HoMeCell Lab, Discipline of Biological Engineering, Indian Institute of Technology Gandhinagar, Gandhinagar, India.
Research Programs Unit, Applied Tumor Genomics Program, Faculty of Medicine, University of Helsinki, Biomedicum, Helsinki, Finland.
Cell Cycle. 2021 Nov;20(22):2387-2401. doi: 10.1080/15384101.2021.1982508. Epub 2021 Sep 29.
Binding sites of the chromatin regulator protein CTCF function as important landmarks in the human genome. The recently characterized CTCF-binding sites at LINE-1 repeats depend on another repeat-regulatory protein CGGBP1. These CGGBP1-dependent CTCF-binding sites serve as potential barrier elements for epigenetic marks such as H3K9me3. Such CTCF-binding sites are associated with asymmetric H3K9me3 levels as well as RNA levels in their flanks. The functions of these CGGBP1-dependent CTCF-binding sites remain unknown. By performing targeted studies on candidate CGGBP1-dependent CTCF-binding sites cloned in an SV40 promoter-enhancer episomal system we show that these regions act as inhibitors of ectopic transcription from the SV40 promoter. CGGBP1-dependent CTCF-binding sites that recapitulate their genomic function of loss of CTCF binding upon CGGBP1 depletion and H3K9me3 asymmetry in immediate flanks are also the ones that show the strongest inhibition of ectopic transcription. By performing a series of strand-specific reverse transcription PCRs we demonstrate that this ectopic transcription results in the synthesis of RNA from the SV40 promoter in a direction opposite to the downstream reporter gene in a strand-specific manner. The unleashing of the bidirectionality of the SV40 promoter activity and a breach of the transcription barrier seems to depend on depletion of CGGBP1 and loss of CTCF binding proximal to the SV40 promoter. RNA-sequencing reveals that CGGBP1-regulated CTCF-binding sites act as barriers to transcription at multiple locations genome-wide. These findings suggest a role of CGGBP1-dependent binding sites in restricting ectopic transcription.
染色质调控蛋白 CTCF 的结合位点在人类基因组中充当重要的地标。最近在 LINE-1 重复序列中表征的 CTCF 结合位点依赖于另一种重复调控蛋白 CGGBP1。这些 CGGBP1 依赖性 CTCF 结合位点作为表观遗传标记(如 H3K9me3)的潜在障碍元件。这种 CTCF 结合位点与侧翼的不对称 H3K9me3 水平以及 RNA 水平相关。这些 CGGBP1 依赖性 CTCF 结合位点的功能仍然未知。通过在 SV40 启动子增强子的附加体系统中克隆的候选 CGGBP1 依赖性 CTCF 结合位点进行靶向研究,我们表明这些区域充当 SV40 启动子异位转录的抑制剂。CGGBP1 依赖性 CTCF 结合位点重现了它们的基因组功能,即在 CGGBP1 耗尽和 H3K9me3 不对称性的侧翼立即丧失 CTCF 结合,也显示出最强的异位转录抑制作用。通过进行一系列链特异性反转录 PCR,我们证明这种异位转录导致以链特异性方式从 SV40 启动子合成与下游报告基因相反方向的 RNA。SV40 启动子活性的双向性的释放和转录障碍的突破似乎依赖于 CGGBP1 的耗尽和 SV40 启动子附近 CTCF 结合的丧失。RNA-seq 揭示了 CGGBP1 调节的 CTCF 结合位点在全基因组的多个位置充当转录的障碍。这些发现表明 CGGBP1 依赖性结合位点在限制异位转录中起作用。