Evaluation of the MLH1 I219V alteration in DNA mismatch repair activity and ulcerative colitis

Inflammatory Bowel Diseases

Volumn 14, Issue 5, 2008, Pages 605-611

  Plotz, Guido ^a   Raedle, Jochen ^b   Spina, Anna ^b   Welsch, Christoph ^b,c   Stallmach, Andreas ^d   Zeuzem, Stefan ^a   Schmidt, Carsten ^d  

^a GOETHE UNIVERSITY   (Germany)

^b SAARLAND UNIVERSITY   (Germany)

^c MAX PLANCK INSTITUTE FOR INFORMATICS   (Germany)

^d FRIEDRICH SCHILLER UNIVERSITY JENA   (Germany)

Author keywords

Inflammatory bowel diseases; Mutation; Polymorphism; Susceptibility

Indexed keywords

DNA; PROTEIN MLH1;

ARTICLE; CHEMICAL ANALYSIS; CLINICAL ARTICLE; COMPUTER MODEL; CONTROLLED STUDY; DNA REPAIR; EMBRYO; GENE; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; HUMAN; HUMAN CELL; HYDROPHOBICITY; MISMATCH REPAIR; MLH1 GENE; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN FUNCTION; PROTEIN STABILITY; ULCERATIVE COLITIS;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADULT; AGED; AGED, 80 AND OVER; CELL LINE; COLITIS, ULCERATIVE; DNA; DNA MISMATCH REPAIR; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HUMANS; LINKAGE DISEQUILIBRIUM; MALE; MIDDLE AGED; MUTATION; NUCLEAR PROTEINS; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC;

EID: 44349188598     PISSN: 10780998     EISSN: 15364844     Source Type: Journal    
DOI: 10.1002/ibd.20358     Document Type: Article

References (44)

