The study highlights that alternative splicing of neuron-specific microexons, specifically in CPEB4, is often misregulated in individuals with idiopathic ASD and schizophrenia, resulting in significant disruptions in mRNA translation and expression.
Neuronal CPEB4, particularly the microexon 4 (me4) variant, plays a crucial role in regulating mRNA polyadenylation. Mice lacking this variant exhibit both molecular and behavioral phenotypes characteristic of ASD.
CPEBs are classified into two subfamilies based on their RNA-binding domains. These proteins not only contribute to mRNA transport but also play essential roles in neural development and memory, highlighting their importance in neurobiology.
The phosphorylation of CPEB2-CPEB4 leads to activation through the dissolution of translation-repression condensates, suggesting a complex mechanism by which CPEBs regulate neuronal function and contribute to the development of ASD-related phenotypes.
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