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

Mutation frequency in coding and non-coding repeat sequences in mismatch repair deficient cells derived from normal

A L Bacon1, S M Farrington, M G Dunlop

  • 1Department of Oncology and MRC Human Genetics Unit, Western General Hospital, University of Edinburgh, Crewe Road, Edinburgh, EH4 2XU, UK.

Oncogene
|December 26, 2001
PubMed
Summary

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

Evidence for the Collective Nature of Radial Flow in Pb+Pb Collisions with the ATLAS Detector.

Physical review letters·2026
Same author

Evidence for the Dimuon Decay of the Higgs Boson in pp Collisions with the ATLAS Detector.

Physical review letters·2025
Same author

Evidence for Longitudinally Polarized W Bosons in the Electroweak Production of Same-Sign W Boson Pairs in Association with Two Jets in pp Collisions at sqrt[s]=13  TeV with the ATLAS Detector.

Physical review letters·2025
Same author

Survival outcomes in patients with sigmoid volvulus.

International journal of colorectal disease·2025
Same author

Observation of tt[over ¯] Production in Pb+Pb Collisions at sqrt[s_{NN}]=5.02  TeV with the ATLAS Detector.

Physical review letters·2025
Same author

Search for Dark Matter Produced in Association with a Dark Higgs Boson in the bb[over ¯] Final State Using pp Collisions at sqrt[s]=13  TeV with the ATLAS Detector.

Physical review letters·2025

Mismatch repair (MMR) deficiency causes inherent instability in specific gene sequences, particularly the TGFBR2 poly(A)(10) tract. This instability contributes to tumor progression by unmasking hypermutable sequences.

Area of Science:

  • Oncology
  • Genetics
  • Molecular Biology

Background:

  • Repetitive sequences in TGFBR2 and BAX genes are frequently mutated in mismatch repair (MMR) deficient tumors.
  • The interplay between selection pressure and inherent instability in these genes remains understudied.

Purpose of the Study:

  • To investigate whether TGFBR2 and BAX genes possess inherent mutational susceptibility in MMR-deficient cells.
  • To differentiate inherent instability from selection pressures in MMR defects.

Main Methods:

  • Studied MMR-deficient B-lymphocyte cell lines derived from normal tissue to minimize selection bias.
  • Utilized small pool PCR to confirm microsatellite instability.
  • Analyzed mutation frequencies at specific repetitive tracts within TGFBR2 and BAX.

Related Experiment Videos

Main Results:

  • Confirmed inherent instability of certain MMR-repaired sequences.
  • Demonstrated MMR deficiency leads to excess mutations at the TGFBR2 poly(A)(10) tract (P<0.001).
  • Observed no similar excess of mutations at the BAX poly(G)(8) tract.

Conclusions:

  • MMR deficiency inherently destabilizes specific repetitive sequences, notably the TGFBR2 poly(A)(10) tract.
  • This inherent instability contributes to tumorigenesis by "unmasking" hypermutable sequences.
  • Findings add complexity to the mutator phenotype concept in cancer development.