ArticleNucleic acids research2015
Splicing of many human genes involves sites embedded within introns.
Article in Nucleic acids research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
What it found
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Who cites it
24 citing papers in PubMed, 44 citations in OpenAlex.
- Variant U1 snRNAs contribute to cell cycle and differentiation control of human iPS cells.Nature communications · 2026Article
- Association of single nucleotide polymorphisms in FILIP1-SENP6 and FTO with temporomandibular joint osteoarthritis: clinical and in silico study.Scientific reports · 2026Article
- Recursive splicing-a mechanism of intron removal with an unexplored role in the largest genomes.Journal of molecular evolution · 2025Review
- Global dysregulation of circular RNAs in frontal cortex and whole blood from DM1 and DM2.Human genetics · 2025Article
- Genes divided according to the relative position of the longest intron show increased representation in different KEGG pathways.BMC genomics · 2024Article
- The unusual gene architecture of polyubiquitin is created by dual-specific splice sites.Genome biology · 2024Article
- Recursive splicing discovery using lariats in total RNA sequencing.Life science alliance · 2023Article
- Piwi/piRNAs control food intake by promoting neuropeptide F expression in locusts.EMBO reports · 2022Article
- Recursive splicing is a rare event in the mouse brain.PloS one · 2022Article
- An Intronic Variant of CHD7 Identified in Autism Patients Interferes with Neuronal Differentiation and Development.Neuroscience bulletin · 2021Article
- The Exon Junction Complex Core Represses Cancer-Specific Mature mRNA Re-splicing: A Potential Key Role in Terminating Splicing.International journal of molecular sciences · 2021Article
- Article
- A Mechanism Leading to Changes in Copy Number Variations Affected by Transcriptional Level Might Be Involved in Evolution, Embryonic Development, Senescence, and Oncogenesis Mediated by Retrotransposons.Frontiers in cell and developmental biology · 2021Article
- Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.Frontiers in genetics · 2021Article
- The temporal landscape of recursive splicing during Pol II transcription elongation in human cells.PLoS genetics · 2018Article
- Short cryptic exons mediate recursive splicing in Drosophila.Nature structural & molecular biology · 2018Article
- Dystrophin Dp71 Isoforms Are Differentially Expressed in the Mouse Brain and Retina: Report of New Alternative Splicing and a Novel Nomenclature for Dp71 Isoforms.Molecular neurobiology · 2018Article
- Alternative mRNA processing sites decrease genetic variability while increasing functional diversity.Transcription · 2018Review
- The determinants of alternative RNA splicing in human cells.Molecular genetics and genomics : MGG · 2017Review
- Deep intronic mutations and human disease.Human genetics · 2017Review
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
Abstract
The conventional model for splicing involves excision of each intron in one piece; we demonstrate this inaccurately describes splicing in many human genes. First, after switching on transcription of SAMD4A, a gene with a 134 kb-long first intron, splicing joins the 3' end of exon 1 to successive points within intron 1 well before the acceptor site at exon 2 is made. Second, genome-wide analysis shows that >60% of active genes yield products generated by such intermediate intron splicing. These products are present at ∼15% the levels of primary transcripts, are encoded by conserved sequences similar to those found at canonical acceptors, and marked by distinctive structural and epigenetic features. Finally, using targeted genome editing, we demonstrate that inhibiting the formation of these splicing intermediates affects efficient exon-exon splicing. These findings greatly expand the functional and regulatory complexity of the human transcriptome.
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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.