ArticleNucleic acids research2009
Human telomeres that contain (CTAGGG)n repeats show replication dependent instability in somatic cells and the male germline.
Article in Nucleic acids research, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.
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Who cites it
23 citing papers in PubMed, 47 citations in OpenAlex.
- Inherited Chromosomally Integrated Human Herpesvirus 6 Genomes Are Ancient, Intact, and Potentially Able To Reactivate from Telomeres.Journal of virology · 2017Trial
- Telomere variant sequences encode the genetic blueprint for allele-specific telomere length.Nature communications · 2026Article
- Impact of Molecular Crowding on Accessibility of Telomeric Overhangs Forming Multiple G-Quadruplexes.Biomacromolecules · 2025Article
- Impact of Molecular Crowding on Accessibility of Telomeric Overhangs Forming Multiple G-quadruplexes.bioRxiv : the preprint server for biology · 2025Article
- Atlas of telomeric repeat diversity in Arabidopsis thaliana.Genome biology · 2024Article
- Structure, Topology, and Stability of Multiple G-quadruplexes in Long Telomeric Overhangs.Journal of molecular biology · 2024Review
- Article
- GGGCTA repeats can fold into hairpins poorly unfolded by replication protein A: a possible origin of the length-dependent instability of GGGCTA variant repeats in human telomeres.Nucleic acids research · 2021Article
- Folding and persistence times of intramolecular G-quadruplexes transiently embedded in a DNA duplex.Nucleic acids research · 2021Article
- The absence of (TCAGGG)Scientific reports · 2020Article
- Telomere Instability in Lynch Syndrome Families Leads to Some Shorter Telomeres inLife (Basel, Switzerland) · 2020Article
- ALT: A Multi-Faceted Phenomenon.Genes · 2020Review
- Parallel G-triplexes and G-hairpins as potential transitory ensembles in the folding of parallel-stranded DNA G-Quadruplexes.Nucleic acids research · 2019Article
- Telomere content measurement in human hematopoietic cells: Comparative analysis of qPCR and Flow-FISH techniques.Cytometry. Part A : the journal of the International Society for Analytical Cytology · 2016Article
- Mammalian E-type cyclins control chromosome pairing, telomere stability and CDK2 localization in male meiosis.PLoS genetics · 2014Article
- Telomere extension by telomerase and ALT generates variant repeats by mechanistically distinct processes.Nucleic acids research · 2014Article
- Genetic variant in the telomerase gene modifies cancer risk in Lynch syndrome.European journal of human genetics : EJHG · 2013Article
- Conformation and stability of intramolecular telomeric G-quadruplexes: sequence effects in the loops.PloS one · 2013Article
- Telomere length and genetic anticipation in Lynch syndrome.PloS one · 2013Article
- Telomere length measurement-caveats and a critical assessment of the available technologies and tools.Mutation research · 2012Review
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 3 countries.
Funding
Abstract
A number of different processes that impact on telomere length dynamics have been identified but factors that affect the turnover of repeats located proximally within the telomeric DNA are poorly defined. We have identified a particular repeat type (CTAGGG) that is associated with an extraordinarily high mutation rate (20% per gamete) in the male germline. The mutation rate is affected by the length and sequence homogeneity of the (CTAGGG)n array. This level of instability was not seen with other sequence-variant repeats, including the TCAGGG repeat type that has the same composition. Telomeres carrying a (CTAGGG)n array are also highly unstable in somatic cells with the mutation process resulting in small gains or losses of repeats that also occasionally result in the deletion of the whole (CTAGGG)n array. These sequences are prone to quadruplex formation in vitro but adopt a different topology from (TTAGGG)n (see accompanying article). Interestingly, short (CTAGGG)2 oligonucleotides induce a DNA damage response (gammaH2AX foci) as efficiently as (TTAGGG)2 oligos in normal fibroblast cells, suggesting they recruit POT1 from the telomere. Moreover, in vitro assays show that (CTAGGG)n repeats bind POT1 more efficiently than (TTAGGG)n or (TCAGGG)n. We estimate that 7% of human telomeres contain (CTAGGG)n repeats and when present, they create additional problems that probably arise during telomere replication.
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