Evolution of immune genes is associated with the Black Death.

Autor: Klunk J; McMaster Ancient DNA Centre, Departments of Anthropology, Biology and Biochemistry, McMaster University, Hamilton, Ontario, Canada.; Daicel Arbor Biosciences, Ann Arbor, MI, USA., Vilgalys TP; Section of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, IL, USA., Demeure CE; Yersinia Research Unit, Institut Pasteur, Paris, France., Cheng X; Department of Ecology and Evolution, University of Chicago, Chicago, IL, USA., Shiratori M; Section of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, IL, USA., Madej J; Yersinia Research Unit, Institut Pasteur, Paris, France., Beau R; Yersinia Research Unit, Institut Pasteur, Paris, France., Elli D; Department of Microbiology, Ricketts Laboratory, University of Chicago, Lemont, IL, USA., Patino MI; Section of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, IL, USA., Redfern R; Centre for Human Bioarchaeology, Museum of London, London, UK., DeWitte SN; Department of Anthropology, University of South Carolina, Columbia, SC, USA., Gamble JA; Department of Anthropology, University of Manitoba, Winnipeg, Manitoba, Canada., Boldsen JL; Department of Forensic Medicine, Unit of Anthropology (ADBOU), University of Southern Denmark, Odense S, Denmark., Carmichael A; History Department, Indiana University, Bloomington, IN, USA., Varlik N; Department of History, Rutgers University, Newark, NJ, USA., Eaton K; McMaster Ancient DNA Centre, Departments of Anthropology, Biology and Biochemistry, McMaster University, Hamilton, Ontario, Canada., Grenier JC; Montreal Heart Institute, Faculty of Medicine, Université de Montréal, Montréal, Quebec, Canada., Golding GB; McMaster Ancient DNA Centre, Departments of Anthropology, Biology and Biochemistry, McMaster University, Hamilton, Ontario, Canada., Devault A; Daicel Arbor Biosciences, Ann Arbor, MI, USA., Rouillard JM; Daicel Arbor Biosciences, Ann Arbor, MI, USA.; Department of Chemical Engineering, University of Michigan - Ann Arbor, Ann Arbor, MI, USA., Yotova V; Centre Hospitalier Universitaire Sainte-Justine, Montréal, Quebec, Canada., Sindeaux R; Centre Hospitalier Universitaire Sainte-Justine, Montréal, Quebec, Canada., Ye CJ; Division of Rheumatology, Department of Medicine, University of California, San Francisco, CA, USA.; Institute for Human Genetics, University of California, San Francisco, CA, USA., Bikaran M; Division of Rheumatology, Department of Medicine, University of California, San Francisco, CA, USA.; Institute for Human Genetics, University of California, San Francisco, CA, USA., Dumaine A; Section of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, IL, USA., Brinkworth JF; Department of Anthropology, University of Illinois Urbana-Champaign, Urbana, IL, USA.; Carl R Woese Institute for Genomic Biology, University of Illinois at Urbana-Champaign, Urbana, IL, USA., Missiakas D; Department of Microbiology, Ricketts Laboratory, University of Chicago, Lemont, IL, USA., Rouleau GA; Montreal Neurological Institute-Hospital, McGill University, Montréal, Quebec, Canada., Steinrücken M; Department of Ecology and Evolution, University of Chicago, Chicago, IL, USA.; Department of Human Genetics, University of Chicago, Chicago, IL, USA., Pizarro-Cerdá J; Yersinia Research Unit, Institut Pasteur, Paris, France., Poinar HN; McMaster Ancient DNA Centre, Departments of Anthropology, Biology and Biochemistry, McMaster University, Hamilton, Ontario, Canada. poinarh@mcmaster.ca.; Michael G. DeGroote Institute of Infectious Disease Research, McMaster University, Hamilton, Ontario, Canada. poinarh@mcmaster.ca.; Humans and the Microbiome Program, Canadian Institute for Advanced Research, Toronto, Ontario, Canada. poinarh@mcmaster.ca., Barreiro LB; Section of Genetic Medicine, Department of Medicine, University of Chicago, Chicago, IL, USA. lbarreiro@uchicago.edu.; Department of Human Genetics, University of Chicago, Chicago, IL, USA. lbarreiro@uchicago.edu.; Committee on Genetics, Genomics, and Systems Biology, University of Chicago, Chicago, IL, USA. lbarreiro@uchicago.edu.; Committee on Immunology, University of Chicago, Chicago, IL, USA. lbarreiro@uchicago.edu.
Jazyk: angličtina
Zdroj: Nature [Nature] 2022 Nov; Vol. 611 (7935), pp. 312-319. Date of Electronic Publication: 2022 Oct 19.
DOI: 10.1038/s41586-022-05349-x
Abstrakt: Infectious diseases are among the strongest selective pressures driving human evolution 1,2 . This includes the single greatest mortality event in recorded history, the first outbreak of the second pandemic of plague, commonly called the Black Death, which was caused by the bacterium Yersinia pestis 3 . This pandemic devastated Afro-Eurasia, killing up to 30-50% of the population 4 . To identify loci that may have been under selection during the Black Death, we characterized genetic variation around immune-related genes from 206 ancient DNA extracts, stemming from two different European populations before, during and after the Black Death. Immune loci are strongly enriched for highly differentiated sites relative to a set of non-immune loci, suggesting positive selection. We identify 245 variants that are highly differentiated within the London dataset, four of which were replicated in an independent cohort from Denmark, and represent the strongest candidates for positive selection. The selected allele for one of these variants, rs2549794, is associated with the production of a full-length (versus truncated) ERAP2 transcript, variation in cytokine response to Y. pestis and increased ability to control intracellular Y. pestis in macrophages. Finally, we show that protective variants overlap with alleles that are today associated with increased susceptibility to autoimmune diseases, providing empirical evidence for the role played by past pandemics in shaping present-day susceptibility to disease.
(© 2022. The Author(s), under exclusive licence to Springer Nature Limited.)
Databáze: MEDLINE
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