ArticleMolecular and cellular biology1990
Effect of 5' splice site mutations on splicing of the preceding intron.
Article in Molecular and cellular biology, 1990. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 102 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
102 citing papers in PubMed.
- Omics-based dissection of alternative splicing and the regulatory architecture in fungal genomes.Current research in microbial sciences · 2026Review
- Emerging and re-emerging themes in co-transcriptional pre-mRNA splicing.Molecular cell · 2024Review
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- Intronization Signatures in Coding Exons Reveal the Evolutionary Fluidity of Eukaryotic Gene Architecture.Microorganisms · 2022Article
- Last Nucleotide Substitutions ofKidney international reports · 2022Article
- Enriched Alternative Splicing in Islets of Diabetes-Susceptible Mice.International journal of molecular sciences · 2021Article
- Compound heterozygous splicing CDON variants result in isolated ocular coloboma.Clinical genetics · 2020Article
- Article
- Expression Changes Confirm Genomic Variants Predicted to Result in Allele-Specific, Alternative mRNA Splicing.Frontiers in genetics · 2020Article
- Article
- Characterization of3 Biotech · 2018Article
- Microinjection of CRISPR/Cas9 Protein into Channel Catfish, Ictalurus punctatus, Embryos for Gene Editing.Journal of visualized experiments : JoVE · 2018Article
- Widespread intra-dependencies in the removal of introns from human transcripts.Nucleic acids research · 2017Article
- Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects.Journal of molecular and cellular cardiology · 2017Article
- Donor splice-site mutation in CUL4B is likely cause of X-linked intellectual disability.American journal of medical genetics. Part A · 2014Article
- Splice site and Germline variations of the MGMT gene in Esophageal cancer from Kashmir Valley: India.International journal of health sciences · 2013Article
- A simple model to explain evolutionary trends of eukaryotic gene architecture and expression: how competition between splicing and cleavage/polyadenylation factors may affect gene expression and splice-site recognition in eukaryotes.BioEssays : news and reviews in molecular, cellular and developmental biology · 2013Review
- Generation and analysis of the expressed sequence tags from the mycelium of Ganoderma lucidum.PloS one · 2013Article
- Mutations in the CHD7 gene: the experience of a commercial laboratory.Genetic testing and molecular biomarkers · 2010Article
- Functional coupling of last-intron splicing and 3'-end processing to transcription in vitro: the poly(A) signal couples to splicing before committing to cleavage.Molecular and cellular biology · 2008Article
42 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors.
Funding
Abstract
Three exon constructs containing identical intron and exon sequences were mutated at the 5' splice site beginning intron 2 and assayed for the effect of the mutation on splicing of the upstream intron in vitro. Alteration of two or six bases within the 5' splice site reduced removal of intron 1 at least 20-fold, as determined by quantitation of either spliced product or released lariat RNA. The prominent product was skip splicing of exon 1 to exon 3. Examination of complex formation indicated that mutation of the 5' splice site terminating exon 2 depressed the ability of precursor RNAs containing just the affected exon to direct assembly in vitro. These results suggest that mutation at the end of an internal exon inhibits the ability of the exon to be recognized by splicing factors. A comparison of the known vertebrate 5' splice site mutations in which the mutation resides at the end of an internal exon indicated that exon skipping is the preferred phenotype for this type of mutation, in agreement with the in vitro observation reported here. Inhibition of splicing by mutation at the distal and of the exon supports the suggestion that exons, rather than splice sites, are the recognition units for assembly of the spliceosome.
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