Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 3 complete abstracts (518 words), 9 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
The ultimate exclusion of nonsense sequences or intervening sequences (introns) before the final RNA transcript is sent to the cytoplasm.
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Splicing, RNA; RNA Splicings; Splicings, RNA; RNA, Messenger, Splicing.
Where it fits in the MeSH classification
- Broader topics
- RNA Processing, Post-Transcriptional
- Narrower topics
- Alternative Splicing; Trans-Splicing
- See also
- RNA Precursors; Spliceosomes; RNA Cleavage
Research landscape
PubMed indexes 47,245 records tagged with the MeSH heading “RNA Splicing” (counts retrieved 2026-10-29). 8,108 of them (17.2%) were published from 2020 onward, and the busiest period so far is 2000-2009 with 14,037 records.
Reviews account for 4,903 records (10.4%) and meta-analyses for 40. Randomized controlled trials number 24 (0.1%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.
Show the data
| Period | Records |
|---|---|
| through 1999 | 11,254 |
| 2000-2009 | 14,037 |
| 2010-2019 | 13,846 |
| 2020 onward | 8,108 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 4,903 | 10.4% |
| Meta-analyses | 40 | 0.1% |
| Randomized controlled trials | 24 | 0.1% |
Method: PubMed query "RNA Splicing"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-29.
Reading the evidence in molecular biology
Molecular biology establishes mechanisms through controlled experiments, often in simplified systems such as purified proteins, cultured cells or model organisms. Such work can show what is possible in a defined system, but whether a pathway matters in a whole organism or in human disease needs further evidence. Check the experimental system, whether findings were reproduced by independent groups, and whether the authors tested the mechanism directly or inferred it from correlation.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
| Study / authors | Year | Source label / design | Europe PMC citations | Licence / source |
|---|---|---|---|---|
| CDK7-CDK11 axis in spliceosome regulation and pre-mRNA splicing | 2025 | Research article Design not recorded in structured metadata | 9 | cc by PMID 41428738 · DOI · PMC12721332 |
| Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities | 2025 | Review article Design not recorded in structured metadata | 7 | cc by PMID 41301541 · DOI · PMC12650716 |
| Generative modeling for RNA splicing prediction and design | 2026 | Research article Design not recorded in structured metadata | 6 | cc by PMID 42213808 · DOI · PMC13221180 |
CDK7-CDK11 axis in spliceosome regulation and pre-mRNA splicing [1]
Abstract reading summary — source excerpts
- Opening excerpt
- Cyclin-dependent kinase 11 (CDK11) is essential for the regulation of pre-mRNA splicing via phosphorylation of the core spliceosome component SF3B1.
- Closing excerpt
- The identification of additional CDK11 substrates points to its broader role in spliceosome regulation.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (200 words)
Cyclin-dependent kinase 11 (CDK11) is essential for the regulation of pre-mRNA splicing via phosphorylation of the core spliceosome component SF3B1. This phosphorylation is a marker of the catalytically active spliceosomes; thus, it is important to identify the mechanisms that regulate CDK11 itself. Here, we report that a small subset of CDK11 is phosphorylated on the activation T-loop threonine 595 (Thr595) and is associated with the activated spliceosome on chromatin in gene bodies. Mutational analyses revealed that Thr595 is essential for the formation of the active CDK11 complex with cyclin L and SAP30BP. CDK11 transiently associates with CDK7, a transcriptional kinase that also promotes the activation of other CDKs. Inhibition of CDK7 initially decreases transcription, but longer durations of inhibition lead to production of unspliced pre-mRNAs. The onset of the CDK7-mediated splicing defect correlates with the sequential dephosphorylation of CDK11 Thr595 and SF3B1. SILAC-based phosphoproteomics upon brief CDK11 inhibition identified SF3B1, CDC5L, and ESS2 as CDK11 substrates, which overlap with the previously identified CDK7 substrates in the spliceosome. In summary, our study suggests that CDK7 likely acts via CDK11 Thr595 phosphorylation to regulate pre-mRNA splicing in cells. The identification of additional CDK11 substrates points to its broader role in spliceosome regulation.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 41428738 · DOI · PMC12721332
Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities [2]
Abstract reading summary — source excerpts
- Opening excerpt
- Retinitis pigmentosa (RP) represents a genetically heterogeneous group of inherited retinal dystrophies characterized by progressive photoreceptor degeneration and irreversible vision loss.
