Impact of mismatch repair deficiency on genomic stability in the maternal germline and during early embryonic development

Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis

Volumn 556, Issue 1-2, 2004, Pages 45-53

  Larson, Jon S ^a   Stringer, Saundra L ^a   Stringer, James R ^a  

^a UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

Author keywords

GENETIC instability; Germline; Human placental alkaline phosphatase; Maternal effect; Mismatch repair; Mononucleotide repeat

Indexed keywords

ALKALINE PHOSPHATASE PLACENTA ISOENZYME; BETA ACTIN; ENZYME; GUANINE NUCLEOTIDE; MISMATCH REPAIR PROTEIN PMS2; PYRIMIDINE NUCLEOTIDE;

ALLELE; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; BASE PAIRING; CELL COUNT; CELL MUTANT; CONTROLLED STUDY; EGG; EMBRYO; EMBRYO CELL; EMBRYO DEVELOPMENT; ENZYME ACTIVITY; ENZYME SYNTHESIS; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC STABILITY; GENOMICS; HEREDITY; MALE; MISMATCH REPAIR; MOUSE; NONHUMAN; NUCLEOTIDE REPEAT; PHENOTYPE; PLACENTAL ALKALINE PHOSPHATASE GENE; PRIORITY JOURNAL; PROGENY; PROMOTER REGION; PROTEIN FUNCTION; REVERTANT; TISSUE; TRANSGENE; TRANSGENIC MOUSE; WILD TYPE;

ALKALINE PHOSPHATASE; ANIMALS; BASE PAIR MISMATCH; DNA REPAIR; EMBRYONIC DEVELOPMENT; FEMALE; GENOMIC IMPRINTING; GENOMIC INSTABILITY; GERM CELLS; HUMANS; MALE; MICE; PLACENTA;

MUS MUSCULUS;

EID: 5644273037     PISSN: 00275107     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.mrfmmm.2004.06.036     Document Type: Article

References (38)

