Liakos Anastasios, Ntakou-Zamplara Katerina Z, Angelova Nelina, Konstantopoulos Dimitris, Synacheri Anna-Chloe, Spyropoulou Zoi, Tsarmaklis Iason A, Korrou-Karava Despoina, Nikolopoulos Georgios, Lavigne Matthieu D, Fousteri Maria
Institute for Fundamental Biomedical Research, BSRC "Alexander Fleming", Vari, Greece.
Laboratory of Biology, School of Medicine, National and Kapodistrian University of Athens (NKUA), Athens, Greece.
Aging Cell. 2025 Jan;24(1):e14341. doi: 10.1111/acel.14341. Epub 2024 Oct 6.
The integrity of the actively transcribed genome against helix-distorting DNA lesions relies on a multilayered cellular response that enhances Transcription-Coupled Nucleotide Excision Repair (TC-NER). When defective, TC-NER is causatively associated with Cockayne-Syndrome (CS), a rare severe human progeroid disorder. Although the presence of unresolved transcription-blocking lesions is considered a driver of the aging process, the molecular features of the transcription-driven response to genotoxic stress in CS-B cells remain largely unknown. Here, an in-depth view of the transcriptional and associated chromatin dynamics that occur in CS-B cells illuminates the role of CSB therein. By employing high-throughput genome-wide approaches, we observed that absence of a functional CSB protein results in a delay in transcription progression, more positioned +1 nucleosomes, and less dynamic chromatin structure, compared to normal cells. We found that early after exposure to UV, CS-B cells released RNA polymerase II (RNAPII) from promoter-proximal pause sites into elongation. However, the magnitude of this response and the progression of RNAPII were reduced compared to normal counterparts. Notably, we detected increased post-UV retainment of unprocessed nascent RNA transcripts and chromatin-associated elongating RNAPII molecules. Contrary to the prevailing models, we found that transcription initiation is operational in CS-B fibroblasts early after UV and that chromatin accessibility showed a marginal increase. Our study provides robust evidence for the role of CSB in shaping the transcription and chromatin landscape both in homeostasis and in response to genotoxic insults, which is independent of its known role in TC-NER, and which may underlie major aspects of the CS phenotype.
转录活跃的基因组抵御扭曲螺旋的DNA损伤的完整性依赖于一种增强转录偶联核苷酸切除修复(TC-NER)的多层细胞反应。当TC-NER存在缺陷时,会导致科凯恩综合征(CS),这是一种罕见的严重人类早衰症。尽管未解决的转录阻断损伤的存在被认为是衰老过程的驱动因素,但CS-B细胞中转录驱动的基因毒性应激反应的分子特征在很大程度上仍不清楚。在这里,对CS-B细胞中发生的转录及相关染色质动力学的深入观察揭示了CSB在其中的作用。通过采用全基因组高通量方法,我们观察到与正常细胞相比,功能性CSB蛋白的缺失导致转录进程延迟、 +1核小体定位更多以及染色质结构动态性降低。我们发现,在暴露于紫外线后早期,CS-B细胞将RNA聚合酶II(RNAPII)从启动子近端暂停位点释放到延伸阶段。然而,与正常细胞相比,这种反应的幅度和RNAPII的进程有所降低。值得注意的是,我们检测到紫外线照射后未加工的新生RNA转录本和与染色质相关的延伸RNAPII分子的保留增加。与普遍模型相反,我们发现紫外线照射后早期CS-B成纤维细胞中的转录起始是活跃的,并且染色质可及性略有增加。我们的研究为CSB在稳态和对基因毒性损伤反应中塑造转录和染色质格局的作用提供了有力证据,这独立于其在TC-NER中的已知作用,并且可能是CS表型主要方面的基础。