Genetic history from the Middle Neolithic to present on the Mediterranean island of Sardinia
Year: 2020
Type: article
Abstract: Recent ancient DNA studies of western Eurasia have revealed a dynamic history of admixture, with evidence for major migrations during the Neolithic and Bronze Age. The population of the Mediterranean island of Sardinia has been notable in these studies – Neolithic individuals from mainland Europe cluster more closely with Sardinian individuals than with all other present-day Europeans. The current model to explain this result is that Sardinia received an initial influx of Neolithic ancestry and then remained relatively isolated from expansions in the later Neolithic and Bronze Age that took place in continental Europe. To test this model, we generated genome-wide capture data (approximately 1.2 million variants) for 43 ancient Sardinian individuals spanning the Neolithic through the Bronze Age, including individuals from Sardinia’s Nuragic culture, which is known for the construction of numerous large stone towers throughout the island. We analyze these new samples in the context of previously generated genome-wide ancient DNA data from 972 ancient individuals across western Eurasia and whole-genome sequence data from approximately 1,500 modern individuals from Sardinia. The ancient Sardinian individuals show a strong affinity to western Mediterranean Neolithic populations and we infer a high degree of genetic continuity on the island from the Neolithic (around fifth millennium BCE) through the Nuragic period (second millennium BCE). In particular, during the Bronze Age in Sardinia, we do not find significant levels of the “Steppe” ancestry that was spreading in many other parts of Europe at that time. We also characterize subsequent genetic influx between the Nuragic period and the present. We detect novel, modest signals of admixture between 1,000 BCE and present-day, from ancestry sources in the eastern and northern Mediterranean. Within Sardinia, we confirm that populations from the more geographically isolated mountainous provinces have experienced elevated levels of genetic drift and that northern and southwestern regions of the island received more gene flow from outside Sardinia. Overall, our genetic analysis sheds new light on the origin of Neolithic settlement on Sardinia, reinforces models of genetic continuity on the island, and provides enhanced power to detect post-Bronze-Age gene flow. Together, these findings offer a refined demographic model for future medical genetic studies in Sardinia.
Source: Nature Communications
Authors: Joseph H. Marcus, Cosimo Posth, Harald Ringbauer, Luca Lai, Robin Skeates, Carlo Sidore, Jessica Beckett, Anja Furtwängler, Anna Olivieri, Charleston W. K. Chiang, Hussein Al-Asadi, Kushal Dey, Tyler A. Joseph, Chi-Chun Liu, Clio Der Sarkissian, Rita Radzevičiūtė, Megan Michel, Maria Giuseppina Gradoli, Patrizia Marongiu, Salvatore Rubino, Vittorio Mazzarello, Daniela Rovina, Alessandra La Fragola, Rita Maria Serra, Pasquale Bandiera, Raffaella Bianucci, Elisa Pompianu, Clizia Murgia, Michele Guirguis, Rosana Pla Orquin, Noreen Tuross, Peter van Dommelen, Wolfgang Haak, David Reich, David Schlessinger, Francesco Cucca, Johannes Krause, John Novembre
Institutions: University of Chicago, Max Planck Institute of Geoanthropology, University of Tübingen, University of North Carolina at Charlotte, University of South Florida, Durham University, University of Sassari, Institute of Genetic and Biomedical Research, University of Pavia, University of Southern California, Harvard University, Columbia University, Centre National de la Recherche Scientifique, Université Toulouse III - Paul Sabatier, AMIS - Laboratoire d'anthropologie moléculaire et imagerie de synthèse, Centre d'Anthropobiologie et de Génomique de Toulouse, Université de Toulouse, University of Leicester, University of Almería, Università degli Studi del Piemonte Orientale “Amedeo Avogadro”, University of Turin, Universitat Autònoma de Barcelona, Brown University, Broad Institute, Howard Hughes Medical Institute, Max Planck - Harvard Research Center for the Archaeoscience of the Ancient Mediterranean, National Institutes of Health, National Institute on Aging
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: gold
Estimated APC paid: $5,380
Funders: National Science Foundation, Howard Hughes Medical Institute, John D. and Catherine T. MacArthur Foundation, Fondazione di Sardegna, Dipartimenti di Eccellenza, British Academy, Fondazione Cariplo, Ministero dell’Istruzione, dell’Università e della Ricerca, Max-Planck-Gesellschaft, Università degli Studi di Pavia, Università degli Studi di Sassari, Max-Planck-Institut für Menschheitsgeschichte, Australian Research Council, National Institute on Aging, National Institute on Drug Abuse, National Human Genome Research Institute, National Institute of General Medical Sciences
Awards: G1163247334, G1449130676, G1575657597, Haplotype-based analysis methods for population genomics, Refining the timescale of human evolution and dispersal using ancient DNA, G3820875754, G3846609005, G3866078129, Graduate Research Fellowship Program (GRFP), G575684798, G6528975665, Extending Tools for Visualization of Geographic Structure in Population Genomic Data, Genetics and Regulation, Graduate Research Fellowship Program (GRFP), G7425011281, G7543202937, G8297767916, A new history and geography of human genes informed by ancient DNA
OpenAlex ID: W3007579206