1. Gaya DR, Russell RK, Nimmo ER, et al. New genes in inflammatory bowel disease: lessons for complex diseases? Lancet. 2006;367:1271-1284.
2. Satsangi J, Parkes M, Louis E, et al. Two stage genome-wide search in inflammatory bowel disease provides evidence for susceptibility loci on chromosomes 3, 7 and 12. Nat Genet. 1996;14:199-202.
3. Hugot JP, Laurent-Puig P, Gower-Rousseau C, et al. Mapping of a susceptibility locus for Crohn's disease on chromosome 16. Nature. 1996;379:821-823.
4. Ahmad T, Tamboli CP, Jewell D, et al. Clinical relevance of advances in genetics and pharmacogenetics of IBD. Gastroenterology. 2004;126:1533-1549.
5. Hugot JP, Chamaillard M, Zouali H, et al. Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Nature. 2001;411:599-603.
6. Hampe J, Lynch NJ. Daniels, S, et al. Fine mapping of the chromosome 3p susceptibility locus in inflammatory bowel disease. Gut. 2001;48:191-197.
7. Duerr RH. Barmada, MM. Zhang, L, et al. Evidence for an inflammatory bowel disease locus on chromosome 3p26: linkage transmission/disequilibrium and partitioning of linkage Hum Mol Genet. 2002;11:2599-2606.
8. Consortium TWTCC. Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature. 2007;447:661-678.
9. Annese V, Piepoli A, Andriulli A, et al. Association of Crohn's disease and ulcerative colitis with haplotypes of the MLH1 gene in Italian inflammatory bowel disease patients. J Med Genet. 2002;39:332-334.
10. Pokorny RM, Hofmeister A, Galandiuk S, et al. Crohn's disease and ulcerative colitis are associated with the DNA repair gene MLH1. Ann Surg. 1997;225:718-723 discussion 723-725.
11. Brentnall TA, Crispin DA, Bronner MP, et al. Microsatellite instability in nonneoplastic mucosa from patients with chronic ulcerative colitis. Cancer Res. 1996;56:1237-1240.
12. Fleisher AS, Esteller M, Harpaz N, et al. Microsatellite instability in inflammatory bowel disease-associated neoplastic lesions is associated with hypermethylation and diminished expression of the DNA mismatch repair gene, hMLH1. Cancer Res. 2000;60:4864-4868.
13. Plotz G, Zeuzem S, Raedle J. DNA mismatch repair and Lynch syndrome. J Mol Histol. 2006;37:271-283.
14. Liu B, Nicolaides NC, Markowitz S, et al. Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nat Genet. 1995;9:48-55.
15. Tannergard P, Lipford JR, Kolodner R, et al. Mutation screening in the hMLH1 gene in Swedish hereditary nonpolyposis colon cancer families. Cancer Res. 1995;55:6092-6096.
16. Raptis S, Mrkonjic M, Green RC, et al. MLH1-93G>A promoter polymorphism and the risk of microsatellite-unstable colorectal cancer. J Natl Cancer Inst. 2007;99:463-474.
17. Takahashi M, Shimodaira H, Andreutti-Zaugg C, et al. Functional analysis of human MLH1 variants using yeast and in vitro mismatch repair assays. Cancer Res. 2007;67:4595-4604.
18. Raevaara TE, Korhonen MK, Lohi H, et al. Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. Gastroenterology. 2005;129:537-549.
19. Bagnoli S, Putignano AL, Melean G, et al. Susceptibility to refractory ulcerative colitis is associated with polymorphism in the hMLH1 mismatch repair gene. Inflamm Bowel Dis. 2004;10:705-708.
20. Plotz G, Raedle J, Brieger A, et al. N-terminus of hMLH1 confers interaction of hMutLalpha and hMutLbeta with hMutSalpha. Nucleic Acids Res. 2003;31:3217-3226.
21. Wang HX, Hays JB. Mismatch repair in human nuclear extracts - time courses and ATP requirements for kinetically distinguishable steps leading to tightly controlled 5′ to 3′ and aphidicolin-sensitive 3′ to 5′ mispair-provoked excision. J Biol Chem. 2002;277:26143-26148.
22. Wang HX, Hays JB. Simple and rapid preparation of gapped plasmid DNA for incorporation of oligomers containing specific DNA lesions. Mol Biotechnol. 2001;19:133-140.
23. Wang HX, Hays JB. Preparation of DNA substrates for in vitro mismatch repair. Mol Biotechnol. 2000;15:97-104.
24. Wheeler DL, Church DM, Edgar R, et al. Database resources of the National Center for Biotechnology Information: update. Nucleic Acids Res. 2004;32:D35-D40.
25. Altschul SF, Madden TL, Schaffer AA, et al. Gapped BLAST and PSI-BLAST: a new generation of protein database search programs. Nucleic Acids Res. 1997;25:3389-3402.
26. Chenna R, Sugawara H, Koike T, et al. Multiple sequence alignment with the Clustal series of programs. Nucleic Acids Res. 2003;31:3497-3500.
27. Galtier N, Gouy M, Gautier C. SEAVIEW and PHYLO_WIN: two graphic tools for sequence alignment and molecular phylogeny. Comput Appl Biosci. 1996;12:543-548.
28. Vriend G. WHAT IF: a molecular modeling and drug design program. J Mol Graph. 1990;8:52-56, 29.
29. Ban C, Junop M, Yang W. Transformation of MutL by ATP binding and hydrolysis: a switch in DNA mismatch repair. Cell. 1999;97:85-97.
30. Westbrook J, Feng Z, Chen L, et al. The Protein Data Bank and structural genomics. Nucleic Acids Res. 2003;31:489-491.
31. Nicholas KB, Nicholas HB Jr, Deerfield DW. GeneDoc: analysis and visualization of genetic variation. EMBNEW.NEWS. 1997;4:14.
32. Kabsch W, Sander C. Dictionary of protein secondary structure: pattern recognition of hydrogen-bonded and geometrical features. Biopolymers. 1983;22:2577-2637.
33. Raschle M, Dufner P, Marra G, et al. Mutations within the hMLH1 and hPMS2 Subunits of the human MutLalpha mismatch repair factor affect its ATPase activity, but not its ability to interact with hMutSalpha. J Biol Chem. 2002;277:21810-21820.
34. Tomer G, Buermeyer AB, Nguyen MM, et al. Contribution of human mlh1 and pms2 ATPase activities to DNA mismatch repair. J Biol Chem. 2002;277:21801-21809.
35. Spampinato C, Modrich P. The MutL ATPase is required for mismatch repair. J Biol Chem. 2000;275:9863-9869.
36. Ban C, Yang W. Crystal structure and ATPase activity of MutL: implications for DNA repair and mutagenesis. Cell. 1998;95:541-552.
37. Plotz G, Welsch C, Giron-Monzon L, et al. Mutations in the MutSalpha interaction interface of MLH1 can abolish DNA mismatch repair. Nucleic Acids Res. 2006;34:6574-6586.
38. Altmuller J, Palmer LJ, Fischer G, et al. Genomewide scans of complex human diseases: true linkage is hard to find. Am J Hum Genet. 2001;69:936-950.
39. Moslein G, Tester DJ, Lindor NM, et al. Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer. Hum Mol Genet. 1996;5:1245-1252.
40. Dolcetti R, Viel A, Doglioni C, et al. High prevalence of activated intraepithelial cytotoxic T lymphocytes and increased neoplastic cell apoptosis in colorectal carcinomas with microsatellite instability. Am J Pathol. 1999;154:1805-1813.
41. Schwitalle Y, Linnebacher M, Ripberger E, et al. Immunogenic peptides generated by frameshift mutations in DNA mismatch repair-deficient cancer cells. Cancer Immun. 2004;4:14.
42. Smyrk TC, Watson P, Kaul K, et al. Tumor-infiltrating lymphocytes are a marker for microsatellite instability in colorectal carcinoma. Cancer. 2001;91:2417-2422.
43. Chang CL, Marra G, Chauhan DP, et al. Oxidative stress inactivates the human DNA mismatch repair system. Am J Physiol Cell Physiol. 2002;283:C148-154.
44. Gasche C, Chang CL, Rhees J, et al. Oxidative stress increases frameshift mutations in human colorectal cancer cells. Cancer Res. 2001;61:7444-7448.