Recommendations for detection, validation, and evaluation of RNA editing events in cardiovascular and neurological/neurodegenerative diseases

RNA editing, a common and potentially highly functional form of RNA modification, encompasses two different RNA modifications, namely adenosine to inosine (A-to-I) and cytidine to uridine (C-to-U) editing. As inosines are interpreted as guanosines by the cellular machinery, both A-to-I and C-to-U ed...

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Main Authors: Korina Karagianni, Alessia Bibi, Alisia Madé, Shubhra Acharya, Mikko Parkkonen, Teodora Barbalata, Prashant K. Srivastava, David de Gonzalo-Calvo, Constanza Emanueli, Fabio Martelli, Yvan Devaux, Dimitra Dafou, A. Yaël Nossent
Format: Article
Language:English
Published: Elsevier 2024-03-01
Series:Molecular Therapy: Nucleic Acids
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2162253123003037
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author Korina Karagianni
Alessia Bibi
Alisia Madé
Shubhra Acharya
Mikko Parkkonen
Teodora Barbalata
Prashant K. Srivastava
David de Gonzalo-Calvo
Constanza Emanueli
Fabio Martelli
Yvan Devaux
Dimitra Dafou
A. Yaël Nossent
author_facet Korina Karagianni
Alessia Bibi
Alisia Madé
Shubhra Acharya
Mikko Parkkonen
Teodora Barbalata
Prashant K. Srivastava
David de Gonzalo-Calvo
Constanza Emanueli
Fabio Martelli
Yvan Devaux
Dimitra Dafou
A. Yaël Nossent
author_sort Korina Karagianni
collection DOAJ
description RNA editing, a common and potentially highly functional form of RNA modification, encompasses two different RNA modifications, namely adenosine to inosine (A-to-I) and cytidine to uridine (C-to-U) editing. As inosines are interpreted as guanosines by the cellular machinery, both A-to-I and C-to-U editing change the nucleotide sequence of the RNA. Editing events in coding sequences have the potential to change the amino acid sequence of proteins, whereas editing events in noncoding RNAs can, for example, affect microRNA target binding. With advancing RNA sequencing technology, more RNA editing events are being discovered, studied, and reported. However, RNA editing events are still often overlooked or discarded as sequence read quality defects. With this position paper, we aim to provide guidelines and recommendations for the detection, validation, and follow-up experiments to study RNA editing, taking examples from the fields of cardiovascular and brain disease. We discuss all steps, from sample collection, storage, and preparation, to different strategies for RNA sequencing and editing-sensitive data analysis strategies, to validation and follow-up experiments, as well as potential pitfalls and gaps in the available technologies. This paper may be used as an experimental guideline for RNA editing studies in any disease context.
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spelling doaj.art-02ae5e2b9de447f4986105af97021dfe2023-12-20T07:34:15ZengElsevierMolecular Therapy: Nucleic Acids2162-25312024-03-01351102085Recommendations for detection, validation, and evaluation of RNA editing events in cardiovascular and neurological/neurodegenerative diseasesKorina Karagianni0Alessia Bibi1Alisia Madé2Shubhra Acharya3Mikko Parkkonen4Teodora Barbalata5Prashant K. Srivastava6David de Gonzalo-Calvo7Constanza Emanueli8Fabio Martelli9Yvan Devaux10Dimitra Dafou11A. Yaël Nossent12Department of Genetics, Development, and Molecular Biology, School of Biology, Aristotle University of Thessaloniki, 541 24 Thessaloniki, GreeceMolecular Cardiology Laboratory, IRCCS Policlinico San Donato, Via Morandi 30, San Donato Milanese, 20097 Milan, Italy; Department of Biosciences, University of Milan, Milan, ItalyMolecular Cardiology Laboratory, IRCCS Policlinico San Donato, Via Morandi 30, San Donato Milanese, 20097 Milan, ItalyCardiovascular Research Unit, Luxembourg Institute of Health, Strassen, Luxembourg; Faculty of Science, Technology and Medicine, University of Luxembourg, Esch-sur-alzette, LuxembourgResearch Unit of Biomedicine and Internal Medicine, Department of Pharmacology and Toxicology, University of Oulu, Oulu, FinlandLipidomics Department, Institute of Cellular Biology and Pathology “Nicolae Simionescu” of the