Genetics Laboratory, Royal University Hospital, Saskatoon, SK S7N 0W8, Canada.
Biol Direct. 2013 Sep 13;8:22. doi: 10.1186/1745-6150-8-22.
LINE-1 (L1) retrotransposons are repetitive elements in mammalian genomes. They are capable of synthesizing DNA on their own RNA templates by harnessing reverse transcriptase (RT) that they encode. Abundantly expressed full-length L1s and their RT are found to globally influence gene expression profiles, differentiation state, and proliferation capacity of early embryos and many types of cancer, albeit by yet unknown mechanisms. They are essential for the progression of early development and the establishment of a cancer-related undifferentiated state. This raises important questions regarding the functional significance of L1 RT in these cell systems. Massive nuclear L1-linked reverse transcription has been shown to occur in mouse zygotes and two-cell embryos, and this phenomenon is purported to be DNA replication independent. This review argues against this claim with the goal of understanding the nature of this phenomenon and the role of L1 RT in early embryos and cancers. Available L1 data are revisited and integrated with relevant findings accumulated in the fields of replication timing, chromatin organization, and epigenetics, bringing together evidence that strongly supports two new concepts. First, noncanonical replication of a portion of genomic full-length L1s by means of L1 RNP-driven reverse transcription is proposed to co-exist with DNA polymerase-dependent replication of the rest of the genome during the same round of DNA replication in embryonic and cancer cell systems. Second, the role of this mechanism is thought to be epigenetic; it might promote transcriptional competence of neighboring genes linked to undifferentiated states through the prevention of tethering of involved L1s to the nuclear periphery. From the standpoint of these concepts, several hitherto inexplicable phenomena can be explained. Testing methods for the model are proposed.
LINE-1 (L1) 反转录转座子是哺乳动物基因组中的重复元件。它们能够利用自身编码的逆转录酶 (RT) ,在 RNA 模板上合成 DNA。大量表达的全长 L1 及其 RT 被发现会全局影响早期胚胎和多种癌症的基因表达谱、分化状态和增殖能力,尽管其机制尚不清楚。它们是早期发育进展和建立癌症相关未分化状态所必需的。这就提出了关于 L1 RT 在这些细胞系统中的功能意义的重要问题。大量核 L1 相关逆转录已在小鼠受精卵和二细胞胚胎中被证实发生,并且据推测这种现象与 DNA 复制无关。本综述反驳了这一说法,目的是了解这一现象的本质以及 L1 RT 在早期胚胎和癌症中的作用。重新审视了现有的 L1 数据,并与复制时间、染色质组织和表观遗传学等领域积累的相关发现相结合,提供了强有力的证据支持两个新概念。首先,提出 L1 RNP 驱动的逆转录介导的部分基因组全长 L1 的非典型复制,与胚胎和癌细胞系统中同一轮 DNA 复制期间依赖 DNA 聚合酶的基因组其余部分的复制共存。其次,认为该机制的作用是表观遗传的;它可能通过防止涉及的 L1 与核周缘的束缚,促进与未分化状态相关的邻近基因的转录能力。从这些概念的角度来看,几个迄今无法解释的现象可以得到解释。提出了该模型的测试方法。