作者: Gaëlle Pennarun , Françoise Hoffschir , Deborah Revaud , Christine Granotier , Laurent R. Gauthier
DOI: 10.1093/NAR/GKP1248
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摘要: Telomere maintenance is essential to preserve genomic stability and involves several telomere-specific proteins as well DNA replication repair proteins. The kinase ATR, which has a crucial function in maintaining genome integrity from yeast human, been shown be involved telomere eukaryotic organisms, including yeast, Arabidopsis Drosophila. However, its role mammals remains poorly explored. Here, we report by using telomere-fluorescence situ hybridization (Telo-FISH) on metaphase chromosomes that ATR deficiency causes instability both primary human fibroblasts Seckel syndrome patients HeLa cells. aberrations resulting (i.e. sister fusions chromatid-type aberrations) are mainly generated during and/or after replication, involve leading lagging strand telomeres chromosome orientation-FISH (CO-FISH). Moreover, show strongly sensitizes cells the G-quadruplex ligand 360A, enhancing involving specifically telomeres. Altogether, these data reveal plays critical