ArticleNucleic acids research2007
SR protein-mediated inhibition of CFTR exon 9 inclusion: molecular characterization of the intronic splicing silencer.
Article in Nucleic acids research, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 37 papers.
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Who cites it
37 citing papers in PubMed, 55 citations in OpenAlex.
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- Splicing factor Srsf5 deletion disrupts alternative splicing and causes noncompaction of ventricular myocardium.iScience · 2021Article
- Disruption of splicing-regulatory elements using CRISPR/Cas9 to rescue spinal muscular atrophy in human iPSCs and mice.National science review · 2020Article
- Allele specific repair of splicing mutations in cystic fibrosis through AsCas12a genome editing.Nature communications · 2019Article
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- Splicing of long non-coding RNAs primarily depends on polypyrimidine tract and 5' splice-site sequences due to weak interactions with SR proteins.Nucleic acids research · 2019Article
- Aberrant Inclusion of a Poison Exon Causes Dravet Syndrome and Related SCN1A-Associated Genetic Epilepsies.American journal of human genetics · 2018Article
- Mice with endogenous TDP-43 mutations exhibit gain of splicing function and characteristics of amyotrophic lateral sclerosis.The EMBO journal · 2018Article
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- Association of polymorphisms in genes of factors involved in regulation of splicing of cystic fibrosis transmembrane conductance regulator mRNA with acute respiratory distress syndrome in children with pneumonia.Critical care (London, England) · 2016Article
- Intergenic Alu exonisation facilitates the evolution of tissue-specific transcript ends.Nucleic acids research · 2015Article
- Diverse regulation of 3' splice site usage.Cellular and molecular life sciences : CMLS · 2015Review
- Splicing factor SRSF1 negatively regulates alternative splicing of MDM2 under damage.Nucleic acids research · 2015Article
- Context-dependent control of alternative splicing by RNA-binding proteins.Nature reviews. Genetics · 2014Review
- Half pint/Puf68 is required for negative regulation of splicing by the SR splicing factor Transformer2.RNA biology · 2013Article
- Isolated pseudo-RNA-recognition motifs of SR proteins can regulate splicing using a noncanonical mode of RNA recognition.Proceedings of the National Academy of Sciences of the United States of America · 2013Article
- Genome-wide analysis reveals SR protein cooperation and competition in regulated splicing.Molecular cell · 2013Article
- Article
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4 authors at 1 institution in 1 country.
Funding
Abstract
The intronic splicing silencer (ISS) of CFTR exon 9 promotes exclusion of this exon from the mature mRNA. This negative influence has important consequences with regards to human pathologic events, as lack of exon 9 correlates well with the occurrence of monosymptomatic and full forms of CF disease. We have previously shown that the ISS element interacts with members of the SR protein family. In this work, we now provide the identification of SF2/ASF and SRp40 as the specific SR proteins binding to this element and map their precise binding sites in IVS9. We have also performed a functional analysis of the ISS element using a variety of unrelated SR-binding sequences and different splicing systems. Our results suggest that SR proteins mediate CFTR exon 9 exclusion by providing a 'decoy' sequence in the vicinity of its suboptimal donor site. The results of this study give an insight on intron 'exonization' mechanisms and provide useful indications for the development of novel therapeutic strategies aimed at the recovery of exon inclusion.
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