Stability of triplet repeats of myotonic dystrophy and fragile X loci in human mutator mismatch repair cell lines

Human Genetics

Volumn 98, Issue 2, 1996, Pages 151-157

  Kramer, Phillip R ^a   Pearson, Christopher E ^a   Sinden, Richard R ^a  

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

Author keywords

[No Author keywords available]

Indexed keywords

MICROSATELLITE DNA; REPETITIVE DNA; TRINUCLEOTIDE;

ARTICLE; BASE MISPAIRING; CODON; DNA POLYMORPHISM; DNA REPAIR; FRAGILE X SYNDROME; GENE MUTATION; GENETIC STABILITY; HUMAN; HUMAN CELL; MYOTONIC DYSTROPHY; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SOUTHERN BLOTTING;

BASE SEQUENCE; CELL LINE; DNA REPAIR; FEMALE; FRAGILE X SYNDROME; HUMANS; MALE; MINISATELLITE REPEATS; MUTATION; MYOTONIC DYSTROPHY; PEDIGREE; POLYMERASE CHAIN REACTION; TRINUCLEOTIDE REPEATS;

EID: 0029930837     PISSN: 03406717     EISSN: None     Source Type: Journal    
DOI: 10.1007/s004390050179     Document Type: Article

References (56)

1. Aaltonen LA, Peltomaki P, Leach FS, Sistonen P, Pylkkanen L, Mecklin J, Jarvinen H, Powell SM, Jen J, Hamilton SR, Peterson GM, Kinzler K W, Vogelstein B, Chapelle A de la (1993) Clues to the pathogenesis of familial colorectal cancer. Science 260:812-815
2. Ashizawa T, Dubel JR, Dunne PW, Dunne CJ, Fu Y-H, Pizzuti A, Caskey CT, Boerwinkle E, Perryman MB, Epstein HF, Hejtmancik JF (1992) Anticipation in myotonic dystrophy. II. Complex relationships between clinical findings and structure of the CTO repeat. Neurology 42:1877-1883
3. Brattain MG, Fine WD, Mahnaz-Khaled F, Thompson J, Brattain DE (1981) Heterogeneity of malignant cells from a human colonie carcinoma. Cancer Res 41:1751 -1756
4. Bronner CE, Baker SM, Morrison PT, Warren G, Smith LG, Lescoe MK, Kane M, Earabino C, Lipford J, Lindblom A, Tannergard P, Bollag RJ, Godwin AR, Ward DC, Nordenskjold M, Fishel R, Kolodner R, Liskay RM (1994) Mutation in the DNA mismatch repair gene homologue hMLHI is associated with hereditary non-polyposis colon cancer. Nature 368:258-261
5. Chastain PD, Eichler EE, Kang S, Nelson DL, Levene SD, Sinden RR (1995) Anomalous rapid electrophoretic mobility of DNA containing triplet repeats associated with human disease genes. Biochemistry 34: 16125-16131
6. Chong SS, Eichler EE, Nelson DL, Hughes MR (1994) Robust amplification and ethidium-visible detection of the fragile X syndrome CGG repeat using Pfu polymerase. Am J Med Genet 51:522-526
7. Drewinko B, Romsdahl MM, Yang LY, Ahearn MJ, Trujillo JM (1976) Establishment of a human carcinoembryonic antigenproducing colon adenocarcinoma cell line. Cancer Res 36:467-475
8. Drummond JT, Li G-M. Longley MJ, Modrich P (1995) Isolation of an hMSHl p 160 heterodimer that restores DNA mismatch repair to tumor cells. Science 268:1909-1912
9. Eichler EE, Holden JJA, Popovich BW, Reiss AL, Snow K, Thibodeau SN, Richards CS, Ward PA, Nelson DL (1994) Length of uninterrupted CGG repeats determine instability in the FMR1 gene. Nat Genet 8:88-94
10. Fishel R, Kolodner RD (1995) Identification of mismatch repair genes and their role in the development of cancer. Curr Biol 5:382-395
11. Fishel R, Lescoe MK, Rao MRS, Copeland NO, Jenkins NA, Garber J, Kane M, Kolodner R (1993) The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell 75:1027-1038
12. Fu Y-H, Kuhl DPA, Pizzuti A, Pieretti M, Sutcliffe JS, Richards S, Verkerk AJMH, Holden JJA, Fenwick RG Jr, Warren ST, Oostra BA, Nelson DL, Caskey CT (1991) Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell 67:1047-1058
