Evolution of immune genes is associated with the Black Death

Autor: Jennifer Klunk, Tauras P. Vilgalys, Christian E. Demeure, Xiaoheng Cheng, Mari Shiratori, Julien Madej, Rémi Beau, Derek Elli, Maria I. Patino, Rebecca Redfern, Sharon N. DeWitte, Julia A. Gamble, Jesper L. Boldsen, Ann Carmichael, Nükhet Varlik, Katherine Eaton, Jean-Christophe Grenier, G. Brian Golding, Alison Devault, Jean-Marie Rouillard, Vania Yotova, Renata Sindeaux, Chun Jimmie Ye, Matin Bikaran, Anne Dumaine, Jessica F. Brinkworth, Dominique Missiakas, Guy A. Rouleau, Matthias Steinrücken, Javier Pizarro-Cerdá, Hendrik N. Poinar, Luis B. Barreiro
Přispěvatelé: McMaster Ancient DNA Center [Hamilton, Ontario], McMaster University [Hamilton, Ontario], Daicel Arbor Biosciences [Ann Arbor, MI], University of Chicago, Yersinia, Université Paris Cité (UPCité)-Microbiologie Intégrative et Moléculaire (UMR6047), Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Institut Pasteur [Paris] (IP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Museum of London, University of South Carolina [Columbia], University of Manitoba [Winnipeg], University of Southern Denmark (SDU), Indiana University [Bloomington], Indiana University System, Rutgers University [Newark], Rutgers University System (Rutgers), Université de Montréal (UdeM), University of Michigan [Ann Arbor], University of Michigan System, Centre de recherche du CHU Sainte-Justine / Research Center of the Sainte-Justine University Hospital [Montreal, Canada], Université de Montréal (UdeM)-CHU Sainte Justine [Montréal], University of California [San Francisco] (UC San Francisco), University of California (UC), University of Illinois at Urbana-Champaign [Urbana], University of Illinois System, McGill University = Université McGill [Montréal, Canada], This work was supported by grant R01-GM134376 to L.B.B., H.P. and J.P.-C., a grant from the Wenner-Gren Foundation to J.F.B. (8702), and the UChicago DDRCC, Center for Interdisciplinary Study of Inflammatory Intestinal Disorders (C-IID) (NIDDK P30 DK042086). The SSHRC Insight Development Grant supported the collection of the Danish samples (430-2017-01193). H.N.P. was supported by an Insight Grant no. 20008499 from the Social Sciences and Humanities Research Council of Canada (SSHRC) and The Canadian Institute for Advanced Research under the Humans and the Microbiome programme. T.P.V. was supported by NIH F32GM140568. X.C. and M. Steinrücken were supported by grant R01GM146051. We also thank the University of Chicago Genomics Facility (RRID:SCR_019196), especially P. Faber, for their assistance with RNA sequencing. H.P. thanks D. Poinar for continued support and manuscript suggestions and editing.
Rok vydání: 2022
Předmět:
Zdroj: Nature, vol 611, iss 7935
Nature
Nature, 2022, ⟨10.1038/s41586-022-05349-x⟩
ISSN: 1476-4687
0028-0836
DOI: 10.1038/s41586-022-05349-x
Popis: International audience; Infectious diseases are among the strongest selective pressures driving human evolution1,2. 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 pestis3. This pandemic devastated Afro-Eurasia, killing up to 30-50% of the population4. 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.
Databáze: OpenAIRE
Externí odkaz: