ArticleThe EMBO journal2010
The intronic splicing code: multiple factors involved in ATM pseudoexon definition.
Article in The EMBO journal, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed.
- Article
- A Deep Intronic Variant Activates a Pseudoexon in theMolecular syndromology · 2020Article
- Alternative splicing of U2AF1 reveals a shared repression mechanism for duplicated exons.Nucleic acids research · 2017Article
- Lessons from non-canonical splicing.Nature reviews. Genetics · 2016Review
- A conserved intronic U1 snRNP-binding sequence promotes trans-splicing in Drosophila.Genes & development · 2015Article
- A novel splicing silencer generated by DMD exon 45 deletion junction could explain upstream exon 44 skipping that modifies dystrophinopathy.Journal of human genetics · 2014Article
- A day in the life of the spliceosome.Nature reviews. Molecular cell biology · 2014Review
- HnRNPH1/H2, U1 snRNP, and U11 snRNP cooperate to regulate the stability of the U11-48K pre-mRNA.RNA (New York, N.Y.) · 2013Article
- Role of pseudoexons and pseudointrons in human cancer.International journal of cell biology · 2013Review
- RNA splicing: a new player in the DNA damage response.International journal of cell biology · 2013Review
- Upon the tightrope in prostate cancer: two acrobats on the same tightrope to cross the finishline.Molecular and cellular biochemistry · 2012Review
- Categorization of 77 dystrophin exons into 5 groups by a decision tree using indexes of splicing regulatory factors as decision markers.BMC genetics · 2012Article
- G Run-mediated recognition of proteolipid protein and DM20 5' splice sites by U1 small nuclear RNA is regulated by context and proximity to the splice site.The Journal of biological chemistry · 2011Article
- Interaction of hnRNPA1/A2 and DAZAP1 with an Alu-derived intronic splicing enhancer regulates ATM aberrant splicing.PloS one · 2011Article
- Alternative splicing in spinal muscular atrophy underscores the role of an intron definition model.RNA biologyArticle
Corrections and comments
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Authors and funding
5 authors.
Funding
Abstract
Abundance of pseudo splice sites in introns can potentially give rise to innumerable pseudoexons, outnumbering the real ones. Nonetheless, these are efficiently ignored by the splicing machinery, a process yet to be understood completely. Although numerous 5' splice site-like sequences functioning as splicing silencers have been found to be enriched in predicted human pseudoexons, the lack of active pseudoexons pose a fundamental challenge to how these U1snRNP-binding sites function in splicing inhibition. Here, we address this issue by focusing on a previously described pathological ATM pseudoexon whose inhibition is mediated by U1snRNP binding at intronic splicing processing element (ISPE), composed of a consensus donor splice site. Spliceosomal complex assembly demonstrates inefficient A complex formation when ISPE is intact, implying U1snRNP-mediated unproductive U2snRNP recruitment. Furthermore, interaction of SF2/ASF with its motif seems to be dependent on RNA structure and U1snRNP interaction. Our results suggest a complex combinatorial interplay of RNA structure and trans-acting factors in determining the splicing outcome and contribute to understanding the intronic splicing code for the ATM pseudoexon.
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