NIH R01 · 2024
The role of EZH1 in neuronal differentiation and neurological disorders
PROJECT SUMMARY Intellectual disabilities (ID) are lifelong conditions caused by neurodevelopmental errors. We recently identified gain and loss of function (GOF and LOF) mutations in the chromatin modifier Enhancer of Zeste Homologue 1 (EZH1) as the cause a previously undiagnosed intellectual disability syndrome in ten children. EZH1 is one of the two Histone H3 Lysine 27 (H3K27) methyltransferases of the Polycomb Repressive Complex 2 (PRC2). The other one, EZH2, has long been considered the main responsible for H3K27 di and trimethylation (H3K27me2/3) and PRC2 mediated transcriptional repression, in part owing to a weaker catalytic activity of EZH1. EZH2 is highly expressed in dividing…
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