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1. Human adaptation over the past 40,000 years.

Author

Mathieson I

Subjects
History, Ancient, Humans, Phenotype, Adaptation, Physiological, DNA, Ancient analysis, Evolution, Molecular, Genomics history, Multifactorial Inheritance, Selection, Genetic
Abstract

Over the past few years several methodological and data-driven advances have greatly improved our ability to robustly detect genomic signatures of selection in humans. New methods applied to large samples of present-day genomes provide increased power, while ancient DNA allows precise estimation of timing and tempo. However, despite these advances, we are still limited in our ability to translate these signatures into understanding about which traits were actually under selection, and why. Combining information from different populations and timescales may allow interpretation of selective sweeps. Other modes of selection have proved more difficult to detect. In particular, despite strong evidence of the polygenicity of most human traits, evidence for polygenic selection is weak, and its importance in recent human evolution remains unclear. Balancing selection and archaic introgression seem important for the maintenance of potentially adaptive immune diversity, but perhaps less so for other traits., (Copyright © 2020 Elsevier Ltd. All rights reserved.)

Published
2020
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2. Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa.

Author

Gurdasani D, Carstensen T, Fatumo S, Chen G, Franklin CS, Prado-Martinez J, Bouman H, Abascal F, Haber M, Tachmazidou I, Mathieson I, Ekoru K, DeGorter MK, Nsubuga RN, Finan C, Wheeler E, Chen L, Cooper DN, Schiffels S, Chen Y, Ritchie GRS, Pollard MO, Fortune MD, Mentzer AJ, Garrison E, Bergström A, Hatzikotoulas K, Adeyemo A, Doumatey A, Elding H, Wain LV, Ehret G, Auer PL, Kooperberg CL, Reiner AP, Franceschini N, Maher D, Montgomery SB, Kadie C, Widmer C, Xue Y, Seeley J, Asiki G, Kamali A, Young EH, Pomilla C, Soranzo N, Zeggini E, Pirie F, Morris AP, Heckerman D, Tyler-Smith C, Motala AA, Rotimi C, Kaleebu P, Barroso I, and Sandhu MS

Subjects
Female, Gene Frequency genetics, Genome-Wide Association Study, Humans, Male, Polymorphism, Single Nucleotide genetics, Uganda epidemiology, Whole Genome Sequencing, Black People genetics, Genetic Predisposition to Disease, Genome, Human genetics, Genomics
Abstract

Genomic studies in African populations provide unique opportunities to understand disease etiology, human diversity, and population history. In the largest study of its kind, comprising genome-wide data from 6,400 individuals and whole-genome sequences from 1,978 individuals from rural Uganda, we find evidence of geographically correlated fine-scale population substructure. Historically, the ancestry of modern Ugandans was best represented by a mixture of ancient East African pastoralists. We demonstrate the value of the largest sequence panel from Africa to date as an imputation resource. Examining 34 cardiometabolic traits, we show systematic differences in trait heritability between European and African populations, probably reflecting the differential impact of genes and environment. In a multi-trait pan-African GWAS of up to 14,126 individuals, we identify novel loci associated with anthropometric, hematological, lipid, and glycemic traits. We find that several functionally important signals are driven by Africa-specific variants, highlighting the value of studying diverse populations across the region., (Copyright © 2019 Elsevier Inc. All rights reserved.)

Published
2019
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3. The genomic history of southeastern Europe.

