Dosage Analysis of the 7q11.23 Williams Region Identifies As a Major Human Gene Patterning the Modern Human Face and Underlying Self-domestication

Overview

Journal Sci Adv

Specialties Biology
Science

Date 2019 Dec 17

PMID 31840056

Citations 42

Authors

Matteo Zanella

Alessandro Vitriolo

Alejandro Andirko

Pedro Tiago Martins

Stefanie Sturm

Thomas ORourke

Magdalena Laugsch

Natascia Malerba

Adrianos Skaros

Sebastiano Trattaro

Pierre-Luc Germain

Marija Mihailovic

Giuseppe Merla

Alvaro Rada-Iglesias

Cedric Boeckx

Giuseppe Testa

Affiliations

Soon will be listed here.

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.

Citing Articles

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