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 (586 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
A terminal section of a chromosome which has a specialized structure and which is involved in chromosomal replication and stability. Its length is believed to be a few hundred base pairs.
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: Telomeres.
Where it fits in the MeSH classification
- Broader topics
- Chromosome Structures
- Narrower topics
- Shelterin Complex
Research landscape
PubMed indexes 20,645 records tagged with the MeSH heading “Telomere” (counts retrieved 2026-10-29). 4,822 of them (23.4%) were published from 2020 onward, and the busiest period so far is 2010-2019 with 7,443 records.
Reviews account for 3,391 records (16.4%) and meta-analyses for 145. Randomized controlled trials number 99 (0.5%) 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 | 1,939 |
| 2000-2009 | 6,441 |
| 2010-2019 | 7,443 |
| 2020 onward | 4,822 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 3,391 | 16.4% |
| Meta-analyses | 145 | 0.7% |
| Randomized controlled trials | 99 | 0.5% |
Method: PubMed query "Telomere"[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 |
|---|---|---|---|---|
| Telomere attrition becomes an instrument for clonal selection in aging hematopoiesis and leukemogenesis | 2025 | Research article Design not recorded in structured metadata | 24 | cc by PMID 40877435 · DOI · PMC12425810 |
| Epigenetic and evolutionary features of ape subterminal heterochromatin | 2026 | Research article Design not recorded in structured metadata | 10 | cc by PMID 41125445 · DOI · PMC12758386 |
| Large-scale drug sensitivity, gene dependency, and proteogenomic analyses of telomere maintenance mechanisms in cancer cells | 2025 | Research article Design not recorded in structured metadata | 8 | cc by PMID 41436729 · DOI · PMC12727880 |
Telomere attrition becomes an instrument for clonal selection in aging hematopoiesis and leukemogenesis [1]
Abstract reading summary — source excerpts
- Opening excerpt
- The mechanisms through which mutations in splicing factor genes drive clonal hematopoiesis (CH) and myeloid malignancies, and their close association with advanced age, remain poorly understood.
- Closing excerpt
- Understanding the mechanistic basis of these observations can open new therapeutic avenues against splicing-factor-mutant CH and hematological or other cancers.
- 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)
The mechanisms through which mutations in splicing factor genes drive clonal hematopoiesis (CH) and myeloid malignancies, and their close association with advanced age, remain poorly understood. Here we show that telomere maintenance plays an important role in this phenomenon. First, by studying 454,098 UK Biobank participants, we find that, unlike most CH subtypes, splicing-factor-mutant CH is more common in those with shorter genetically predicted telomeres, as is CH with mutations in PPM1D and the TERT gene promoter. We go on to show that telomere attrition becomes an instrument for clonal selection in advanced age, with splicing factor mutations 'rescuing' HSCs from critical telomere shortening. Our findings expose the lifelong influence of telomere maintenance on hematopoiesis and identify a potential shared mechanism through which different splicing factor mutations drive leukemogenesis. Understanding the mechanistic basis of these observations can open new therapeutic avenues against splicing-factor-mutant CH and hematological or other cancers.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 40877435 · DOI · PMC12425810
Epigenetic and evolutionary features of ape subterminal heterochromatin [2]
Abstract reading summary — source excerpts
- Opening excerpt
- Many African great ape chromosomes possess large subterminal heterochromatic caps at their telomeres that are conspicuously absent from the human lineage.
- Closing excerpt
- Our findings suggest independent evolution of subterminal caps converging on a common genetic and epigenetic structure that promoted ectopic exchange as well as the emergence of novel genes at transition regions between euchromatin and heterochromatin.
- 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 (257 words)
Many African great ape chromosomes possess large subterminal heterochromatic caps at their telomeres that are conspicuously absent from the human lineage. Leveraging the complete sequences of great ape genomes, we characterize the organization of subterminal caps and reconstruct the evolutionary history of these regions in chimpanzees and gorillas. Detailed analyses of the composition of the associated terminal 32 bp satellite array from chimpanzee (termed pCht) and intervening segmental duplication (SD) spacers confirm two independent origins in the Pan and gorilla lineages. In chimpanzee and bonobo, we estimate these structures emerged ∼7.7 million years ago (MYA) in contrast to gorilla, in which they expanded more recently, ∼5.0 MYA, and now make up 8.5% of the total gorilla genome. In both lineages, the SD spacers punctuating the pCht heterochromatic satellite arrays correspond to pockets of decreased methylation, although in gorilla such regions are significantly less methylated (P -16) than in chimpanzee or bonobo. Allelic pairs of subterminal caps show a higher degree of sequence divergence than euchromatic sequences, with bonobo showing less divergent haplotypes and less differentially methylated spacers. In contrast, we identify virtually identical subterminal caps mapping to nonhomologous chromosomes within a species, suggesting ectopic recombination potentially mediated by SD spacers. We find that the transition regions from heterochromatic subterminal caps to euchromatin are enriched for structural variant insertions and lineage-specific duplicated genes. Our findings suggest independent evolution of subterminal caps converging on a common genetic and epigenetic structure that promoted ectopic exchange as well as the emergence of novel genes at transition regions between euchromatin and heterochromatin.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 41125445 · DOI · PMC12758386
Large-scale drug sensitivity, gene dependency, and proteogenomic analyses of telomere maintenance mechanisms in cancer cells [3]
Abstract reading summary — source excerpts
- Opening excerpt
- Replicative immortality is a hallmark of cancer, driven by the activation of telomere maintenance mechanisms, that is yet to be therapeutically exploited.
