Histone H1 variants regulate neurodevelopmental transcriptional programs in autism with 16p11.2 deletion

This study identifies genetic associations between autism susceptibility and histone H1 gene variants through genome-wide analysis and finds consistent upregulation of H1.2 and H1.5 in autism and 16p11.2 deletion carriers across multiple brain tissue types. The research demonstrates that dysregulated H1 expression disrupts genes involved in synaptic function and neural development, with the mechanism linked to MAZ transcription factor dysfunction within the 16p11.2 locus.