The physiology of alternative splicing.
Nat Rev Mol Cell Biol
; 24(4): 242-254, 2023 04.
Article
en En
| MEDLINE
| ID: mdl-36229538
ABSTRACT
Alternative splicing is a substantial contributor to the high complexity of transcriptomes of multicellular eukaryotes. In this Review, we discuss the accumulated evidence that most of this complexity is reflected at the protein level and fundamentally shapes the physiology and pathology of organisms. This notion is supported not only by genome-wide analyses but, mainly, by detailed studies showing that global and gene-specific modulations of alternative splicing regulate highly diverse processes such as tissue-specific and species-specific cell differentiation, thermal regulation, neuron self-avoidance, infrared sensing, the Warburg effect, maintenance of telomere length, cancer and autism spectrum disorders (ASD). We also discuss how mastering the control of alternative splicing paved the way to clinically approved therapies for hereditary diseases.
Texto completo:
1
Base de datos:
MEDLINE
Asunto principal:
Empalme Alternativo
/
Estudio de Asociación del Genoma Completo
Idioma:
En
Revista:
Nat Rev Mol Cell Biol
Asunto de la revista:
BIOLOGIA MOLECULAR
Año:
2023
Tipo del documento:
Article