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癌症中 RNA 修饰机制的遗传和表观遗传缺陷。

Genetic and epigenetic defects of the RNA modification machinery in cancer.

机构信息

Josep Carreras Leukemia Research Institute (IJC), Badalona, Barcelona, Catalonia, Spain.

Josep Carreras Leukemia Research Institute (IJC), Badalona, Barcelona, Catalonia, Spain; Centro de Investigacion Biomedica en Red Cancer (CIBERONC), 28029 Madrid, Spain; Institucio Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Catalonia, Spain; Physiological Sciences Department, School of Medicine and Health Sciences, University of Barcelona (UB), Barcelona, Catalonia, Spain.

出版信息

Trends Genet. 2023 Jan;39(1):74-88. doi: 10.1016/j.tig.2022.10.004. Epub 2022 Nov 12.

Abstract

Cancer was initially considered to be an exclusively genetic disease, but an interplay of dysregulated genetic and epigenetic mechanisms is now known to contribute to the cancer phenotype. More recently, chemical modifications of RNA molecules - the so-called epitranscriptome - have been found to regulate various aspects of RNA function and homeostasis. Specific enzymes, known as RNA-modifying proteins (RMPs), are responsible for depositing, removing, and reading chemical modifications in RNA. Intensive investigations in the epitranscriptomic field in recent years, in conjunction with great technological advances, have revealed the critical role of RNA modifications in regulating numerous cellular pathways. Furthermore, growing evidence has revealed that RNA modification machinery is often altered in human cancers, highlighting the enormous potential of RMPs as pharmacological targets or diagnostic markers.

摘要

癌症最初被认为是一种纯粹的遗传疾病,但现在已知失调的遗传和表观遗传机制相互作用有助于癌症表型的形成。最近,人们发现 RNA 分子的化学修饰——所谓的转录组修饰——可以调节 RNA 功能和动态平衡的各个方面。特定的酶,即 RNA 修饰蛋白 (RMPs),负责在 RNA 中沉积、去除和读取化学修饰。近年来,在转录组修饰领域的深入研究,结合了巨大的技术进步,揭示了 RNA 修饰在调节众多细胞途径中的关键作用。此外,越来越多的证据表明,RNA 修饰机制在人类癌症中经常发生改变,这凸显了 RMPs 作为药物靶点或诊断标志物的巨大潜力。

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