Human MSH2 binds to trinucleotide repeat DNA structures associated with neurodegenerative diseases

Human Molecular Genetics

Volumn 6, Issue 7, 1997, Pages 1117-1123

  Pearson, Christopher E ^a   Ewel, Amy ^b   Acharya, Samir ^b   Fishel, Richard A ^b   Sinden, Richard R ^a  

^a TEXAS A AND M HEALTH SCIENCE CENTER   (United States)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DNA; DNA BINDING PROTEIN;

ARTICLE; BASE MISPAIRING; BINDING AFFINITY; CONTROLLED STUDY; HUMAN; MYOTONIC DYSTROPHY; NERVE DEGENERATION; PRIORITY JOURNAL; PROTEIN DNA BINDING; TRINUCLEOTIDE REPEAT;

BINDING, COMPETITIVE; DNA; DNA REPAIR; DNA-BINDING PROTEINS; HUMANS; MUTS HOMOLOG 2 PROTEIN; NERVE DEGENERATION; NUCLEIC ACID HETERODUPLEXES; PROTO-ONCOGENE PROTEINS; SUBSTRATE SPECIFICITY; TRINUCLEOTIDE REPEATS;

EID: 0030752987     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.7.1117     Document Type: Article

References (55)

1. Ashley, C.T.,Jr and Warren, S.T. (1995) Trinucleotide repeat expansion and human disease. Annu. Rev. Genet., 29, 703-728.
2. Mahadevan, M., Tsilfidis, C., Sabourin, L., Shutler, G., Amemiya, C., Jansen, G., Neville, C., Narang, M., Barceló J., O'Hoy, K., LeBlond, S., Earle-MacDonald, J., DeJong, P.J., Wieringa, B. and Korneluk, R.G. (1992) Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science, 255, 1253-1255.
3. Richards, R.I. and Sutherland, G.R. (1992) Heritable unstable DNA sequences. Nature Genet., 1, 7-9.
4. Chung, M.-y., Ranum, L.P.W., Duvick, L.A., Servadio, A., Zoghbi, H.Y. and Orr, H.T. (1993) Evidence for a mechanism predisposing to intergenerational CAG repeat instability in spinocerebellar ataxia type I. Nature Genet., 5, 254-258.
5. Eichler, E.E., Holden, J.J.A., Popovich, B.W., Reiss, A.L., Snow, K., Thibodeau, S.N., Richards, C.S., Ward, P.A. and Nelson, D.L. (1994) Length of uninterrupted CGG repeats determines instability in the FMR1 gene. Nature Genet., 8, 88-94.
6. Kunst, C.B. and Warren, S.T. (1994) Cryptic and polar variation in the fragile X repeat could result in predisposing normal alleles. Cell, 77, 853-861.
7. Snow, K., Tester, D.J., Kruckeberg, K.E., Schaid, D.J. and Thibodeau, S.N. (1994) Sequence analysis of the fragile X trinucleotide repeat: implications for the origin of the fragile X mutation. Hum. Mol. Genet., 9, 1543-1551.
8. Kang, S., Jaworski, A., Oshima, K. and Wells, R.D. (1995) Expansion and deletion of CTG repeats from human disease genes are determined by the direction of replication in E.coli. Nature Genet., 10, 213-218.
9. n triplet repeats from human hereditary diseases. Proc. Natl Acad. Sci. USA. 92, 11019-11023.
10. Sinden, R.R. and Wells, R.D. (1992) DNA structure, mutations, and human genetic disease. Curr. Opin. Biotechnol., 3, 612-622.
11. Wells, R.D. and Sinden, R.R. (1993) In Davies, K.E. and Warren, S.T. (eds), Genome Analysis, Genome Rearrangement and Stability. Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY, vol. 7, pp. 107-138.
12. Pearson, C.E. and Sinden, R.R. (1996) Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile X loci. Biochemistry, 35, 5041-5053.
13. Richards, R.I. and Sutherland, G.R. (1994) Simple repeat DNA is not replicated simply. Nature Genet., 6, 114-116.
14. Pearson, C.E. Eichler, E.E., Lorenzetti, D., Acharya, S., Kramer, P.R., Kramer, S.F., Nelson, D.L., Zoghbi, H.Y. and Sinden, R.R. (1996) Slipped strand structures in neurodegenerative disease-associated trinucleotide repeats: a role for human mismatch repair and cryptic interruptions. Am. J. Hum. Genet., 59 (suppl.), A48, 244.
15. Fishel, R., Lescoe, M.K., Rao, M.R.S., Copeland, N.G., Jenkins, N.A., Garber, J., Kane, M. and Kolodner, R. (1993) The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell, 15, 1027-1038.
