Communications Biology (Dec 2020)

Identification of MLH2/hPMS1 dominant mutations that prevent DNA mismatch repair function

  • Gloria X. Reyes,
  • Boyu Zhao,
  • Tobias T. Schmidt,
  • Kerstin Gries,
  • Matthias Kloor,
  • Hans Hombauer

DOI
https://doi.org/10.1038/s42003-020-01481-4
Journal volume & issue
Vol. 3, no. 1
pp. 1 – 14

Abstract

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Reyes et al. identified and characterized dominant mutations in the MutL homolog MLH2 (in S. cerevisiae) and PMS1 (in humans) causing an increased mutator phenotype. Based on their findings, they propose that Mlh2/hPMS1-Mlh1 mutant complexes can act as roadblocks on DNA preventing mismatch repair function.