ArticleNucleic acids research2009
An Alu-derived intronic splicing enhancer facilitates intronic processing and modulates aberrant splicing in ATM.
Article in Nucleic acids research, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 24 citations in OpenAlex.
- Associations of genome-wide structural variations with phenotypic differences in cross-bred Eurasian pigs.Journal of animal science and biotechnology · 2023Article
- Alu RNA and their roles in human disease states.RNA biology · 2021Article
- Transcriptome protection by the expanded family of hnRNPs.RNA biology · 2019Review
- RNA Editing and Retrotransposons in Neurology.Frontiers in molecular neuroscience · 2018Review
- Staufen1 Regulates Multiple Alternative Splicing Events either Positively or Negatively in DM1 Indicating Its Role as a Disease Modifier.PLoS genetics · 2016Article
- New interaction partners for Nek4.1 and Nek4.2 isoforms: from the DNA damage response to RNA splicing.Proteome science · 2015Article
- Novel kinin B₁ receptor splice variant and 5'UTR regulatory elements are responsible for cell specific B₁ receptor expression.PloS one · 2014Article
- Motifs within the CA-repeat-rich region of Surfactant Protein B (SFTPB) intron 4 differentially affect mRNA splicing.Journal of molecular biochemistry · 2013Article
- RNA splicing: a new player in the DNA damage response.International journal of cell biology · 2013Review
- DNA hypermethylation of alternatively spliced and repeat sequences in humans.Molecular genetics and genomics : MGG · 2012Article
- Upon the tightrope in prostate cancer: two acrobats on the same tightrope to cross the finishline.Molecular and cellular biochemistry · 2012Review
- Interaction of hnRNPA1/A2 and DAZAP1 with an Alu-derived intronic splicing enhancer regulates ATM aberrant splicing.PloS one · 2011Article
- The intronic splicing code: multiple factors involved in ATM pseudoexon definition.The EMBO journal · 2010Article
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
We have previously reported a natural GTAA deletion within an intronic splicing processing element (ISPE) of the ataxia telangiectasia mutated (ATM) gene that disrupts a non-canonical U1 snRNP interaction and activates the excision of the upstream portion of the intron. The resulting pre-mRNA splicing intermediate is then processed to a cryptic exon, whose aberrant inclusion in the final mRNA is responsible for ataxia telangiectasia. We show here that the last 40 bases of a downstream intronic antisense Alu repeat are required for the activation of the cryptic exon by the ISPE deletion. Evaluation of the pre-mRNA splicing intermediate by a hybrid minigene assay indicates that the identified intronic splicing enhancer represents a novel class of enhancers that facilitates processing of splicing intermediates possibly by recruiting U1 snRNP to defective donor sites. In the absence of this element, the splicing intermediate accumulates and is not further processed to generate the cryptic exon. Our results indicate that Alu-derived sequences can provide intronic splicing regulatory elements that facilitate pre-mRNA processing and potentially affect the severity of disease-causing splicing mutations.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.