A New Chapter in Genetic Medicine: RNA Editing and its Role in Disease Pathogenesis

作者：Gagnidze Khatuna; Rayon Estrada Violeta; Harroch Sheila; Bulloch Karen^*; Papavasiliou F Nina^*

来源：Trends in Molecular Medicine, 2018, 24(3): 294-303.

DOI：10.1016/j.molmed.2018.01.002

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.

• 出版日期2018-3