The importance of pseudouridylation: human disorders related to the fifth nucleoside

Abstract

Pseudouridylation is one of the most abundant RNA modifications in eukaryotes, making pseudouridine known as the “fifth nucleoside.” This highly conserved alteration affects all non-coding and coding RNA types. Its role and importance have been increasingly widely researched, especially considering that its absence or damage leads to serious hereditary diseases. Here, we summarize the human genetic disorders described to date that are related to the participants of the pseudouridylation process.

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“…This is thought to be the most abundant RNA modification, mainly accumulating in rRNAs and tRNAs [ 26 ]. An RNA-dependent pseudouridine synthase (PUS) such as PUS1/3/7 in humans and centromere-binding factor 5 (Cbf5) in yeast usually catalyze this modification [ 27 , 28 ]. Despite limited investigations on the Ψ modification in biological mRNAs, its ability to prevent pre-mRNA splicing, maintain mRNA stability, and increase mRNA translation is thought to result in improper protein expression [ 9 ].…”