C-terminal fluorescent labeling impairs functionality of DNA mismatch repair proteins

PLoS ONE

Volumn 7, Issue 2, 2012, Pages

  Brieger, Angela ^a   Plotz, Guido ^a   Hinrichsen, Inga ^a   Passmann, Sandra ^a   Adam, Ronja ^a   Zeuzem, Stefan ^a  

^a GOETHE UNIVERSITY   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

FLUORESCENT DYE; GREEN FLUORESCENT PROTEIN; MISMATCH REPAIR PROTEIN; MISMATCH REPAIR PROTEIN PMS2; PROTEIN MUTL; MLH1 PROTEIN, HUMAN; MSH2 PROTEIN, HUMAN; NUCLEAR PROTEIN; PROTEIN MSH2; SIGNAL TRANSDUCING ADAPTOR PROTEIN;

AMINO TERMINAL SEQUENCE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CELL NUCLEUS; CELLULAR DISTRIBUTION; CHEMICAL LABELING; CONTROLLED STUDY; HUMAN; HUMAN CELL; MISMATCH REPAIR; PROTEIN LOCALIZATION; DRUG EFFECT; GENETICS; MISSENSE MUTATION; PROTEIN MULTIMERIZATION;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; DNA MISMATCH REPAIR; FLUORESCENT DYES; HUMANS; MUTATION, MISSENSE; MUTS HOMOLOG 2 PROTEIN; NUCLEAR PROTEINS; PROTEIN MULTIMERIZATION;

EID: 84856860392     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0031863     Document Type: Article

References (35)

