Involvement of mouse Mlh1 in DNA mismatch repair and meiotic crossing over

Nat Genet. 1996 Jul;13(3):336-42. doi: 10.1038/ng0796-336.


Mice that are deficient in either the Pms2 or Msh2 DNA mismatch repair genes have microsatellite instability and a predisposition to tumours. Interestingly, Pms2-deficient males display sterility associated with abnormal chromosome pairing in meiosis. Here mice deficient in another mismatch repair gene, Mlh1, possess not only microsatellite instability but are also infertile (both males and females). Mlh1-deficient spermatocytes exhibit high levels of prematurely separated chromosomes and arrest in first division meiosis. We also show that Mlh1 appears to localize to sites of crossing over on meiotic chromosomes. Together these findings suggest that Mlh1 is involved in DNA mismatch repair and meiotic crossing over.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adaptor Proteins, Signal Transducing
  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Cell Nucleus / chemistry
  • Cell Nucleus / genetics
  • Crossing Over, Genetic*
  • DNA Repair*
  • Epididymis / pathology
  • Female
  • Fungal Proteins / chemistry
  • Fungal Proteins / genetics*
  • Infertility, Female / genetics
  • Infertility, Male / genetics
  • Male
  • Meiosis / genetics*
  • Mice
  • Mice, Transgenic
  • Molecular Sequence Data
  • MutL Protein Homolog 1
  • Mutation
  • Oocytes / chemistry
  • Oocytes / pathology
  • Saccharomyces cerevisiae Proteins
  • Spermatocytes / chemistry
  • Testis / pathology


  • Adaptor Proteins, Signal Transducing
  • Fungal Proteins
  • MLH1 protein, S cerevisiae
  • Saccharomyces cerevisiae Proteins
  • MutL Protein Homolog 1