Characterization of MSH2 variants by endogenous gene modification in mouse embryonic stem cells

Human Mutation

Volumn 32, Issue 4, 2011, Pages 389-396

  Wielders, Eva A L ^a   Dekker, Rob J ^a   Holt, Ian ^b   Morris, Glenn E ^b   Te Riele, Hein ^a  

^a NETHERLANDS CANCER INSTITUTE   (Netherlands)

^b KEELE UNIVERSITY   (United Kingdom)

Author keywords

DNA mismatch repair; Genetic counseling; Lynch syndrome; Oligonucleotide directed gene modification; Variants of uncertain significance

Indexed keywords

OLIGONUCLEOTIDE; PROTEIN MSH2;

ALLELE; ANIMAL CELL; ARTICLE; CODON; CONTROLLED STUDY; DNA MODIFICATION; DNA POLYMORPHISM; EMBRYONIC STEM CELL; EXON; GENETIC ANALYSIS; GENETIC RISK; GENETIC VARIABILITY; MICROSATELLITE INSTABILITY; MISMATCH REPAIR; MISSENSE MUTATION; MOUSE; NONHUMAN; PRIORITY JOURNAL; WILD TYPE;

ALLELES; ANIMALS; EMBRYONIC STEM CELLS; GENETIC VARIATION; HUMANS; MICE; MICROSATELLITE INSTABILITY; MUTS HOMOLOG 2 PROTEIN;

MURINAE;

EID: 79952774980     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21448     Document Type: Article

References (35)