16. Leach, F.S. et al., (1993) Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell, 75, 1215-1225.
17. Su, S.-S. and Modrich, P. (1986) Escherichia coli mutS-encoded protein binds to mismatched DNA basepairs. Proc. Natl Acad. Sci. USA, 83, 5057-5061.
18. Su, S.-S., Lahue, R.S., Au, K.G. and Modrich, P. (1988) Mispair specificity of methyl-directed DNA mismatch correction in vitro. J. Biol. Chem., 263, 6829-6835.
19. Jiricny, J., Su, S.-S., Wood, S.G. and Modrich, P. (1988) Mismatch-containing oligonucleotide duplexes bound by the E.coli mutS-encoded protein. Nucleic Acids Res., 16, 7843-7853.
20. Parker, B.O. and Marinus, M.G. (1992) Repair of DNA heteroduplexes containing small heterologous sequences in Escherichia coli. Proc. Natl Acad. Sci. USA, 89, 1730-1734.
21. Alani, E., Chi, N.-W. and Kolodner, R.D. (1995)The Saccharomyces cerevisiae Msh2 protein specifically binds to duplex oligonucleotides containing mismatched DNA base pairs and insertions. Genes Dev., 9, 234-247.
22. Fishel, R., Ewel, A. and Lescoe, M.K. (1994) Purified human MSH2 protein binds to DNA containing mismatched nucleotides. Cancer Res., 54, 5539-5542.
23. Fishel, R., Ewel, A., Lee, S., Lescoe, M.K. and Griffith, J. (1994) Binding of mismatched microsatellite DNA sequences by the human MSH2 protein. Science, 266, 1403-1405.
24. Bhattacharyya, N.P., Skandalis, A., Ganesh, A., Groden, J. and Meuth, M. (1994) Mutator phenotype in human colorectal carcinoma cell lines. Proc. Natl Acad. Sci. USA, 91, 6319-6323.
25. Parsons, R., Li, G.-M., Longely, M.J., Fang, W.-H., Papadopoulos, N., Jen, J., de la Chapelle, A., Kinzler, K.W., Vogelstein, B. and Modrich, P. (1993) Hypermutability and mismatch repair deficiency in RER+ tumor cells. Cell, 75, 1227-1236
26. Umar, A., Boyer, J.C. and Kunkel, TA. (1994) DNA loop repair by human cell extracts. Science, 266, 814-816.
27. Fishel, R. and Kolodner, R.D. (1995) Identification of mismatch repair genes and their role in the development of cancer. Curr. Opin. Genet. Dev., 5, 382-395.
28. Acharya, S., Wilson, T., Gradia, S., Kane, M.F., Guerrettc, S., Marsischky, G.T., Kolodner, R. and Fishel, R. (1996) hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6. Proc. Natl Acad. Sci. USA, 93, 13629-13634.
29. Drummond, J.T., Li, G.-M., Longley, M.J. and Modrich, P.(1995) Isolation of an hMSH2-p160 heterodimer that restores DNA mismatch repair to tumor cells. Science, 268, 1909-1912.
30. Kramer, P.R., Pearson, C.E. and Sinden, R.R. (1996) Stability of triplet repeats of myotonic dystrophy and fragile X loci in human mulator mismatch repair cell lines. Hum. Genet., 98, 151-157.
31. Pearson, C.E., Ruiz, M.T., Price, G.B. and Zannis-Hadjopoulos, M. (1994) Cruciform DNA binding protein in HeLa cell extracts. Biochemistry, 33, 14185-14196.
32. Pearson, C.E., Zannis-Hadjopoulos, M., Price, G.B. and Zorbas, H. (1994) A novel type of interaction between a cruciform DNA structure and a cruciform binding protein from HeLa cells. EMBO J., 14, 1571-1580.
33. Gaillard, C. and Strauss, F. (1994) Association of poly(CA)-(poly(TG) DNA fragments into four-stranded complexes bound by HMG1 and 2. Science, 264, 433-436.
34. Belotserkovskii, B.P. and Johnston, B.H. (1996) Polypropylene tube surfaces may induce denaturation and multimerization of DNA. Science, 271, 222-223.
35. Alani, E., Lee, S., Kane, M.F., Griffith, J. and Kolodner, R. (1997) Saccharomyces cerevisiae MSH2, a mispair recognition protein, also recognizes Holliday junctions. J. Mol. Biol., 265, 289-301
36. Mello, J.A., Acharya, S. Fishel, R. and Essigman, J.M. (1996) The mismatch repair protein hMSH2 binds selectively to DNA adducts of the anticancer drug cisplatin. Chem. Biol., 3, 579-589.
