Mutations in chromatin regulators have emerged as a major cause of neurodevelopmental disorders with unknown mechanisms. Our group has been interested in the mechanisms by which chromatin regulators contribute to normal and pathological neurodevelopment. In this presentation, I would like to share what we have learned about two methyl-histone regulatory genes; a histone demethylase KDM5C, and a histone-binding protein, PHF21A. The two genes are mutated in rare neurodevelopmental disorders, and they are regulators of histone H3K4 methylation, which marks transcriptionally engaged chromatin. Our investigations have revealed new mechanisms by which these H3K4 regulators sculpt cellular identity and gene expression landscape in a neuron-specific manner. The findings provide insights into chromatin neurobiology and potential targets for therapeutic interventions.
“Histone H3K4 methylation dynamics in neurodevelopment”
