ArticleThe EMBO journal1995
Mechanisms underlying telomere repeat turnover, revealed by hypervariable variant repeat distribution patterns in the human Xp/Yp telomere.
Article in The EMBO journal, 1995. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 1 of them a synthesis that pooled it.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
52 citing papers in PubMed, 1 synthesis or guideline pooled it, 121 citations in OpenAlex.
- Gender and telomere length: systematic review and meta-analysis.Experimental gerontology · 2014Pooled it
- 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
- Telomere-driven replicative crisis is driven by large-scale changes in genomic architecture.Genome research · 2026Article
- Single-molecule variation in telomeric sequence and structure across humans.bioRxiv : the preprint server for biology · 2026Article
- DNA-m6A calling and integrated long-read epigenetic and genetic analysis withGenome research · 2024Article
- Atlas of telomeric repeat diversity in Arabidopsis thaliana.Genome biology · 2024Article
- The Structure of Simple Satellite Variation in the Human Genome and Its Correlation With Centromere Ancestry.Genome biology and evolution · 2024Article
- Neotelomeres and telomere-spanning chromosomal arm fusions in cancer genomes revealed by long-read sequencing.Cell genomics · 2024Article
- Characterization of telomere variant repeats using long reads enables allele-specific telomere length estimation.BMC bioinformatics · 2024Article
- Telomere sequence variability in genotypes from natural plant populations: unusual block-organized double-monomer terminal telomeric arrays.BMC genomics · 2023Article
- ATRX modulates the escape from a telomere crisis.PLoS genetics · 2022Article
- Dynamic interaction of BRCA2 with telomeric G-quadruplexes underlies telomere replication homeostasis.Nature communications · 2022Article
- Telomeric replication stress: the beginning and the end for alternative lengthening of telomeres cancers.Open biology · 2022Review
- 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
- The absence of (TCAGGG)Scientific reports · 2020Article
- Telomere Instability in Lynch Syndrome Families Leads to Some Shorter Telomeres inLife (Basel, Switzerland) · 2020Article
- Genomic footprints of activated telomere maintenance mechanisms in cancer.Nature communications · 2020Article
- ALT: A Multi-Faceted Phenomenon.Genes · 2020Review
- Telomere Length Maintenance and Its Transcriptional Regulation in Lynch Syndrome and Sporadic Colorectal Carcinoma.Frontiers in oncology · 2019Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Sequences immediately adjacent to the human Xp/Yp telomere exhibit a high frequency of base substitutional polymorphisms, together with almost complete linkage disequilibrium, to create only a few diverged haplotypes. This sequence divergence has been used to develop a PCR-based system for mapping the distribution of the telomere (TTAGGG) and variant repeats (TGAGGG and TCAGGG) at the proximal end of the telomere repeat array. The distribution of these repeats is extremely variable. Almost all Xp/Yp telomeres are different, indicating a high mutation rate. Some telomere maps associated with the same flanking haplotype show similarities, identifying subsets of telomeres that share a recent common ancestry. Mechanisms underlying the rapid turnover of repeats at the proximal end of the Xp/Yp telomere include intra-allelic processes, such as slippage during replication. Inter-allelic exchanges may occur occasionally, but telomerase activity probably plays only a minor role in the germline turnover of proximally located telomere and variant repeats.
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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.