ArticleNucleic acids research2012
Splicing of internal large exons is defined by novel cis-acting sequence elements.
Article in Nucleic acids research, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 21 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
21 citing papers in PubMed.
- Assembly of exon junction complexes on spliceosomes begins before spliceosome activation.Nucleic acids research · 2026Article
- A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved.Human genetics · 2026Article
- Coordinating mRNA maturation: The U1 relay model.Molecular cell · 2026Review
- Evolutionarily Developed Alternatively Spliced Exons Containing Translation Initiation Sites.Cells · 2024Article
- Exon-intron boundary inhibits mNature communications · 2023Article
- Improved analysis of (e)CLIP data with RCRUNCH yields a compendium of RNA-binding protein binding sites and motifs.Genome biology · 2023Article
- Exon Elongation Added Intrinsically Disordered Regions to the Encoded Proteins and Facilitated the Emergence of the Last Eukaryotic Common Ancestor.Molecular biology and evolution · 2023Article
- Sensory neuron transcriptomes reveal complex neuron-specific function and regulation of mec-2/Stomatin splicing.Nucleic acids research · 2022Article
- Fusion transcripts and their genomic breakpoints in polyadenylated and ribosomal RNA-minus RNA sequencing data.GigaScience · 2021Article
- Regulated splicing of large exons is linked to phase-separation of vertebrate transcription factors.The EMBO journal · 2021Article
- Article
- An RNA Switch of a Large Exon of Ninein Is Regulated by the Neural Stem Cell Specific-RNA Binding Protein, Qki5.International journal of molecular sciences · 2019Article
- Dual function of C/D box small nucleolar RNAs in rRNA modification and alternative pre-mRNA splicing.Proceedings of the National Academy of Sciences of the United States of America · 2016Article
- Neuronal SH-SY5Y cells use the C-dystrophin promoter coupled with exon 78 skipping and display multiple patterns of alternative splicing including two intronic insertion events.Human genetics · 2015Article
- Potential Gene Interactions in the Cell Cycles of Gametes, Zygotes, Embryonic Stem Cells and the Development of Cancer.Frontiers in oncology · 2015Review
- A conserved interaction that is essential for the biogenesis of histone locus bodies.The Journal of biological chemistry · 2014Article
- A mutation in a splicing factor that causes retinitis pigmentosa has a transcriptome-wide effect on mRNA splicing.BMC research notes · 2014Article
- Genome reference and sequence variation in the large repetitive central exon of human MUC5AC.American journal of respiratory cell and molecular biology · 2014Article
- Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.F1000Research · 2014Review
- DNA conformational transitions induced by supercoiling control transcription in chromatin.Gene regulation and systems biology · 2014Review
Corrections and comments
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Authors and funding
2 authors.
Funding
Abstract
Human internal exons have an average size of 147 nt, and most are <300 nt. This small size is thought to facilitate exon definition. A small number of large internal exons have been identified and shown to be alternatively spliced. We identified 1115 internal exons >1000 nt in the human genome; these were found in 5% of all protein-coding genes, and most were expressed and translated. Surprisingly, 40% of these were expressed at levels similar to the flanking exons, suggesting they were constitutively spliced. While all of the large exons had strong splice sites, the constitutively spliced large exons had a higher ratio of splicing enhancers/silencers and were more conserved across mammals than the alternatively spliced large exons. We asked if large exons contain specific sequences that promote splicing and identified 38 sequences enriched in the large exons relative to small exons. The consensus sequence is C-rich with a central invariant CA dinucleotide. Mutation of these sequences in a candidate large exon indicated that these are important for recognition of large exons by the splicing machinery. We propose that these sequences are large exon splicing enhancers (LESEs).
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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.