Loss of function mutations in genes encoding lysine methyltransferases responsible for trimethylation of histone 3 on lysine 4 (H3K4me3) are associated with a range of neurodevelopmental conditions. Intriguingly, mutations of H3K4me3-specific lysine demethylases (KDMs) are also associated with autism and intellectual disability. Mutations in KDM5B have been reported in patients with autism, intellectual disability and developmental delay. We hypothesised that a deficiency in the demethylation activity of KDM5B will lead to a dysregulated H3K4me3 epigenome, abnormal neurodevelopmental gene expr
ePoster · Neuroscience