RT Journal Article
SR Electronic
T1 Recent Regulatory Changes Shaped the 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 Malka Nissim-Rafinia
A1 Maria Nieves-Colon
A1 Hongcang Gu
A1 Manuel Ferrando
A1 Pere Gelabert
A1 Iddi Lipende
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 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/2017/02/14/106955.abstract
AB 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.