@conference{
author = "Joksić, I. and Vujić, Dragana and Guć-Šćekić, Marija and Leskovac, Andreja and Petrović, Sandra and Miković, Z.",
year = "2009",
abstract = "Telomeres consist of repeated DNA sequences and associated proteins that lie at the termini of linear chromosomes and are critical to the protection and stability of internal chromosome sequences, a function known as telomere “capping”. In capping chromosomes ends, telomeres restrict chromosome end resection by exonucleases and prevent the improper activation of checkpoint response factors and DNA damage response pathways such as homologous recombination (HR) and non-homologous end joining (NHEJ). Telomeres shorten as cell divide, but also due to action of restriction exonucleases, oxidative damage and inappropriate recombination. When telomere shorten to a critical length, they become uncapped, which can lead to permanent cell cycle arrest. The development of the “TIF” (telomere dysfunction induced foci) assay that is based on colocalization of the DNA repair factors 53BP1 and γH2AX with uncapped telomeres enables measurement of telomere uncapping in different tissues. Our aim was to investigate correlation between homologous DNA recombination processes and function of telomeres. In nine primary fibroblast cell lines, obtained from patients presenting with bone marrow failure syndrome and Fanconi anemia clinical and cellular (diepoxybutane- DEB positive) phenotype, baseline incidence of SCE, T-SCE, γH2AX and TIF were examined. The average incidence of SCE was 4.42+-0.96, ranging from 3.38 to 6.5 per cell, whereas incidence of T-SCE was 1.91+-0.81 ranging from 1 to 3.33. Baseline level of γH2AX foci was 2.27+-1.55 ranging from 0.8 to 4.2, whereas average incidence of TIF was 2.97+-1.47, ranging from 1.44 to 5 per cell. Statistically significant positive correlation between incidence of SCE and TIF was observed (0.77 p<0.05) indicating a connection between uncapped telomeres in these cells and homologous recombination, a link which should be further investigated.",
journal = "ICEM 2009 : 10th 10th International Conference on Enviromental Mutagens : programme and the book of abstracts; Aug 20-25, 2009; Firenze, Italy",
title = "Telomere dysfunction induced foci correlates positively with incidence of sister chromatid exchanges in cells of Fanconi anemia patients",
pages = "135-135",
url = "https://hdl.handle.net/21.15107/rcub_vinar_11711"
}
