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

How do synonymous mutations affect fitness?

Joanna L Parmley1, Laurence D Hurst

  • 1Department of Biology and Biochemistry, University of Bath, Bath, UK.

Bioessays : News and Reviews in Molecular, Cellular and Developmental Biology
|May 18, 2007
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

Why do we have so many different transcripts?

PLoS biology·2026
Same author

Endogenous retroviral elements LTR8B and MER65 rewire PSG9 regulation to control trophoblast syncytialization and pre-eclampsia risk.

Genome biology·2026
Same author

Bacterial gene 5' ends have unusual mutation rates that can mislead tests of selection.

PLoS biology·2025
Same author

ERV3-MLT1 provides cis-regulatory elements for human placental functioning and are commonly dysregulated in human-specific preeclampsia.

Genome biology·2025
Same author

Co-option of an endogenous retrovirus (LTR7-HERVH) in early human embryogenesis: becoming useful and going unnoticed.

Mobile DNA·2025
Same author

Why AGG is associated with high transgene output: passenger effects and their implications for transgene design.

NAR genomics and bioinformatics·2025

Synonymous mutations, once thought neutral, can now be linked to disease. Emerging evidence reveals they disrupt gene function through mechanisms like altered mRNA stability and translation pausing.

Area of Science:

  • Genetics and Molecular Biology
  • Human Genomics
  • Bioinformatics

Background:

  • Traditionally, synonymous mutations were considered neutral, having no impact on protein function or organismal fitness.
  • Recent research challenges this long-held assumption, revealing potential deleterious effects of synonymous variants.

Discussion:

  • Synonymous mutations can disrupt crucial cellular processes, including pre-messenger RNA (mRNA) splicing and microRNA (miRNA) binding.
  • New evidence points to additional mechanisms, such as altered messenger RNA (mRNA) stability affecting protein abundance.
  • Induction of translational pausing by synonymous mutations can modify protein structure and activity.

Key Insights:

  • Synonymous mutations are not always neutral and can contribute to disease phenotypes.

Related Experiment Videos

  • Mechanisms include disruption of mRNA splicing, miRNA binding, altered mRNA stability, and translational pausing.
  • These findings necessitate a re-evaluation of synonymous variants in genetic studies and diagnostics.

    • Outlook:

    • Further research is needed to fully elucidate the impact of synonymous mutations across various genes and diseases.
    • Development of improved bioinformatic tools is crucial for accurate prediction of synonymous variant effects.
    • Clinical geneticists should consider synonymous mutations as potential disease-causing variants in diagnostic workflows.