Telomere Maintenance and Genome Stability

Hernandez-Sanchez, Wilnelly; Xu, Mengyuan; Taylor, Derek

doi:10.1016/b978-0-12-803309-8.00021-5

Cited by 2 publications

(1 citation statement)

References 190 publications

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“…However, this is far from enough to fully understand this malignancy and necessitates a more detailed molecular characterization of the disease. Eukaryotic organisms exhibit highly specialized DNA-protein structures at the end of linear chromosomes, called telomeres; that help maintains genomic stability (Hernandez-Sanchez, Xu et al 2016). Owing to the end-replication problem, telomeres are progressively shortened during successive cell divisions that cause cellular senescence, ultimately leading to cell mortality.…”

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Assessment of Telomere Length and Molecular Characterization of TERT Gene Promoter in Periampullary Carcinomas

Gregório

Thakur

Rivero

et al. 2021

Preprint

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Genetic and epigenetic alterations of the telomere maintenance machinery like telomere length and telomerase reverse transcriptase (encoded by TERT gene) are reported in several human malignancies. However, there is limited knowledge on the status of the telomere machinery in periampullary carcinomas (PAC) that are rare and heterogeneous groups of cancers arising from different anatomic sites around the ampulla of Vater. In the current study, we investigated the relative telomere length (RTL) and the most frequent genetic and epigenetic alterations in the TERT promoter in PAC (n=20) and compared with tumor-adjacent nonpathological duodenum (NDu; n=16). We found shorter RTLs (1.27 vs 1.33, P=0.01) and lower TERT protein expression (p=0.04) in PAC tissues as compared to the NDu. Although we did not find any mutation at two reactivating hotspot mutation sites of the TERT promoter, we detected polymorphism in 55% (11/20) of the cases at rs2853669 (T>C). Also, we found a hypermethylated region in the TERT promoter of PACs consisting of four CpGs (cg10896616 with ∆β 7%; cg02545192 with ∆β 9%; cg03323598 with ∆β 19%; and cg07285213 with ∆β 15%). In conclusion, we identified shorter telomeres with DNA hypermethylation in the TERT promoter region and lower TERT protein expression in PAC tissues. Further studies with a larger sample size are necessary to substantiate these results.

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confidence: 99%

Assessment of Telomere Length and Molecular Characterization of TERT Gene Promoter in Periampullary Carcinomas

Gregório

Thakur

Rivero

et al. 2021

Preprint

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Giardia telomeres and telomerase

Lagunas-Rangel

2024

Parasitol Res

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Giardia duodenalis, the protozoan responsible for giardiasis, is a significant contributor to millions of diarrheal diseases worldwide. Despite the availability of treatments for this parasitic infection, therapeutic failures are alarmingly frequent. Thus, there is a clear need to identify new therapeutic targets. Giardia telomeres were previously identified, but our understanding of these structures and the critical role played by Giardia telomerase in maintaining genomic stability and its influence on cellular processes remains limited. In this regard, it is known that all Giardia chromosomes are capped by small telomeres, organized and protected by specific proteins that regulate their functions. To counteract natural telomere shortening and maintain high proliferation, Giardia exhibits constant telomerase activity and employs additional mechanisms, such as the formation of G-quadruplex structures and the involvement of transposable elements linked to telomeric repeats. Thus, this study aims to address the existing knowledge gap by compiling the available information (until 2023) about Giardia telomeres and telomerase, focusing on highlighting the distinctive features within this parasite. Furthermore, the potential feasibility of targeting Giardia telomeres and/or telomerase as an innovative therapeutic strategy is discussed.

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Telomere Maintenance and Genome Stability

Cited by 2 publications

References 190 publications

Assessment of Telomere Length and Molecular Characterization of TERT Gene Promoter in Periampullary Carcinomas

Assessment of Telomere Length and Molecular Characterization of TERT Gene Promoter in Periampullary Carcinomas

Giardia telomeres and telomerase

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