ArticleNucleic acids research2020
Full length RTEL1 is required for the elongation of the single-stranded telomeric overhang by telomerase.
Article in Nucleic acids research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
25 citing papers in PubMed, 38 citations in OpenAlex.
- A dual role for cGAS in shaping cellular and organismal responses to genomic instability.Genes & development · 2026Article
- Systematic Druggable Genome-Wide Analysis Identifies Therapeutic Targets for Aging: A Mendelian Randomization Study.Health science reports · 2026Article
- 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
- Rapid dynamics allow the low-abundance RTEL1 helicase to promote telomere replication.Nucleic acids research · 2025Article
- RTEL1 is upregulated in gastric cancer and promotes tumor growth.Journal of cancer research and clinical oncology · 2024Article
- Lipid Profiles, Telomere Length, and the Risk of Malignant Tumors: A Mendelian Randomization and Mediation Analysis.Biomedicines · 2024Article
- Distinct Immune Homeostasis Remodeling Patterns after HLA-Matched and Haploidentical Transplantation.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Article
- Harnessing Genetics to Extend Lifespan and Healthspan: Current Progress and Future Directions.Cureus · 2024Review
- Article
- Telomouse-a mouse model with human-length telomeres generated by a single amino acid change in RTEL1.Nature communications · 2023Article
- Hyperextended telomeres promote formation of C-circle DNA in telomerase positive human cells.The Journal of biological chemistry · 2023Article
- Hyperextended telomeres promote C-circle formation in telomerase positive human cells.bioRxiv : the preprint server for biology · 2023Article
- Deficiency for SAMHD1 activates MDA5 in a cGAS/STING-dependent manner.The Journal of experimental medicine · 2023Article
- Regulator of telomere elongation helicase 1 gene and its association with malignancy.Cancer reports (Hoboken, N.J.) · 2023Review
- Compound heterozygous mutation of RTEL1 in interstitial lung disease complicated with pneumothorax and emphysema: A case report and literature review.Respirology case reports · 2022Article
- Extension of the Life Span by Acarbose: Is It Mediated by the Gut Microbiota?Aging and disease · 2022Article
- Inherited human Apollo deficiency causes severe bone marrow failure and developmental defects.Blood · 2022Article
- Article
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Authors and funding
8 authors at 2 institutions in 2 countries.
Funding
Abstract
Telomeres cap the ends of eukaryotic chromosomes and distinguish them from broken DNA ends to suppress DNA damage response, cell cycle arrest and genomic instability. Telomeres are elongated by telomerase to compensate for incomplete replication and nuclease degradation and to extend the proliferation potential of germ and stem cells and most cancers. However, telomeres in somatic cells gradually shorten with age, ultimately leading to cellular senescence. Hoyeraal-Hreidarsson syndrome (HHS) is characterized by accelerated telomere shortening and diverse symptoms including bone marrow failure, immunodeficiency, and neurodevelopmental defects. HHS is caused by germline mutations in telomerase subunits, factors essential for its biogenesis and recruitment to telomeres, and in the helicase RTEL1. While diverse phenotypes were associated with RTEL1 deficiency, the telomeric role of RTEL1 affected in HHS is yet unknown. Inducible ectopic expression of wild-type RTEL1 in patient fibroblasts rescued the cells, enabled telomerase-dependent telomere elongation and suppressed the abnormal cellular phenotypes, while silencing its expression resulted in gradual telomere shortening. Our observations reveal an essential role of the RTEL1 C-terminus in facilitating telomerase action at the telomeric 3' overhang. Thus, the common etiology for HHS is the compromised telomerase action, resulting in telomere shortening and reduced lifespan of telomerase positive cells.
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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.