ArticleFrontiers in oncology2013
Characterization and rescue of telomeric abnormalities in ICF syndrome type I fibroblasts.
Article in Frontiers in oncology, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 48 citations in OpenAlex.
- Telomeres: an organized string linking plants and mammals.Biology direct · 2024Review
- Telomeric repeat-containing RNA is dysregulated in acute myeloid leukemia.Blood advances · 2023Article
- Article
- Review
- Telomere Transcription inBiomedicines · 2023Article
- Aging Hallmarks and the Role of Oxidative Stress.Antioxidants (Basel, Switzerland) · 2023Review
- Mammalian telomeric RNA (TERRA) can be translated to produce valine-arginine and glycine-leucine dipeptide repeat proteins.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- TERRA beyond cancer: the biology of telomeric repeat-containing RNAs in somatic and germ cells.Frontiers in aging · 2023Review
- Review
- Roles of Long Non-coding RNAs in the Development of Aging-Related Neurodegenerative Diseases.Frontiers in molecular neuroscience · 2022Review
- RNase H1, the Gold Standard for R-Loop Detection.Methods in molecular biology (Clifton, N.J.) · 2022Review
- Stress and telomere shortening: Insights from cellular mechanisms.Ageing research reviews · 2022Review
- RBL2 bi-allelic truncating variants cause severe motor and cognitive impairment without evidence for abnormalities in DNA methylation or telomeric function.Journal of human genetics · 2021Article
- Losing DNA methylation at repetitive elements and breaking bad.Epigenetics & chromatin · 2021Review
- Correction of Heritable Epigenetic Defects Using Editing Tools.International journal of molecular sciences · 2021Review
- Article
- Review
- Loss of MECP2 Leads to Activation of P53 and Neuronal Senescence.Stem cell reports · 2018Article
- The Alteration of Subtelomeric DNA Methylation in Aging-Related Diseases.Frontiers in genetics · 2018Review
- Telomeres in ICF syndrome cells are vulnerable to DNA damage due to elevated DNA:RNA hybrids.Nature communications · 2017Article
Corrections and comments
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Authors and funding
7 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Mutations in the human DNA methyltransferase 3B (DNMT3B) gene lead to ICF (immunodeficiency, centromeric region instability, and facial anomalies) syndrome type I. We have previously described a telomere-related phenotype in cells from these patients, involving severe hypomethylation of subtelomeric regions, abnormally short telomeres and high levels of telomeric-repeat-containing RNA (TERRA). Here we demonstrate that ICF-patient fibroblasts carry abnormally short telomeres at a low population doubling (PD) and enter senescence prematurely. Accordingly, we attempted to rescue the senescence phenotype by ectopic expression of human telomerase, which led to elongated telomeres with hypomethylated subtelomeres. The senescence phenotype was overcome under these conditions, thus dissociating subtelomeric-DNA hypomethylation per se from the senescence phenotype. In addition, we examined whether the subtelomeric methylation could be restored by expression of a normal copy of full length DNMT3B1 in ICF fibroblasts. Ectopic expression of DNMT3B1 failed to rescue the abnormal hypomethylation at subtelomeres. However, partial rescue of subtelomeric-hypomethylation was achieved by co-expression of DNMT3B1 together with DNA methyltransferase 3-like (DNMT3L), encoding a protein that functions as a stimulator of DNMT3A and DNMT3B. DNMT3B1 and DNMT3L are predominantly expressed during early embryonic development, suggesting that de novo subtelomeric DNA methylation during crucial stages of human embryonic development may be necessary for setting and maintaining normal telomere length.
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