Structure of the human MLH1 N-terminus: implications for predisposition to Lynch syndrome.

ABSTRACT: Mismatch repair prevents the accumulation of erroneous insertions/deletions and non-Watson-Crick base pairs in the genome. Pathogenic mutations in the MLH1 gene are associated with a predisposition to Lynch and Turcot's syndromes. Although genetic testing for these mutations is available, robust classification of variants requires strong clinical and functional support. Here, the first structure of the N-terminus of human MLH1, determined by X-ray crystallography, is described. The structure shares a high degree of similarity with previously determined prokaryotic MLH1 homologs; however, this structure affords a more accurate platform for the classification of MLH1 variants.

SUBMITTER: Wu H 

PROVIDER: S-EPMC4528928 | biostudies-literature | 2015 Aug

REPOSITORIES: biostudies-literature