Author

Mathieson I, Alpaslan-Roodenberg S, Posth C, Szécsényi-Nagy A, Rohland N, Mallick S, Olalde I, Broomandkhoshbacht N, Candilio F, Cheronet O, Fernandes D, Ferry M, Gamarra B, Fortes GG, Haak W, Harney E, Jones E, Keating D, Krause-Kyora B, Kucukkalipci I, Michel M, Mittnik A, Nägele K, Novak M, Oppenheimer J, Patterson N, Pfrengle S, Sirak K, Stewardson K, Vai S, Alexandrov S, Alt KW, Andreescu R, Antonović D, Ash A, Atanassova N, Bacvarov K, Gusztáv MB, Bocherens H, Bolus M, Boroneanţ A, Boyadzhiev Y, Budnik A, Burmaz J, Chohadzhiev S, Conard NJ, Cottiaux R, Čuka M, Cupillard C, Drucker DG, Elenski N, Francken M, Galabova B, Ganetsovski G, Gély B, Hajdu T, Handzhyiska V, Harvati K, Higham T, Iliev S, Janković I, Karavanić I, Kennett DJ, Komšo D, Kozak A, Labuda D, Lari M, Lazar C, Leppek M, Leshtakov K, Vetro DL, Los D, Lozanov I, Malina M, Martini F, McSweeney K, Meller H, Menđušić M, Mirea P, Moiseyev V, Petrova V, Price TD, Simalcsik A, Sineo L, Šlaus M, Slavchev V, Stanev P, Starović A, Szeniczey T, Talamo S, Teschler-Nicola M, Thevenet C, Valchev I, Valentin F, Vasilyev S, Veljanovska F, Venelinova S, Veselovskaya E, Viola B, Virag C, Zaninović J, Zäuner S, Stockhammer PW, Catalano G, Krauß R, Caramelli D, Zariņa G, Gaydarska B, Lillie M, Nikitin AG, Potekhina I, Papathanasiou A, Borić D, Bonsall C, Krause J, Pinhasi R, and Reich D

Subjects
Agriculture history, Asia ethnology, DNA, Ancient, Europe, Female, Genetics, Population, Grassland, History, Ancient, Humans, Male, Sex Distribution, Farmers history, Genome, Human genetics, Genomics, Human Migration history
Abstract

Farming was first introduced to Europe in the mid-seventh millennium bc, and was associated with migrants from Anatolia who settled in the southeast before spreading throughout Europe. Here, to understand the dynamics of this process, we analysed genome-wide ancient DNA data from 225 individuals who lived in southeastern Europe and surrounding regions between 12000 and 500 bc. We document a west-east cline of ancestry in indigenous hunter-gatherers and, in eastern Europe, the early stages in the formation of Bronze Age steppe ancestry. We show that the first farmers of northern and western Europe dispersed through southeastern Europe with limited hunter-gatherer admixture, but that some early groups in the southeast mixed extensively with hunter-gatherers without the sex-biased admixture that prevailed later in the north and west. We also show that southeastern Europe continued to be a nexus between east and west after the arrival of farmers, with intermittent genetic contact with steppe populations occurring up to 2,000 years earlier than the migrations from the steppe that ultimately replaced much of the population of northern Europe.

Published
2018
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4. The Simons Genome Diversity Project: 300 genomes from 142 diverse populations.

Author

Mallick S, Li H, Lipson M, Mathieson I, Gymrek M, Racimo F, Zhao M, Chennagiri N, Nordenfelt S, Tandon A, Skoglund P, Lazaridis I, Sankararaman S, Fu Q, Rohland N, Renaud G, Erlich Y, Willems T, Gallo C, Spence JP, Song YS, Poletti G, Balloux F, van Driem G, de Knijff P, Romero IG, Jha AR, Behar DM, Bravi CM, Capelli C, Hervig T, Moreno-Estrada A, Posukh OL, Balanovska E, Balanovsky O, Karachanak-Yankova S, Sahakyan H, Toncheva D, Yepiskoposyan L, Tyler-Smith C, Xue Y, Abdullah MS, Ruiz-Linares A, Beall CM, Di Rienzo A, Jeong C, Starikovskaya EB, Metspalu E, Parik J, Villems R, Henn BM, Hodoglugil U, Mahley R, Sajantila A, Stamatoyannopoulos G, Wee JT, Khusainova R, Khusnutdinova E, Litvinov S, Ayodo G, Comas D, Hammer MF, Kivisild T, Klitz W, Winkler CA, Labuda D, Bamshad M, Jorde LB, Tishkoff SA, Watkins WS, Metspalu M, Dryomov S, Sukernik R, Singh L, Thangaraj K, Pääbo S, Kelso J, Patterson N, and Reich D

Subjects
Animals, Australia, Black People genetics, Datasets as Topic, Genetics, Population, History, Ancient, Human Migration history, Humans, Neanderthals genetics, New Guinea, Sequence Analysis, DNA, Species Specificity, Time Factors, Genetic Variation genetics, Genome, Human genetics, Genomics, Mutation Rate, Phylogeny, Racial Groups genetics
Abstract

Here we report the Simons Genome Diversity Project data set: high quality genomes from 300 individuals from 142 diverse populations. These genomes include at least 5.8 million base pairs that are not present in the human reference genome. Our analysis reveals key features of the landscape of human genome variation, including that the rate of accumulation of mutations has accelerated by about 5% in non-Africans compared to Africans since divergence. We show that the ancestors of some pairs of present-day human populations were substantially separated by 100,000 years ago, well before the archaeologically attested onset of behavioural modernity. We also demonstrate that indigenous Australians, New Guineans and Andamanese do not derive substantial ancestry from an early dispersal of modern humans; instead, their modern human ancestry is consistent with coming from the same source as that of other non-Africans.

