Differential DNA methylation of vocal and facial anatomy genes in modern humans

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  • dc.contributor.author Gokhman, David
  • dc.contributor.author García Pérez, Raquel, 1989-
  • dc.contributor.author Lizano González, Esther, 1974-
  • dc.contributor.author Ferrando-Bernal, Manuel, 1990-
  • dc.contributor.author Gelabert Xirinachs, Pere, 1991-
  • dc.contributor.author Lalueza Fox, Carles, 1965-
  • dc.contributor.author Marquès i Bonet, Tomàs, 1975-
  • dc.contributor.author Carmel, Liran
  • dc.date.accessioned 2020-04-21T07:38:31Z
  • dc.date.available 2020-04-21T07:38:31Z
  • dc.date.issued 2020
  • dc.description.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.
  • dc.description.sponsorship 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.
  • dc.format.mimetype application/pdf
  • dc.identifier.citation Gokhman D, Nissim-Rafinia M, Agranat-Tamir L, Housman G, García-Pérez R, Lizano E et al. Differential DNA methylation of vocal and facial anatomy genes in modern humans. Nat Commun. 2020; 11(1):1189. DOI: 10.1038/s41467-020-15020-6
  • dc.identifier.doi http://dx.doi.org/10.1038/s41467-020-15020-6
  • dc.identifier.issn 2041-1723
  • dc.identifier.uri http://hdl.handle.net/10230/44282
  • dc.language.iso eng
  • dc.publisher Nature Research
  • dc.relation.ispartof Nat Commun. 2020; 11(1):1189
  • dc.relation.projectID info:eu-repo/grantAgreement/EC/FP7/263441
  • dc.relation.projectID info:eu-repo/grantAgreement/ES/2PE/BFU2017-86471-P
  • dc.relation.projectID info:eu-repo/grantAgreement/ES/1PE/BFU2015-64699-P
  • dc.rights © The Author(s) 2020. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
  • dc.rights.accessRights info:eu-repo/semantics/openAccess
  • dc.rights.uri http://creativecommons.org/licenses/by/4.0/
  • dc.subject.keyword DNA methylation
  • dc.subject.keyword Epigenomics
  • dc.subject.keyword Evolutionary developmental biology
  • dc.subject.keyword Evolutionary genetics
  • dc.title Differential DNA methylation of vocal and facial anatomy genes in modern humans
  • dc.type info:eu-repo/semantics/article
  • dc.type.version info:eu-repo/semantics/publishedVersion

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