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A mark of disease: How mRNA modifications shape genetic and acquired pathologies
Department of Cellular, Computational and Integrative Biology (CIBIO), University of Trento, Trento, Italy; The Epitran Cost Action Consortium, COST Action CA16120.
The Epitran Cost Action Consortium, COST Action CA16120; Department of Bioengineering, Gebze Technical University, Kocaeli, Turkey.
Umeå University, Faculty of Medicine, Wallenberg Centre for Molecular Medicine at Umeå University (WCMM). The Epitran Cost Action Consortium, COST Action CA16120.ORCID iD: 0000-0002-5389-244X
The Epitran Cost Action Consortium, COST Action CA16120; Core Research Laboratory, ISPRO-Institute for Cancer Research, Prevention and Clinical Network, Firenze, Italy; Department of Medical Biotechnologies, Università di Siena, Siena, Italy.
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2021 (English)In: RNA: A publication of the RNA Society, ISSN 1355-8382, E-ISSN 1469-9001, Vol. 27, no 4, p. 367-389Article, review/survey (Refereed) Published
Abstract [en]

RNA modifications have recently emerged as a widespread and complex facet of gene expression regulation. Counting more than 170 distinct chemical modifications with far-reaching implications for RNA fate, they are collectively referred to as the epitranscriptome. These modifications can occur in all RNA species, including messenger RNAs (mRNAs) and noncoding RNAs (ncRNAs). In mRNAs the deposition, removal, and recognition of chemical marks by writers, erasers and readers influence their structure, localization, stability, and translation. In turn, this modulates key molecular and cellular processes such as RNA metabolism, cell cycle, apoptosis, and others. Unsurprisingly, given their relevance for cellular and organismal functions, alterations of epitranscriptomic marks have been observed in a broad range of human diseases, including cancer, neurological and metabolic disorders. Here, we will review the major types of mRNA modifications and editing processes in conjunction with the enzymes involved in their metabolism and describe their impact on human diseases. We present the current knowledge in an updated catalog. We will also discuss the emerging evidence on the crosstalk of epitranscriptomic marks and what this interplay could imply for the dynamics of mRNA modifications. Understanding how this complex regulatory layer can affect the course of human pathologies will ultimately lead to its exploitation toward novel epitranscriptomic therapeutic strategies.

Place, publisher, year, edition, pages
Cold Spring Harbor Laboratory Press (CSHL), 2021. Vol. 27, no 4, p. 367-389
Keywords [en]
Cancer, Epitranscriptomics, Human disease, mRNA, Posttranscriptional regulation of gene expression, RNA modifications
National Category
Cell and Molecular Biology Biochemistry and Molecular Biology
Identifiers
URN: urn:nbn:se:umu:diva-182007DOI: 10.1261/rna.077271.120ISI: 000629533500002Scopus ID: 2-s2.0-85103017419OAI: oai:DiVA.org:umu-182007DiVA, id: diva2:1542061
Available from: 2021-04-06 Created: 2021-04-06 Last updated: 2023-09-05Bibliographically approved

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Groza, PaulaAguilo, Francesca

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