Abstract
Pseudouridine is the most abundant modification found in RNA. Today, thanks to next-generation sequencing techniques used in the detection of RNA modifications, pseudouridylation sites have been described in most eukaryotic RNA classes. In the present review, we will first consider the available information on the functional roles of pseudouridine(s) in different RNA species. We will then focus on how alterations in the pseudouridylation process may be connected with a series of human pathologies, including inherited disorders, cancer, diabetes, and viral infections. Finally, we will discuss how the availability of novel technical approaches are likely to increase the knowledge in this field.
Highlights
A considerable number (>100) of different RNA modifications have been described [1]
The presence of Ψ was first described in ribosomal RNA and transfer RNA [3], and subsequently in small nuclear RNAs [4,5,6]
Thanks to the next-generation sequencing techniques applied for the detection of RNA modifications, updated databases have reported the presence of more than 9500 putative Ψ modification sites in most RNA classes of mammals and yeast—including mitochondrial transfer RNA (tRNA)—(Mt-tRNAs), small Cajal Body-specific RNAs, small nucleolar RNAs, microRNAs, long intergenic non-coding
Summary
Pseudouridine (Ψ) is the most frequent and the first to be discovered —more than 50 years ago [2] For these reasons it was named the “fifth RNA nucleotide” [3]. The presence of Ψ was first described in ribosomal RNA (rRNA) and transfer RNA (tRNA) [3], and subsequently in small nuclear RNAs (snRNA) [4,5,6]. Thanks to the next-generation sequencing techniques applied for the detection of RNA modifications, updated databases have reported the presence of more than 9500 putative Ψ modification sites in most RNA classes of mammals and yeast—including mitochondrial tRNAs—(Mt-tRNAs), small Cajal Body-specific RNAs (scaRNAs), small nucleolar RNAs (snoRNAs), microRNAs (miRNAs), long intergenic non-coding. This review focuses on these aspects of pseudouridylation, with particular attention to what has been reported in mammalian or human models, or both
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