Department of Biosciences, Biotechnology and Biopharmaceutics, University of Bari, Bari, Italy.
Institute of Biomembranes, Bioenergetics and Molecular Biotechnologies (IBIOM), National Research Council, Bari, Italy.
Methods Mol Biol. 2021;2284:467-480. doi: 10.1007/978-1-0716-1307-8_25.
A-to-I RNA editing in humans plays a relevant role since it can influence gene expression and increase proteome diversity. In addition, its deregulation has been linked to a variety of human diseases, including neurological disorders and cancer.In the last decade, massive transcriptome sequencing through the RNAseq technology has dramatically improved the investigation of RNA editing at single nucleotide resolution. Nowadays, different bioinformatics resources to discover and/or collect A-to-I events have been released. Hereafter, we initially provide an overview of the state-of-the-art RNA editing databases and, then, we focus on REDIportal, the largest collection of A-to-I events with more than 4.5 million sites from 2660 humans GTEx samples.
在人类中，A-to-I RNA 编辑发挥着重要作用，因为它可以影响基因表达并增加蛋白质组的多样性。此外，其失调与多种人类疾病有关，包括神经紊乱和癌症。在过去的十年中，通过 RNAseq 技术进行的大规模转录组测序极大地提高了对单核苷酸分辨率的 RNA 编辑的研究。如今，已经发布了不同的生物信息学资源来发现和/或收集 A-to-I 事件。在此基础上，我们首先概述了 RNA 编辑数据库的最新进展，然后重点介绍了 REDIportal，这是最大的 A-to-I 事件集合，包含来自 2660 个人类 GTEx 样本的超过 450 万个位点。
