TY - JOUR
T1 - Differential DNA methylation of vocal and facial anatomy genes in modern humans
AU - Gokhman, David
AU - Nissim-Rafinia, Malka
AU - Agranat-Tamir, Lily
AU - Housman, Genevieve
AU - García-Pérez, Raquel
AU - Lizano, Esther
AU - Cheronet, Olivia
AU - Mallick, Swapan
AU - Nieves-Colón, Maria A.
AU - Li, Heng
AU - Alpaslan-Roodenberg, Songül
AU - Novak, Mario
AU - Gu, Hongcang
AU - Osinski, Jason M.
AU - Ferrando-Bernal, Manuel
AU - Gelabert, Pere
AU - Lipende, Iddi
AU - Mjungu, Deus
AU - Kondova, Ivanela
AU - Bontrop, Ronald
AU - Kullmer, Ottmar
AU - Weber, Gerhard
AU - Shahar, Tal
AU - Dvir-Ginzberg, Mona
AU - Faerman, Marina
AU - Quillen, Ellen E.
AU - Meissner, Alexander
AU - Lahav, Yonatan
AU - Kandel, Leonid
AU - Liebergall, Meir
AU - Prada, María E.
AU - Vidal, Julio M.
AU - Gronostajski, Richard M.
AU - Stone, Anne C.
AU - Yakir, Benjamin
AU - Lalueza-Fox, Carles
AU - Pinhasi, Ron
AU - Reich, David
AU - Marques-Bonet, Tomas
AU - Meshorer, Eran
AU - Carmel, Liran
N1 - Funding Information:
We would like to thank Sagiv Shifman, Yoel Rak, Rodrigo Lacruz, Erella Hovers, Anna Belfer-Cohen, Achinoam Blau, Iain Mathieson, Philip Lieberman, Daniel Lieberman, and Terry Capellini for their useful advice, Svante Pääbo, Janet Kelso, Kay Prüfer, Johannes Krause, and Anne Pusey for providing data, Sjaak Kaandorp and Christine Kaandorp-Huber from Safari park Beekse Bergen in Netherlands for their cooperation in animal conservation and use for research, and Maayan Harel for illustrations. 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 Maggion-calda 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.
Publisher Copyright:
© 2020, The Author(s).
PY - 2020/12/1
Y1 - 2020/12/1
N2 - 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.
AB - 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.
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U2 - 10.1038/s41467-020-15020-6
DO - 10.1038/s41467-020-15020-6
M3 - Article
C2 - 32132541
AN - SCOPUS:85081232371
SN - 2041-1723
VL - 11
JO - Nature communications
JF - Nature communications
IS - 1
M1 - 1189
ER -