The physiology of alternative splicing

被引：186

作者：

Marasco, Luciano E. ^{[1
,2
,3
]}

Kornblihtt, Alberto R. ^{[1
,2
]}

机构：

[1] Univ Buenos Aires UBA, Fac Ciencias Exactas & Nat, Dept Fisiol Biol Mol & Celular, Buenos Aires, DF, Argentina

[2] Univ Buenos Aires UBA, Fac Ciencias Exactas & Nat, CONICET UBA, Inst Fisiol Biol Mol & Neurociencias IFIBYNE, Buenos Aires, DF, Argentina

[3] Univ Oxford, Sir William Dunn Sch Pathol, Oxford, England

来源：

NATURE REVIEWS MOLECULAR CELL BIOLOGY | 2023年 / 24卷 / 04期

关键词：

SPINAL MUSCULAR-ATROPHY; SURVIVAL MOTOR-NEURON; MESSENGER-RNA DECAY; GENE; EXON; OLIGONUCLEOTIDE; TRANSCRIPTION; TRANSLATION; LANDSCAPE; PROTEINS;

D O I：

10.1038/s41580-022-00545-z

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

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.

引用

页码：242 / 254

页数：13

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