Universität zu Köln

Zanella, Matteo ORCID: 0000-0002-1614-4370, Vitriolo, Alessandro ORCID: 0000-0002-1462-8064, Andirko, Alejandro, Tiago Martins, Pedro, Sturm, Stefanie, O'Rourke, Thomas ORCID: 0000-0003-2231-8450, Laugsch, Magdalena, Malerba, Natascia ORCID: 0000-0003-0714-3314, Skaros, Adrianos, Trattaro, Sebastiano ORCID: 0000-0002-3142-6747, Germain, Pierre-Luc, Mihailovic, Marija ORCID: 0000-0001-7478-2509, Merla, Giuseppe, Rada-Iglesias, Alvaro, Boeckx, Cedric and Testa, Giuseppe (2019). Dosage analysis of the 7q11.23 Williams region identifies BAZ1B as a major human gene patterning the modern human face and underlying self-domestication. Sci. Adv., 5 (12). WASHINGTON: AMER ASSOC ADVANCEMENT SCIENCE. ISSN 2375-2548

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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.

Item Type:	Journal Article
Creators:	Creators Email ORCID ORCID Put Code Zanella, Matteo UNSPECIFIED orcid.org/0000-0002-1614-4370 UNSPECIFIED Vitriolo, Alessandro UNSPECIFIED orcid.org/0000-0002-1462-8064 UNSPECIFIED Andirko, Alejandro UNSPECIFIED UNSPECIFIED UNSPECIFIED Tiago Martins, Pedro UNSPECIFIED UNSPECIFIED UNSPECIFIED Sturm, Stefanie UNSPECIFIED UNSPECIFIED UNSPECIFIED O'Rourke, Thomas UNSPECIFIED orcid.org/0000-0003-2231-8450 UNSPECIFIED Laugsch, Magdalena UNSPECIFIED UNSPECIFIED UNSPECIFIED Malerba, Natascia UNSPECIFIED orcid.org/0000-0003-0714-3314 UNSPECIFIED Skaros, Adrianos UNSPECIFIED UNSPECIFIED UNSPECIFIED Trattaro, Sebastiano UNSPECIFIED orcid.org/0000-0002-3142-6747 UNSPECIFIED Germain, Pierre-Luc UNSPECIFIED UNSPECIFIED UNSPECIFIED Mihailovic, Marija UNSPECIFIED orcid.org/0000-0001-7478-2509 UNSPECIFIED Merla, Giuseppe UNSPECIFIED UNSPECIFIED UNSPECIFIED Rada-Iglesias, Alvaro UNSPECIFIED UNSPECIFIED UNSPECIFIED Boeckx, Cedric UNSPECIFIED UNSPECIFIED UNSPECIFIED Testa, Giuseppe UNSPECIFIED UNSPECIFIED UNSPECIFIED
URN:	urn:nbn:de:hbz:38-125562
DOI:	10.1126/sciadv.aaw7908
Journal or Publication Title:	Sci. Adv.
Volume:	5
Number:	12
Date:	2019
Publisher:	AMER ASSOC ADVANCEMENT SCIENCE
Place of Publication:	WASHINGTON
ISSN:	2375-2548
Language:	English
Faculty:	Unspecified
Divisions:	Unspecified
Subjects:	no entry
Uncontrolled Keywords:	Keywords Language CRANIAL NEURAL CREST; SYNDROME TRANSCRIPTION FACTOR; INTELLECTUAL DISABILITY; GENOME SEQUENCE; CELLS; MICE; DIFFERENTIATION; EXPRESSION; MUTATIONS; DEFECTS Multiple languages Multidisciplinary Sciences Multiple languages
Refereed:	Yes
URI:	http://kups.ub.uni-koeln.de/id/eprint/12556