TY - JOUR T1 - Recent Regulatory Changes Shaped the Human Facial and Vocal Anatomy JF - bioRxiv DO - 10.1101/106955 SP - 106955 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 Y1 - 2017/01/01 UR - http://biorxiv.org/content/early/2017/02/08/106955.1.abstract N2 - Examining recent regulatory changes that drove human-specific traits is critical to understanding human adaptation. Here, we use dozens of ancient and present-day DNA methylation maps to identify regions where regulation changed in recent human evolution. We show that genes affecting the voice and face went through particularly extensive changes. This is evident both in the number of differentially methylated genes, and in the magnitude of alterations within each gene. We identify expansive changes in a network of genes regulating early skeletal development (SOX9, ACAN and COL2A1), and in NFIX, which controls facial projection and voice box (larynx) development. We propose that these regulatory changes played a key role in the shaping of the human face, as well as in the formation of the unique 1:1 configuration of the human vocal tract that is optimal for speech. Our results provide insight into the molecular mechanisms that formed the modern human face and vocal tract, and suggest that they arose after the split from the Neanderthal and the Denisovan. ER -