Published
2016
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5. An integrated map of genetic variation from 1,092 human genomes

Author

Altshuler, DM, Durbin, RM, Abecasis, GR, Bentley, DR, Chakravarti, A, Clark, AG, Donnelly, P, Eichler, EE, Flicek, P, Gabriel, SB, Gibbs, RA, Green, ED, Hurles, ME, Knoppers, BM, Korbel, JO, Lander, ES, Lee, C, Lehrach, H, Mardis, ER, Marth, GT, McVean, GA, Nickerson, DA, Schmidt, JP, Sherry, ST, Wang, J, Wilson, RK, Dinh, H, Kovar, C, Lee, S, Lewis, L, Muzny, D, Reid, J, Wang, M, Fang, X, Guo, X, Jian, M, Jiang, H, Jin, X, Li, G, Li, J, Li, Y, Li, Z, Liu, X, Lu, Y, Ma, X, Su, Z, Tai, S, Tang, M, Wang, B, Wang, G, Wu, H, Wu, R, Yin, Y, Zhang, W, Zhao, J, Zhao, M, Zheng, X, Zhou, Y, Gupta, N, Clarke, L, Leinonen, R, Smith, RE, Zheng-Bradley, X, Grocock, R, Humphray, S, James, T, Kingsbury, Z, Sudbrak, R, Albrecht, MW, Amstislavskiy, VS, Borodina, TA, Lienhard, M, Mertes, F, Sultan, M, Timmermann, B, Yaspo, M-L, Fulton, L, Fulton, R, Weinstock, GM, Balasubramaniam, S, Burton, J, Danecek, P, Keane, TM, Kolb-Kokocinski, A, McCarthy, S, Stalker, J, Quail, M, Davies, CJ, Gollub, J, Webster, T, Wong, B, Zhan, Y, Auton, A, Yu, F, Bainbridge, M, Challis, D, Evani, US, Lu, J, Nagaswamy, U, Sabo, A, Wang, Y, Yu, J, Coin, LJM, Fang, L, Li, Q, Lin, H, Liu, B, Luo, R, Qin, N, Shao, H, Xie, Y, Ye, C, Yu, C, Zhang, F, Zheng, H, Zhu, H, Garrison, EP, Kural, D, Lee, W-P, Leong, WF, Ward, AN, Wu, J, Zhang, M, Griffin, L, Hsieh, C-H, Mills, RE, Shi, X, Von Grotthuss, M, Zhang, C, Daly, MJ, DePristo, MA, Banks, E, Bhatia, G, Carneiro, MO, Del Angel, G, Genovese, G, Handsaker, RE, Hartl, C, McCarroll, SA, Nemesh, JC, Poplin, RE, Schaffner, SF, Shakir, K, Yoon, SC, Lihm, J, Makarov, V, Jin, H, Kim, W, Kim, KC, Rausch, T, Beal, K, Cunningham, F, Herrero, J, McLaren, WM, Ritchie, GRS, Gottipati, S, Keinan, A, Rodriguez-Flores, JL, Sabeti, PC, Grossman, SR, Tabrizi, S, Tariyal, R, Cooper, DN, Ball, EV, Stenson, PD, Barnes, B, Bauer, M, Cheetham, RK, Cox, T, Eberle, M, Kahn, S, Murray, L, Peden, J, Shaw, R, Ye, K, Batzer, MA, Konkel, MK, Walker, JA, MacArthur, DG, Lek, M, Herwig, R, Shriver, MD, Bustamante, CD, Byrnes, JK, De la Vega, FM, Gravel, S, Kenny, EE, Kidd, JM, Lacroute, P, Maples, BK, Moreno-Estrada, A, Zakharia, F, Halperin, E, Baran, Y, Craig, DW, Christoforides, A, Homer, N, Izatt, T, Kurdoglu, AA, Sinari, SA, Squire, K, Xiao, C, Sebat, J, Bafna, V, Burchard, EG, Hernandez, RD, Gignoux, CR, Haussler, D, Katzman, SJ, Kent, WJ, Howie, B, Ruiz-Linares, A, Dermitzakis, ET, Lappalainen, T, Devine, SE, Maroo, A, Tallon, LJ, Rosenfeld, JA, Michelson, LP, Kang, HM, Anderson, P, Angius, A, Bigham, A, Blackwell, T, Busonero, F, Cucca, F, Fuchsberger, C, Jones, C, Jun, G, Lyons, R, Maschio, A, Porcu, E, Reinier, F, Sanna, S, Schlessinger, D, Sidore, C, Tan, A, Trost, MK, Awadalla, P, Hodgkinson, A, Lunter, G, Marchini, JL, Myers, S, Churchhouse, C, Delaneau, O, Gupta-Hinch, A, Iqbal, Z, Mathieson, I, Rimmer, A, Xifara, DK, Oleksyk, TK, Fu, Y, Xiong, M, Jorde, L, Witherspoon, D, Xing, J, Browning, BL, Alkan, C, Hajirasouliha, I, Hormozdiari, F, Ko, A, Sudmant, PH, Chen, K, Chinwalla, A, Ding, L, Dooling, D, Koboldt, DC, McLellan, MD, Wallis, JW, Wendl, MC, Zhang, Q, Tyler-Smith, C, Albers, CA, Ayub, Q, Chen, Y, Coffey, AJ, Colonna, V, Huang, N, Jostins, L, Li, H, Scally, A, Walter, K, Xue, Y, Zhang, Y, Gerstein, MB, Abyzov, A, Balasubramanian, S, Chen, J, Clarke, D, Habegger, L, Harmanci, AO, Jin, M, Khurana, E, Mu, XJ, Sisu, C, Degenhardt, J, Stuetz, AM, Church, D, Michaelson, JJ, Ben, B, Lindsay, SJ, Ning, Z, Frankish, A, Harrow, J, Fowler, G, Hale, W, Kalra, D, Barker, J, Kelman, G, Kulesha, E, Radhakrishnan, R, Roa, A, Smirnov, D, Streeter, I, Toneva, I, Vaughan, B, Ananiev, V, Belaia, Z, Beloslyudtsev, D, Bouk, N, Chen, C, Cohen, R, Cook, C, Garner, J, Hefferon, T, Kimelman, M, Liu, C, Lopez, J, Meric, P, O'Sullivan, C, Ostapchuk, Y, Phan, L, Ponomarov, S, Schneider, V, Shekhtman, E, Sirotkin, K, Slotta, D, Zhang, H, Barnes, KC, Beiswanger, C, Cai, H, Cao, H, Gharani, N, Henn, B, Jones, D, Kaye, JS, Kent, A, Kerasidou, A, Mathias, R, Ossorio, PN, Parker, M, Reich, D, Rotimi, CN, Royal, CD, Sandoval, K, Su, Y, Tian, Z, Tishkoff, S, Toji, LH, Via, M, Yang, H, Yang, L, Zhu, J, Bodmer, W, Bedoya, G, Ming, CZ, Yang, G, You, CJ, Peltonen, L, Garcia-Montero, A, Orfao, A, Dutil, J, Martinez-Cruzado, JC, Brooks, LD, Felsenfeld, AL, McEwen, JE, Clemm, NC, Duncanson, A, Dunn, M, Guyer, MS, Peterson, JL, 1000 Genomes Project Consortium, Dermitzakis, Emmanouil, Universitat de Barcelona, Massachusetts Institute of Technology. Department of Biology, Altshuler, David, and Lander, Eric S.