13. Gacy AM, Goellner G, Juranic N, Macura S, McMurry CT (1995) Trinucleotide repeats that expand in human disease form hairpin structures in vitro. Cell 81:533-540
14. Gao X, Huang X, Smith GK, Zheng M, Liu H (1995) A new antiparallel duplex motif of DNA CCG repeats that is stabilized by extrahelical bases symmetrically localized in the minor groove. J Am Chem Soc 117:8883-8884
15. Graaff E, Rouillard P, Willems PJ, Smits APT, Rousseau F, Oostra BA (1995) Hotspot for deletions in the CGG repeat region of FMR-I in fragile X patients. Hum Mol Genet 4:45-49
16. Grilley M, Welsh KM, Su S, Modrich P (1989) Isolation and characterization of the Escherichia cali mitL gene product. J Biol Chem 264:1000-1004
17. Horii A, Man HJ, Sasali S, Shimada M, Nakamura Y (1994) Cloning, characterization and chromosomal assignment of the human genes homologous to yeast PMSI, a member of mismatch repair genes. Biochem Biophys Res Commun 204:1257-1264
18. Ionov Y, Peinado MA, Malkbosyan S, Shibata D, Perucho M (1993) Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonie carcinogenesis. Nature 363:558-561
19. n repeat variation and selection against extreme expansion in sperm. Am J Hum Genet 54:575-585
20. n triplet repeats from human hereditary diseases. Proc Natl Acad Sci USA 92:11019-11023
21. Jiricny J (1995) Colon cancer and DNA repair: have mismatches met their match? Trends Genet 10:164-168
22. Kang S, Jaworski A, Ohshima K, Wells RD (1995) Expansion and deletion of CTG triplet repeats from human disease genes are determined by the direction of replication in E. coli. Nat Genet 10:213-218
23. Koi M, Umar A, Chauhan DP, Cherian SP, Carethers JM, Kunkel TA, Boland CR (1994) Human chromosome 3 corrects mismatch repair deficiency and microsatellite instability and reduces N-methyl-N'-nitro-A'-nitroguanidine tolerance in colon tumor cells with homozygous hMLHl mutation. Cancer Res 54:4308-4312
24. Kunst CB, Warren ST (1994) Cryptic and polar variation of the fragile X repeat could result in predisposing normal alleles. Cell 77: 853-861
25. 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 GJ, Meltzer PS, Yu J-W, Kao F-T, Chen DA, Cerosaletti KM, Fournier REK, Todd S, Lewis T, Leach RJ, Naylor SL, Weissenback J, Mecklin JP, Jarvinen H, Petersen GM, Hamilton SR, Green J, Jass J, Watson P, Lynch HT, Trent JM, Chapelle A de la, Kinzler KW, Vogelstein B (1993) Mutations of a mutS homolog in hereditary nonpolyposis colorectal cancer. Cell 75:1215-1225
26. Lupski JR, Oca-Luna RM de, Slaugenhaupt S, Pentao L, Guzzetta V, Trask BJ, Saucedo-Cardenas O, Barker DF, Killian JM, Garcia CA, Chakravarti A, Patel PI (1991) DNA duplication associated with Charcot-Marie-Tooth disease type 1A. Cell 66: 219-232
27. Mahadevan M, Tsilfidis C, Sabourin L, Shutler G, Amemiya C, Jansen G, Neville C, Narang M, Barcelo J, O'Hoy K, Leblond S, Earle-McDonald J, Jons PJ de, Wieringa B, Korneluk RG (1992) Myotonic dystrophy mutation: an unstable CTG repeat in the 3′ untranslated region of the gene. Science 255:1253-1255
28. anti base pairs. Biochemistry 34: 12803-12811
29. 15 Nucleic Acids Res 23:1050-1059
30. New L, Liu K, Grouse GF (1993) The yeast gene MSH3 defines a new class of eukaryotic MutS homologues. Mol Gen Genet 239:97-108
31. Nicolaides NC, Papadopoulos N, Liu B, Wel Y-F, Carter KC, Ruben SM, Rosen CA, Maschine WA, Fleishmann RD, Fraser CM, Adams MA, Venter JC, Dunlop MG, Hamillton SR, Peterson GM, la Chapelle A de, Vogelstein B, Kinzler KW (1994) Mutations of two PMS homologues in hereditary nonpolyposis colon cancer. Nature 371:75-80
