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Genes 2017, 8(11), 301; doi:10.3390/genes8110301

RNA Pseudouridylation in Physiology and Medicine: For Better and for Worse

Department of Experimental, Diagnostic and Specialty Medicine, Alma Mater Studiorum-University of Bologna, Via Massarenti 9, 40138 Bologna, Italy
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Received: 6 September 2017 / Revised: 25 October 2017 / Accepted: 25 October 2017 / Published: 1 November 2017
(This article belongs to the Special Issue RNA Modification)
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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. View Full-Text
Keywords: RNA modification; pseudouridine synthase; dyskerin; non-coding RNA; gene expression control; cancer; inherited disorders RNA modification; pseudouridine synthase; dyskerin; non-coding RNA; gene expression control; cancer; inherited disorders
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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Penzo, M.; Guerrieri, A.N.; Zacchini, F.; Treré, D.; Montanaro, L. RNA Pseudouridylation in Physiology and Medicine: For Better and for Worse. Genes 2017, 8, 301.

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