Dipartimento di Biotecnologie e Bioscienze, Universita di Milano-Bicocca, Piazza della Scienza 2, 20126 Milano, Italy.
Front Biosci (Landmark Ed). 2012 Jan 1;17(5):1715-28. doi: 10.2741/4014.
The ends of eukaryotic chromosomes need to be protected from detection as DNA double strand breaks by the DNA damage response pathways. Failure to do so would have devastating consequences for genome integrity. Packaging of chromosome ends into protective structures called telomeres prevents checkpoint activation and DNA repair/recombination activities. Several studies on a variety of organisms have revealed that protein complexes with specificity for telomeric DNA protect chromosome ends from being recognized as DNA double-strand breaks and regulate telomere maintenance by the telomerase. In this review, we will discuss the consequences of telomere dysfunction and our understanding of how telomere integrity is maintained.
真核生物染色体的末端需要通过 DNA 损伤反应途径来防止被检测为 DNA 双链断裂。如果不能做到这一点，基因组的完整性将会受到毁灭性的影响。将染色体末端包装成称为端粒的保护结构，可以防止检测点的激活和 DNA 修复/重组活性。对多种生物体的几项研究表明，具有端粒特异性的蛋白质复合物可以保护染色体末端不被识别为 DNA 双链断裂，并通过端粒酶调节端粒的维持。在这篇综述中，我们将讨论端粒功能障碍的后果，以及我们对端粒完整性是如何维持的理解。
