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1. Using Y-chromosome capture enrichment to resolve haplogroup H2 shows new evidence for a two-path Neolithic expansion to Western Europe

Author

Adam B. Rohrlach, Luka Papac, Ainash Childebayeva, Maïté Rivollat, Vanessa Villalba-Mouco, Gunnar U. Neumann, Sandra Penske, Eirini Skourtanioti, Marieke van de Loosdrecht, Murat Akar, Kamen Boyadzhiev, Yavor Boyadzhiev, Marie-France Deguilloux, Miroslav Dobeš, Yilmaz S. Erdal, Michal Ernée, Marcella Frangipane, Mirosław Furmanek, Susanne Friederich, Emmanuel Ghesquière, Agata Hałuszko, Svend Hansen, Mario Küßner, Marcello Mannino, Rana Özbal, Sabine Reinhold, Stéphane Rottier, Domingo Carlos Salazar-García, Jorge Soler Diaz, Philipp W. Stockhammer, Consuelo Roca de Togores Muñoz, K. Aslihan Yener, Cosimo Posth, Johannes Krause, Alexander Herbig, and Wolfgang Haak

Subjects
Medicine, Science
Abstract

Abstract Uniparentally-inherited markers on mitochondrial DNA (mtDNA) and the non-recombining regions of the Y chromosome (NRY), have been used for the past 30 years to investigate the history of humans from a maternal and paternal perspective. Researchers have preferred mtDNA due to its abundance in the cells, and comparatively high substitution rate. Conversely, the NRY is less susceptible to back mutations and saturation, and is potentially more informative than mtDNA owing to its longer sequence length. However, due to comparatively poor NRY coverage via shotgun sequencing, and the relatively low and biased representation of Y-chromosome variants on capture assays such as the 1240 k, ancient DNA studies often fail to utilize the unique perspective that the NRY can yield. Here we introduce a new DNA enrichment assay, coined YMCA (Y-mappable capture assay), that targets the "mappable" regions of the NRY. We show that compared to low-coverage shotgun sequencing and 1240 k capture, YMCA significantly improves the mean coverage and number of sites covered on the NRY, increasing the number of Y-haplogroup informative SNPs, and allowing for the identification of previously undiscovered variants. To illustrate the power of YMCA, we show that the analysis of ancient Y-chromosome lineages can help to resolve Y-chromosomal haplogroups. As a case study, we focus on H2, a haplogroup associated with a critical event in European human history: the Neolithic transition. By disentangling the evolutionary history of this haplogroup, we further elucidate the two separate paths by which early farmers expanded from Anatolia and the Near East to western Europe.

Published
2021
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2. Ancient genomes reveal social and genetic structure of Late Neolithic Switzerland

Author

Anja Furtwängler, A. B. Rohrlach, Thiseas C. Lamnidis, Luka Papac, Gunnar U. Neumann, Inga Siebke, Ella Reiter, Noah Steuri, Jürgen Hald, Anthony Denaire, Bernadette Schnitzler, Joachim Wahl, Marianne Ramstein, Verena J. Schuenemann, Philipp W. Stockhammer, Albert Hafner, Sandra Lösch, Wolfgang Haak, Stephan Schiffels, and Johannes Krause

Subjects
Science
Abstract

European populations underwent strong genetic changes during the Neolithic. Here, Furtwängler et al. provide ancient nuclear and mitochondrial genomic data from the region of Switzerland during the end of the Neolithic and the Early Bronze Age that reveal a complex genetic turnover during the arrival of steppe ancestry.

Published
2020
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3. Author Correction: Ancient genomes reveal social and genetic structure of Late Neolithic Switzerland

Author

Anja Furtwängler, A. B. Rohrlach, Thiseas C. Lamnidis, Luka Papac, Gunnar U. Neumann, Inga Siebke, Ella Reiter, Noah Steuri, Jürgen Hald, Anthony Denaire, Bernadette Schnitzler, Joachim Wahl, Marianne Ramstein, Verena J. Schuenemann, Philipp W. Stockhammer, Albert Hafner, Sandra Lösch, Wolfgang Haak, Stephan Schiffels, and Johannes Krause

Subjects
Science
Abstract

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

Published
2020
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5. The Anglo-Saxon migration and the formation of the early English gene pool

Author

Joscha Gretzinger, Duncan Sayer, Pierre Justeau, Eveline Altena, Maria Pala, Katharina Dulias, Ceiridwen J. Edwards, Susanne Jodoin, Laura Lacher, Susanna Sabin, Åshild J. Vågene, Wolfgang Haak, S. Sunna Ebenesersdóttir, Kristjan H. S. Moore, Rita Radzeviciute, Kara Schmidt, Selina Brace, Martina Abenhus Bager, Nick Patterson, Luka Papac, Nasreen Broomandkhoshbacht, Kimberly Callan, Éadaoin Harney, Lora Iliev, Ann Marie Lawson, Megan Michel, Kristin Stewardson, Fatma Zalzala, Nadin Rohland, Stefanie Kappelhoff-Beckmann, Frank Both, Daniel Winger, Daniel Neumann, Lars Saalow, Stefan Krabath, Sophie Beckett, Melanie Van Twest, Neil Faulkner, Chris Read, Tabatha Barton, Joanna Caruth, John Hines, Ben Krause-Kyora, Ursula Warnke, Verena J. Schuenemann, Ian Barnes, Hanna Dahlström, Jane Jark Clausen, Andrew Richardson, Elizabeth Popescu, Natasha Dodwell, Stuart Ladd, Tom Phillips, Richard Mortimer, Faye Sayer, Diana Swales, Allison Stewart, Dominic Powlesland, Robert Kenyon, Lilian Ladle, Christina Peek, Silke Grefen-Peters, Paola Ponce, Robin Daniels, Cecily Spall, Jennifer Woolcock, Andy M. Jones, Amy V. Roberts, Robert Symmons, Anooshka C. Rawden, Alan Cooper, Kirsten I. Bos, Tom Booth, Hannes Schroeder, Mark G. Thomas, Agnar Helgason, Martin B. Richards, David Reich, Johannes Krause, and Stephan Schiffels

