Alternative splicing as a biomarker and potential target for drug discovery

Kai-qin Le, Bellur S Prabhakar, Wan-jin Hong, Liang-cheng Li
DOI: 10.1038/aps.2015.43


Alternative splicing is a key process of multi-exonic gene expression during pre-mRNA maturation. In this process, particular exons of a gene will be included within or excluded from the final matured mRNA, and the resulting transcripts generate diverse protein isoforms. Recent evidence demonstrates that approximately 95% of human genes with multiple exons undergo alternative splicing during pre-mRNA maturation. Thus, alternative splicing plays a critical role in physiological processes and cell development programs, and.dysregulation of alternative splicing is highly associated with human diseases, such as cancer, diabetes and neurodegenerative diseases. In this review, we discuss the regulation of alternative splicing, examine the relationship between alternative splicing and human diseases, and describe several approaches that modify alternative splicing, which could aid in human disease diagnosis and therapy.
Keywords: mRNA; alternative splicing; human diseases; cancer; diabetes; neurodegenerative diseases; biomarker; drug discovery

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