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Sci Adv. 2019 Dec 4;5(12):eaaw7908. doi: 10.1126/sciadv.aaw7908. eCollection 2019 Dec.

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

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Department of Oncology and Hemato-Oncology, University of Milan, Milan, Italy.
Laboratory of Stem Cell Epigenetics, IEO, European Institute of Oncology, IRCCS, Milan, Italy.
University of Barcelona, Barcelona, Spain.
University of Barcelona Institute of Complex Systems (UBICS), Barcelona, Spain.
Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.
Institute of Human Genetics, University Hospital Cologne, Cologne, Germany.
Institute of Human Genetics, University Hospital Heidelberg, Heidelberg, Germany.
Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia, Italy.
D-HEST Institute for Neuroscience, ETH Zürich, Switzerland.
Cluster of Excellence Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Germany.
Institute of Biomedicine and Biotechnology of Cantabria, University of Cantabria, Cantabria, Spain.
Catalan Institute for Advanced Studies and Research (ICREA), Barcelona, Spain.
Human Technopole, Center for Neurogenomics, Via Cristina Belgioioso 171, Milan, Italy.


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.

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