Subjects
Male, Multidisciplinary, Genome, Human, Denmark, Human Migration, Population Dynamics, Gene Pool, History, Medieval, Genetics, Population, Archaeology, England, Germany, Humans, Female, France, DNA, Ancient, Weapons, Language
Abstract

The history of the British Isles and Ireland is characterized by multiple periods of major cultural change, including the influential transformation after the end of Roman rule, which precipitated shifts in language, settlement patterns and material culture1. The extent to which migration from continental Europe mediated these transitions is a matter of long-standing debate2–4. Here we study genome-wide ancient DNA from 460 medieval northwestern Europeans—including 278 individuals from England—alongside archaeological data, to infer contemporary population dynamics. We identify a substantial increase of continental northern European ancestry in early medieval England, which is closely related to the early medieval and present-day inhabitants of Germany and Denmark, implying large-scale substantial migration across the North Sea into Britain during the Early Middle Ages. As a result, the individuals who we analysed from eastern England derived up to 76% of their ancestry from the continental North Sea zone, albeit with substantial regional variation and heterogeneity within sites. We show that women with immigrant ancestry were more often furnished with grave goods than women with local ancestry, whereas men with weapons were as likely not to be of immigrant ancestry. A comparison with present-day Britain indicates that subsequent demographic events reduced the fraction of continental northern European ancestry while introducing further ancestry components into the English gene pool, including substantial southwestern European ancestry most closely related to that seen in Iron Age France

Published
2022

6. Stone Age

Author

Aida, Andrades Valtueña, Gunnar U, Neumann, Maria A, Spyrou, Lyazzat, Musralina, Franziska, Aron, Arman, Beisenov, Andrey B, Belinskiy, Kirsten I, Bos, Alexandra, Buzhilova, Matthias, Conrad, Leyla B, Djansugurova, Miroslav, Dobeš, Michal, Ernée, Javier, Fernández-Eraso, Bruno, Frohlich, Mirosław, Furmanek, Agata, Hałuszko, Svend, Hansen, Éadaoin, Harney, Alina N, Hiss, Alexander, Hübner, Felix M, Key, Elmira, Khussainova, Egor, Kitov, Alexandra O, Kitova, Corina, Knipper, Denise, Kühnert, Carles, Lalueza-Fox, Judith, Littleton, Ken, Massy, Alissa, Mittnik, José Antonio, Mujika-Alustiza, Iñigo, Olalde, Luka, Papac, Sandra, Penske, Jaroslav, Peška, Ron, Pinhasi, David, Reich, Sabine, Reinhold, Raphaela, Stahl, Harald, Stäuble, Rezeda I, Tukhbatova, Sergey, Vasilyev, Elizaveta, Veselovskaya, Christina, Warinner, Philipp W, Stockhammer, Wolfgang, Haak, Johannes, Krause, and Alexander, Herbig

Subjects
Plague, Yersinia pestis, Human Migration, Animals, Genetic Variation, Humans, Animal Husbandry, DNA, Ancient, Genome, Bacterial, History, Ancient, Phylogeny
Abstract

The bacterial pathogen Yersinia pestis gave rise to devastating outbreaks throughout human history, and ancient DNA evidence has shown it afflicted human populations as far back as the Neolithic. Y. pestis genomes recovered from the Eurasian Late Neolithic/Early Bronze Age (LNBA) period have uncovered key evolutionary steps that led to its emergence from a Yersinia pseudotuberculosis-like progenitor; however, the number of reconstructed LNBA genomes are too few to explore its diversity during this critical period of development. Here, we present 17 Y. pestis genomes dating to 5,000 to 2,500 y BP from a wide geographic expanse across Eurasia. This increased dataset enabled us to explore correlations between temporal, geographical, and genetic distance. Our results suggest a nonflea-adapted and potentially extinct single lineage that persisted over millennia without significant parallel diversification, accompanied by rapid dispersal across continents throughout this period, a trend not observed in other pathogens for which ancient genomes are available. A stepwise pattern of gene loss provides further clues on its early evolution and potential adaptation. We also discover the presence of the flea-adapted form of Y. pestis in Bronze Age Iberia, previously only identified in in the Caucasus and the Volga regions, suggesting a much wider geographic spread of this form of Y. pestis. Together, these data reveal the dynamic nature of plague’s formative years in terms of its early evolution and ecology.

Published
2022

7. Stone Age Yersinia pestis genomes shed light on the early evolution, diversity, and ecology of plague

Author

Aida Andrades Valtueña, Gunnar U. Neumann, Maria A. Spyrou, Lyazzat Musralina, Franziska Aron, Arman Beisenov, Andrey B. Belinskiy, Kirsten I. Bos, Alexandra Buzhilova, Matthias Conrad, Leyla B. Djansugurova, Miroslav Dobeš, Michal Ernée, Javier Fernández-Eraso, Bruno Frohlich, Mirosław Furmanek, Agata Hałuszko, Svend Hansen, Éadaoin Harney, Alina N. Hiss, Alexander Hübner, Felix M. Key, Elmira Khussainova, Egor Kitov, Alexandra O. Kitova, Corina Knipper, Denise Kühnert, Carles Lalueza-Fox, Judith Littleton, Ken Massy, Alissa Mittnik, José Antonio Mujika-Alustiza, Iñigo Olalde, Luka Papac, Sandra Penske, Jaroslav Peška, Ron Pinhasi, David Reich, Sabine Reinhold, Raphaela Stahl, Harald Stäuble, Rezeda I. Tukhbatova, Sergey Vasilyev, Elizaveta Veselovskaya, Christina Warinner, Philipp W. Stockhammer, Wolfgang Haak, Johannes Krause, Alexander Herbig, Max Planck Society, Max Planck - Harvard Research Center for the Archaeoscience of the Ancient Mediterranean, European Research Council, Heidelberg Academy of Sciences and Humanities, Academy of Sciences of the Czech Republic, Ministerio de Ciencia e Innovación (España), German Research Foundation, Diputación Foral de Álava, Eusko Jaurlaritza, and Ministry of Education and Science (Kazakhstan)

