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.

Gurnari, C., Pagliuca, S., Visconte, V. (2021). Alternative Splicing in Myeloid Malignancies. BIOMEDICINES, 9(12), 1844 [10.3390/biomedicines9121844].

Alternative Splicing in Myeloid Malignancies

Gurnari, Carmelo
Writing – Original Draft Preparation
;
2021-12-06

Abstract

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.
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/15
English
RNA-splicing
cancer
therapies
Gurnari, C., Pagliuca, S., Visconte, V. (2021). Alternative Splicing in Myeloid Malignancies. BIOMEDICINES, 9(12), 1844 [10.3390/biomedicines9121844].
Gurnari, C; Pagliuca, S; Visconte, V
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/311880
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