Earlier this year we uncovered 🧠 neuron-specific splicing events for 14 chromatin regulators 🧬 including H3K4 demethylase #LSD1 and reader #PHF21A. Alternative splicing of ubiquitously-expressed chromatin regulators, therefore, can exert neuron-specific function.

#PHF21A is in the spotlight! Last year we published that neuronal PHF21A isoform expression precedes neuronal LSD1 expression during human neuron differentiation and mouse brain development. Using mouse models we show Phf21a neuronal splicing prevents excess synapse formation.

New paper alert! 📣 A #PHF21A variant reduces splicing efficiency of PHF21A isoforms while maintaining DNA binding capability. Reduced dosage rather than impaired DNA binding likely contributes to the cognitive impairments seen in the individual with this variant.