Subjects
Plague, Multidisciplinary, Ancient DNA, Yersinia pestis
Abstract

[Significance] The bacterium Yersinia pestis has caused numerous historically documented outbreaks of plague and research using ancient DNA could demonstrate that it already affected human populations during the Neolithic. However, the pathogen’s genetic diversity, geographic spread, and transmission dynamics during this early period of Y. pestis evolution are largely unexplored. Here, we describe a set of ancient plague genomes up to 5,000 y old from across Eurasia. Our data demonstrate that two genetically distinct forms of Y. pestis evolved in parallel and were both distributed across vast geographic distances, potentially occupying different ecological niches. Interpreted within the archeological context, our results suggest that the spread of plague during this period was linked to increased human mobility and intensification of animal husbandry., The bacterial pathogen Yersinia pestis gave rise to devastating outbreaks throughout human history, and ancient DNA evidence has shown it afflicted human populations as far back as the Neolithic. Y. pestis genomes recovered from the Eurasian Late Neolithic/Early Bronze Age (LNBA) period have uncovered key evolutionary steps that led to its emergence from a Yersinia pseudotuberculosis-like progenitor; however, the number of reconstructed LNBA genomes are too few to explore its diversity during this critical period of development. Here, we present 17 Y. pestis genomes dating to 5,000 to 2,500 y BP from a wide geographic expanse across Eurasia. This increased dataset enabled us to explore correlations between temporal, geographical, and genetic distance. Our results suggest a nonflea-adapted and potentially extinct single lineage that persisted over millennia without significant parallel diversification, accompanied by rapid dispersal across continents throughout this period, a trend not observed in other pathogens for which ancient genomes are available. A stepwise pattern of gene loss provides further clues on its early evolution and potential adaptation. We also discover the presence of the flea-adapted form of Y. pestis in Bronze Age Iberia, previously only identified in in the Caucasus and the Volga regions, suggesting a much wider geographic spread of this form of Y. pestis. Together, these data reveal the dynamic nature of plague’s formative years in terms of its early evolution and ecology., This study was funded by the Max Planck Society, Max Planck Harvard Research Center for the Archaeoscience of the Ancient Mediterranean and the European Research Council under the European Union’s Horizon 2020 research and innovation program under Grant Agreement 771234 – PALEoRIDER (to W.H.), 856453 – HistoGenes (to J.K.), and 834616 – ARCHCAUCASUS (to S.H.). The Heidelberg Academy of Science financed the genetic and archeological research on human individuals from the Augsburg region within the project WIN Kolleg: “Times of Upheaval: Changes of Society and Landscape at the Beginning of the Bronze Age. M.E. was supported by the award “Praemium Academiae” of the Czech Academy of Sciences. M.D. was supported by the project RVO 67985912 of the Institute of Archaeology of the Czech Academy of Sciences, Prague. I.O. was supported by the Ramón y Cajal grant from Ministerio de Ciencia e Innovación, Spanish Government (RYC2019-027909-I). A. H€ubner was supported by the Deutsche Forschungsgemeinschaft under Germany’s Excellence Strategy (EXC 2051 – Project-ID 390713860). J.F.-E. and J.A.M.-A. were supported by the Diputación Foral de Alava, IT 1223-19, Gobierno Vasco. A. Buzhilova was supported by the Center of Information Technologies and Systems (CITIS), Moscow, Russia 121041500329-0. L. M., L.B.D., and E. Khussainova were supported by the Grant AP08856654, Ministry of Education and Science of the Republic of Kazakhstan. A. Beisenov was supported by the Grant AP08857177, Ministry of Education and Science of the Republic of Kazakhstan.

Published
2022

8. Author Correction: The Anglo-Saxon migration and the formation of the early English gene pool

Author

Joscha Gretzinger, Duncan Sayer, Pierre Justeau, Eveline Altena, Maria Pala, Katharina Dulias, Ceiridwen J. Edwards, Susanne Jodoin, Laura Lacher, Susanna Sabin, Åshild J. Vågene, Wolfgang Haak, S. Sunna Ebenesersdóttir, Kristjan H. S. Moore, Rita Radzeviciute, Kara Schmidt, Selina Brace, Martina Abenhus Bager, Nick Patterson, Luka Papac, Nasreen Broomandkhoshbacht, Kimberly Callan, Éadaoin Harney, Lora Iliev, Ann Marie Lawson, Megan Michel, Kristin Stewardson, Fatma Zalzala, Nadin Rohland, Stefanie Kappelhoff-Beckmann, Frank Both, Daniel Winger, Daniel Neumann, Lars Saalow, Stefan Krabath, Sophie Beckett, Melanie Van Twest, Neil Faulkner, Chris Read, Tabatha Barton, Joanna Caruth, John Hines, Ben Krause-Kyora, Ursula Warnke, Verena J. Schuenemann, Ian Barnes, Hanna Dahlström, Jane Jark Clausen, Andrew Richardson, Elizabeth Popescu, Natasha Dodwell, Stuart Ladd, Tom Phillips, Richard Mortimer, Faye Sayer, Diana Swales, Allison Stewart, Dominic Powlesland, Robert Kenyon, Lilian Ladle, Christina Peek, Silke Grefen-Peters, Paola Ponce, Robin Daniels, Cecily Spall, Jennifer Woolcock, Andy M. Jones, Amy V. Roberts, Robert Symmons, Anooshka C. Rawden, Alan Cooper, Kirsten I. Bos, Tom Booth, Hannes Schroeder, Mark G. Thomas, Agnar Helgason, Martin B. Richards, David Reich, Johannes Krause, and Stephan Schiffels

