ArticleBlood2012
Conditional TRF1 knockout in the hematopoietic compartment leads to bone marrow failure and recapitulates clinical features of dyskeratosis congenita.
Article in Blood, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers.
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Who cites it
51 citing papers in PubMed, 76 citations in OpenAlex.
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- Depletion of the TRF1 telomere-binding protein leads to leaner mice with altered metabolic profiles.Aging · 2025Article
- Telomere function and regulation from mouse models to human ageing and disease.Nature reviews. Molecular cell biology · 2025Review
- Roles of chromatin and genome instability in cellular senescence and their relevance to ageing and related diseases.Nature reviews. Molecular cell biology · 2024Review
- Renal fibroblasts are involved in fibrogenic changes in kidney fibrosis associated with dysfunctional telomeres.Experimental & molecular medicine · 2024Article
- Different Role of TRF1 and TRF2 Expression in Non-Small Cell Lung Cancers.OncoTargets and therapy · 2024Article
- Telomere length dynamics measured by flow-FISH in patients with obesity undergoing bariatric surgery.Scientific reports · 2023Article
- The landscape of aging.Science China. Life sciences · 2022Review
- Consequences of telomere dysfunction in fibroblasts, club and basal cells for lung fibrosis development.Nature communications · 2022Article
- Telomere dysfunction in ageing and age-related diseases.Nature cell biology · 2022Review
- Dyskeratosis congenita: rare case report of Syria.Oxford medical case reports · 2021Article
- Growing and aging of hematopoietic stem cells.World journal of stem cells · 2021Review
- Cord blood telomere shortening associates with increased gestational age and birth weight in preterm neonates.Experimental and therapeutic medicine · 2021Article
- Short and dysfunctional telomeres sensitize the kidneys to develop fibrosis.Nature aging · 2021Article
- Implication of therapeutic outcomes associated with molecular characterization of paediatric aplastic anaemia.Biochemistry and biophysics reports · 2021Article
- Naked mole rat TRF1 safeguards glycolytic capacity and telomere replication under low oxygen.Science advances · 2021Article
- Hallmarks of Cancers: Primary Antibody DeficiencyFrontiers in immunology · 2021Review
Corrections and comments
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Authors and funding
4 authors at 1 institution in 1 country.
Funding
Abstract
TRF1 is part of the shelterin complex, which binds telomeres and it is essential for their protection. Ablation of TRF1 induces sister telomere fusions and aberrant numbers of telomeric signals associated with telomere fragility. Dyskeratosis congenita is characterized by a mucocutaneous triad, bone marrow failure (BMF), and presence of short telomeres because of mutations in telomerase. A subset of patients, however, show mutations in the shelterin component TIN2, a TRF1-interacting protein, presenting a more severe phenotype and presence of very short telomeres despite normal telomerase activity. Allelic variations in TRF1 have been found associated with BMF. To address a possible role for TRF1 dysfunction in BMF, here we generated a mouse model with conditional TRF1 deletion in the hematopoietic system. Chronic TRF1 deletion results in increased DNA damage and cellular senescence, but not increased apoptosis, in BM progenitor cells, leading to severe aplasia. Importantly, increased compensatory proliferation of BM stem cells is associated with rapid telomere shortening and further increase in senescent cells in vivo, providing a mechanism for the very short telomeres of human patients with mutations in the shelterin TIN2. Together, these results represent proof of principle that mutations in TRF1 lead to the main clinical features of BMF.
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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.