1. Aarts M, Dekker M, de Vries S, van der Wal A, te Riele H. 2006. Generation of a mouse mutant by oligonucleotide-mediated gene modification in ES cells. Nucleic Acids Res 34:e147.
2. Banno K, Susumu N, Hirao T, Yanokura M, Hirasawa A, Aoki D, Udagawa Y, Sugano K, Nozawa S. 2003. Identification of germline MSH2 gene mutations in endometrial cancer not fulfilling the new clinical criteria for hereditary nonpolyposis colorectal cancer. Cancer Genet Cytogenet 146:58-65.
3. Banno K, Susumu N, Nozawa S, Sugano K. 2004. Met688Ile and Leu390Phe of the MSH2 gene are not functional mutations, but polymorphisms in Japanese individuals. Cancer Genet Cytogenet 155:92.
4. Chan PA, Duraisamy S, Miller PJ, Newell JA, McBride C, Bond JP, Raevaara T, Ollila S, Nystrom M, Grimm AJ, Christodoulou J, Oetting WS, Greenblatt MS. 2007. Interpreting missense variants: comparing computational methods in human disease genes CDKN2A, MLH1, MSH2, MECP2, and tyrosinase (TYR). Hum Mutat 28:683-693.
5. Chao EC, Velasquez JL, Witherspoon MS, Rozek LS, Peel D, Ng P, Gruber SB, Watson P, Rennert G, Anton-Culver H, Lynch H, Lipkin SM. 2008. Accurate classification of MLH1/MSH2 missense variants with multivariate analysis of protein polymorphisms-mismatch repair (MAPP-MMR). Hum Mutat 29:852-860.
6. Chialina SG, Fornes C, Landi C, de la Vega Elena CD, Nicolorich MV, Dourisboure RJ, Solano A, Solis EA. 2006. Microsatellite instability analysis in hereditary non-polyposis colon cancer using the Bethesda consensus panel of microsatellite markers in the absence of proband normal tissue. BMC Med Genet 7:5.
7. Claij N, Te Riele H. 2002. Methylation tolerance in mismatch repair proficient cells with low MSH2 protein level. Oncogene 21:2873-2879.
8. Clodfelter JE, Gentry MB, Drotschmann K. 2005. MSH2 missense mutations alter cisplatin cytotoxicity and promote cisplatin-induced genome instability. Nucleic Acids Res 33:3323-3330.
9. de Wind N, Dekker M, Berns A, Radman M, te Riele H. 1995. Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination, and predisposition to cancer. Cell 82:321-330.
10. de Wind N, Dekker M, Claij N, Jansen L, van Klink Y, Radman M, Riggins G, van der Valk M, van't Wout K, te Riele H. 1999. HNPCC-like cancer predisposition in mice through simultaneous loss of Msh3 and Msh6 mismatch-repair protein functions. Nat Genet 23:359-362.
11. de Wind N, Dekker M, van Rossum A, van der Valk M, te Riele H. 1998. Mouse models for hereditary nonpolyposis colorectal cancer. Cancer Res 58:248-255.
12. Drotschmann K, Clark AB, Kunkel TA. 1999. Mutator phenotypes of common polymorphisms and missense mutations in MSH2. Curr Biol 9:907-910.
13. Ellison AR, Lofing J, Bitter GA. 2001. Functional analysis of human MLH1 and MSH2 missense variants and hybrid human-yeast MLH1 proteins in Saccharomyces cerevisiae. Hum Mol Genet 10:1889-1900.
14. Froggatt NJ, Joyce JA, Evans DG, Lunt PW, Koch DJ, Ponder BJ, Maher ER. 1996. MSH2 sequence variations and inherited colorectal cancer susceptibility. Eur J Cancer 32A:178.
15. Gammie AE, Erdeniz N, Beaver J, Devlin B, Nanji A, Rose MD. 2007. Functional characterization of pathogenic human MSH2 missense mutations in Saccharomyces cerevisiae. Genetics 177:707-721.
16. Guerrette S, Wilson T, Gradia S, Fishel R. 1998. Interactions of human hMSH2 with hMSH3 and hMSH2 with hMSH6: examination of mutations found in hereditary nonpolyposis colorectal cancer. Mol Cell Biol 18:6616-6623.
17. Jenkins MA, Baglietto L, Dite GS, Jolley DJ, Southey MC, Whitty J, Mead LJ, St John DJ, Macrae FA, Bishop DT, Venter DJ, Giles GG, Hopper JL. 2002. After hMSH2 and hMLH1-what next? Analysis of three-generational, population-based, early-onset colorectal cancer families. Int J Cancer 102:166-171.
18. Jiricny J. 2006. The multifaceted mismatch-repair system. Nat Rev Mol Cell Biol 7:335-346.
19. Lastella P, Surdo NC, Resta N, Guanti G, Stella A. 2006. In silico and in vivo splicing analysis of MLH1 and MSH2 missense mutations shows exon-and tissue-specific effects. BMC Genomics 7:243.
20. Leach FS, Nicolaides NC, Papadopoulos N, Liu B, Jen J, Parsons R, Peltomaki P, Sistonen P, Aaltonen LA, Nystrom-Lahti M, Guan X-Y, Zhang J, Meltzer PS, Yu J-W, Kao F-T, Chen DJ, Cerosaletti KM, Keith Fournier RE, Todd S, Lewis T, Leach RJ, Naylor SL, Weissenbach J, Mecklin J-P, Järvinen H, Petersen GM, Hamilton SR, Green J, Jass J, Watson P, Lynch HT, Trent JM, de la Chapelle A, Kinzler KW, Vogelstein B. 1993. Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75:1215-1225.
21. Lindor NM, Petersen GM, Hadley DW, Kinney AY, Miesfeldt S, Lu KH, Lynch P, Burke W, Press N. 2006. Recommendations for the care of individuals with an inherited predisposition to Lynch syndrome: a systematic review. JAMA 296:1507-1517.
22. Lucci-Cordisco E, Boccuto L, Neri G, Genuardi M. 2006. The use of microsatellite instability, immunohistochemistry and other variables in determining the clinical significance of MLH1 and MSH2 unclassified variants in Lynch syndrome. Cancer Biomark 2:11-27.
23. Lützen 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.
24. Lynch HT, de la Chapelle A. 1999. Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet 36:801-818.
25. Martinez SL, Kolodner RD. 2010. Functional analysis of human mismatch repair gene mutations identifies weak alleles and polymorphisms capable of polygenic interactions. Proc Natl Acad Sci USA 107:5070-5075.
26. Mortensen RM, Conner DA, Chao S, Geisterfer-Lowrance AA, Seidman JG. 1992. Production of homozygous mutant ES cells with a single targeting construct. Mol Cell Biol 12:2391-2395.
27. Nomura S, Sugano K, Kashiwabara H, Taniguchi T, Fukayama N, Fujita S, Akasu T, Moriya Y, Ohhigashi S, Kakizoe T, Sekiya T. 2000. Enhanced detection of deleterious and other germline mutations of hMSH2 and hMLH1 in Japanese hereditary nonpolyposis colorectal cancer kindreds. Biochem Biophys Res Commun 271:120-129.
28. Ou J, Niessen RC, Lutzen A, Sijmons RH, Kleibeuker JH, de Wind N, Rasmussen LJ, Hofstra RM. 2007. Functional analysis helps to clarify the clinical importance of unclassified variants in DNA mismatch repair genes. Hum Mutat 28:1047-1054.
29. Polaczek P, Putzke AP, Leong K, Bitter GA. 1998. Functional genetic tests of DNA mismatch repair protein activity in Saccharomyces cerevisiae. Gene 213:159-167.
30. Southey MC, Jenkins MA, Mead L, Whitty J, Trivett M, Tesoriero AA, Smith LD, Jennings K, Grubb G, Royce SG, Walsh MD, Barker MA, Young JP, Jass JR, St John DJ, Macrae FA, Giles GG, Hopper JL. 2005. Use of molecular tumor characteristics to prioritize mismatch repair gene testing in early-onset colorectal cancer. J Clin Oncol 23:6524-6532.
31. te Riele H, Maandag ER, Berns A. 1992. Highly efficient gene targeting in embryonic stem cells through homologous recombination with isogenic DNA constructs. Proc Natl Acad Sci USA 89:5128-5132.
32. te Riele H, Maandag ER, Clarke A, Hooper M, Berns A. 1990. Consecutive inactivation of both alleles of the pim-1 proto-oncogene by homologous recombination in embryonic stem cells. Nature 348:649-651.
33. Ward R, Meldrum C, Williams R, Mokany E, Scott R, Turner J, Hawkins N, Burgess B, Groombridge C, Spigelman A. 2002. Impact of microsatellite testing and mismatch repair protein expression on the clinical interpretation of genetic testing in hereditary non-polyposis colorectal cancer. J Cancer Res Clin Oncol 128:403-411.
34. Yuan Y, Han HJ, Zheng S, Park JG. 1998. Germline mutations of hMLH1 and hMSH2 genes in patients with suspected hereditary nonpolyposis colorectal cancer and sporadic early-onset colorectal cancer. Dis Colon Rectum 41:434-440.
35. Zhang H, Richards B, Wilson T, Lloyd M, Cranston A, Thorburn A, Fishel R, Meuth M. 1999. Apoptosis induced by overexpression of hMSH2 or hMLH1. Cancer Res 59:3021-3027.