Subjects
Multidisciplinary
Published
2022

9. Using Y-chromosome capture enrichment to resolve haplogroup H2 shows new evidence for a two-path Neolithic expansion to Western Europe

Author

Marie-France Deguilloux, Agata Hałuszko, Maïté Rivollat, Sandra Penske, J. S. Díaz, Michal Ernée, Eirini Skourtanioti, Miroslav Dobeš, Cosimo Posth, Mario Küßner, Stéphane Rottier, Gunnar U. Neumann, Emmanuel Ghesquière, Susanne Friederich, Yılmaz Selim Erdal, Adam Ben Rohrlach, Rana Özbal, Svend Hansen, Marcella Frangipane, Marcello A. Mannino, Ainash Childebayeva, Consuelo Roca de Togores Muñoz, Sabine Reinhold, Murat Akar, Wolfgang Haak, Alexander Herbig, Luka Papac, Yavor Boyadzhiev, Domingo C. Salazar-García, Vanessa Villalba-Mouco, Kamen Boyadzhiev, Johannes Krause, K. Aslıhan Yener, Mirosław Furmanek, Marieke Sophia van de Loosdrecht, Philipp W. Stockhammer, European Commission, Max Planck Institute for the Science of Human History (MPI-SHH), Max-Planck-Gesellschaft, University of Adelaide, De la Préhistoire à l'Actuel : Culture, Environnement et Anthropologie (PACEA), Université de Bordeaux (UB)-Centre National de la Recherche Scientifique (CNRS), Spanish National Research Council (CSIC), Mustafa Kemal University, Bulgarian Academy of Sciences (BAS), Czech Academy of Sciences [Prague] (CAS), Hacettepe University = Hacettepe Üniversitesi, Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome], University of Wrocław [Poland] (UWr), State Office for Heritage Management and Archaeology Saxony-Anhalt - State Museum of Prehistory, Institut national de recherches archéologiques préventives (Inrap), Centre de Recherche en Archéologie, Archéosciences, Histoire (CReAAH), Le Mans Université (UM)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université de Rennes 2 (UR2), Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Ministère de la Culture (MC)-Nantes Université (NU), German Archaeological Institute (DAI), Aarhus University [Aarhus], Koç University, Basque Foundation for Science (Ikerbasque), University of Cape Town, Departamento de Inteligencia Artificial [UPM, Spain] (DIA), Universidad Politécnica de Madrid (UPM), Universitat de València (UV), Medizinische Klinik und Poliklinik III [Bonn, Germany], Universitätsklinikum Bonn (UKB), MARQ - Museo Arqueológico Provincial de Alicante (MARQ), Ludwig Maximilian University [Munich] (LMU), New York University [New York] (NYU), NYU System (NYU), Eberhard Karls Universität Tübingen = Eberhard Karls University of Tuebingen, University of South Australia [Adelaide], Max Planck Society Foundation CELLEX, French (ANR) French National Research Agency (ANR), German (DFG) Research Foundations under the INTERACT project German Research Foundation (DFG) [ANR17-FRAL-0010, DFG-HA-5407/4-1], European Research Council (ERC) under the European Union European Research Council (ERC) [771234-PALEoRIDER], Czech Academy of Sciences Czech Academy of Sciences, Institute of Archaeology of the Czech Academy of Sciences, Prague Czech Academy of Sciences [RVO 67985912], Projekt DEAL, ANR-17-FRAL-0010,INTERACT,Interactions entre groupes humains en Europe de l'Ouest durant la transition Mésolithique-Néolithique: la double perspective des échanges biologiques et culturels(2017), Özbal, Rana (ORCID 0000-0001-6765-2765 & YÖK ID 55583), Rohrlach, A.B., Papac, L., Childebayeva, A., Rivollat, M., Villalba Mouco, V., Neumann, G.U., Penske, S., Skourtanioti, E., van de Loosdrecht, M., Akar, M., Boyadzhiev, K., Boyadzhiev, Y., Deguilloux, M.F., Dobes, M., Erdal, Y.S., Ernée, M., Frangipane, M., Furmanek, M., Friederich, S., Ghesquière, E., Ha?uszko, A., Hansen, S., Küßner, M., Mannino, M., Reinhold, S., Rottier, S., Salazar García, D.C., Diaz, J.S., Stockhammer, P.W., de Togores Muñoz, C.R., Yener, K.A., Posth, C., Krause, J., Herbig, A., Haak, W., College of Social Sciences and Humanities, Department of Archeology and History of Art, Centre National de la Recherche Scientifique (CNRS)-Université de Bordeaux (UB), Université de Nantes (UN)-Le Mans Université (UM)-Université de Rennes 2 (UR2), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Ministère de la Culture (MC), Université de Rennes (UNIV-RENNES)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR Histoire, Histoire de l'Art et Archéologie (UFR HHAA), Université de Nantes (UN)-Université de Nantes (UN)-Ministère de la Culture (MC), Max Planck Society, Agence Nationale de la Recherche (France), German Research Foundation, European Research Council, Academy of Sciences of the Czech Republic, Università degli Studi di Roma 'La Sapienza' = Sapienza University [Rome] (UNIROMA), Le Mans Université (UM)-Université de Rennes (UR)-Université de Rennes 2 (UR2)-Centre National de la Recherche Scientifique (CNRS)-Université de Nantes - UFR Histoire, Histoire de l'Art et Archéologie (UFR HHAA), and Ikerbasque - Basque Foundation for Science

