Li Xiufeng, Liu Nian
State Key Laboratory of Green Biomanufacturing, Tsinghua University-Peking University Joint Center for Life Sciences, Center for Synthetic and Systems Biology, School of Life Sciences, Tsinghua University, Beijing, China.
State Key Laboratory of Green Biomanufacturing, Tsinghua University-Peking University Joint Center for Life Sciences, Center for Synthetic and Systems Biology, School of Life Sciences, Tsinghua University, Beijing, China.
Trends Genet. 2025 Jul;41(7):577-589. doi: 10.1016/j.tig.2025.04.011. Epub 2025 May 16.
LINE-1 (long interspersed nuclear element 1, L1) retrotransposons constitute 17% of human DNA (0.5 million genomic L1 copies) and exhibit context-dependent expression in different cell lines. Recent studies reveal that L1 is under multilayered control by diverse factors that either collaborate or compete with each other to ensure precise L1 activity. Remarkably, L1s have been co-opted as various transcription-dependent regulatory elements, such as promoters, enhancers, and topologically associating domain (TAD) boundaries, that regulate gene expression in zygotic genome activation, aging, cancer, and other disorders. This review highlights the regulation of L1 and its regulatory functions that influence disease and development.
LINE-1（长散在核元件1，L1）逆转录转座子约占人类DNA的17%（约50万个基因组L1拷贝），并在不同细胞系中呈现出依赖于上下文的表达。最近的研究表明，L1受到多种因素的多层控制，这些因素相互协作或竞争，以确保L1的精确活性。值得注意的是，L1已被用作各种转录依赖性调控元件，如启动子、增强子和拓扑相关结构域（TAD）边界，它们在合子基因组激活、衰老、癌症和其他疾病中调节基因表达。本综述重点介绍了L1的调控及其对疾病和发育的调控功能。
