Wellcome Trust Centre for Cell Biology, University of Edinburgh , Edinburgh , UK.
Front Oncol. 2013 Jun 10;3:146. doi: 10.3389/fonc.2013.00146. eCollection 2013.
Telomeres are the terminal structures at the ends of linear chromosomes that represent a solution to the end replication problem. Specific binding of the six-protein subunit complex shelterin to telomeric, repetitive TTAGGG DNA sequences contributes to the stable architecture and maintenance of telomeres. Proteins involved in the DNA damage response are also localized at telomeres, and play a role in the surveillance and maintenance of telomere integrity. The enzyme responsible for telomere extension is telomerase, a ribonucleoprotein with reverse transcriptase activity. In the absence of telomerase, telomeres shorten to a length threshold that triggers the DNA damage response and replicative senescence. Here, we will summarize the latest findings concerning vertebrate telomere structure and epigenetics, and we present data regarding the impact of short telomeres upon cell signaling. In particular, in murine embryonic stem cells lacking telomerase, we found that distribution of cytosolic/nuclear β-catenin, a key component of the Wnt signaling pathway, changes when telomeres become critically short. We discuss implications and future perspectives of the effect of epigenetic modifications and/or conformational changes of telomeres on cell metabolism and signaling networks. Such an analysis may unveil potential therapeutic targets for pathologies like cancer, where the integrity of telomeres is altered.
端粒是线性染色体末端的结构,代表了解决末端复制问题的一种解决方案。六蛋白亚基复合物 shelterin 特异性结合到端粒、重复的 TTAGGG DNA 序列,有助于端粒的稳定结构和维持。参与 DNA 损伤反应的蛋白质也定位于端粒,在端粒完整性的监测和维持中发挥作用。负责端粒延伸的酶是端粒酶,一种具有逆转录酶活性的核糖核蛋白。在没有端粒酶的情况下,端粒缩短到一个触发 DNA 损伤反应和复制性衰老的长度阈值。在这里,我们将总结有关脊椎动物端粒结构和表观遗传学的最新发现,并介绍有关短端粒对细胞信号的影响的数据。特别是,在缺乏端粒酶的小鼠胚胎干细胞中,我们发现当端粒变得非常短时,细胞质/核 β-连环蛋白(Wnt 信号通路的关键组成部分)的分布发生变化。我们讨论了端粒的表观遗传修饰和/或构象变化对细胞代谢和信号网络的影响及其意义和未来展望。这种分析可能揭示出癌症等疾病的潜在治疗靶点,因为这些疾病中端粒的完整性发生了改变。