Subjects
Natural selection, LOCI, Genome-wide association study, Evolutionary biology, Continental Population Groups/genetics, Human genetic variation, VARIANTS, Genoma humà, Binding Sites/genetics, 0302 clinical medicine, RARE, Sequence Deletion/genetics, WIDE ASSOCIATION, ddc:576.5, Copy-number variation, MUTATION, Exome sequencing, transcription factor, Conserved Sequence, Human evolution, Sequence Deletion, Genetics, RISK, 0303 health sciences, Multidisciplinary, Continental Population Groups, 1000 Genomes Project Consortium, Genetic analysis, Genomics, Polymorphism, Single Nucleotide/genetics, Research Highlight, 3. Good health, Algorithm, Multidisciplinary Sciences, Genetic Variation/genetics, Map, Science & Technology - Other Topics, Conserved Sequence/genetics, Integrated approach, General Science & Technology, Genetics, Medical, Haplotypes/genetics, Biology, Polymorphism, Single Nucleotide, Evolution, Molecular, 03 medical and health sciences, Genetic variation, Humans, Transcription Factors/metabolism, POPULATION-STRUCTURE, 1000 Genomes Project, Polymorphism, Nucleotide Motifs, Alleles, 030304 developmental biology, COPY NUMBER VARIATION, Science & Technology, Binding Sites, Human genome, Genome, Human, Racial Groups, Genetic Variation, Genetics, Population, Haplotypes, Genome, Human/genetics, untranslated RNA, 030217 neurology & neurosurgery, Transcription Factors, Genome-Wide Association Study
Abstract

