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 (489 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
Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.
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: Regulation, Gene Action; Gene Action Regulation; Expression Regulation, Gene; Regulation, Gene Expression; Regulation of Gene Expression.
Where it fits in the MeSH classification
- Broader topics
- Genetic Phenomena
- Narrower topics
- Catabolite Repression; Chromatin Assembly and Disassembly; Down-Regulation; Ectopic Gene Expression; Epigenesis, Genetic; Epistasis, Genetic; Frameshifting, Ribosomal; Gene Amplification; Gene Expression Regulation, Archaeal; Gene Expression Regulation, Bacterial; Gene Expression Regulation, Developmental; Gene Expression Regulation, Enzymologic; Gene Expression Regulation, Fungal; Gene Expression Regulation, Neoplastic
- See also
- Cell Differentiation; Chromosomal Proteins, Non-Histone; Transcription Factors; Trans-Activators
Research landscape
PubMed indexes 1,268,367 records tagged with the MeSH heading “Gene Expression Regulation” (counts retrieved 2026-10-29). 273,410 of them (21.6%) were published from 2020 onward, and the busiest period so far is 2010-2019 with 519,785 records.
Reviews account for 134,851 records (10.6%) and meta-analyses for 2,424. Randomized controlled trials number 3,342 (0.3%) 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 | 162,927 |
| 2000-2009 | 312,245 |
| 2010-2019 | 519,785 |
| 2020 onward | 273,410 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 134,851 | 10.6% |
| Meta-analyses | 2,424 | 0.2% |
| Randomized controlled trials | 3,342 | 0.3% |
Method: PubMed query "Gene Expression Regulation"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-29.
Reading the evidence in genetics and genomics
Genetic findings vary widely in strength. A variant linked to a condition in one study may not replicate in other ancestries, and most common variants have small effects that are meaningful only in aggregate. Studies of rare, high-impact variants can support strong causal claims about a gene, while association studies describe statistical links that need functional and independent replication. Check the sample size, the ancestry of participants, whether results were replicated, and whether a laboratory or clinical outcome was actually measured.
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 |
|---|---|---|---|---|
| The gene-regulatory evolution of the human skeleton | 2026 | Research article Design not recorded in structured metadata | 1 | cc by PMID 42778609 · DOI · PMC13668659 |
| Alternative splicing of synaptotagmin 7 regulates oligomerization and short-term synaptic plasticity | 2026 | Research article Design not recorded in structured metadata | 1 | cc by PMID 42743279 · DOI · PMC13598225 |
| Transposon end recognition and excision mechanisms of type I-F CRISPR-associated transposases | 2026 | Research article Design not recorded in structured metadata | 1 | cc by PMID 42773127 · DOI · PMC13598128 |
The gene-regulatory evolution of the human skeleton [1]
Abstract reading summary — source excerpts
- Opening excerpt
- Skeletal modifications were central to human evolution, enabling adaptations for bipedalism, large cranial vaults and childbirth1.
- Closing excerpt
- Together, our results reveal a coordinated evolutionary remodelling of the human skeletal ECM, and establish a comprehensive framework for dissecting the genetic basis of human skeletal biology.
- 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 (194 words)
Skeletal modifications were central to human evolution, enabling adaptations for bipedalism, large cranial vaults and childbirth1. Despite their importance, the genetic changes that gave rise to the unique human form remain mostly unknown2. Here we systematically map the gene-regulatory changes that shaped human skeletal evolution. Using massively parallel reporter assays (MPRAs) in chondrocytes, we assayed 561,410 human-derived substitutions in promoters and enhancers, identifying 15,077 loci with human-specific regulatory activity. We then generated human-ape hybrid cells and differentiated them into osteochondral progenitors. Integrating the hybrid cells with MPRA measurements produced genome-wide atlases of human-specific changes in cis-regulatory expression, and the sequence variants that drive them. These atlases reveal an extensive rewiring of the extracellular matrix (ECM), including a marked suppression of glycosaminoglycan (GAG) biosynthesis, leading to an approximately three-to-fourfold reduction in joint GAG content in humans compared with non-human apes. We find that this human-specific shift bears signatures of selection, and is likely to be a key contributor to the exceptional susceptibility of humans to degenerative skeletal diseases3-5. Together, our results reveal a coordinated evolutionary remodelling of the human skeletal ECM, and establish a comprehensive framework for dissecting the genetic basis of human skeletal biology.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 42778609 · DOI · PMC13668659
Alternative splicing of synaptotagmin 7 regulates oligomerization and short-term synaptic plasticity [2]
Abstract reading summary — source excerpts
- Opening excerpt
- Synaptic plasticity is crucial for learning and memory.
- Closing excerpt
- Thus, alternative splicing might fine-tune STP by differentially impacting syt7 oligomerization.
