Key Laboratory of Breeding Biotechnology and Sustainable Aquaculture, Institute of Hydrobiology, Chinese Academy of Sciences, Wuhan 430072, China.
The Innovation of Seed Design, Chinese Academy of Sciences, Wuhan 430072, China.
Int J Mol Sci. 2023 Dec 28;25(1):424. doi: 10.3390/ijms25010424.
Long interspersed element-1 (LINE-1; L1s) are mobile genetic elements that comprise nearly 20% of the human genome. L1s have been shown to have important functions in various biological processes, and their dysfunction is thought to be linked with diseases and cancers. However, the roles of the repetitive elements are largely not understood. While the CRISPR activation (CRISPRa) system based on catalytically deadCas9 (dCas9) is widely used for genome-wide interrogation of gene function and genetic interaction, few studies have been conducted on L1s. Here, we report using the CRISPRa method to efficiently activate L1s in human L02 cells, a derivative of the HeLa cancer cell line. After CRISPRa, the young L1 subfamilies such as L1HS/L1PA1 and L1PA2 are found to be expressed at higher levels than the older L1s. The L1s with high levels of transcription are closer to full-length and are more densely occupied by the YY1 transcription factor. The activated L1s can either be mis-spliced to form chimeric transcripts or act as alternative promoters or enhancers to facilitate the expression of neighboring genes. The method described here can be used for studying the functional roles of young L1s in cultured cells of interest.
长散在元件-1(LINE-1;L1s)是一种移动遗传元件,占人类基因组的近 20%。已经证明 L1s 在各种生物过程中具有重要功能,其功能障碍被认为与疾病和癌症有关。然而,重复元件的作用在很大程度上尚未被理解。虽然基于无催化活性 Cas9(dCas9)的 CRISPR 激活(CRISPRa)系统广泛用于全基因组基因功能和遗传相互作用的研究,但对 L1s 的研究很少。在这里,我们报告了使用 CRISPRa 方法在人 L02 细胞(HeLa 癌细胞系的衍生物)中有效激活 L1s。CRISPRa 后,年轻的 L1 亚家族(如 L1HS/L1PA1 和 L1PA2)的表达水平高于较老的 L1s。转录水平较高的 L1s 更接近全长,并且更密集地被 YY1 转录因子占据。转录激活的 L1s 可以发生错误剪接,形成嵌合转录本,或者作为替代启动子或增强子,促进邻近基因的表达。这里描述的方法可用于研究在感兴趣的培养细胞中年轻 L1s 的功能作用。