Sorbonne Université, Institut de Biologie Paris Seine, Centre National de la Recherche Scientifique, Transgenerational Epigenetics & Small RNA Biology, Laboratoire de Biologie du Développement, 75005 Paris, France.
Genes (Basel). 2019 Feb 5;10(2):117. doi: 10.3390/genes10020117.
Nm (2'-O-methylation) is one of the most common modifications in the RNA world. It has the potential to influence the RNA molecules in multiple ways, such as structure, stability, and interactions, and to play a role in various cellular processes from epigenetic gene regulation, through translation to self versus non-self recognition. Yet, building scientific knowledge on the Nm matter has been hampered for a long time by the challenges in detecting and mapping this modification. Today, with the latest advancements in the area, more and more Nm sites are discovered on RNAs (tRNA, rRNA, mRNA, and small non-coding RNA) and linked to normal or pathological conditions. This review aims to synthesize the Nm-associated human diseases known to date and to tackle potential indirect links to some other biological defects.
Nm（2'-O-甲基化）是 RNA 世界中最常见的修饰之一。它有可能通过影响 RNA 分子的结构、稳定性和相互作用等多种方式，在从表观遗传基因调控到翻译再到自我与非自我识别的各种细胞过程中发挥作用。然而，由于检测和绘制这种修饰的挑战，长期以来，Nm 物质的科学知识的建立一直受到阻碍。如今，随着该领域的最新进展，越来越多的 Nm 位点在 RNA（tRNA、rRNA、mRNA 和小非编码 RNA）上被发现，并与正常或病理条件相关联。本综述旨在综合目前已知的与 Nm 相关的人类疾病，并探讨与其他一些生物学缺陷的潜在间接联系。