Subjects
Czech, SELECTION, Population genetics, MITOCHONDRIAL-DNA, early farmers, DIVERSITY, mitochondrial DNA, shotgun sequencing, Prehistòria, Haplogroup, German, 0302 clinical medicine, Medicine and Health Sciences, DNA sequencing, Science and technology, media_common, 0303 health sciences, Multidisciplinary, Horizon (archaeology), Critical event, Shotgun sequencing, chromosomal haplogroups, European research, STEPPE, Western europe, language, Medicine, Genetic Markers, Mitochondrial DNA, [SHS.ARCHEO]Humanities and Social Sciences/Archaeology and Prehistory, uniparentally-inherited markers, Science, Library science, Biology, Y chromosome, DNA, Mitochondrial, Polymorphism, Single Nucleotide, Target enrichment, Article, 03 medical and health sciences, Political science, Humans, media_common.cataloged_instance, ANCIENT DNA, Genetic Testing, European union, Alleles, 030304 developmental biology, MUTATION-RATE, Chromosomes, Human, Y, Saturation (genetic), History and Archaeology, Y-mappable capture assay, Ancient DNA, Neanderthals, Anatomically modern humans, language.human_language, Neolithic transition, Genetics, Population, Haplotypes, Evolutionary biology, GENOMIC HISTORY, 030217 neurology & neurosurgery
Abstract

Uniparentally-inherited markers on mitochondrial DNA (mtDNA) and the non-recombining regions of the Y chromosome (NRY), have been used for the past 30 years to investigate the history of humans from a maternal and paternal perspective. Researchers have preferred mtDNA due to its abundance in the cells, and comparatively high substitution rate. Conversely, the NRY is less susceptible to back mutations and saturation, and is potentially more informative than mtDNA owing to its longer sequence length. However, due to comparatively poor NRY coverage via shotgun sequencing, and the relatively low and biased representation of Y-chromosome variants on capture assays such as the 1240 k, ancient DNA studies often fail to utilize the unique perspective that the NRY can yield. Here we introduce a new DNA enrichment assay, coined YMCA (Y-mappable capture assay), that targets the "mappable" regions of the NRY. We show that compared to low-coverage shotgun sequencing and 1240 k capture, YMCA significantly improves the mean coverage and number of sites covered on the NRY, increasing the number of Y-haplogroup informative SNPs, and allowing for the identification of previously undiscovered variants. To illustrate the power of YMCA, we show that the analysis of ancient Y-chromosome lineages can help to resolve Y-chromosomal haplogroups. As a case study, we focus on H2, a haplogroup associated with a critical event in European human history: the Neolithic transition. By disentangling the evolutionary history of this haplogroup, we further elucidate the two separate paths by which early farmers expanded from Anatolia and the Near East to western Europe., Open Access funding enabled and organized by Projekt DEAL. This study was funded by the Max Planck Society, the French (ANR) and German (DFG) Research Foundations under the INTERACT project (ANR-17-FRAL-0010, DFG-HA-5407/4-1, 2018-2021) to M.R. and W.H., the European Research Council (ERC) under the European Union’s Horizon 2020 research and innovation program under Grant agreement no. 771234-PALEoRIDER to W.H., the award Praemium Academiae of the Czech Academy of Sciences to M.E. and the project RVO 67985912 of the Institute of Archaeology of the Czech Academy of Sciences, Prague to M.S.

Published
2021

10. Dynamic changes in genomic and social structures in third millennium BCE central Europe

Author

Michaela Langová, Petr Limburský, Radka Šumberová, Martin Kuna, Adam Ben Rohrlach, Jana Kuljavceva Hlavová, Maria A. Spyrou, Erika Průchová, Drahomíra Malykova, Alžběta Danielisová, Milan Kuchařík, Petr Velemínský, Hana Brzobohatá, Johannes Krause, Franziska Aron, David Reich, Brendan J. Culleton, Luka Papac, Miluše Dobisíková, Ron Pinhasi, Volker M Heyd, Jan Kolář, Jana Klementová, Lubor Smejtek, Michal Ernée, David Daněček, Petr Krištuf, Lucia Mattiello, Ondřej Švejcar, Miloš Vávra, Douglas J. Kennett, Martin Trefný, Miroslav Dobeš, Wolfgang Haak, Jaroslav Špaček, Stephan Schiffels, Josef Hložek, Katarína Petriščáková, Gunnar U. Neumann, Michal Kostka, Monika Pecinovská, Nadin Rohland, Petra Stránská, Department of Cultures, Helsinki Institute of Sustainability Science (HELSUS), YMPACT: The Yamnaya Impact on Prehistoric Europe, Archaeology, and Faculty Common Matters (Faculty of Arts)

Subjects
Steppe, media_common.quotation_subject, 615 History and Archaeology, Prehistory, 03 medical and health sciences, social structure, Beaker, Bronze Age, 0601 history and archaeology, genomic structure, Social organization, Research Articles, 030304 developmental biology, media_common, 0303 health sciences, Bohemia, aDNA, migration, Neolithic, Eneolithic, ancestry, geography.geographical_feature_category, Multidisciplinary, 060102 archaeology, Central Europe, 1184 Genetics, developmental biology, physiology, SciAdv r-articles, 06 humanities and the arts, DNA, 3th millennium BC, Social processes, Geography, Anthropology, Ethnology, Social structure, Diversity (politics), Research Article
Abstract

Archaeogenetic time transect in Europe unravels genetic and social changes before and after the arrival of “steppe” ancestry., Europe’s prehistory oversaw dynamic and complex interactions of diverse societies, hitherto unexplored at detailed regional scales. Studying 271 human genomes dated ~4900 to 1600 BCE from the European heartland, Bohemia, we reveal unprecedented genetic changes and social processes. Major migrations preceded the arrival of “steppe” ancestry, and at ~2800 BCE, three genetically and culturally differentiated groups coexisted. Corded Ware appeared by 2900 BCE, were initially genetically diverse, did not derive all steppe ancestry from known Yamnaya, and assimilated females of diverse backgrounds. Both Corded Ware and Bell Beaker groups underwent dynamic changes, involving sharp reductions and complete replacements of Y-chromosomal diversity at ~2600 and ~2400 BCE, respectively, the latter accompanied by increased Neolithic-like ancestry. The Bronze Age saw new social organization emerge amid a ≥40% population turnover.

