@article {320970,
	title = {Dosage analysis of the 7q11.23 Williams region identifies as a major human gene patterning the modern human face and underlying self-domestication.},
	journal = {Sci Adv},
	volume = {5},
	year = {2019},
	month = {2019 12},
	pages = {eaaw7908},
	abstract = {<p>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.</p>
},
	issn = {2375-2548},
	doi = {10.1126/sciadv.aaw7908},
	author = {Zanella, Matteo and Vitriolo, Alessandro and Andirko, Alejandro and Martins, Pedro Tiago and Sturm, Stefanie and O{\textquoteright}Rourke, Thomas and Laugsch, Magdalena and Malerba, Natascia and Skaros, Adrianos and Trattaro, Sebastiano and Germain, Pierre-Luc and Mihailovic, Marija and Merla, Giuseppe and Rada-Iglesias, Alvaro and Boeckx, Cedric and Testa, Giuseppe}
}
