Suchergebnisse

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. ; This work was funded by the Telethon Foundation (grant number GGP14265 to G.T. and G.M.), the EPIGEN Flagship Project of the Italian National Research Council (to G.T.), the European Research Council (consolidator grant number 616441-DISEASEAVATARS to G.T.), the Horizon 2020 Innovative Training Network EpiSyStem (to G.T.), Ricerca Corrente granted by the Italian Ministry of Health (to G.T. and G.M.) Giovani Ricercatori granted by the Italian Ministry of Health (to G.T.), Daunia Plast (to G.M.), Fondazione Umberto Veronesi (to P.-L.G.), the Foundation IEO-CCM (fellowship to A.V.), the Spanish Ministry of Economy and Competitiveness/FEDER funds (grant FFI2016-78034-C2-1-P to C.B.), the Generalitat de Catalunya (grant 2017-SGR-341 to C.B. and doctoral fellowships to T.O. and S.S.), the MEXT/JSPS Grant-in-Aid for Scientific Research on Innovative Areas 4903 [Evolinguistics: JP17H06379 (C.B.; PI: K. Okanoya)], a Marie Curie International Reintegration Grant from the European Union (PIRG-GA-2009-256413 to C.B.), the European Social Fund (grant BES-2017-080366 to A.A.), and the Portuguese Foundation for Science and Technology (PhD grant number SFRH/BD/131640/2017 to P.T.M.). M.Z., A.V., A.S., and S.T. conducted this study as fulfillment of their Ph.D. within the European School of Molecular Medicine (SEMM), Milan, Italy. ; Peer reviewed

The EuroBioBank (EBB) network (www.eurobiobank.org) is the first operating network of biobanks in Europe to provide human DNA, cell and tissue samples as a service to the scientific community conducting research on rare diseases (RDs). The EBB was established in 2001 to facilitate access to RD biospecimens and associated data; it obtained funding from the European Commission in 2002 (5th framework programme) and started operation in 2003. The set-up phase, during the EC funding period 2003–2006, established the basis for running the network; the following consolidation phase has seen the growth of the network through the joining of new partners, better network cohesion, improved coordination of activities, and the development of a quality-control system. During this phase the network participated in the EC-funded TREAT-NMD programme and was involved in planning of the European Biobanking and Biomolecular Resources Research Infrastructure. Recently, EBB became a partner of RD-Connect, an FP7 EU programme aimed at linking RD biobanks, registries, and bioinformatics data. Within RD-Connect, EBB contributes expertise, promotes high professional standards, and best practices in RD biobanking, is implementing integration with RD patient registries and 'omics' data, thus challenging the fragmentation of international cooperation on the field.