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Mechanism of MutLβ-dependent DNA expansions.

Lyudmila Y Kadyrova1, Farid F Kadyrov2, Bruce Hayward3

  • 1Division of Biochemistry and Molecular Biology, Department of Biomedical Sciences, Southern Illinois University School of Medicine, Carbondale, IL 62901.

Proceedings of the National Academy of Sciences of the United States of America
|April 22, 2026
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Summary

MutLβ protein promotes DNA expansions, crucial for repeat expansion diseases. It enhances MutSβ and MutLγ activities, aiding in DNA repair mechanisms.

Keywords:
DNA repairMLH1–MLH3 endonucleasePMS1genome instabilityrepeat expansion diseases

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Area of Science:

  • Molecular Biology
  • Genetics
  • DNA Repair Mechanisms

Background:

  • MutS and MutL proteins are vital for DNA metabolism.
  • MutLβ (MLH1-PMS1 heterodimer) is a eukaryotic MutL complex implicated in repeat expansion diseases.
  • The precise function and mechanism of MutLβ in DNA expansions remain unclear.

Purpose of the Study:

  • To elucidate the function of MutLβ in DNA metabolism.
  • To investigate the mechanism of MutLβ-dependent DNA expansions.
  • To determine MutLβ's role in repeat expansion diseases.

Main Methods:

  • In vitro studies using human cell extracts and defined biochemical systems.
  • Analysis of DNA expansion promotion by MutLβ.
  • Biochemical assays to assess MutLγ endonuclease activity.
  • Investigation of protein-protein interactions (MutLβ, MutSβ, MutLγ, PCNA).
  • Site-directed mutagenesis to study MLH1-F80V substitution effects.

Main Results:

  • MutLβ promotes MutSβ- and MutLγ-dependent DNA expansions.
  • MutLβ is essential for DNA expansions mediated by MutSβ and low concentrations of MutLγ.
  • MutLβ enhances the endonuclease activity of MutLγ on loop-containing DNA.
  • MutLβ interacts with MutSβ, MutLγ, and PCNA.
  • A specific MLH1 substitution in MutLβ impairs its function in DNA expansions.

Conclusions:

  • MutLβ plays a critical role in promoting DNA expansions through a MutSβ- and MutLγ-dependent pathway.
  • MutLβ facilitates DNA repair by enhancing the incision of loop-containing DNA strands.
  • These findings provide mechanistic insights into repeat expansion diseases and DNA repair.