RT Journal Article SR Electronic T1 Recent Regulatory Changes Shaped Human Facial and Vocal Anatomy JF bioRxiv FD Cold Spring Harbor Laboratory SP 106955 DO 10.1101/106955 A1 David Gokhman A1 Lily Agranat-Tamir A1 Genevieve Housman A1 Raquel García-Pérez A1 Malka Nissim-Rafinia A1 Swapan Mallick A1 Maria A. Nieves-Colón A1 Hongcang Gu A1 Manuel Ferrando-Bernal A1 Pere Gelabert A1 Iddi Lipende A1 Ivanela Kondova A1 Ronald Bontrop A1 Ellen E. Quillen A1 Alexander Meissner A1 Anne C. Stone A1 Anne E. Pusey A1 Deus Mjungu A1 Leonid Kandel A1 Meir Liebergall A1 María E. Prada A1 Julio M. Vidal A1 Kay Prüfer A1 Johannes Krause A1 Benjamin Yakir A1 Svante Pääbo A1 David Reich A1 Carles Lalueza-Fox A1 Tomas Marques-Bonet A1 Eran Meshorer A1 Liran Carmel YR 2017 UL http://biorxiv.org/content/early/2017/04/05/106955.abstract AB Identifying changes in gene regulation that shaped human-specific traits is critical to understanding human evolution. Here, we use >60 DNA methylation maps of different human groups, both present-day and ancient, as well as six chimpanzee maps, to detect regulatory changes that emerged specifically in modern humans. We show that genes affecting vocalization and facial features went through particularly extensive changes in methylation. Especially, we identify expansive changes in a network of genes regulating skeletal development (SOX9, ACAN and COL2A1), and in NFIX, which controls facial projection and voice box (larynx) development. We propose that these changes might have played a key role in shaping the human face, and in forming the human 1:1 vocal tract configuration that is considered optimal for speech. Our results provide insights into the molecular mechanisms that underlie modern human face and voice, and suggest that they arose after the split from Neanderthals and Denisovans.