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Synapse
February 24, 2022Genes152 citationsOpen Access

Alternative Splicing and Isoforms: From Mechanisms to Diseases

QLQi LiuLFLeiming FangCWChengjun Wu

Key Points

  • This review aims to examine the role of alternative splicing in protein diversity and its implications for various diseases.
  • Reviewed existing literature on the mechanisms of alternative splicing.
  • Examined case studies linking splicing isoforms to specific diseases.
  • Summarized current treatment methods targeting splicing activities.
  • Identified key splicing factors that regulate alternative splicing linked to disease development.
  • Showed specific examples of how splicing isoforms affect physiological functions related to diseases.
  • Discussed potential therapeutic approaches aimed at modulating splicing activities.

Abstract

Alternative splicing of pre-mRNA is a key mechanism for increasing the complexity of proteins in humans, causing a diversity of expression of transcriptomes and proteomes in a tissue-specific manner. Alternative splicing is regulated by a variety of splicing factors. However, the changes and errors of splicing regulation caused by splicing factors are strongly related to many diseases, something which represents one of this study's main interests. Further understanding of alternative splicing regulation mediated by cellular factors is also a prospective choice to develop specific drugs for targeting the dynamic RNA splicing process. In this review, we firstly concluded the basic principle of alternative splicing. Afterwards, we showed how splicing isoforms affect physiological activities through specific disease examples. Finally, the available treatment methods relative to adjusting splicing activities have been summarized.

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Cite This Study

Liu et al. (2022) studied this question.

synapsesocial.com/papers/69d732158e958094d1b8a358https://doi.org/10.3390/genes13030401
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Also Consider

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  1. 1The alternative splicing of tau exon 10 and its regulatory proteins CLK2 and TRA2‐BETA1 changes in sporadic Alzheimer's disease2005 · 145 citations
  2. 2An alternatively spliced cyclin D1 isoform, cyclin D1b, is a nuclear oncogene.2003 · 240 citations
  3. 3Muscle-specific Exonic Splicing Silencer for Exon Exclusion in Human ATP Synthase γ-Subunit Pre-mRNA2002 · 32 citations
  4. 4Weak definition ofIKBKAPexon 20 leads to aberrant splicing in familial dysautonomia2006 · 48 citations
  5. 5Alternative splicing as a biomarker and potential target for drug discovery2015 · 99 citations