- Closing excerpt
- These findings illustrate opportunities for leveraging this resource to realize the potential for telomere biology-directed cancer therapeutics and companion diagnostics.
- 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 (180 words)
Replicative immortality is a hallmark of cancer, driven by the activation of telomere maintenance mechanisms, that is yet to be therapeutically exploited. To expedite discoveries that will enable the development of therapeutics that target telomere maintenance mechanisms, this study provides a resource of telomere biology metrics for a pan-cancer panel of 976 cell lines. We generate proteomic data from data-independent-acquisition mass spectrometry for most of these cell lines and integrate pre-existing multi-omic, drug sensitivity, and molecular dependency data from CRISPR/Cas9 knock-out screens. The data illustrate a broad range and heterogeneity in telomere biology, including states that diverge from the binary model of telomere maintenance activation involving either telomerase or the Alternative Lengthening of Telomeres mechanism. Using the telomere biology metrics and multi-omic data, we derive proteomic and transcriptomic predictors of Alternative Lengthening of Telomeres and telomerase activity levels. Our investigations also reveal molecular vulnerabilities associated with the Alternative Lengthening of Telomeres mechanism and drug sensitivity correlating with telomerase activity levels. These findings illustrate opportunities for leveraging this resource to realize the potential for telomere biology-directed cancer therapeutics and companion diagnostics.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 41436729 · DOI · PMC12727880
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 Cellular senescence in ageing: from mechanisms to therapeutic opportunities [4]
- Research article Telomeres and telomerase: three decades of progress [5]
- Research article Telomere dysfunction in ageing and age-related diseases [6]
- Research article Telomeres: history, health, and hallmarks of aging [7]
- Research article Gender and telomere length: systematic review and meta-analysis [8]
- Research article The association of telomere length and cancer: a meta-analysis [9]
References
- McLoughlin MA, Cheloor Kovilakam S, Dunn WG, Gu M, Tobin J, Pershad Y, et al.. Telomere attrition becomes an instrument for clonal selection in aging hematopoiesis and leukemogenesis. . 2025. PMID 40877435 · DOI · PMC12425810
- Yoo D, Munson KM, Eichler EE. Epigenetic and evolutionary features of ape subterminal heterochromatin. . 2026. PMID 41125445 · DOI · PMC12758386
- Wu Y, Cai Z, Cross D, Noble JR, Prest K, Littleboy J, et al.. Large-scale drug sensitivity, gene dependency, and proteogenomic analyses of telomere maintenance mechanisms in cancer cells. . 2025. PMID 41436729 · DOI · PMC12727880
- Di Micco R, Krizhanovsky V, Baker D, d'Adda di Fagagna F. Cellular senescence in ageing: from mechanisms to therapeutic opportunities. Nat Rev Mol Cell Biol. 2021. PMID 33328614 · DOI · PMC8344376
- Shay JW, Wright WE. Telomeres and telomerase: three decades of progress. Nat Rev Genet. 2019. PMID 30760854 · DOI
- Rossiello F, Jurk D, Passos JF, d'Adda di Fagagna F. Telomere dysfunction in ageing and age-related diseases. Nat Cell Biol. 2022. PMID 35165420 · DOI · PMC8985209
- Chakravarti D, LaBella KA, DePinho RA. Telomeres: history, health, and hallmarks of aging. Cell. 2021. PMID 33450206 · DOI · PMC8081271
- Gardner M, Bann D, Wiley L, Cooper R, Hardy R, Nitsch D, et al.. Gender and telomere length: systematic review and meta-analysis. Exp Gerontol. 2014. PMID 24365661 · DOI · PMC4523138
- Wentzensen IM, Mirabello L, Pfeiffer RM, Savage SA. The association of telomere length and cancer: a meta-analysis. Cancer Epidemiol Biomarkers Prev. 2011. PMID 21467229 · DOI · PMC3111877
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.
See how EvidenceLib is built. Spotted an error? Email support@evidencehelix.com.
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.