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MLH3

MIM.604395 14q24.3

MLH3 is a recently described member of the DNA mismatch repair gene family. DNA mismatch repair is important because of its role in maintaining genomic integrity and its association with hereditary nonpolyposis colon cancer (HNPCC) (MIM.120435).

Based on its interaction with the MutL homologue MLH1, it was postulated that MLH3 might play a role in tumorigenesis.

MLH3 encodes a DNA mismatch repair protein that interacts with MLH1. MLH3 is more similar to mismatch repair proteins from yeast, plants, worms, and bacteria than to any known mammalian protein, suggesting that its conserved sequence may confer unique functions in mice and humans.

Cells in culture stably expressing a dominant-negative MLH3 protein exhibited microsatellite instability.

Pathology

Germ line and somatic mutations in MLH3 have been identified in a small fraction of colorectal cancers, but the role of MLH3 in colorectal cancer tumorigenesis remains controversial.

- germline mutations in

  • hereditary nonpolyposis colon cancer (HNPCC) (MIM.120435)
  • endometrial adenocarcinoma (endometrial cancer) (16885347)

- somatic mutations in

  • colorectal adenocarcinoma (colorectal cancer) (MIM.114500)
  • endometrial adenocarcinoma (endometrial cancer) (16885347)

See also

- DNA mismatch repair

References

- Taylor NP, Powell MA, Gibb RK, Rader JS, Huettner PC, Thibodeau SN, Mutch DG, Goodfellow PJ. MLH3 mutation in endometrial cancer. Cancer Res. 2006 Aug 1;66(15):7502-8. PMID: 16885347