ArticleThe Journal of biological chemistry2011
TIN2 protein dyskeratosis congenita missense mutants are defective in association with telomerase.
Article in The Journal of biological chemistry, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.
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Who cites it
43 citing papers in PubMed, 66 citations in OpenAlex.
- Biogenesis and Regulation of Telomerase during Development and Cancer.Cold Spring Harbor perspectives in biology · 2026Review
- C-Terminal Extended Domain-Independent Telomere Maintenance: Modeling the Function of TIN2 Isoforms inInternational journal of molecular sciences · 2025Article
- A de novo TINF2, R282C Mutation in a Case of Dyskeratosis Congenital Founded by Next-Generation Sequencing.Iranian biomedical journal · 2023Article
- Differential impact of a dyskeratosis congenita mutation in TPP1 on mouse hematopoiesis and germline.Life science alliance · 2022Article
- A Rare HeterozygousFrontiers in genetics · 2022Article
- Article
- TPP1 mutagenesis screens unravel shelterin interfaces and functions in hematopoiesis.JCI insight · 2021Article
- Dyskeratosis congenita.Autopsy & case reports · 2020Article
- Regulation of human telomerase in homeostasis and disease.Nature reviews. Molecular cell biology · 2020Review
- Review
- The role of telomere-binding modulators in pluripotent stem cells.Protein & cell · 2020Review
- TIN2 Functions with TPP1/POT1 To Stimulate Telomerase Processivity.Molecular and cellular biology · 2019Article
- How long does telomerase extend telomeres? Regulation of telomerase release and telomere length homeostasis.Current genetics · 2018Review
- The C-Terminal Extension Unique to the Long Isoform of the Shelterin Component TIN2 Enhances Its Interaction with TRF2 in a Phosphorylation- and Dyskeratosis Congenita Cluster-Dependent Fashion.Molecular and cellular biology · 2018Article
- Acute telomerase components depletion triggers oxidative stress as an early event previous to telomeric shortening.Redox biology · 2018Article
- Shwachman-Diamond Syndrome Protein SBDS Maintains Human Telomeres by Regulating Telomerase Recruitment.Cell reports · 2018Article
- Telomerase Regulation from Beginning to the End.Genes · 2016Review
- The molecular genetics of the telomere biology disorders.RNA biology · 2016Review
- Article
- The shelterin complex and hematopoiesis.The Journal of clinical investigation · 2016Review
Corrections and comments
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Authors and funding
5 authors at 1 institution in 2 countries.
Funding
Abstract
Dyskeratosis congenita (DC) is a progressive and heterogeneous congenital disorder that affects multiple systems and is characterized by bone marrow failure and a triad of abnormal skin pigmentation, nail dystrophy, and oral leukoplakia. One common feature for all DC patients is abnormally short telomeres and defects in telomere biology. Most of the known DC mutations have been found to affect core components of the telomerase holoenzyme. Recently, multiple mutations in the gene encoding the telomeric protein TIN2 have been identified in DC patients with intact telomerase genes, but the molecular mechanisms underlying TIN2 mutation-mediated DC remain unknown. Here, we demonstrate that ectopic expression of TIN2 with DC missense mutations in human cells led to accelerated telomere shortening, similar to the telomere phenotypes found in DC patients. However, this telomere shortening was not accompanied by changes in total telomerase activity, localization of TIN2, or telomere end protection status. Interestingly, we found TIN2 to participate in the TPP1-dependent recruitment of telomerase activity. Furthermore, DC mutations in TIN2 led to its decreased ability to associate with TERC and telomerase activity. Taken together, our data suggest that TIN2 mutations in DC may compromise the telomere recruitment of telomerase, leading to telomere shortening and the associated pathogenesis.
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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.