Published
2021

11. Ten millennia of hepatitis B virus evolution

Author

Oleg Balanovsky, Lourdes Marquez-Morfin, Magdalena Zoledziewska, Susannah J. Salter, Cody E. Parker, Kirsten I. Bos, Kathrin Nägele, Domingo C. Salazar-García, Kerttu Majander, Vittorio Mazzarello, Cosimo Posth, Kurt W. Alt, Elmira Khussainova, Silvia Teresita Hernández Godoy, Richard Mortimer, Ayshin Ghalichi, Alexander Herbig, Lars Fehren-Schmitz, Leyla B. Djansugurova, Dmitry A. Stashenkov, Raiko Krauß, Mikhail S. Chaplygin, Tiago Ferraz, Patrick Semal, Eva Rosenstock, Michal Kostka, Yavor Boyadzhiev, Harald Meller, Petr Limburský, Mario Küßner, Tara Ingman, Maïté Rivollat, Eva Fernández-Domínguez, Rodrigo Barquera, Robin Skeates, Kamen Boyadzhiev, Denise Kühnert, Mirjana Roksandic, Adam Ben Rohrlach, Alexandra P. Buzhilova, Alissa Mittnik, Yadira Chinique de Armas, Johannes Krause, Marie-France Deguilloux, Aleksandr Khokhlov, Rezeda I. Tukhbatova, Elizabeth Popescu, Lucy C. Salazar, Andrey A. Chizhevsky, Christopher Read, Hubert Steiner, Melanie Van Twest, Eveline Altena, Diana Iraíz Hernández-Zaragoza, Lyazzat Musralina, Megan Michel, Íñigo García-Martínez de Lagrán, Anatoly R. Kantorovich, Katrien Van de Vijver, Alžbeta Danielisová, Rachel Clarke, Duncan Sayer, Bastien Llamas, Nikolaj Makarov, Alejandro Romero, Luka Papac, Alessandra Sperduti, Vladimir E. Maslov, Rafael Garrido-Pena, Gunnar U. Neumann, Arman Z. Beisenov, Zainolla Samashev, Guido Alberto Gnecchi-Ruscone, Päivi Onkamo, Eduardo Carmona Ballestero, Javier Jimenez-Echevarria, Valery Khartanovich, Manuel Rojo-Guerra, Fredrik Hallgren, Eirini Skourtanioti, Natalia Shishlina, Luca Lai, Petr Velemínský, Antti Sajantila, Peter C. Ramsl, Claudia Sagona, Susanne Friederich, Miroslav Dobeš, Marcel Keller, Francesco Cucca, Sabine Reinhold, Florian van Bömmel, Luc Amkreutz, Vittoria Schimmenti, Raphaela Stahl, Douglas Baird, Marina K. Karapetian, Kurt Rademaker, Stephan Schiffels, Sacha Kacki, Evelyn K. Guevara, Michael Francken, Christina Warinner, Kay Prüfer, Karen Giffin, Felix M. Key, Joscha Gretzinger, Alexey Kalmykov, Svetlana Shnaider, Sandra Penske, Antje Wissgott, Tiffiny A. Tung, Biaslan Ch. Atabiev, Philippe Lefranc, Elizabeth A. Nelson, Peter de Knijff, Vladimir Slavchev, Jessica Pearson, Yılmaz Selim Erdal, Louise Loe, Jan Nováček, Micaela Alvarez Calmet, José I. Royo-Guillén, Richard L. Burger, Kristiina Mannermaa, K. Aslıhan Yener, Maria Pfefferkorn, Vyacheslav Moiseyev, Svend Hansen, Didier Binder, Michal Ernée, Maria A. Spyrou, Michal Feldman, Vladimir V. Kufterin, Murat Akar, Héctor Arcusa-Magallón, Andrej B. Belinskiy, Egor Kitov, Franziska Aron, Ron Hübler, Vanessa Villalba-Mouco, Sophie Beckett, Jessica Beckett, Arthur Kocher, Michael Schultz, Elena Batieva, Pilar Utrilla, Cristina Tejedor-Rodríguez, Kristin von Heyking, Masnav Navruzbekov, Michaela Langová, Maria Paz Miguel de Ibáñez, Stéphane Rottier, Maria V. Dobrovolskaya, Sandra Lösch, Emma D. Zilivinskaya, Dmitry V. Vasilev, Gabriel García Atiénzar, Marcello A. Mannino, Wolfgang Haak, Philipp W. Stockhammer, Sylvie Saintot, Alice Lyons, Ken Massy, Elena Kaverzneva, Susanna Sabin, Carmen Alonso-Fernández, Anna F. Kochkina, Marieke Sophia van de Loosdrecht, Stefanie Eisenmann, Max Planck Society, European Commission, Slovak Academy of Sciences, Academy of Sciences of the Czech Republic, Russian Foundation for Basic Research, German Research Foundation, Agence Nationale de la Recherche (France), Wenner-Gren Foundation, Ministry of Education and Science (Kazakhstan), Universidad de Alicante. Departamento de Prehistoria, Arqueología, Historia Antigua, Filología Griega y Filología Latina, Universidad de Alicante. Departamento de Biotecnología, Universidad de Alicante. Instituto Universitario de Investigación en Arqueología y Patrimonio Histórico, Prehistoria y Protohistoria, Grupo de Inmunología, Biología Celular y del Desarrollo, Ingman, Tara, Kocher, A., Papac, L., Barquera, R., Key, FM., Spyrou, MA., Hubler, R., Rohrlach, AB., Aron, F., Stahl, R., Wissgott, A., van Bommel, F., Pfefferkorn, M., Mittnik, A., Villalba-Mouco, V., Neumann, GU., Rivollat, M., van de Loosdrecht, MS., Majander, K., Tukhbatova, RI., Musralina, L., Ghalichi, A., Penske, S., Sabin, S., Michel, M., Gretzinger, J., Nelson, EA., Ferraz, T., Nagele, K., Parker, C., Keller, M., Guevara, EK., Feldman, M., Eisenmann, S., Skourtanioti, E., Giffin, K., Gnecchi-Ruscone, GA., Friederich, S., Schimmenti, V., Khartanovich, V., Karapetian, MK., Chaplygin, MS., Kufterin, VV., Khokhlov, AA., Chizhevsky, AA., Stashenkov, DA., Kochkina, AF., Tejedor-Rodriguez, C., de Lagran, IGM., Arcusa-Magallon, H., Garrido-Pena, R., Royo-Guillen, JI., Novacek, J., Rottier, S., Kacki, S., Saintot, S., Kaverzneva, E., Belinskiy, AB., Veleminsky, P., Limbursky, P., Kostka, M., Loe, L., Popescu, E., Clarke, R., Lyons, A., Mortimer, R., Sajantila, A., de Armas, YC., Godoy, STH., Hernandez-Zaragoza, DI., Pearson, J., Binder, D., Lefranc, P., Kantorovich, AR., Maslov, VE., Lai, L., Zoledziewska, M., Beckett, JF., Langova, M., Atienzar, GG., Ibanez, MPD, Romero, A., Sperduti, A., Beckett, S., Salter, SJ., Zilivinskaya, ED., Vasil, DV., von Heyking, K., Burger, RL., Salazar, LC., Amkreutz, L., Navruzbekov, M., Rosenstock, E., Alonso-Fernandez, C., Slavchev, V., Kalmykov, AA., Atabiev, BC., Batieva, E, Calmet, MA., Llamas, B., Schultz, M., Krauss, R., Jimenez-Echevarria, J., Francken, M., Shnaider, S., de Knijff, P., Altena, E., Van de Vijver, K., Fehren-Schmitz, L., Tung, TA., Losch, S., Dobrovolskaya, M., Makarov, N., Read, C., Van Twest, M., Sagona, C., Ramsl, PC., Akar, M., Yener, KA., Ballestero, EC., Cucca, F., Mazzarello, V., Utrilla, P., Rademaker, K., Fernandez-Dominguez, E., Baird, D., Semal, P., Marquez-Morfin, L, Roksandic, M., Steiner, H., Salazar-Garcia, DC., Shishlina, N. Erdal, YS., Hallgren, F., Boyadzhiev, Y., Boyadzhiev, K., Kussner, M., Sayer, D., Onkamo, P., Skeates, R., Rojo-Guerra, M., Buzhilova, A., Khussainova, E., Djansugurova, LB., Beisenov, AZ., Samashev, Z., Massy, K., Mannino, M., Moiseyev, V., Mannermaa, K., Balanovsky, O., Deguilloux, MF., Reinhold, S., Hansen, S., Kitov, EP., Dobes, M., Ernee, M., Meller, H., Prufer, Kay., Warinner, C., Schiffels, S., Stockhammer, PW., Bos, K., Posth, C., Herbig, A., Haak, W., Krause, J., Kuhnert, D., and Koç University Research Center for Anatolian Civilizations (ANAMED) / Koç Üniversitesi Anadolu Medeniyetleri Araştırma Merkezi (ANAMED)