1. S.E. DePrimo, J. Cao, M.N. Hersh, and J.R. Stringer Use of human placental alkaline phosphatase transgenes to detect somatic mutation in mice in situ Methods 16 1998 49 61
2. J. Cao, S.E. DePrimo, M.N. Hersh, and J.R. Stringer In situ detection of frameshift mutations in mouse cells Mutat. Res. 421 1998 163 178
3. S.E. DePrimo, P.J. Stambrook, and J.R. Stringer Human placental alkaline phosphatase as a histochemical marker of gene expression in transgenic mice Transgenic Res. 5 1996 459 466
4. M.N. Hersh, P.J. Stambrook, and J.R. Stringer Visualization of mosaicism in tissues of normal and mismatch-repair-deficient mice carrying a microsatellite-containing transgene Mutat. Res. 505 2002 51 62
5. A.M. Codegoni, F. Bertoni, G. Colella, G. Caspani, L. Grassi, M. D'Incalci, and M. Broggini Microsatellite instability and frameshift mutations in genes involved in cell cycle progression or apoptosis in ovarian cancer Oncol. Res. 11 1999 297 301
6. A. Duval, J. Gayet, X.P. Zhou, B. Iacopetta, G. Thomas, and R. Hamelin Frequent frameshift mutations of the TCF-4 gene in colorectal cancers with microsatellite instability Cancer Res. 59 1999 4213 4215
7. A. Duval, and R. Hamelin Mutations at coding repeat sequences in mismatch repair-deficient human cancers: toward a new concept of target genes for instability Cancer Res. 62 2002 2447 2454
8. A. Duval, and R. Hamelin Genetic instability in human mismatch repair deficient cancers Ann. Genet. 45 2002 71 75
9. H. Iino, J.R. Jass, L.A. Simms, J. Young, B. Leggett, Y. Ajioka, and H. Watanabe DNA microsatellite instability in hyperplastic polyps, serrated adenomas, and mixed polyps: a mild mutator pathway for colorectal cancer? J. Clin. Pathol. 52 1999 5 9
10. T. Ikenoue, G. Togo, K. Nagai, H. Ijichi, J. Kato, Y. Yamaji, M. Okamoto, N. Kato, T. Kawabe, A. Tanaka, M. Matsumura, Y. Shiratori, and M. Omata Frameshift mutations at mononucleotide repeats in RAD50 recombinational DNA repair gene in colorectal cancers with microsatellite instability Jpn. J. Cancer Res. 92 2001 587 591
11. S. Markowitz, J. Wang, L. Myeroff, R. Parsons, L. Sun, J. Lutterbaugh, R.S. Fan, E. Zborowska, K.W. Kinzler, and B. Vogelstein Inactivation of the type II TGF-beta receptor in colon cancer cells with microsatellite instability Science 268 1995 1336 1338
12. N. Rampino, H. Yamamoto, Y. Ionov, Y. Li, H. Sawai, J.C. Reed, and M. Perucho Somatic frameshift mutations in the BAX gene in colon cancers of the microsatellite mutator phenotype Science 275 1997 967 969
13. S. Schwartz Jr., H. Yamamoto, M. Navarro, M. Maestro, J. Reventos, and M. Perucho Frameshift mutations at mononucleotide repeats in caspase-5 and other target genes in endometrial and gastrointestinal cancer of the microsatellite mutator phenotype Cancer Res. 59 1999 2995 3002
14. J. Wang, L. Sun, L. Myeroff, X. Wang, L.E. Gentry, J. Yang, J. Liang, E. Zborowska, S. Markowitz, and J.K. Willson Demonstration that mutation of the type II transforming growth factor beta receptor inactivates its tumor suppressor activity in replication error-positive colon carcinoma cells J. Biol. Chem. 270 1995 22044 22049
15. H. Yamamoto, H. Sawai, and M. Perucho Frameshift somatic mutations in gastrointestinal cancer of the microsatellite mutator phenotype Cancer Res. 57 1997 4420 4426
16. S.J. Laken, G.M. Petersen, S.B. Gruber, C. Oddoux, H. Ostrer, F.M. Giardiello, S.R. Hamilton, H. Hampel, A. Markowitz, D. Klimstra, S. Jhanwar, S. Winawer, K. Offit, M.C. Luce, K.W. Kinzler, and B. Vogelstein Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC Nat. Genet. 17 1997 79 83
17. D.K. Chang, D. Metzgar, C. Wills, and C.R. Boland Microsatellites in the eukaryotic DNA mismatch repair genes as modulators of evolutionary mutation rate Genome Res. 11 2001 1145 1146
18. A. Duval, M. Reperant, and R. Hamelin Comparative analysis of mutation frequency of coding and non coding short mononucleotide repeats in mismatch repair deficient colorectal cancers Oncogene 21 2002 8062 8066
19. V.E. Gurtu, S. Verma, A.H. Grossmann, R.M. Liskay, W.C. Skarnes, and S.M. Baker Maternal effect for DNA mismatch repair in the mouse Genetics 160 2002 271 277
20. E.M. Rinchik, and D.A. Carpenter N-Ethyl-N-nitrosourea mutagenesis of a 6- to 11-cM subregion of the Fah-Hbb interval of mouse chromosome 7: Completed testing of 4557 gametes and deletion mapping and complementation analysis of 31 mutations Genetics 152 1999 373 383
21. M. Radman, F. Taddei, and I. Matic Evolution-driving genes Res. Microbiol. 151 2000 91 95
22. M.M. Tanaka, C.T. Bergstrom, and B.R. Levin The evolution of mutator genes in bacterial populations: the roles of environmental change and timing Genetics 2003 164
23. L.H. Caporale Natural selection and the emergence of a mutation phenotype: an update of the evolutionary synthesis considering mechanisms that affect genome variation Annu. Rev. Microbiol. 57 2003 467 485
24. D. Brisson The directed mutation controversy in an evolutionary context Crit. Rev. Microbiol. 29 2003 25 35
25. P.D. Sniegowski, P.J. Gerrish, T. Johnson, and A. Shaver The evolution of mutation rates: separating causes from consequences Bioessays 22 2000 1057 1066
26. A. Giraud, M. Radman, I. Matic, and F. Taddei The rise and fall of mutator bacteria Curr. Opin. Microbiol. 4 2001 582 585
27. A.C. Shaver, and P.D. Sniegowski Spontaneously arising mutL mutators in evolving Escherichia coli populations are the result of changes in repeat length J. Bacteriol. 185 2003 6076 6082
28. A. Menoyo, H. Alazzouzi, E. Espin, M. Armengol, H. Yamamoto, and S. Schwartz Jr. Somatic mutations in the DNA damage-response genes ATR and CHK1 in sporadic stomach tumors with microsatellite instability Cancer Res. 61 2001 7727 7730
29. L. Narayanan, J.A. Fritzell, S.M. Baker, R.M. Liskay, and P.M. Glazer Elevated levels of mutation in multiple tissues of mice deficient in the DNA mismatch repair gene Pms2 Proc. Natl. Acad. Sci. U.S.A. 94 1997 3122 3127
30. P.W. Laird, A. Zijderveld, K. Linders, M.A. Rudnicki, R. Jaenisch, and A. Berns Simplified mammalian DNA isolation procedure Nucleic Acids Res. 19 1991 4293
31. J.R. Shaw-White, N. Denko, L. Albers, T.C. Doetschman, and J.R. Stringer Expression of the lacZ gene targeted to the HPRT locus in embryonic stem cells and their derivatives Transgenic Res. 2 1993 1 13
32. D. Dieringer, and C. Schlotterer Two distinct modes of microsatellite mutation processes: evidence from the complete genomic sequences of nine species Genome Res. 13 2003 2242 2251
33. A. Baross-Francis, N. Makhani, R.M. Liskay, and F.R. Jirik Elevated mutant frequencies and increased C:G → T:A transitions in Mlh1-/- versus Pms2-/- murine small intestinal epithelial cells Oncogene 20 2001 619 625
34. Y. Yang, R. Karthikeyan, S.E. Mack, E.J. Vonarx, and B.A. Kunz. Analysis of yeast pms1, msh2, and mlh1 mutators points to differences in mismatch correction efficiencies between prokaryotic and eukaryotic cells Mol. Gen. Genet. 261 1999 777 787
35. J.I. Risinger, A. Umar, J.C. Barrett, and T.A. Kunkel A hPMS2 mutant cell line is defective in strand-specific mismatch repair J. Biol. Chem. 270 1995 18183 18186
36. T. Kato, F. Yatagai, B.W. Glickman, A. Tachibana, and M. Ikenaga Specificity of mutations in the PMS2-deficient human tumor cell line HEC-1-A Mutat. Res. 422 1998 279 283
37. T.A. Prolla, S.M. Baker, A.C. Harris, J.L. Tsao, X. Yao, C.E. Bronner, B. Zheng, M. Gordon, J. Reneker, N. Arnheim, D. Shibata, A. Bradley, and R.M. Liskay Tumour susceptibility and spontaneous mutation in mice deficient in Mlh1, Pms1 and Pms2 DNA mismatch repair Nat. Genet. 18 1998 276 279
38. R. Awatramani, P. Soriano, J.J. Mai, and S. Dymecki An Flp indicator mouse expressing alkaline phosphatase from the ROSA26 locus Nat. Genet. 29 2001 257 259