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Structure of the human MLH1 N‐terminus: implications for predisposition to Lynch syndrome
Author(s) -
Wu Hong,
Zeng Hong,
Lam Robert,
Tempel Wolfram,
Kerr Iain D.,
Min Jinrong
Publication year - 2015
Publication title -
acta crystallographica section f
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.572
H-Index - 37
ISSN - 2053-230X
DOI - 10.1107/s2053230x15010183
Subject(s) - mlh1 , lynch syndrome , genetics , gene , dna mismatch repair , biology , genome , computational biology , pms2 , dna repair
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.