.T., G.H., M.H., and J. Burger performed research; K.R.V., J.P., A.G., J.H., B.P., and B.H.-G. contributed new reagents/analytic tools; K.R.V., A.R., M.G., L.v.D., S.L., C.S., J. Blöcher, V.L., Z.H., and J. Burger analyzed data; and K.R.V., A.R., M.G., L.v.D., D.W., G.H., B.H.-G., M.H., and J. Burger wrote the paper.

                1A.R. and M.G. contributed equally to this work.

                2M.H. and J. Burger contributed equally to this work.

                Author information
                Copyright © 2018 the Author(s). Published by PNAS.

                This open access article is distributed under Creative Commons Attribution-NonCommercial-NoDerivatives License 4.0 (CC BY-NC-ND).

                Page count
                Pages: 6
                Funded by: Volkswagen Foundation 501100001663
                Award ID: FKZ: 87161
                Funded by: Deutsche Forschungsgemeinschaft (DFG) 501100001659
                Award ID: BO 4119/1
                Funded by: Isaac Newton Trust 501100004815
                Award ID: MR/P007597/1
                Funded by: National Science Foundation (NSF) 100000001
                Award ID: 1450606
                Funded by: Deutsche Forschungsgemeinschaft (DFG) 501100001659
                Award ID: INST 247/602-1 FUGG
                Biological Sciences
                Population Biology

                paleogenomics,demographic inference,population genetics,early medieval,migration period


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