1. Lynch HT, de la Chapelle A, (2003) Hereditary colorectal cancer. N Engl J Med 348: 919-932.
2. Mohd AB, Palama B, Nelson SE, Tomer G, Nguyen M, et al. (2006) Truncation of the C-terminus of human MLH1 blocks intracellular stabilization of PMS2 and disrupts DNA mismatch repair. DNA Repair (Amst) 5: 347-361.
3. Brieger A, Adryan B, Wolpert F, Passmann S, Zeuzem S, et al. (2010) Cytoskeletal scaffolding proteins interact with Lynch-Syndrome associated mismatch repair protein MLH1. Proteomics 10: 3343-3355.
4. Cannavo E, Gerrits B, Marra G, Schlapbach R, Jiricny J, (2007) Characterization of the interactome of the human MutL homologues MLH1, PMS1, and PMS2. J Biol Chem 282: 2976-2986.
5. Mac Partlin M, Homer E, Robinson H, McCormick CJ, Crouch DH, et al. (2003) Interactions of the DNA mismatch repair proteins MLH1 and MSH2 with c-MYC and MAX. Oncogene 22: 819-825.
6. Her C, Vo AT, Wu X, (2002) Evidence for a direct association of hMRE11 with the human mismatch repair protein hMLH1. DNA Repair (Amst) 1: 719-729.
7. Brieger A, Plotz G, Zeuzem S, Trojan J, (2007) Thymosin beta 4 expression and nuclear transport are regulated by hMLH1. Biochem Biophys Res Commun 364: 731-736.
8. Hong Z, Jiang J, Hashiguchi K, Hoshi M, Lan L, et al. (2008) Recruitment of mismatch repair proteins to the site of DNA damage in human cells. J Cell Sci 121: 3146-3154.
9. Ou J, Rasmussen M, Westers H, Andersen SD, Jager PO, et al. (2009) Biochemical characterization of MLH3 missense mutations does not reveal an apparent role of MLH3 in Lynch syndrome. Genes Chromosomes Cancer 48: 340-350.
10. Brieger A, Adam R, Passmann S, Plotz G, Zeuzem S, et al. (2011) A CRM1-dependent nuclear export pathway is involved in the regulation of MutLalpha subcellular localization. Genes Chromosomes Cancer 50: 59-70.
11. Brieger A, Plotz G, Raedle J, Weber N, Baum W, et al. (2005) Characterization of the nuclear import of human MutLalpha. Mol Carcinog 43: 51-58.
12. Raevaara TE, Gerdes AM, Lonnqvist KE, Tybjaerg-Hansen A, Abdel-Rahman WM, et al. (2004) HNPCC mutation MLH1 P648S makes the functional protein unstable, and homozygosity predisposes to mild neurofibromatosis type 1. Genes Chromosomes Cancer 40: 261-265.
13. Raevaara TE, Korhonen MK, Lohi H, Hampel H, Lynch E, et al. (2005) Functional significance and clinical phenotype of nontruncating mismatch repair variants of MLH1. Gastroenterology 129: 537-549.
14. Raevaara TE, Vaccaro C, Abdel-Rahman WM, Mocetti E, Bala S, et al. (2003) Pathogenicity of the hereditary colorectal cancer mutation hMLH1 del616 linked to shortage of the functional protein. Gastroenterology 125: 501-509.
15. Leong V, Lorenowicz J, Kozij N, Guarne A, (2009) Nuclear import of human MLH1, PMS2, and MutLalpha: redundancy is the key. Mol Carcinog 48: 742-750.
16. Hardt K, Heick SB, Betz B, Goecke T, Yazdanparast H, et al. (2011) Missense variants in hMLH1 identified in patients from the German HNPCC consortium and functional studies. Fam Cancer 10: 273-284.
17. Jager AC, Rasmussen M, Bisgaard HC, Singh KK, Nielsen FC, et al. (2001) HNPCC mutations in the human DNA mismatch repair gene hMLH1 influence assembly of hMutLalpha and hMLH1-hEXO1 complexes. Oncogene 20: 3590-3595.
18. Han W, Rhee JS, Maximov A, Lin W, Hammer RE, et al. (2005) C-terminal ECFP fusion impairs synaptotagmin 1 function: crowding out synaptotagmin 1. J Biol Chem 280: 5089-5100.
19. Weinheimer I, Boonrod K, Moser M, Zwiebel M, Fullgrabe M, et al. (2010) Analysis of an autoproteolytic activity of rice yellow mottle virus silencing suppressor P1. Biol Chem 391: 271-281.
20. Motley AM, Berg N, Taylor MJ, Sahlender DA, Hirst J, et al. (2006) Functional analysis of AP-2 alpha and mu2 subunits. Mol Biol Cell 17: 5298-5308.
21. Trojan J, Zeuzem S, Randolph A, Hemmerle C, Brieger A, et al. (2002) Functional analysis of hMLH1 variants and HNPCC-related mutations using a human expression system. Gastroenterology 122: 211-219.
22. Brieger A, Trojan J, Raedle J, Plotz G, Zeuzem S, (2002) Transient mismatch repair gene transfection for functional analysis of genetic hMLH1 and hMSH2 variants. Gut 51: 677-684.
23. Plotz G, Piiper A, Wormek M, Zeuzem S, Raedle J, (2006) Analysis of the human MutLalpha.MutSalpha complex. Biochem Biophys Res Commun 340: 852-859.
24. Kosinski J, Plotz G, Guarne A, Bujnicki JM, Friedhoff P, (2008) The PMS2 subunit of human MutLalpha contains a metal ion binding domain of the iron-dependent repressor protein family. J Mol Biol 382: 610-627.
25. Plotz G, Welsch C, Giron-Monzon L, Friedhoff P, Albrecht M, et al. (2006) Mutations in the MutSalpha interaction interface of MLH1 can abolish DNA mismatch repair. Nucleic Acids Res 34: 6574-6586.
26. Guarne A, Ramon-Maiques S, Wolff EM, Ghirlando R, Hu X, et al. (2004) Structure of the MutL C-terminal domain: a model of intact MutL and its roles in mismatch repair. EMBO J 23: 4134-4145.
27. Guarne A, Junop MS, Yang W, (2001) Structure and function of the N-terminal 40 kDa fragment of human PMS2: a monomeric GHL ATPase. EMBO J 20: 5521-5531.
28. Kosinski J, Hinrichsen I, Bujnicki JM, Friedhoff P, Plotz G, (2010) Identification of Lynch syndrome mutations in the MLH1-PMS2 interface that disturb dimerization and mismatch repair. Hum Mutat 31: 975-982.
29. Lutzen A, de Wind N, Georgijevic D, Nielsen FC, Rasmussen LJ, (2008) Functional analysis of HNPCC-related missense mutations in MSH2. Mutat Res 645: 44-55.
30. Christensen LL, Kariola R, Korhonen MK, Wikman FP, Sunde L, et al. (2009) Functional characterization of rare missense mutations in MLH1 and MSH2 identified in Danish colorectal cancer patients. Fam Cancer 8: 489-500.
31. Castillejo A, Guarinos C, Martinez-Canto A, Barbera VM, Egoavil C, et al. (2011) Evidence for classification of c.1852_1853AA>GC in MLH1 as a neutral variant for Lynch syndrome. BMC Med Genet 12: 12.
32. Snapp EL, (2009) Fluorescent proteins: a cell biologist's user guide. Trends Cell Biol 19: 649-655.
33. Cejka P, Stojic L, Mojas N, Russell AM, Heinimann K, et al. (2003) Methylation-induced G(2)/M arrest requires a full complement of the mismatch repair protein hMLH1. EMBO J 22: 2245-2254.
34. Wu X, Platt JL, Cascalho M, (2003) Dimerization of MLH1 and PMS2 limits nuclear localization of MutLalpha. Mol Cell Biol 23: 3320-3328.
35. Plotz G, Raedle J, Brieger A, Trojan J, Zeuzem S, (2003) N-terminus of hMLH1 confers interaction of hMutLalpha and hMutLbeta with hMutSalpha. Nucleic Acids Res 31: 3217-3226.