ArticleThe Journal of biological chemistry2003
Mutations in tau gene exon 10 associated with FTDP-17 alter the activity of an exonic splicing enhancer to interact with Tra2 beta.
Article in The Journal of biological chemistry, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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Who cites it
52 citing papers in PubMed, 109 citations in OpenAlex.
- Review
- Gut bacterial metabolite imidazole propionate potentiates Alzheimer's disease pathology.Nature communications · 2026Article
- Alzheimer's Disease and Frontotemporal Dementia: A Review of Pathophysiology and Therapeutic Approaches.Journal of neuroscience research · 2025Review
- Lineage-specific splicing regulation of MAPT gene in the primate brain.Cell genomics · 2024Article
- Alternative splicing in neurodegenerative disease and the promise of RNA therapies.Nature reviews. Neuroscience · 2023Review
- Review
- Tau Isoforms: Gaining Insight intoInternational journal of molecular sciences · 2022Review
- Dysregulated coordination of MAPT exon 2 and exon 10 splicing underlies different tau pathologies in PSP and AD.Acta neuropathologica · 2022Article
- Identification of HnRNPC as a novel Tau exon 10 splicing factor using RNA antisense purification mass spectrometry.RNA biology · 2022Article
- HnRNPA1 interacts with G-quadruplex in the TRA2B promoter and stimulates its transcription in human colon cancer cells.Scientific reports · 2019Article
- The RNA encoding the microtubule-associated protein tau has extensive structure that affects its biology.PloS one · 2019Article
- Retiring the term FTDP-17 as MAPT mutations are genetic forms of sporadic frontotemporal tauopathies.Brain : a journal of neurology · 2018Article
- The Arabidopsis SR45 Splicing Factor, a Negative Regulator of Sugar Signaling, Modulates SNF1-Related Protein Kinase 1 Stability.The Plant cell · 2016Article
- Tau mis-splicing in the pathogenesis of neurodegenerative disorders.BMB reports · 2016Review
- Nuclear protein kinase CLK1 uses a non-traditional docking mechanism to select physiological substrates.The Biochemical journal · 2015Article
- Intra-domain Cross-talk Regulates Serine-arginine Protein Kinase 1-dependent Phosphorylation and Splicing Function of Transformer 2β1.The Journal of biological chemistry · 2015Article
- Article
- Article
- Identification by high-throughput imaging of the histone methyltransferase EHMT2 as an epigenetic regulator of VEGFA alternative splicing.Nucleic acids research · 2014Article
- Regulation of alternative splicing of tau exon 10.Neuroscience bulletin · 2014Review
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Authors and funding
7 authors at 2 institutions in 2 countries.
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Abstract
Mutations in the human tau gene leading to aberrant splicing have been identified in FTDP-17, an autosomal dominant hereditary neurodegenerative disorder. Molecular mechanisms by which such mutations cause tau aberrant splicing were not understood. We characterized two mutations in exon 10 of the tau gene, N279K and Del280K. Our results revealed an exonic splicing enhancer element located in exon 10. The activity of this AG-rich splicing enhancer was altered by N279K and Del280K mutations. This exonic enhancer element interacts with human Tra2 beta protein. The interaction between Tra2 beta and the exonic splicing enhancer correlates with the activity of this enhancer element in stimulating splicing. Biochemical studies including in vitro splicing and RNA interference experiments in transfected cells support a role for Tra2 beta protein in regulating alternative splicing of human tau gene. Our results implicate the human tau gene as a target gene for the alternative splicing regulator Tra2 beta, suggesting that Tra2 beta may play a role in aberrant tau exon 10 alternative splicing and in the pathogenesis of tauopathies.
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