PT - JOURNAL ARTICLE AU - David Gokhman AU - Lily Agranat-Tamir AU - Genevieve Housman AU - Malka Nissim-Rafinia AU - Maria Nieves-Colon AU - Hongcang Gu AU - Manuel Ferrando AU - Pere Gelabert AU - Iddi Lipende 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 - 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 TI - Recent Regulatory Changes Shaped Human Facial and Vocal Anatomy AID - 10.1101/106955 DP - 2017 Jan 01 TA - bioRxiv PG - 106955 4099 - http://biorxiv.org/content/early/2017/02/16/106955.short 4100 - http://biorxiv.org/content/early/2017/02/16/106955.full AB - Identifying changes in gene regulation that shaped human-specific traits is critical to understanding human adaptation. Here, we use dozens of ancient and present-day DNA methylation maps to detect regulatory changes that emerged 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 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 shaped the modern human face and voice, and suggest that they arose after the split from Neanderthals and Denisovans.