The RNA modification landscape in human disease

Abstract

RNA modifications have been historically considered as fine-tuning chemo-structural features of infrastructural RNAs, such as rRNAs, tRNAs and snoRNAs. This view has changed dramatically in the recent years, to a large extent as a result of systematic efforts to map and quantify various RNA modifications in a transcriptome-wide manner, revealing that RNA modifications are reversible, dynamically regulated, far more widespread than originally thought, and involved in major biological processes, including cell differentiation, sex determination and stress responses. Here we summarize the state of knowledge and provide a catalogue of RNA modifications and their links to neurological disorders, cancers and other diseases. With the advent of direct RNA sequencing technologies, we expect that this catalogue will help prioritize those RNA modifications for transcriptome-wide maps.