Subjects
Phylogeographic history, Hepatitis B/history, 01 natural sciences, The Republic, Communicable Diseases, Emerging, German, Communicable Diseases, Emerging/history, Agency (sociology), Science and technology, ComputingMilieux_MISCELLANEOUS, History, Ancient, Phylogeny, media_common, 0303 health sciences, Multidisciplinary, Ancient DNA, European research, virus diseases, Genomics, Hepatitis B, 3. Good health, Europe, language, ComputingMethodologies_DOCUMENTANDTEXTPROCESSING, Christian ministry, Paleogenomic analyses, Asian Continental Ancestry Group, 010506 paleontology, Hepatitis B virus, Asia, Hepatitis B virus/classification, European Continental Ancestry Group, Library science, Biología Celular, White People, Marie curie, Evolution, Molecular, 03 medical and health sciences, American Natives, Asian People, Political science, Genomic data, media_common.cataloged_instance, Humans, Slovak, European union, American Indian or Alaska Native, 030304 developmental biology, 0105 earth and related environmental sciences, Genetic Variation, Paleontology, Prehistoria, A300, language.human_language, digestive system diseases, American natives, Americas, Asian continental ancestry group, Communicable diseases, Emerging, European continental ancestry group, Evolution, molecular, Genetic variation
Abstract

