It is shown that IDR-mediated assembly of the RNA-binding protein CELF2 coordinates tau exon 10 splicing through interactions with NOVA2 and SFPQ, regulating 4 R tau expression and neurological function and impacts tau-related neurodegeneration.
Abstract
Alternative splicing is a fundamental mechanism underlying protein diversity. The microtubule-associated protein tau (MAPT) undergoes age-associated alternative splicing of exon 10 to generate 3 R and 4 R isoforms, and disruption of the 4 R:3 R ratio is a central feature of tauopathies. However, the molecular mechanisms regulating tau exon 10 splicing remain incompletely understood. Here we identify a clustering-based mechanism underlying tau splicing regulation by the RNA-binding protein CELF2. An intrinsically disordered region (IDR) within the CELF2 hinge domain mediates multivalent assembly and is required for splicing activity. NOVA2 and SFPQ co-cluster with CELF2 and cooperatively regulate tau exon 10 splicing. A conserved negatively charged residue, D388, is essential for CELF2 assembly, protein interactions, and splicing function. In vivo, the assembly capacity of CELF2 correlates with 4 R tau expression and influences locomotor and cognitive performance. Together, these findings support that IDR-mediated higher-order assembly of CELF2 coordinates tau splicing regulation and impacts tau-related neurodegeneration. Alternative splicing of tau is critical for nervous system function, and disruption of tau isoform balance is linked to neurodegenerative disease. Here, the authors show that IDR-mediated assembly of the RNA-binding protein CELF2 coordinates tau exon 10 splicing through interactions with NOVA2 and SFPQ, regulating 4 R tau expression and neurological function.
Treatment with splicing modulator compounds that promote MAPT exon 10 exclusion reduced 4R tau expression and decreased the accumulation of hyperphosphorylated tau (pTau) and oligomeric and insoluble tau proteoforms, thereby rescuing tau-associated neuronal toxicity.
M. Silva, Hannah Lindmeier, Paolo Pigini et al.· Science Translational Medici...· 1 citation· ⚡1
This review explores the molecular mechanisms regulating exon 10 splicing, focusing on how exonic and intronic splicing mutations destabilise mRNA structures or alter splicing factor binding, and discusses how these changes can cause disease symptoms in experimental models.
Background/Objectives: Alzheimer’s disease (AD) is a neurodegenerative disorder characterized by progressive cognitive decline. Most AD cases are sporadic, with both environmental and genetic factors contributing to disease onset and progression. TREM2, an AD susceptibility gene, encodes a receptor protein expressed on...
Hina Yamada, Motoaki Yanaizu, Naoki Iwai et al.· Genes· 0 citations
A novel PINK1-(phospho)p47-STIP1 signaling axis that promotes dendritic complexity and protects against tau-induced neurodegeneration in cortical neurons is highlighted.
Sukanya Banerjee, Kent Z. Q. Wang, M. DeChellis-Marks et al.· Neurobiology of Disease· 0 citations
Investigating the mechanisms underlying the reduction of p-tau217+ EVs to uncover AD therapeutic targets reveals a role of HSPA8 in regulating the MVB-mediated EV release and tau propagation, and highlights HSPA8 as a promising therapeutic target for modifying AD progression.
Bin Xu, Zhen Guo, Jun Chen et al.· Translational Neurodegenerat...· 0 citations
GDE2 is identified as a component of the complex regulatory network that controls Tau phosphorylation in the context of tauopathy and provides insight into putative pathways relevant to Tau pathologies observed in disease.
Consuelo Jimenez-Ornelas, S. Sockanathan· bioRxiv· 0 citations
We use cookies to run the site and, with your consent, for analytics and to show ads.
See our Cookie Policy.