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  • 1.
    de Thonel, Aurelie
    et al.
    Univ Paris, CNRS, Epigenet & Cell Fate, F-75013 Paris, France..
    Vihervaara, Anniina
    KTH, School of Engineering Sciences in Chemistry, Biotechnology and Health (CBH), Gene Technology. Abo Akad Univ, Fac Sci & Engn, Cell Biol, Turku, Finland.;Univ Turku, Turku Biosci Ctr, Turku, Finland..
    Mezger, Valerie
    Univ Paris, CNRS, Epigenet & Cell Fate, F-75013 Paris, France..
    et al.,
    CBP-HSF2 structural and functional interplay in Rubinstein-Taybi neurodevelopmental disorder2022In: Nature Communications, E-ISSN 2041-1723, Vol. 13, no 1, article id 7002Article in journal (Refereed)
    Abstract [en]

    Rubinstein-Taybi syndrome (RSTS) is a neurodevelopmental disorder with unclear underlying mechanisms. Here, the authors unravel the contribution of a stress-responsive pathway to RSTS where impaired HSF2 acetylation, due to RSTS-associated CBP/EP300 mutations, alters the expression of neurodevelopmental players, in keeping with hallmarks of cell-cell adhesion defects. Patients carrying autosomal dominant mutations in the histone/lysine acetyl transferases CBP or EP300 develop a neurodevelopmental disorder: Rubinstein-Taybi syndrome (RSTS). The biological pathways underlying these neurodevelopmental defects remain elusive. Here, we unravel the contribution of a stress-responsive pathway to RSTS. We characterize the structural and functional interaction between CBP/EP300 and heat-shock factor 2 (HSF2), a tuner of brain cortical development and major player in prenatal stress responses in the neocortex: CBP/EP300 acetylates HSF2, leading to the stabilization of the HSF2 protein. Consequently, RSTS patient-derived primary cells show decreased levels of HSF2 and HSF2-dependent alteration in their repertoire of molecular chaperones and stress response. Moreover, we unravel a CBP/EP300-HSF2-N-cadherin cascade that is also active in neurodevelopmental contexts, and show that its deregulation disturbs neuroepithelial integrity in 2D and 3D organoid models of cerebral development, generated from RSTS patient-derived iPSC cells, providing a molecular reading key for this complex pathology.

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