RT Journal Article
SR Electronic
T1 Extensive Regulatory Changes in Genes Affecting Vocal and Facial Anatomy Separate Modern from Archaic Humans
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 Heng Li
A1 Songül Alpaslan-Roodenberg
A1 Mario Novak
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 Ron Pinhasi
A1 Carles Lalueza-Fox
A1 David Reich
A1 Tomas Marques-Bonet
A1 Eran Meshorer
A1 Liran Carmel
YR 2017
UL http://biorxiv.org/content/early/2017/10/03/106955.abstract
AB Changes in gene regulation are broadly accepted as key drivers of phenotypic differences between closely related species. However, identifying regulatory changes that shaped human-specific traits is a challenging task. Here, we use >60 DNA methylation maps of ancient and present-day human groups, as well as six chimpanzees, to detect regulatory changes that emerged in modern humans after the split from Neanderthals and Denisovans. We show that genes affecting vocalization and facial features went through particularly extensive methylation changes. Specifically, we identify silencing patterns in a network of genes (SOX9, ACAN, COL2A1 and NFIX), and propose that they might have played a role in the reshaping of human facial morphology, and in forming the 1:1 vocal tract configuration that is considered optimal for speech. Our results provide insights into the molecular mechanisms that might underlie vocal and facial evolution, and suggest that they arose after the split from Neanderthals and Denisovans.