1. 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