- 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 (146 words)
Synaptic plasticity is crucial for learning and memory. The presynaptic calcium sensor synaptotagmin 7 (syt7) regulates aspects of short-term plasticity (STP), but the underlying mechanisms remain unclear. Here, we show that alternative splicing of the syt7 juxtamembrane linker acts as a molecular switch at both biochemical and functional levels. The α and β variants undergo liquid-liquid phase separation to form condensates, while the γ variant forms aggregates. Using iGluSnFR imaging, we found that, when expressed at equal levels, these three isoforms also diverge regarding their abilities to regulate two key aspects of STP: paired-pulse facilitation and synaptic depression. Stimulated emission depletion microscopy showed that all three isoforms form active zone-associated clusters that colocalize with syt1, while minimal photon flux superresolution microscopy resolved syt7 clusters within the active zone, well-positioned to directly control synaptic vesicle dynamics. Thus, alternative splicing might fine-tune STP by differentially impacting syt7 oligomerization.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 42743279 · DOI · PMC13598225
Transposon end recognition and excision mechanisms of type I-F CRISPR-associated transposases [3]
Abstract reading summary — source excerpts
- Opening excerpt
- CRISPR-associated transposons (CASTs) are Tn7-like elements that have co-opted RNA-guided CRISPR effectors for targeted DNA insertion.
- Closing excerpt
- Together, our studies highlight molecular features underlying the efficiency of natural and engineered type I-F transposases and establish a mechanistic framework for their continued rational optimization.
- 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 (149 words)
CRISPR-associated transposons (CASTs) are Tn7-like elements that have co-opted RNA-guided CRISPR effectors for targeted DNA insertion. CASTs have been adapted as genome editing tools for programmable, site-specific integration. Among them, the type I-F system from Pseudoalteromonas (PseCAST) shows exceptionally robust activity in human cells, yet its mechanistic basis remains poorly understood. Here, we present structural and biochemical analysis of the PseCAST transposase TnsAB. Biochemical reconstitution of transposon DNA excision defines key characteristics of the transposition mechanism. Cryogenic electron microscopy (cryo-EM) structures of PseTnsAB paired-end complexes reveal molecular determinants of transpososome assembly, transposon end recognition and cleavage. We validate these findings using biochemical and in vivo assays of structure-based transposase mutants, and provide mechanistic insights into the enhanced activity of a laboratory-evolved TnsAB variant. Together, our studies highlight molecular features underlying the efficiency of natural and engineered type I-F transposases and establish a mechanistic framework for their continued rational optimization.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 42773127 · DOI · PMC13598128
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 Epigenetic Signatures of Cigarette Smoking [4]
- Research article Meta-hallmarks of aging and cancer [5]
- Research article Distinctive Patterns of Transcription and RNA Processing for Human lincRNAs [6]
- Research article Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation [7]
- Research article DNA methylation in childhood asthma: an epigenome-wide meta-analysis [8]
- Research article Expression of PD-L1 and prognosis in breast cancer: a meta-analysis [9]
References
- Yan Y, Mishol N, Lange K, Zhang Z, Bodek G, Kigel A, et al.. The gene-regulatory evolution of the human skeleton. . 2026. PMID 42778609 · DOI · PMC13668659
- Mehta N, Larson DT, Wozney M, Mishra S, Subramani S, Kaur S, et al.. Alternative splicing of synaptotagmin 7 regulates oligomerization and short-term synaptic plasticity. . 2026. PMID 42743279 · DOI · PMC13598225
- Walter M, Finocchio G, Oberli S, Hammerschmid IC, Lampe GD, Karan J, et al.. Transposon end recognition and excision mechanisms of type I-F CRISPR-associated transposases. . 2026. PMID 42773127 · DOI · PMC13598128
- Joehanes R, Just AC, Marioni RE, Pilling LC, Reynolds LM, Mandaviya PR, et al.. Epigenetic Signatures of Cigarette Smoking. Circ Cardiovasc Genet. 2016. PMID 27651444 · DOI · PMC5267325
- López-Otín C, Pietrocola F, Roiz-Valle D, Galluzzi L, Kroemer G. Meta-hallmarks of aging and cancer. Cell Metab. 2023. PMID 36599298 · DOI
- Schlackow M, Nojima T, Gomes T, Dhir A, Carmo-Fonseca M, Proudfoot NJ. Distinctive Patterns of Transcription and RNA Processing for Human lincRNAs. Mol Cell. 2017. PMID 28017589 · DOI · PMC5222723
- Teumer A, Chaker L, Groeneweg S, Li Y, Di Munno C, Barbieri C, et al.. Genome-wide analyses identify a role for SLC17A4 and AADAT in thyroid hormone regulation. Nat Commun. 2018. PMID 30367059 · DOI · PMC6203810
- Xu CJ, Söderhäll C, Bustamante M, Baïz N, Gruzieva O, Gehring U, et al.. DNA methylation in childhood asthma: an epigenome-wide meta-analysis. Lancet Respir Med. 2018. PMID 29496485 · DOI
- Zhang M, Sun H, Zhao S, Wang Y, Pu H, Wang Y, et al.. Expression of PD-L1 and prognosis in breast cancer: a meta-analysis. Oncotarget. 2017. PMID 28430626 · DOI · PMC5458212
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.