The RNA modification landscape in human disease (original) (raw)

1. Julia Tran1,
2. Martin A. Smith1,2,
3. Nicole Schonrock1,3,
4. John S. Mattick1,2 and
5. Eva Maria Novoa1,2,4,5
6. 1Garvan Institute of Medical Research, Darlinghurst, 2010 NSW, Australia
7. 2St. Vincent's Clinical School, Faculty of Medicine, University of New South Wales, Kensington NSW 2052, Australia
8. 3Genome.One, Darlinghurst, 2010 NSW, Australia
9. 4Computer Science and Artificial Intelligence Laboratory, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139, USA
10. 5Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02139, USA
11. Corresponding authors: e.novoa{at}garvan.org.au, j.mattick{at}garvan.org.au

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 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 catalog 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 catalog will help prioritize those RNA modifications for transcriptome-wide maps.

• RNA modification

• epitranscriptome

• disease

• detection methods

• direct RNA sequencing

• © 2017 Jonkhout et al.; Published by Cold Spring Harbor Laboratory Press for the RNA Society

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