Article ; Online: The physiology of alternative splicing.
Nature reviews. Molecular cell biology
2022 Volume 24, Issue 4, Page(s) 242–254
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 ... ...
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. |
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MeSH term(s) | Alternative Splicing/genetics ; Genome-Wide Association Study ; Genome ; Transcriptome ; Neurons/metabolism |
Language | English |
Publishing date | 2022-10-13 |
Publishing country | England |
Document type | Journal Article ; Review ; Research Support, Non-U.S. Gov't |
ZDB-ID | 2031313-5 |
ISSN | 1471-0080 ; 1471-0072 |
ISSN (online) | 1471-0080 |
ISSN | 1471-0072 |
DOI | 10.1038/s41580-022-00545-z |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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