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Article

The E705K mutation in hPMS2 exerts recessive, not dominant, effects on mismatch repair.

Cancer letters - 8 May 2007

Deschênes Suzanne M, Tomer Guy, Nguyen Megan, Erdeniz Naz, Juba Nicole C, Sepúlveda Natalia, Pisani Jenna E, Liskay R Michael

Abstract excerpt

The hPMS2 mutation E705K is associated with Turcot syndrome. To elucidate the pathogenesis of hPMS2-E705K, we modeled this mutation in yeast and characterized its expression and effects on mutation avoidance in mammalian cells. We found that while hPMS2-E705K (pms1-E738K in yeast) did not significantly affect hPMS2 (Pms1p in yeast) stability or interaction with MLH1, it could not complement the mutator phenotype...

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Topics

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Share to Adenosine Triphosphatases
Share to DNA Mismatch Repair

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Repair Enzymes

Share to Genes, Dominant

Share to Genes, Recessive

Share to Mismatch Repair Endonuclease PMS2

Share to Neoplastic Syndromes, Hereditary

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Source

Open in PubMed Open full text

Identifiers

PMID: 17029773
DOI: 10.1016/j.canlet.2006.08.008
PMCID: PMC2366906

Genes

MLH1
PMS2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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