Romanian Academy, 8, B. P. Hasdeu Street, 050568 Bucharest, RomaniaNational Heart & Lung Institute, Imperial College London, London, UKTranslational Research in Respiratory Medicine, University Hospital Arnau de Vilanova and Santa Maria, IRBLleida, Lleida, Spain; CIBER of Respiratory Diseases (CIBERES), Institute of Health Carlos III, Madrid, SpainNational Heart & Lung Institute, Imperial College London, London, UKMolecular Cardiology Laboratory, IRCCS Policlinico San Donato, Via Morandi 30, San Donato Milanese, 20097 Milan, ItalyCardiovascular Research Unit, Luxembourg Institute of Health, Strassen, LuxembourgDepartment of Genetics, Development, and Molecular Biology, School of Biology, Aristotle University of Thessaloniki, 541 24 Thessaloniki, GreeceDepartment of Surgery, Leiden University Medical Center, Leiden, the Netherlands; Department of Nutrition, Exercise and Sports (NEXS), University of Copenhagen, Copenhagen, Denmark; Corresponding author: A. Yaël Nossent, Department of Surgery, Leiden University Medical Center, Leiden, the Netherlands.RNA editing, a common and potentially highly functional form of RNA modification, encompasses two different RNA modifications, namely adenosine to inosine (A-to-I) and cytidine to uridine (C-to-U) editing. As inosines are interpreted as guanosines by the cellular machinery, both A-to-I and C-to-U editing change the nucleotide sequence of the RNA. Editing events in coding sequences have the potential to change the amino acid sequence of proteins, whereas editing events in noncoding RNAs can, for example, affect microRNA target binding. With advancing RNA sequencing technology, more RNA editing events are being discovered, studied, and reported. However, RNA editing events are still often overlooked or discarded as sequence read quality defects. With this position paper, we aim to provide guidelines and recommendations for the detection, validation, and follow-up experiments to study RNA editing, taking examples from the fields of cardiovascular and brain disease. We discuss all steps, from sample collection, storage, and preparation, to different strategies for RNA sequencing and editing-sensitive data analysis strategies, to validation and follow-up experiments, as well as potential pitfalls and gaps in the available technologies. This paper may be used as an experimental guideline for RNA editing studies in any disease context.http://www.sciencedirect.com/science/article/pii/S2162253123003037MT: RNA/DNA editingRNA editingA-to-I editingC-to-U editingmethodologycardiovascular disease
spellingShingle Korina Karagianni
Alessia Bibi
Alisia Madé
Shubhra Acharya
Mikko Parkkonen
Teodora Barbalata
Prashant K. Srivastava
David de Gonzalo-Calvo
Constanza Emanueli
Fabio Martelli
Yvan Devaux
Dimitra Dafou
A. Yaël Nossent
Recommendations for detection, validation, and evaluation of RNA editing events in cardiovascular and neurological/neurodegenerative diseases
Molecular Therapy: Nucleic Acids
MT: RNA/DNA editing
RNA editing
A-to-I editing
C-to-U editing
methodology
cardiovascular disease
title Recommendations for detection, validation, and evaluation of RNA editing events in cardiovascular and neurological/neurodegenerative diseases
title_full Recommendations for detection, validation, and evaluation of RNA editing events in cardiovascular and neurological/neurodegenerative diseases
title_fullStr Recommendations for detection, validation, and evaluation of RNA editing events in cardiovascular and neurological/neurodegenerative diseases
title_full_unstemmed Recommendations for detection, validation, and evaluation of RNA editing events in cardiovascular and neurological/neurodegenerative diseases
title_short Recommendations for detection, validation, and evaluation of RNA editing events in cardiovascular and neurological/neurodegenerative diseases
title_sort recommendations for detection validation and evaluation of rna editing events in cardiovascular and neurological neurodegenerative diseases
topic MT: RNA/DNA editing
RNA editing
A-to-I editing
C-to-U editing
methodology
cardiovascular disease
url http://www.sciencedirect.com/science/article/pii/S2162253123003037
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