Gokhman, DavidGarcía Pérez, Raquel, 1989-Lizano González, Esther, 1974-Ferrando-Bernal, Manuel, 1990-Gelabert Xirinachs, Pere, 1991-Lalueza Fox, Carles, 1965-Marquès i Bonet, Tomàs, 1975-Carmel, Liran2020-04-212020-04-212020Gokhman 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/s41467-020-15020-62041-1723http://hdl.handle.net/10230/44282Changes 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.application/pdfeng© 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/.info:eu-repo/semantics/articlehttp://dx.doi.org/10.1038/s41467-020-15020-6DNA methylationEpigenomicsEvolutionary developmental biologyEvolutionary geneticsinfo:eu-repo/semantics/openAccess