Cargando…

Alternative Splicing in Myeloid Malignancies

Alternative RNA splicing (AS) is an essential physiologic function that diversifies the human proteome. AS also has a crucial role during cellular development. In fact, perturbations in RNA-splicing have been implicated in the development of several cancers, including myeloid malignancies. Splicing...

Descripción completa

Detalles Bibliográficos
Autores principales: Gurnari, Carmelo, Pagliuca, Simona, Visconte, Valeria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8698609/
https://www.ncbi.nlm.nih.gov/pubmed/34944660
http://dx.doi.org/10.3390/biomedicines9121844
_version_ 1784620318126505984
author Gurnari, Carmelo
Pagliuca, Simona
Visconte, Valeria
author_facet Gurnari, Carmelo
Pagliuca, Simona
Visconte, Valeria
author_sort Gurnari, Carmelo
collection PubMed
description Alternative RNA splicing (AS) is an essential physiologic function that diversifies the human proteome. AS also has a crucial role during cellular development. In fact, perturbations in RNA-splicing have been implicated in the development of several cancers, including myeloid malignancies. Splicing dysfunction can be independent of genetic lesions or appear as a direct consequence of mutations in components of the RNA-splicing machinery, such as in the case of mutations occurring in splicing factor genes (i.e., SF3B1, SRSF2, U2AF1) and their regulators. In addition, cancer cells exhibit marked gene expression alterations, including different usage of AS isoforms, possibly causing tissue-specific effects and perturbations of downstream pathways. This review summarizes several modalities leading to splicing diversity in myeloid malignancies.
format Online
Article
Text
id pubmed-8698609
institution National Center for Biotechnology Information
language English
publishDate 2021
publisher MDPI
record_format MEDLINE/PubMed
spelling pubmed-86986092021-12-24 Alternative Splicing in Myeloid Malignancies Gurnari, Carmelo Pagliuca, Simona Visconte, Valeria Biomedicines Review Alternative RNA splicing (AS) is an essential physiologic function that diversifies the human proteome. AS also has a crucial role during cellular development. In fact, perturbations in RNA-splicing have been implicated in the development of several cancers, including myeloid malignancies. Splicing dysfunction can be independent of genetic lesions or appear as a direct consequence of mutations in components of the RNA-splicing machinery, such as in the case of mutations occurring in splicing factor genes (i.e., SF3B1, SRSF2, U2AF1) and their regulators. In addition, cancer cells exhibit marked gene expression alterations, including different usage of AS isoforms, possibly causing tissue-specific effects and perturbations of downstream pathways. This review summarizes several modalities leading to splicing diversity in myeloid malignancies. MDPI 2021-12-06 /pmc/articles/PMC8698609/ /pubmed/34944660 http://dx.doi.org/10.3390/biomedicines9121844 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Gurnari, Carmelo
Pagliuca, Simona
Visconte, Valeria
Alternative Splicing in Myeloid Malignancies
title Alternative Splicing in Myeloid Malignancies
title_full Alternative Splicing in Myeloid Malignancies
title_fullStr Alternative Splicing in Myeloid Malignancies
title_full_unstemmed Alternative Splicing in Myeloid Malignancies
title_short Alternative Splicing in Myeloid Malignancies
title_sort alternative splicing in myeloid malignancies
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8698609/
https://www.ncbi.nlm.nih.gov/pubmed/34944660
http://dx.doi.org/10.3390/biomedicines9121844
work_keys_str_mv AT gurnaricarmelo alternativesplicinginmyeloidmalignancies
AT pagliucasimona alternativesplicinginmyeloidmalignancies
AT viscontevaleria alternativesplicinginmyeloidmalignancies