37. Brown, T.C. and Jiricny, J. (1988) Different base/base mispairs are corrected with different efficiencies and specificities in monkey kidney cells. Cell, 54, 705-711.
38. Jones, M., Wagner, R. and Radman, M. (1987) Repair of a mismatch is influenced by the base composition of the surrounding nucleotide sequence. Genetics, 115, 605-610.
39. Gacy, A.M., Goellner, G., Juranic, N., Macura, S. and McMurray, C.T. (1995) Trinucleotide repeats that expand in human disease form hairpin structures in vitro. Cell, 81, 533-540.
40. Mitas, M., Yu, A., Dill, J., Kamp, T.J., Chambers, E.J. and Haworth, I.S. (1995) Hairpin properties of single-stranded DNA containing a GC-rich triplet repeat: (CTG)15. Nucleic Acids Res., 23, 1050-1059.
41. Smith, G.K., Jie, J., Fox, G.E. and Gao, X. (1995) DNA CTG triplet repeats involved in dynamic mutations of neurobiologically related gene sequences form stable duplexes. Nucleic Acids Res., 23, 4303-4311.
42. Wooster, R., Cleton-Jansen, A.-M., Collins, N., Mangion, J., Cornelis, R.S., Cooper, C.S., Gusterson, B.A., Ponder, B.A.J., von Demling, A., Wiestler, O.D., Cornelisse, C.J., Devilee, P. and Stratton, M.R. (1994) Instability of short tandem repeats (microsatellites) in human cancers. Nature Genet., 6, 152-156.
43. Shibata, D., Peinado, M.A., Ionov, Y., Malkhosyan, S. and Perucho, M. (1994) Genomic instability in repeated sequences is an early somatic event in colorectal tumorigenesis that persists after transformation. Nature Genet., 6, 273-281.
44. Mellon, I. and Champe, G.N. (1995) Products of DNA mismatch repair genes mutS and mutL are required for transcription-coupled nucleotide excision repair of the lactose operon in Escherichia coli. Proc. Natl Acad. Sci. USA, 93, 1292-1297.
45. Mellon, I., Deepak, K.R., Koi, M.C., Boland, R.C. and Champe, G.N. (1996) Transcription-coupled repair deficiency and mutations in human mismatch repair genes. Science, 272, 557-560.
46. Rayssiguier, C., Thaler, D.S. and Radman, M. (1989) The barrier to recombination between Escherichia coli and Salmonella typhimurium is disrupted in mismatch-repair mutants. Nature, 342, 396-401.
47. Bailis, A.M. and Rothstein, R. (1990) A defect in mismatch repair in Saccharomyces cerevisiae stimulates ectopic recombination between homcologous genes by an excision repair dependent process. Genetics, 126, 535-547.
48. Alani, E., Reenan, R.A.G. and Kolodner, R. (1994) Interaction between mismatch repair and genetic recombination in Saccharomyces cerevisiae. Genetics, 137, 19-39.
49. Datta, A., Adjiri, A., New, L., Crouse, G.F. and Jinks-Robertson, S. (1996) Meiotic crossovers between divergent sequences are regulated by mismatch repair proteins in Saccharomyces cerevisiae. Mol. Cell. Biol., 16, 1085-1093.
50. Palombo, F., Gallinari, P., Iaccarino, I., Lettieri, T., Hughes, M., D'Arrigo, A., Truong, O., Hsuan, J.J. and Jiricny, J. (1995) GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells. Science, 268, 1912-1914.
51. Nag, D.K., White, M.A. and Petes, T.D. (1989) Palindromic sequences in heteroduplex DNA inhibit mismatch repair in yeast. Nature, 340, 318-320.
52. Bollag, R.J., Elwood, D.R., Tobin, E.D., Godwin, A.R. and Liskay, R.M. (1992) Formation of heteroduplex DNA during mammalian intrachromasomal gene conversion. Mol. Cell. Biol., 12, 1546-1552.
53. Bohr, V.A. (1991) Gene specific DNA repair. Carcinogenesis, 12, 1983-1992.
54. Trinh, T.Q. and Sinden, R.R. (1991) Preferential DNA secondary structure mutagenesis in the lagging strand of replication in E.coli. Nature, 352, 544-547.
55. Wu, C.-I. and Maeda, N. (1987) Inequality in mutation rates of the two strands of DNA. Nature, 327, 169-170.