By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. Here we describe the genomes of 1,092 individuals from 14 populations, constructed using a combination of low-coverage whole-genome and exome sequencing. By developing methods to integrate information across several algorithms and diverse data sources, we provide a validated haplotype map of 38 million single nucleotide polymorphisms, 1.4 million short insertions and deletions, and more than 14,000 larger deletions. We show that individuals from different populations carry different profiles of rare and common variants, and that low-frequency variants show substantial geographic differentiation, which is further increased by the action of purifying selection. We show that evolutionary conservation and coding consequence are key determinants of the strength of purifying selection, that rare-variant load varies substantially across biological pathways, and that each individual contains hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites. This resource, which captures up to 98% of accessible single nucleotide polymorphisms at a frequency of 1% in related populations, enables analysis of common and low-frequency variants in individuals from diverse, including admixed, populations., National Institutes of Health (U.S.) (Grant RC2HL102925), National Institutes of Health (U.S.) (Grant U54HG3067)

Published
2012

6. The genomic history of Southern Europe

Author

Richard Cottiaux, Eadaoin Harney, Iain Mathieson, Elizaveta Veselovskaya, Corinne Thevenet, Georgi Ganetsovski, Philipp W. Stockhammer, Petar Stanev, Douglas J. Kennett, Stefan Chohadzhiev, Adina Boroneanţ, Domenico Lo Vetro, Megan Michel, Nicholas J. Conard, Maleen Leppek, Fanica Veljanovska, Harald Meller, Martina Lari, Clive Bonsall, Michael Bolus, Thomas Higham, Andrej Starović, Darko Komšo, Mario Novak, Ivaylo Lozanov, Maja Čuka, Vanya Petrova, Krum Bacvarov, Alicja Budnik, Cosimo Posth, Cristian Virag, Stanislav Iliev, Wolfgang Haak, Francesca Candilio, Iñigo Olalde, Tamás Hajdu, David Caramelli, Raiko Krauß, Ivor Janković, Swapan Mallick, Matthew Ferry, Ben Krause-Kyora, Maria Teschler-Nicola, Kristin Stewardson, Cătălin Lazăr, Anastasia Papathanasiou, Giulio Catalano, Veneta Handzhyiska, Kendra Sirak, Kathrin Nägele, Kurt W. Alt, Bernard Gély, Ivor Karavanić, Svetlana Venelinova, Nedko Elenski, Dragana Antonović, Ron Pinhasi, Maria Malina, Inna Potekhina, Ivan Valchev, Alexey G. Nikitin, Kath McSweeney, Dusan Boric, Alissa Mittnik, Nick Patterson, Saskia Pfrengle, Angela Simalcsik, Anna Szécsényi-Nagy, Abigail Ash, Malcolm Lillie, Mario Šlaus, Fabio Martini, David Reich, Johannes Krause, Tamás Szeniczey, Bence Viola, Dženi Los, Luca Sineo, Hervé Bocherens, Christophe Cupillard, Yavor Boyadzhiev, Pavel Mirea, Sahra Talamo, Alexandra Kozak, Katerina Harvati, Songül Alpaslan-Roodenberg, Nasreen Broomandkhoshbacht, Marko Menđušić, Gunita Zariņa, Olivia Cheronet, Isil Kucukkalipci, Denise Keating, Dorothée G. Drucker, Stefan Alexandrov, Vladimir Slavchev, Radian Andreescu, Eppie R. Jones, Beatriz Gamarra, Michael Francken, Nadin Rohland, Gloria G. Fortes, Jonas Oppenheimer, Stefania Vai, T. Douglas Price, Sergey Vasilyev, Borislava Galabova, Krassimir Leshtakov, Bisserka Gaydarska, Mende Balázs Gusztáv, Joško Zaninović, Nadezhda Atanassova, Vyacheslav Moiseyev, Josip Burmaz, Daniel Fernandes, Steve Zäuner, Damian Labuda, Frédérique Valentin, Iain Mathieson, Songül Alpaslan-Roodenberg, Cosimo Posth, Anna Szécsényi-Nagy, Nadin Rohland1, Swapan Mallick, Iigo Olalde, Nasreen Broomandkhoshbacht, Francesca Candilio, Olivia Cheronet, Daniel Fernandes, Matthew Ferry, Beatriz