TY - JOUR T1 - Recent Regulatory Changes Shaped Human Facial and Vocal Anatomy JF - bioRxiv DO - 10.1101/106955 SP - 106955 AU - David Gokhman AU - Lily Agranat-Tamir AU - Genevieve Housman AU - Raquel García-Pérez AU - Malka Nissim-Rafinia AU - Maria A. Nieves-Colón AU - Hongcang Gu AU - Manuel Ferrando-Bernal AU - Pere Gelabert AU - Iddi Lipende AU - Ivanela Kondova AU - Ronald Bontrop AU - Ellen E. Quillen AU - Alexander Meissner AU - Anne C. Stone AU - Anne E. Pusey AU - Deus Mjungu AU - Leonid Kandel AU - Meir Liebergall AU - María E. Prada AU - Julio M. Vidal AU - Kay Prüfer AU - Johannes Krause AU - Benjamin Yakir AU - Svante Pääbo AU - David Reich AU - Carles Lalueza-Fox AU - Tomas Marques-Bonet AU - Eran Meshorer AU - Liran Carmel Y1 - 2017/01/01 UR - http://biorxiv.org/content/early/2017/03/20/106955.abstract N2 - Identifying changes in gene regulation that shaped human-specific traits is critical to understanding human evolution. Here, we use >60 DNA methylation maps of chimpanzees and 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 the modern human face and voice, and suggest that they arose after the split from Neanderthals and Denisovans. ER -