Exon skipping

Definition

Exon skipping is a form of alternative splicing where specific exons are omitted from the mature mRNA transcript. This process can lead to the production of protein isoforms that lack certain functional domains, thereby influencing gene expression and protein diversity. Exon skipping is significant in understanding how genes can produce multiple protein variants, affecting cellular functions and responses.

5 Must Know Facts For Your Next Test

1. Exon skipping can lead to the production of truncated proteins that may have altered or lost functionality compared to their full-length counterparts.
2. This mechanism plays a crucial role in developmental processes and can be regulated by various factors such as splicing factors and cellular conditions.
3. Exon skipping is particularly relevant in genetic diseases, as mutations affecting splicing can lead to pathogenic isoforms that contribute to disease phenotypes.
4. Researchers often utilize exon skipping in therapeutic approaches, especially in conditions like Duchenne muscular dystrophy, to restore functional protein production.
5. Detecting exon skipping events is essential for understanding gene regulation and its implications in both normal physiology and disease states.

Review Questions

• How does exon skipping contribute to the diversity of protein isoforms produced by a single gene?
  • Exon skipping allows specific exons to be omitted during RNA splicing, leading to the generation of different mRNA transcripts from the same gene. By excluding certain exons, the resulting protein isoforms may have distinct functional properties or may lack certain functional domains. This flexibility enhances protein diversity and enables cells to adapt to varying physiological conditions.
• Discuss the implications of exon skipping in genetic diseases and potential therapeutic strategies that involve this mechanism.
  • Exon skipping has significant implications in genetic diseases, especially those caused by mutations that affect splicing. For example, in Duchenne muscular dystrophy, certain exons can be skipped to create a shorter but functional version of dystrophin, which can mitigate symptoms. Therapeutic strategies are being developed to promote exon skipping through the use of antisense oligonucleotides, aiming to restore proper protein function and improve patient outcomes.
• Evaluate the role of splicing factors in regulating exon skipping and how their dysregulation might contribute to disease.
  • Splicing factors play a critical role in determining which exons are included or skipped during the splicing process. Their activity can be influenced by various cellular signals, impacting the overall splicing outcome. Dysregulation of these factors can lead to aberrant splicing patterns, resulting in harmful protein isoforms associated with diseases such as cancer and neurodegenerative disorders. Understanding these mechanisms offers insights into potential therapeutic interventions targeting splicing regulation.

Related terms

Alternative splicing: A regulatory mechanism that allows a single gene to produce multiple mRNA transcripts by including or excluding specific exons.

Isoforms: Different versions of proteins that arise from the same gene due to variations in splicing or post-translational modifications.

Spliceosome: A complex molecular machine responsible for the removal of introns and the joining of exons during the process of RNA splicing.