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A New Chapter in Genetic Medicine: RNA Editing and its Role in Disease Pathogenesis
Trends in Molecular Medicine ( IF 12.8 ) Pub Date : 2018-02-23 , DOI: 10.1016/j.molmed.2018.01.002
Khatuna Gagnidze , Violeta Rayon-Estrada , Sheila Harroch , Karen Bulloch , F. Nina Papavasiliou

The transfer of genomic information from DNA to mRNA to protein usually occurs with high fidelity, but can also be subverted by a programmed RNA sequence alteration termed ‘RNA editing’, involving deamination of adenosine to inosine (decoded as guanosine), or of cytosine to uracil. These sequence changes can lead to cellular heterogeneity by generating variable sets of transcripts within otherwise identical cells. Recent studies have demonstrated that editing is most prevalent in cells and tissues with high propensity for plasticity. Within those, RNA editing reproducibly targets transcripts of related function, altering the outcomes of entire pathways at once. In ongoing work, changes in patterns of editing have been correlated with neuronal disease pathogenesis, suggesting that RNA editing harbors diagnostic potential.



中文翻译:

基因医学的新篇章:RNA编辑及其在疾病发病机制中的作用

基因组信息从DNA到mRNA到蛋白质的转移通常以高保真度进行,但是也可以通过称为“ RNA编辑”的程序化RNA序列改变来进行颠覆,这涉及将腺苷脱氨为肌苷(解码为鸟苷),或将胞嘧啶脱氨为氨基酸。尿嘧啶。这些序列变化可通过在其他相同细胞内生成可变的转录本集合,导致细胞异质性。最近的研究表明,编辑在具有高可塑性的细胞和组织中最为普遍。在其中,RNA编辑可重复地靶向相关功能的转录本,从而立即改变整个途径的结果。在正在进行的工作中,编辑模式的改变与神经元疾病的发病机制相关,这表明RNA编辑具有诊断潜力。

更新日期:2018-02-23
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