Disruption of ADNP-KDM1A-GTF2I complex drives neural differentiation imbalance in Helsmoortel-Van der Aa syndrome [ ChIP-seq ]

This work attempt at characterizing the DNA binding activity of ADNP in healthy lines, HVDAS lines, and ADNP KO lines. We profiled also the epigenomic landscape of the same lines, to reconstruct the molecular basis of HVDAS at early stages of neurodevelopment. We performed ChIP-seq of active enhancers histone marks (H3K4me1 and H3K27ac), CTCF, and ADNP, in fibroblast-derived induced pluripotent stem cells (iPSC), and performed ChIP-seq of histone marks, CTCF, GTF2I, LSD1 and ADNP in H9 Neural stem cells (NSC).