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:
CreatorsEmailORCIDORCID Put Code
Zanella, MatteoUNSPECIFIEDorcid.org/0000-0002-1614-4370UNSPECIFIED
Vitriolo, AlessandroUNSPECIFIEDorcid.org/0000-0002-1462-8064UNSPECIFIED
Andirko, AlejandroUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Tiago Martins, PedroUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Sturm, StefanieUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
O'Rourke, ThomasUNSPECIFIEDorcid.org/0000-0003-2231-8450UNSPECIFIED
Laugsch, MagdalenaUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Malerba, NatasciaUNSPECIFIEDorcid.org/0000-0003-0714-3314UNSPECIFIED
Skaros, AdrianosUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Trattaro, SebastianoUNSPECIFIEDorcid.org/0000-0002-3142-6747UNSPECIFIED
Germain, Pierre-LucUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Mihailovic, MarijaUNSPECIFIEDorcid.org/0000-0001-7478-2509UNSPECIFIED
Merla, GiuseppeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Rada-Iglesias, AlvaroUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Boeckx, CedricUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
Testa, GiuseppeUNSPECIFIEDUNSPECIFIEDUNSPECIFIED
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:
KeywordsLanguage
CRANIAL NEURAL CREST; SYNDROME TRANSCRIPTION FACTOR; INTELLECTUAL DISABILITY; GENOME SEQUENCE; CELLS; MICE; DIFFERENTIATION; EXPRESSION; MUTATIONS; DEFECTSMultiple languages
Multidisciplinary SciencesMultiple languages
Refereed: Yes
URI: http://kups.ub.uni-koeln.de/id/eprint/12556

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