Nera Bernadette, Huang Hui-Shun, Lai Thao, Xu Lifeng
Department of Microbiology and Molecular Genetics, University of California, Davis, California 95616, USA.
Nat Commun. 2015 Dec 7;6:10132. doi: 10.1038/ncomms10132.
The shelterin protein TRF2 is essential for chromosome-end protection. Depletion of TRF2 causes chromosome end-to-end fusions, initiating genomic instability that can be cancer promoting. Paradoxically, significant increased levels of TRF2 are observed in a subset of human cancers. Experimental overexpression of TRF2 has also been shown to induce telomere shortening, through an unknown mechanism. Here we report that TRF2 overexpression results in replication stalling in duplex telomeric repeat tracts and the subsequent formation of telomeric ultrafine anaphase bridges (UFBs), ultimately leading to stochastic loss of telomeric sequences. These TRF2 overexpression-induced telomere deletions generate chromosome fusions resembling those detected in human cancers and in mammalian cells containing critically shortened telomeres. Therefore, our findings have uncovered a second pathway by which altered TRF2 protein levels can induce end-to-end fusions. The observations also provide mechanistic insight into the molecular basis of genomic instability in tumour cells containing significantly increased TRF2 levels.
保护端粒蛋白TRF2对染色体末端保护至关重要。TRF2缺失会导致染色体端端融合,引发可促进癌症发生的基因组不稳定。矛盾的是,在一部分人类癌症中观察到TRF2水平显著升高。实验性过表达TRF2也已显示可通过未知机制诱导端粒缩短。在此我们报告,TRF2过表达导致双链端粒重复序列中的复制停滞以及随后端粒超细微后期桥(UFBs)的形成,最终导致端粒序列的随机丢失。这些TRF2过表达诱导的端粒缺失产生的染色体融合类似于在人类癌症以及端粒严重缩短的哺乳动物细胞中检测到的融合。因此,我们的研究结果揭示了TRF2蛋白水平改变可诱导端端融合的第二条途径。这些观察结果还为TRF2水平显著升高的肿瘤细胞中基因组不稳定的分子基础提供了机制性见解。