Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication: Science advances

M. Zanella, A. Vitriolo, A. Andirko, P.T. Martins, S. Sturm, T. O'Rourke, M. Laugsch, N. Malerba, A. Skaros, S. Trattaro, P.-L. Germain, M. Mihailovic, G. Merla, A. Rada-Iglesias, C. Boeckx, G. Testa

Research output: Contribution to journalArticlepeer-review

Abstract

We undertook a functional dissection of chromatin remodeler BAZ1B in neural crest (NC) stem cells (NCSCs) from a uniquely informative cohort of typical and atypical patients harboring 7q11.23 copy number variants. Our results reveal a key contribution of BAZ1B to NCSC in vitro induction and migration, coupled with a crucial involvement in NC-specific transcriptional circuits and distal regulation. By intersecting our experimental data with new paleogenetic analyses comparing modern and archaic humans, we found a modern-specific enrichment for regulatory changes both in BAZ1B and its experimentally defined downstream targets, thereby providing the first empirical validation of the human self-domestication hypothesis and positioning BAZ1B as a master regulator of the modern human face. In so doing, we provide experimental evidence that the craniofacial and cognitive/behavioral phenotypes caused by alterations of the Williams-Beuren syndrome critical region can serve as a powerful entry point into the evolution of the modern human face and prosociality. Copyright © 2019 The Authors, some rights reserved; exclusive licensee American Association for the Advancement of Science. No claim to original U.S. Government Works. Distributed under a Creative Commons Attribution NonCommercial License 4.0 (CC BY-NC).
Original languageEnglish
Pages (from-to)eaaw7908
JournalScientific American
Volume5
Issue number12
DOIs
Publication statusPublished - 2019

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