Department of Microbiology, College of Medicine, National Taiwan University, Taipei 10051, Taiwan.
Center of Precision Medicine, National Taiwan University, Taipei 10051, Taiwan.
Aging (Albany NY). 2021 Apr 4;13(7):10490-10516. doi: 10.18632/aging.202810.
Telomere length homeostasis is essential for maintaining genomic stability and cancer proliferation. Telomerase-negative cancer cells undergo recombination-mediated alternative lengthening of telomeres. Telomeres associate with the nuclear envelope through the shelterin RAP1 and nuclear envelope SUN1 proteins. However, how the associations between telomeres and the nuclear envelope affect the progression of telomere recombination is not understood. Here, we show that telomere anchorage might inhibit telomere-telomere recombination. SUN1 depletion stimulates the formation of alternative lengthening of telomeres-associated promyelocytic leukemia bodies in ALT cells. In contrast, overexpression of a telomere-nuclear envelope-tethering chimera protein, RAP1-SUN1, suppresses APB formation. Moreover, inhibition of this nuclear envelope attachment alleviates the requirement of TOP3α for resolving the supercoiling pressure during telomere recombination. A coimmunoprecipitation assay revealed that the SUN1 N-terminal nucleoplasmic domain interacts with the RAP1 middle coil domain, and phosphorylation-mimetic mutations in RAP1 inhibit this interaction. However, abolishing the RAP1-SUN1 interaction does not hinder APB formation, which hints at the existence of another SUN1-dependent telomere anchorage pathway. In summary, our results reveal an inhibitory role of telomere-nuclear envelope association in telomere-telomere recombination and imply the presence of redundant pathways for the telomere-nuclear envelope association in ALT cells.
端粒长度的动态平衡对于维持基因组稳定性和癌症增殖至关重要。端粒酶阴性的癌细胞会经历重组介导的端粒的替代性延长。端粒通过 shelterin RAP1 和核膜 SUN1 蛋白与核膜结合。然而,端粒与核膜之间的结合如何影响端粒重组的进程尚不清楚。在这里,我们表明端粒锚定可能抑制端粒-端粒重组。SUN1 缺失会刺激 ALT 细胞中与替代性延长的端粒相关的早幼粒细胞白血病体的形成。相比之下,端粒-核膜束缚嵌合蛋白 RAP1-SUN1 的过表达会抑制 APB 的形成。此外,抑制这种核膜附着可以减轻 TOP3α 在端粒重组过程中消除超螺旋压力的要求。免疫共沉淀实验表明,SUN1 N 端核质域与 RAP1 中间卷曲结构域相互作用,并且 RAP1 中的磷酸化模拟突变抑制了这种相互作用。然而,消除 RAP1-SUN1 相互作用并不会阻碍 APB 的形成,这表明存在另一种依赖于 SUN1 的端粒锚定途径。总之,我们的结果揭示了端粒-核膜结合在端粒-端粒重组中的抑制作用,并暗示在 ALT 细胞中端粒-核膜结合存在冗余途径。