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

DNA repair and trinucleotide repeat instability.

Robert S Lahue1, Danielle L Slater

  • 1Eppley Institute for Research in Cancer and Allied Diseases, and Department of Pathology and Microbiology, University of Nebraska Medical Center, Omaha, Nebraska 68198-6805, USA. rlahue@unmc.edu

Frontiers in Bioscience : a Journal and Virtual Library
|April 18, 2003
PubMed
Summary

Trinucleotide repeat (TNR) sequences in genes can expand or contract, causing disease. DNA repair mechanisms, while intended to fix errors, may paradoxically contribute to TNR instability and mutations.

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

Therapeutic targeting of mismatch repair proteins in triplet repeat expansion diseases.

DNA repair·2025
Same author

SPYing on triplet repeat expansions: Insights into FAN1-MLH1 interaction and regulation.

Cell reports·2021
Same author

New developments in Huntington's disease and other triplet repeat diseases: DNA repair turns to the dark side.

Neuronal signaling·2020
Same author

HDAC3 deacetylates the DNA mismatch repair factor MutSβ to stimulate triplet repeat expansions.

Proceedings of the National Academy of Sciences of the United States of America·2020
Same author

Assessing Triplet Repeat Expansions in Human SVG-A Cell Culture.

Methods in molecular biology (Clifton, N.J.)·2019
Same author

MutSβ abundance and Msh3 ATP hydrolysis activity are important drivers of CTG•CAG repeat expansions.

Nucleic acids research·2017

Area of Science:

  • Genetics
  • Molecular Biology
  • Genomic Instability

Background:

  • Trinucleotide repeat (TNR) sequences, such as CNG and GAA, are prone to expansion or contraction mutations.
  • These repeat expansions in specific genes are linked to various human diseases.
  • Understanding the mechanisms driving TNR instability is crucial for disease research.

Purpose of the Study:

  • To review the role of DNA repair in trinucleotide repeat (TNR) instability.
  • To explore the mechanisms by which DNA repair contributes to TNR expansions and contractions.
  • To discuss the interplay between DNA repair, replication, and gene conversion in TNR mutations.

Main Methods:

  • Review of existing literature on DNA repair and TNR instability.
  • Analysis of models explaining TNR length changes.

Related Experiment Videos

  • Synthesis of evidence supporting pro-mutagenic DNA repair mechanisms.

    • Main Results:

    • TNR instability can result from aberrant DNA replication, gene conversion, or DNA repair.
    • Two main models of DNA repair and TNR instability exist: repair blockage by aberrant DNA structure and pro-mutagenic DNA repair.
    • Evidence suggests DNA repair processes can actively contribute to TNR expansions and contractions.

    Conclusions:

    • DNA repair, particularly error-prone repair synthesis following nucleotide excision, is a significant contributor to TNR instability.
    • Aberrant DNA structures within TNRs may either block repair or trigger error-prone repair pathways.
    • The mechanisms of DNA replication, gene conversion, and DNA repair are interconnected in causing TNR mutations.