ArticleNucleic acids research2018
Human RTEL1 stabilizes long G-overhangs allowing telomerase-dependent over-extension.
Article in Nucleic acids research, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
20 citing papers in PubMed, 29 citations in OpenAlex.
- Separation of telomere protection from length regulation by two different point mutations at amino acid 492 of RTEL1.Nucleic acids research · 2025Article
- Telomere function and regulation from mouse models to human ageing and disease.Nature reviews. Molecular cell biology · 2025Review
- RTEL1 is upregulated in gastric cancer and promotes tumor growth.Journal of cancer research and clinical oncology · 2024Article
- Human SKI component SKIV2L regulates telomeric DNA-RNA hybrids and prevents telomere fragility.iScience · 2024Article
- Article
- Telomouse-a mouse model with human-length telomeres generated by a single amino acid change in RTEL1.Nature communications · 2023Article
- Post-Transcriptional and Post-Translational Modifications in Telomerase Biogenesis and Recruitment to Telomeres.International journal of molecular sciences · 2023Review
- Regulator of telomere elongation helicase 1 gene and its association with malignancy.Cancer reports (Hoboken, N.J.) · 2023Review
- Molecular insight of dyskeratosis congenita: Defects in telomere length homeostasis.Journal of clinical and translational research · 2022Review
- The Intra- and Extra-Telomeric Role of TRF2 in the DNA Damage Response.International journal of molecular sciences · 2021Review
- The Cellular Functions and Molecular Mechanisms of G-Quadruplex Unwinding Helicases in Humans.Frontiers in molecular biosciences · 2021Review
- Human RTEL1 associates with Poldip3 to facilitate responses to replication stress and R-loop resolution.Genes & development · 2020Article
- Full length RTEL1 is required for the elongation of the single-stranded telomeric overhang by telomerase.Nucleic acids research · 2020Article
- SLX4 interacts with RTEL1 to prevent transcription-mediated DNA replication perturbations.Nature structural & molecular biology · 2020Article
- Article
- Review
- An Arabidopsis FANCJ helicase homologue is required for DNA crosslink repair and rDNA repeat stability.PLoS genetics · 2019Article
- Replication of G Quadruplex DNA.Genes · 2019Review
- Generation of an Rtel1-CreERT2 knock-in mouse model for lineage tracing RTEL1+ stem cells during development.Transgenic research · 2018Article
- Molecular mechanisms of telomere biology disorders.The Journal of biological chemistryReview
Corrections and comments
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Authors and funding
11 authors at 3 institutions in 3 countries.
Funding
Abstract
Telomere maintenance protects the cell against genome instability and senescence. Accelerated telomere attrition is a characteristic of premature aging syndromes including Dyskeratosis congenita (DC). Mutations in hRTEL1 are associated with a severe form of DC called Hoyeraal-Hreidarsson syndrome (HHS). HHS patients carry short telomeres and HHS cells display telomere damage. Here we investigated how hRTEL1 contributes to telomere maintenance in human primary as well as tumor cells. Transient depletion of hRTEL1 resulted in rapid telomere shortening only in the context of telomerase-positive cells with very long telomeres and high levels of telomerase. The effect of hRTEL1 on telomere length is telomerase dependent without impacting telomerase biogenesis or targeting of the enzyme to telomeres. Instead, RTEL1 depletion led to a decrease in both G-overhang content and POT1 association with telomeres with limited telomere uncapping. Strikingly, overexpression of POT1 restored telomere length but not the overhang, demonstrating that G-overhang loss is the primary defect caused by RTEL1 depletion. We propose that hRTEL1 contributes to the maintenance of long telomeres by preserving long G-overhangs, thereby facilitating POT1 binding and elongation by telomerase.
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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.