1. Differential DNA methylation of vocal and facial anatomy genes in modern humans
- Author
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Mona Dvir-Ginzberg, Malka Nissim-Rafinia, Tal Shahar, Iddi Lipende, Ronald E. Bontrop, David Reich, Lily Agranat-Tamir, Liran Carmel, Heng Li, Ottmar Kullmer, Yonatan Lahav, Genevieve Housman, Eran Meshorer, Maria A. Nieves-Colón, Olivia Cheronet, Marina Faerman, Richard M. Gronostajski, David Gokhman, Leonid Kandel, Mario Novak, Julio M. Vidal, Carles Lalueza-Fox, Raquel García-Pérez, Anne C. Stone, Esther Lizano, Songül Alpaslan-Roodenberg, Benjamin Yakir, Ellen E. Quillen, Hongcang Gu, Alexander Meissner, Deus Mjungu, Ron Pinhasi, Gerhard W. Weber, Swapan Mallick, Jason M. Osinski, María E. Prada, Manuel Ferrando-Bernal, Tomas Marques-Bonet, Pere Gelabert, Meir Liebergall, Ivanela Kondova, Clore Israel Foundation, Ministerio de Ciencia, Innovación y Universidades (España), Agencia Estatal de Investigación (España), European Commission, Fundación 'la Caixa', Generalitat de Catalunya, Howard Hughes Medical Institute, Paul G. Allen Family Foundation, Ministerio de Economía y Competitividad (España), European Research Council, New York State Stem Cell Science, Leakey Foundation, Wenner-Gren Foundation, Nacey Maggioncalda Foundation, International Primatological Society, Sigma Xi, Center for Evolution and Medicine (US), School of Human Evolution and Social Change (US), Jane Goodall Institute, National Institutes of Health (US), and National Science Foundation (US)
- Subjects
Epigenomics ,0301 basic medicine ,Male ,Gene regulatory network ,Methylation ,anatomy ,vocal ,facial ,modern humans ,General Physics and Astronomy ,Vocal Cords ,0302 clinical medicine ,Gene Regulatory Networks ,lcsh:Science ,Child ,Cells, Cultured ,Neanderthals ,DNA methylation ,Multidisciplinary ,biology ,Middle Aged ,DNA Ancient ,NFIX ,Phenotype ,3. Good health ,Evolution Molecular ,Vocalization Animal ,Female ,Evolutionary developmental biology ,Larynx ,Vocal tract ,Adult ,Pan troglodytes ,Genetic Speciation ,Science ,Primary Cell Culture ,Article ,Evolutionary genetics ,General Biochemistry, Genetics and Molecular Biology ,Evolution, Molecular ,03 medical and health sciences ,Chondrocytes ,Phonation ,Tongue ,Animals ,Humans ,DNA, Ancient ,Gene ,Aged ,General Chemistry ,DNA Methylation ,030104 developmental biology ,Differentially methylated regions ,Evolutionary biology ,Face ,biology.protein ,lcsh:Q ,Vocalization, Animal ,Cells Cultured ,030217 neurology & neurosurgery - Abstract
Changes in potential regulatory elements are thought to be key drivers of phenotypic divergence. However, identifying changes to regulatory elements that underlie human-specific traits has proven very challenging. Here, we use 63 reconstructed and experimentally measured DNA methylation maps of ancient and present-day humans, as well as of six chimpanzees, to detect differentially methylated regions that likely emerged in modern humans after the split from Neanderthals and Denisovans. We show that genes associated with face and vocal tract anatomy went through particularly extensive methylation changes. Specifically, we identify widespread hypermethylation in a network of face- and voice-associated genes (SOX9, ACAN, COL2A1, NFIX and XYLT1). We propose that these repression patterns appeared after the split from Neanderthals and Denisovans, and that they might have played a key role in shaping the modern human face and vocal tract., D.G. is supported by the Clore Israel Foundation. TMB is supported by BFU2017-86471-P (MINECO/FEDER, UE), U01 MH106874 grant, Howard Hughes International Early Career, Obra Social “La Caixa” and Secretaria d’Universitats i Recerca and CERCA Program del Departament d’Economia i Coneixement de la Generalitat de Catalunya. D.R. is an Investigator of the Howard Hughes Medical Institute and is also supported by an Allen Discovery Center for the Study of Human Brain Evolution funded the Paul G. Allen Family Foundation. C.L.-F. is supported by FEDER and BFU2015-64699-P grant from the Spanish government. R.P. was supported by ERC starting grant ADNABIOARC (263441). R.M.G. and J.M.O. are supported by NYSTEM contract C030133. Funding for the collection and processing of the 850K chimpanzee data was provided by the Leakey Foundation Research Grant for Doctoral Students, Wenner-Gren Foundation Dissertation Fieldwork Grant (Gr. 9310), James F. Nacey Fellowship from the Nacey Maggioncalda Foundation, International Primatological Society Research Grant, Sigma Xi Grant-in-Aid of Research, Center for Evolution and Medicine Venture Fund (ASU), Graduate Research and Support Program Grant (GPSA, ASU), and Graduate Student Research Grant (SHESC, ASU) to G.H. Collection of the chimpanzee bone from Tanzania was funded by the Jane Goodall Institute, and grants from the US National Institutes of Health (AI 058715) and National Science Foundation (IOS-1052693), and facilitated by Elizabeth Lonsdorf and Beatrice Hahn.
- Published
- 2020