Gamarra, Gloria González Fortes, Wolfgang Haak, Eadaoin Harney, Eppie Jones, Denise Keating, Ben Krause-Kyora, Isil Kucukkalipci, Megan Michel, Alissa Mittnik, Kathrin N.gele, Mario Novak, Jonas Oppenheimer, Nick Patterson, Saskia Pfrengle, Kendra Sirak, Kristin Stewardson, Stefania Vai, Stefan Alexandrov, Kurt W. Alt, Radian Andreescu, Dragana Antonovic′, Abigail Ash, Nadezhda Atanassova, Krum Bacvarov, Mende Balázs Gusztáv, Hervé Bocherens, Michael Bolus, Adina Boroneant., Yavor Boyadzhiev, Alicja Budnik, Josip Burmaz, Stefan Chohadzhiev, Nicholas J. Conard, Richard Cottiaux, Maja Cuka, Christophe Cupillard, Dorothée G. Drucker, Nedko Elenski, Michael Francken, Borislava Galabova, Georgi Ganetsovski, Bernard Gély, Tamás Hajdu, Veneta Handzhyiska, Katerina Harvati, Thomas Higham, Stanislav Iliev, Ivor Jankovic′, Ivor Karavanic, Douglas J. Kennett, Darko Komšo, Alexandra Kozak, Damian Labuda, Martina Lari, Catalin Lazar, Maleen Leppek, Krassimir Leshtakov, Domenico Lo Vetro, Dženi Los, Ivaylo Lozanov, Maria Malina, Fabio Martini, Kath McSweeney, Harald Meller, Marko Mendˉušic, Pavel Mirea, Vyacheslav Moiseyev, Vanya Petrova, T. Douglas Price, Angela Simalcsik, Luca Sineo, Mario Šlaus, Vladimir Slavchev, Petar Stanev, Andrej Starovic′, Tamás Szeniczey, Sahra Talamo, Maria Teschler-Nicola, Corinne Thevenet, Ivan Valchev, Frédérique Valentin, Sergey Vasilyev, Fanica Veljanovska, Svetlana Venelinova, Elizaveta Veselovskaya, Bence Viola, Cristian Virag, Joško Zaninovic′, Steve Zuner, Philipp W. Stockhammer, Giulio Catalano, Raiko Krau, David Caramelli, Gunita Zarin, Bisserka Gaydarska, Malcolm Lillie, Alexey G. Nikitin, Inna Potekhina, Anastasia Papathanasiou, Dušan Boric, Clive Bonsall, Johannes Krause, Ron Pinhasi, David Reich, Laboratoire Chrono-environnement - CNRS - UBFC (UMR 6249) (LCE), Centre National de la Recherche Scientifique (CNRS)-Université de Franche-Comté (UFC), Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC), Mathieson I., Alpaslan-Roodenberg S., Posth C., Szecsenyi-Nagy A., Rohland N., Mallick S., Olalde I., Broomandkhoshbacht N., Candilio F., Cheronet O., Fernandes D., Ferry M., Gamarra B., Fortes G.G., Haak W., Harney E., Jones E., Keating D., Krause-Kyora B., Kucukkalipci I., Michel M., Mittnik A., Nagele K., Novak M., Oppenheimer J., Patterson N., Pfrengle S., Sirak K., Stewardson K., Vai S., Alexandrov S., Alt K.W., Andreescu R., Antonovic D., Ash A., Atanassova N., Bacvarov K., Gusztav M.B., Bocherens H., Bolus M., Boroneant A., Boyadzhiev Y., Budnik A., Burmaz J., Chohadzhiev S., Conard N.J., Cottiaux R., Cuka M., Cupillard C., Drucker D.G., Elenski N., Francken M., Galabova B., Ganetsovski G., Gely B., Hajdu T., Handzhyiska V., Harvati K., Higham T., Iliev S., Jankovic I., Karavanic I., Kennett D.J., Komso D., Kozak A., Labuda D., Lari M., Lazar C., Leppek M., Leshtakov K., Vetro D.L., Los D., Lozanov I., Malina M., Martini F., McSweeney K., Meller H., Mentusic M., Mirea P., Moiseyev V., Petrova V., Douglas Price T., Simalcsik A., Sineo L., Slaus M., Slavchev V., Stanev P., Starovic A., Szeniczey T., Talamo S., Teschler-Nicola M., Thevenet C., Valchev I., Valentin F., Vasilyev S., Veljanovska F., Venelinova S., Veselovskaya E., Viola B., Virag C., Zaninovic J., Zauner S., Stockhammer P.W., Catalano G., Krauss R., Caramelli D., Zarina G., Gaydarska B., Lillie M., Nikitin A.G., Potekhina I., Papathanasiou A., Boric D., Bonsall C., Krause J., Pinhasi R., Reich D., Université de Franche-Comté (UFC), and Université Bourgogne Franche-Comté [COMUE] (UBFC)-Université Bourgogne Franche-Comté [COMUE] (UBFC)-Centre National de la Recherche Scientifique (CNRS)

Subjects
0301 basic medicine, Male, History, Steppe, 01 natural sciences, genome wide ancient DNA, 0302 clinical medicine, population dynamics, ComputingMilieux_MISCELLANEOUS, History, Ancient, 2. Zero hunger, 0303 health sciences, education.field_of_study, Multidisciplinary, geography.geographical_feature_category, Farmers, Genome, Agriculture, Cline (biology), Genomics, Grassland, Europe, Geography, Western europe, Ethnology, Female, southeastern Europe, Human, Archaeogenetics, 010506 paleontology, Asia, [SHS.ARCHEO]Humanities and Social Sciences/Archaeology and Prehistory, Human Migration, Population, Settore BIO/08 - Antropologia, Indigenous, Article, Ancient, 03 medical and health sciences, genetic variation, genomics, prehistoric Europe, prehistoric archeology, bioarchaeology, Bioarchaeology, Genetics, Humans, HUMANISTIC SCIENCES. Archeology, Farmer, DNA, Ancient, Sex Distribution, education, Mesolithic, 030304 developmental biology, 0105 earth and related environmental sciences, HUMANISTIČKE ZNANOSTI. Arheologija, Extramural, business.industry, Genome, Human, Ambientale, DNA, Archaeology, PRIRODNE ZNANOSTI. Biologija. Genetika, evolucija i filogenija, 030104 developmental biology, Ancient DNA, Genetics, Population, Ancient DNA, Genomics, Southeastern Europe, Genetic Variation, business, NATURAL SCIENCES. Biology. Genetics, Evolution and Phylogenetics, 030217 neurology & neurosurgery
Abstract

Farming was first introduced to southeastern Europe in the mid-7th millennium BCE - brought by migrants from Anatolia who settled in the region before spreading throughout Europe. However, the dynamics of the interaction between the first farmers and the indigenous hunter-gatherers remain poorly understood because of the near absence of ancient DNA from the region. We report new genome-wide ancient DNA data from 204 individuals-65 Paleolithic and Mesolithic, 93 Neolithic, and 46 Copper, Bronze and Iron Age-who lived in southeastern Europe and surrounding regions between about 12,000 and 500 BCE. We document that the hunter-gatherer populations of southeastern Europe, the Baltic, and the North Pontic Steppe were distinctive from those of western Europe, with a West-East cline of ancestry. We show that the people who brought farming to Europe were not part of a single population, as early farmers from southern Greece are not descended from the Neolithic population of northwestern Anatolia that was ancestral to all other European farmers. The ancestors of the first farmers of northern and western Europe passed through southeastern Europe with limited admixture with local hunter-gatherers, but we show that some groups that remained in the region mixed extensively with local hunter-gatherers, with relatively sex-balanced admixture compared to the male-biased hunter-gatherer admixture that we show prevailed later in the North and West. After the spread of farming, southeastern Europe continued to be a nexus between East and West, with intermittent steppe ancestry, including in individuals from the Varna I cemetery and associated with the Cucuteni-Trypillian archaeological complex, up to 2,000 years before the Steppe migration that replaced much of northern Europe9s population.

Published
2018
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