Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

The connection between splicing and cancer.

Anabella Srebrow1, Alberto R Kornblihtt

  • 1Departamento de Fisiología, Biología Molecular y Celular, IFIBYNE-CONICET, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Ciudad Universitaria, Pabellón 2, (C1428EHA) Buenos Aires, Argentina.

Journal of Cell Science
|June 22, 2006
PubMed
Summary
This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by
Same author

Spectral demixing enables reliable dual color pair correlation function analysis of viral and cellular proteins in live cells.

Communications biology·2026
Same author

SUMO conjugation to promoter-proximal sequence elements-associated proteins impacts on snRNA transcription.

Proceedings of the National Academy of Sciences of the United States of America·2025
Same author

Light regulates widespread plant alternative polyadenylation through the chloroplast.

Proceedings of the National Academy of Sciences of the United States of America·2024
Same author

Beyond transcription: compelling open questions in plant RNA biology.

The Plant cell·2022
Same author

SUMO conjugation regulates the activity of the Integrator complex.

Nucleic acids research·2022
Same author

The physiology of alternative splicing.

Nature reviews. Molecular cell biology·2022

Alternative splicing generates protein diversity, but errors in this process can lead to diseases like cancer. Precise control of alternative splicing is vital for cellular function and organismal health.

Area of Science:

  • Molecular Biology
  • Genetics
  • Biochemistry

Background:

  • Alternative splicing is a key process for creating diverse proteins from a single gene.
  • Different splice variants can have distinct or opposing biological roles.
  • Precise regulation of alternative splicing is essential for cellular processes in multicellular organisms.

Purpose of the Study:

  • To highlight the critical role of alternative splicing in protein diversity.
  • To explain the pathogenic consequences of dysregulated alternative splicing.
  • To underscore the importance of accurate splicing control in human diseases, particularly cancer.

Main Methods:

  • The study reviews existing literature on alternative splicing mechanisms.
  • It analyzes the impact of mutations in cis-acting splicing elements.

Related Experiment Videos

  • It examines the effects of altered activity of splicing regulators.

    • Main Results:

    • Mutations in splicing elements of genes like LKB1, KIT, CDH17, KLF6, and BRCA1 are linked to disease.
    • Changes in trans-acting splicing regulators affect genes such as Ron, RAC1, and CD44.
    • Dysregulation of alternative splicing can significantly impact human pathogenesis, especially in cancer development and progression.

    Conclusions:

    • Alternative splicing is fundamental for generating functional protein diversity.
    • Errors in alternative splicing, due to mutations or regulatory changes, contribute to human diseases.
    • Maintaining accurate alternative splicing is crucial for preventing diseases like cancer.