Epitranscriptomics is a newly burgeoning field pertaining to the complete delineation and elucidation of chemical modifications 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 modifications have been identified in RNA, dwarfing the number of nucleotide modifications found in DNA. The majority of epitranscriptomic modifications have been identified in ribosomal RNA (rRNA), transfer RNA (tRNA), and small nuclear RNA (snRNA). However, in total, the knowledge of the occurrence, and specifically the function, of RNA modifications remains scarce. Recently, the rapid advancement of next‐generation sequencing and mass spectrometry technologies have allowed for the identification and functional characterization of nucleotide modifications in both protein‐coding and non‐coding RNA on a global, transcriptome scale. In this chapter, we will introduce the concepts of nucleotide modification, summarize transcriptome‐wide RNA modification mapping techniques, highlight recent studies exploring the functions of RNA modifications and their association to disease, and finally offer insight into the future progression of epitranscriptomics.
Part of the book: Applications of RNA-Seq and Omics Strategies