Journal
SCIENCE ADVANCES
Volume 5, Issue 12, Pages -Publisher
AMER ASSOC ADVANCEMENT SCIENCE
DOI: 10.1126/sciadv.aaw7908
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Funding
- Telethon Foundation [GGP14265]
- EPIGEN Flagship Project of the Italian National Research Council
- European Research Council [616441-DISEASEAVATARS]
- Horizon 2020 Innovative Training Network EpiSyStem
- Italian Ministry of Health
- Daunia Plast
- Fondazione Umberto Veronesi
- Spanish Ministry of Economy and Competitiveness/FEDER funds [FFI2016-78034-C2-1-P]
- Generalitat de Catalunya [2017-SGR-341]
- MEXT/JSPS [Evolinguistics: JP17H06379]
- European Union [PIRG-GA-2009-256413]
- European Social Fund [BES-2017-080366]
- Portuguese Foundation for Science and Technology [SFRH/BD/131640/2017]
- Foundation IEO-CCM
- Fundação para a Ciência e a Tecnologia [SFRH/BD/131640/2017] Funding Source: FCT
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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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