Journal
NATURE REVIEWS GENETICS
Volume 24, Issue 4, Pages 251-269Publisher
NATURE PORTFOLIO
DOI: 10.1038/s41576-022-00556-8
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This paper reviews the recent progress in understanding the splicing mechanism, discusses the challenges in predicting splice sites, understanding the regulation of splicing, and utilizing this knowledge for exploring gene function and disease treatment.
The removal of introns from mRNA precursors and its regulation by alternative splicing are key for eukaryotic gene expression and cellular function, as evidenced by the numerous pathologies induced or modified by splicing alterations. Major recent advances have been made in understanding the structures and functions of the splicing machinery, in the description and classification of physiological and pathological isoforms and in the development of the first therapies for genetic diseases based on modulation of splicing. Here, we review this progress and discuss important remaining challenges, including predicting splice sites from genomic sequences, understanding the variety of molecular mechanisms and logic of splicing regulation, and harnessing this knowledge for probing gene function and disease aetiology and for the design of novel therapeutic approaches.
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