A novel iPSC model of Bryant-Li-Bhoj neurodevelopmental syndrome demonstrates the role of histone H3.3 in neuronal differentiation and maturation.
Annabel K SangreeRajesh AngireddyLaura M BryantDana E Layo-CarrisEmily E LubinXiao Min WangKelly J ClarkEmily E DurhamElizabeth Joyce BhojPublished in: bioRxiv : the preprint server for biology (2024)
expression, resulting in the hyper-deposition of H3.3 into the nucleosome which underlies changes in gene expression and chromatin accessibility. Functionally, this causes dysregulation of cell adhesion, neurotransmission, and the balance between excitatory and inhibitory signaling. These results are a crucial step towards preclinical development and testing of targeted therapies for this and related disorders.