Hepatitis B virus (HBV) has been infecting humans for millennia and remains a global health problem, but its past diversity and dispersal routes are largely unknown. We generated HBV genomic data from 137 Eurasians and Native Americans dated between ~10,500 and ~400 years ago. We date the most recent common ancestor of all HBV lineages to between ~20,000 and 12,000 years ago, with the virus present in European and South American hunter-gatherers during the early Holocene. After the European Neolithic transition, Mesolithic HBV strains were replaced by a lineage likely disseminated by early farmers that prevailed throughout western Eurasia for ~4000 years, declining around the end of the 2nd millennium BCE. The only remnant of this prehistoric HBV diversity is the rare genotype G, which appears to have reemerged during the HIV pandemic., The research was funded by the Max Planck Society, the European Research Council (ERC) under the European Union’s Horizon 2020 research and innovation program (771234–PALEoRIDER, to W.H.; 805268–CoDisEASe to K. Bos; 834616–ARCHCAUCASUS to S.H.), the Slovak Academy of Sciences and the European Union’s Seventh Framework Programme and Marie Curie Actions under the Programme SASPRO (1340/03/03 to P.C.R.), the ERA.NET RUS Plus–S&T programm of the European Union’s Seventh Framework Programme (277–BIOARCCAUCASUS to S.Re. and S.H.), the Werner Siemens Stiftung (“Paleobiochemistry”, to CW), the Award Praemium Academiae of the Czech Academy of Sciences (to M.E.), the Institute of Archaeology of the Czech Academy of Sciences (RVO 67985912, to M.Dobe.), the Russian Foundation for Basic Research (19-09-00354a, to M.K.K. and V.V.K.; 19-78-10053 to SSh), the German Research Foundation (DFG-HA-5407/4-1–INTERACT to W.H. and RE2688/2 to S.Re.), the French National Research Agency (ANR-17-FRAL-0010–INTERACT, to M.F.D., M.Ri., S.Ro., S.Sai., D.Bi., and P.Le.), the Wenner-Gren Dissertation Fieldwork Grant (9558 to S.Sab.), and the Ministry of Education and Science of the Republic of Kazakhstan (AP08856654 to L.B.D., L.M., and E.Kh. and AP08857177 to A.Z.B.).

Published
2021

12. Author Correction: Ancient genomes reveal social and genetic structure of Late Neolithic Switzerland

Author

Philipp W. Stockhammer, Sandra Lösch, Noah Steuri, Marianne Ramstein, Gunnar U. Neumann, Inga Siebke, Thiseas Christos Lamnidis, Anthony Denaire, Jürgen Hald, Johannes Krause, Joachim Wahl, Verena J. Schuenemann, Albert Hafner, Ella Reiter, Bernadette Schnitzler, Luka Papac, Anja Furtwängler, Wolfgang Haak, Adam Ben Rohrlach, and Stephan Schiffels

Subjects
930 History of ancient world (to ca. 499), History, Population genetics, Science, General Physics and Astronomy, Biology, DNA, Mitochondrial, Genome, White People, General Biochemistry, Genetics and Molecular Biology, Article, Evolutionary genetics, Evolution, Molecular, Germany, Humans, DNA, Ancient, Author Correction, lcsh:Science, History, Ancient, Multidisciplinary, Genome, Human, Human evolutionary genetics, General Chemistry, Europe, Genetics, Population, 560 Fossils & prehistoric life, Archaeology, Evolutionary biology, Genetic structure, 570 Life sciences, biology, lcsh:Q, France, Switzerland
Abstract

Genetic studies of Neolithic and Bronze Age skeletons from Europe have provided evidence for strong population genetic changes at the beginning and the end of the Neolithic period. To further understand the implications of these in Southern Central Europe, we analyze 96 ancient genomes from Switzerland, Southern Germany, and the Alsace region in France, covering the Middle/Late Neolithic to Early Bronze Age. Similar to previously described genetic changes in other parts of Europe from the early 3rd millennium BCE, we detect an arrival of ancestry related to Late Neolithic pastoralists from the Pontic-Caspian steppe in Switzerland as early as 2860–2460 calBCE. Our analyses suggest that this genetic turnover was a complex process lasting almost 1000 years and involved highly genetically structured populations in this region., European populations underwent strong genetic changes during the Neolithic. Here, Furtwängler et al. provide ancient nuclear and mitochondrial genomic data from the region of Switzerland during the end of the Neolithic and the Early Bronze Age that reveal a complex genetic turnover during the arrival of steppe ancestry.

Published
2020

13. Ancient genomes reveal social and genetic structure of Late Neolithic Switzerland

Author

Verena J. Schuenemann, Inga Siebke, Luka Papac, Anja Furtwängler, Bernadette Schnitzler, Johannes Krause, Anthony Denaire, Marianne Ramstein, Stephan Schiffels, Albert Hafner, Wolfgang Haak, Ella Reiter, Gunnar U. Neumann, Sandra Lösch, Adam Ben Rohrlach, Jürgen Hald, Joachim Wahl, Philipp W. Stockhammer, Noah Steuri, Thiseas Christos Lamnidis, University of Zurich, and Krause, Johannes

Subjects
930 History of ancient world (to ca. 499), Steppe, 940 History of Europe, Science, Pastoralism, Population, General Physics and Astronomy, Population genetics, 610 Medicine & health, 1600 General Chemistry, General Biochemistry, Genetics and Molecular Biology, 03 medical and health sciences, 0302 clinical medicine, Bronze Age, 1300 General Biochemistry, Genetics and Molecular Biology, lcsh:Science, education, 030304 developmental biology, 0303 health sciences, geography, education.field_of_study, Multidisciplinary, geography.geographical_feature_category, Human evolutionary genetics, General Chemistry, Archaeology, 3100 General Physics and Astronomy, Genetic structure, 11294 Institute of Evolutionary Medicine, Period (geology), 570 Life sciences, biology, lcsh:Q, 030217 neurology & neurosurgery
Abstract

Genetic studies of Neolithic and Bronze Age skeletons from Europe have provided evidence for strong population genetic changes at the beginning and the end of the Neolithic period. To further understand the implications of these in Southern Central Europe, we analyze 96 ancient genomes from Switzerland, Southern Germany, and the Alsace region in France, covering the Middle/Late Neolithic to Early Bronze Age. Similar to previously described genetic changes in other parts of Europe from the early 3rd millennium BCE, we detect an arrival of ancestry related to Late Neolithic pastoralists from the Pontic-Caspian steppe in Switzerland as early as 2860–2460 calBCE. Our analyses suggest that this genetic turnover was a complex process lasting almost 1000 years and involved highly genetically structured populations in this region. European populations underwent strong genetic changes during the Neolithic. Here, Furtwangler et al. provide ancient nuclear and mitochondrial genomic data from the region of Switzerland during the end of the Neolithic and the Early Bronze Age that reveal a complex genetic turnover during the arrival of steppe ancestry.

Published
2020

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