- Closing excerpt
- Finally, we highlight key research gaps and propose future directions for splicing-centered precision medicine in RP.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (164 words)
Retinitis pigmentosa (RP) represents a genetically heterogeneous group of inherited retinal dystrophies characterized by progressive photoreceptor degeneration and irreversible vision loss. Among the diverse pathogenic mechanisms, dysregulation of alternative splicing has emerged as a pivotal driver, particularly in RP cases caused by mutations in splicing factors or cis-regulatory elements. Alternative splicing governs transcript diversity and fine-tunes gene expression, with more than 95% of human multi-exon genes undergoing this process. Disruption of precise splicing patterns in the retina-an organ with exceptionally high transcriptional complexity-leads to widespread mis-splicing of photoreceptor-specific genes, triggering retinal dysfunction and cell death. This review synthesizes current understanding of alternative splicing-related mechanisms in RP, integrating molecular insights from splicing-factor mutations, retina-specific splice isoforms, and their downstream cellular consequences. We also evaluate therapeutic strategies targeting splicing dysregulation, including antisense oligonucleotides (ASOs), modified U1 snRNA, spliceosome-mediated RNA trans-splicing (SMaRT), and genome editing, emphasizing translational potential and clinical challenges. Finally, we highlight key research gaps and propose future directions for splicing-centered precision medicine in RP.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 41301541 · DOI · PMC12650716
Generative modeling for RNA splicing prediction and design [3]
Abstract reading summary — source excerpts
- Opening excerpt
- Alternative splicing (AS) of pre-mRNA plays a crucial role in tissue-specific gene regulation, with disease implications due to splicing defects.
- Closing excerpt
- We envision TrASPr+BOS as a light yet accurate method researchers can probe or adopt for specific tasks.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (154 words)
Alternative splicing (AS) of pre-mRNA plays a crucial role in tissue-specific gene regulation, with disease implications due to splicing defects. Predicting and manipulating AS can therefore uncover new regulatory mechanisms and aid in therapeutic design. We introduce TrASPr+BOS, a generative AI model with Bayesian Optimization for predicting and designing RNA for tissue-specific splicing outcomes. Transformer for Alternative Splicing Prediction (TrASPr) is a multi-transformer model that can handle different types of AS events and generalize to unseen cellular conditions. It then serves as an oracle, generating labeled data to train a Bayesian Optimization for Splicing (BOS) algorithm to design RNA for condition-specific splicing outcomes. We show TrASPr+BOS outperforms existing methods, enhancing tissue-specific AUPRC by up to 1.8-fold and capturing tissue-specific regulatory elements. We validate hundreds of predicted novel tissue-specific splicing variations and confirm new regulatory elements using dCas13. We envision TrASPr+BOS as a light yet accurate method researchers can probe or adopt for specific tasks.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 42213808 · DOI · PMC13221180
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article Roles and mechanisms of alternative splicing in cancer - implications for care [4]
- Research article RNA splicing dysregulation and the hallmarks of cancer [5]
- Research article The physiology of alternative splicing [6]
- Research article Alternative splicing and cancer: a systematic review [7]
- Research article Alternative splicing as a source of phenotypic diversity [8]
- Research article rMATS-turbo: an efficient and flexible computational tool for alternative splicing analysis of large-scale RNA-seq data [9]
References
- Rájecký M, Gajdušková P, Maník P, Hluchý M, Hegedűsová E, Kryštofová K, et al.. CDK7-CDK11 axis in spliceosome regulation and pre-mRNA splicing. . 2025. PMID 41428738 · DOI · PMC12721332
- Jiang Y, Liu X, Fu J, Wu Y, Yu S, Yao K. Alternative Splicing Dysregulation in Retinitis Pigmentosa: Pathogenic Mechanisms and Therapeutic Opportunities. . 2025. PMID 41301541 · DOI · PMC12650716
- Wu D, Maus N, Jha A, Yang K, Wales-McGrath BD, Jewell S, et al.. Generative modeling for RNA splicing prediction and design. . 2026. PMID 42213808 · DOI · PMC13221180
- Bonnal SC, López-Oreja I, Valcárcel J. Roles and mechanisms of alternative splicing in cancer - implications for care. Nat Rev Clin Oncol. 2020. PMID 32303702 · DOI
- Bradley RK, Anczuków O. RNA splicing dysregulation and the hallmarks of cancer. Nat Rev Cancer. 2023. PMID 36627445 · DOI · PMC10132032
- Marasco LE, Kornblihtt AR. The physiology of alternative splicing. Nat Rev Mol Cell Biol. 2023. PMID 36229538 · DOI
- Zhang Y, Qian J, Gu C, Yang Y. Alternative splicing and cancer: a systematic review. Signal Transduct Target Ther. 2021. PMID 33623018 · DOI · PMC7902610
- Wright CJ, Smith CWJ, Jiggins CD. Alternative splicing as a source of phenotypic diversity. Nat Rev Genet. 2022. PMID 35821097 · DOI
- Wang Y, Xie Z, Kutschera E, Adams JI, Kadash-Edmondson KE, Xing Y. rMATS-turbo: an efficient and flexible computational tool for alternative splicing analysis of large-scale RNA-seq data. Nat Protoc. 2024. PMID 38396040 · DOI
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-10-31; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-10-29.
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Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.