Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae.

Abstract excerpt

Hereditary nonpolyposis colorectal cancer (HNPCC) is associated with defects in DNA mismatch repair. Mutations in either hMSH2 or hMLH1 underlie the majority of HNPCC cases. Approximately 25% of annotated hMSH2 disease alleles are missense mutations, resulting in a single change out of 934 amino acids. We engineered 54 missense mutations in the cognate positions in yeast MSH2 and tested for function. Of the human...

Topics

• Alleles
• Colorectal Neoplasms, Hereditary Nonpolyposis
• DNA Mismatch Repair
• Genetic Variation
• Humans
• MutS Homolog 2 Protein
• Mutation, Missense
• Saccharomyces cerevisiae