Epitranscriptomics for Biomedical Discovery

Abstract

Epitranscriptomics is a newly burgeoning ield pertaining to the complete delineation and elucidation of chemical modiications of nucleotides found within all classes of RNA that do not involve a change in the ribonucleotide sequence. More than 140 diverse and distinct nucleotide modiications have been identiied in RNA, dwaring the number of nucleotide modiications found in DNA. The majority of epitranscriptomic modiications have been identiied in ribosomal RNA (rRNA), transfer RNA (tRNA), and small nuclear RNA (snRNA). However, in total, the knowledge of the occurrence, and speciically the function, of RNA modiications remains scarce. Recently, the rapid advancement of next-generation sequencing and mass spectrometry technologies have allowed for the identiication and functional characterization of nucleotide modiications in both protein-coding and non-coding RNA on a global, transcriptome scale. In this chapter, we will introduce the concepts of nucleotide modiication, summarize transcriptome-wide RNA modiication mapping techniques, highlight recent studies exploring the functions of RNA modiications and their association to disease, and inally ofer insight into the future progression of epitranscriptomics.