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 theMLH1gene 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. Lastly, the structure shares a high degree of similarity with previously determined prokaryoticMLH1homologs; however, this structure affords a more accurate platform for the classification ofMLH1variants.
- Authors:
-
- Univ. of Toronto, ON (Canada)
- Myriad Genetic Laboratories Inc., Salt Lake City, UT (United States)
- Univ. of Toronto, ON (Canada). Dept. of Physiology
- Publication Date:
- Research Org.:
- Argonne National Laboratory (ANL), Argonne, IL (United States). Advanced Photon Source (APS)
- Sponsoring Org.:
- USDOE Office of Science (SC), Biological and Environmental Research (BER)
- OSTI Identifier:
- 1208676
- Grant/Contract Number:
- AC02- 06CH1135
- Resource Type:
- Accepted Manuscript
- Journal Name:
- Acta Crystallographica. Section F, Structural Biology Communications
- Additional Journal Information:
- Journal Volume: 71; Journal Issue: 8; Journal ID: ISSN 2053-230X
- Publisher:
- International Union of Crystallography
- Country of Publication:
- United States
- Language:
- ENGLISH
- Subject:
- 75 CONDENSED MATTER PHYSICS, SUPERCONDUCTIVITY AND SUPERFLUIDITY
Citation Formats
Wu, Hong, Zeng, Hong, Lam, Robert, Tempel, Wolfram, Kerr, Iain D., and Min, Jinrong. Structure of the human MLH1 N-terminus: implications for predisposition to Lynch syndrome. United States: N. p., 2015.
Web. doi:10.1107/S2053230X15010183.
Wu, Hong, Zeng, Hong, Lam, Robert, Tempel, Wolfram, Kerr, Iain D., & Min, Jinrong. Structure of the human MLH1 N-terminus: implications for predisposition to Lynch syndrome. United States. https://doi.org/10.1107/S2053230X15010183
Wu, Hong, Zeng, Hong, Lam, Robert, Tempel, Wolfram, Kerr, Iain D., and Min, Jinrong. Sat .
"Structure of the human MLH1 N-terminus: implications for predisposition to Lynch syndrome". United States. https://doi.org/10.1107/S2053230X15010183. https://www.osti.gov/servlets/purl/1208676.
@article{osti_1208676,
title = {Structure of the human MLH1 N-terminus: implications for predisposition to Lynch syndrome},
author = {Wu, Hong and Zeng, Hong and Lam, Robert and Tempel, Wolfram and Kerr, Iain D. and Min, Jinrong},
abstractNote = {Mismatch repair prevents the accumulation of erroneous insertions/deletions and non-Watson–Crick base pairs in the genome. Pathogenic mutations in theMLH1gene 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. Lastly, the structure shares a high degree of similarity with previously determined prokaryoticMLH1homologs; however, this structure affords a more accurate platform for the classification ofMLH1variants.},
doi = {10.1107/S2053230X15010183},
journal = {Acta Crystallographica. Section F, Structural Biology Communications},
number = 8,
volume = 71,
place = {United States},
year = {Sat Aug 01 00:00:00 EDT 2015},
month = {Sat Aug 01 00:00:00 EDT 2015}
}
Web of Science
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