32. Nussbaum RL, Airhart SD, Ledbetter DH (1986) Recombinational and amplification of pyrimidine-rich sequences may be responsible for initiation and progression of the Xq27 fragile site: an hypothesis. Am J Hum Genet 23:715-721
33. O'Hoy KL, Tsilfidis C, Mahadevan MS, Neville CE, Barcelo J, Hunter AGW, Korneluk RG (1993) Reduction in size of the myotonic dystrophy trinucleotide repeat mutation during transmission. Science 259:809-812
34. Palombo F, Gallinari P, Iaccarino I, Lettieri T, Hughes M, D'Arrigo A, Truong O, Hsuan JJ, Jiricny J (1995) GTBP, a 160-kilodalton protein essential for mismatch-binding activity in human cells. Science 268:1912-1914
35. Papadopoulos N, Nicolaides NC, Wei Y, Ruben SM, Carter KC, Rosen CA, Haseltine WA, Fleischmann RD, Fraser CM, Adams MD, Venter JC, Hamilton SR, Petersen GM, Watson P, Lynch HT, Peltomaki P, Mecklin J, Chapelle A de la, Kinzler KW, Vogelstein B (1994) Mutation of a mutL homolog in hereditary colon cancer. Science 263:1625-1629
36. Papadopoulos N, Nicolaides NC, Liu B, Parsons R, Lengauer C, Palombo F, D'Arrigo A, Markowitz M, Willson JKV, Kinzler KW, Jiricny J, Vogelstein B (1995) Mutations of GTBP in genetically unstable cells. Science 268:1915-1917
37. Parsons R, Li G, Longley M, Modrich P, Liu B, Berk T, Hamilton S R, Kinzler KW, Vogelstein B (1995) Mismatch repair deficiency in phenotypically normal human cells. Science 268: 738-740
38. Pearson CE, Sinden RR (1996) Alternative structures in duplex DNA formed within the trinucleotide repeats of the myotonic dystrophy and fragile X loci. Biochemistry 35:5041-5053
39. Pieretti M, Zhang F, Fu Y-H, Warren ST, Oostra BA, Caskey CT, Nelson DL (1991) Absence of expression of the FMR-1 gene in fragile-X syndrome. Cell 66:817-822
40. Puck TT, Marcus PI, Cieciura SJ (1956) Clonal growth of mammalian cells in vitro. J Exp Med 103:273-284
41. Richards RI, Sutherland GR (1994) Simple repeated DNA is not replicated simply. Nat Genet 6:114-116
42. Risinger JJ, Umar A, Barrett JC, Kunkel TA (1995) A hPBS2 mutant cell line is defective in strand-specific mismatch repair. J Biol Chem 270:18183-18186
43. Shelbourne P, Winqvist R, Kunert E, Davies J, Leisti J, Johnson K (1992) Unstable DNA may be responsible for the incomplete penetrance of the mytotonic dystrophy phenotype. Hum Mol Genet 1:467-473
44. Sinden RR, Wells RD (1992) DNA structure, mutations, and human genetic disease. Curr Opin Biotechnol 3:612-622
45. Smith GP (1976) Evolution of repeated DNA sequences by unequal crossover. Science 191:528-535
46. Streisinger G, Okada Y, Emrich J, Newton J, Tsugita A, Terzaghi E, Inouye M (1966) Frameshift mutations and the genetic code. Cold Spring Harb Symp Quant Biol 31:77-84
47. Su SS, Modrich P (1986) Escherichia coli wutS-encoded protein binds to mismatched DNA base pairs. Proc Natl Acad Sci USA 83:5057-5061
48. Surh LC, Mahadevan M, Korneluk RG (1994) Analysis of trinucleotide repeats in myotonic dystrophy. In: Ausubel FA, Brent R, Kingston RE, Moore DD, Seidman JG, Smith JA, Struhl K (eds) Current protocols in molecular biology. Greene Publishing and Wiley-Interscience, New York, pp 9.6.1-9.6.13
49. Sutherland GR, Richards RI (1995) Simple tandem DNA repeats and human genetic disease. Proc Natl Acad Sci USA 92:3636-3641
50. Thibodeau SN, Bren G, Schaid D (1993) Microsatellite instability in cancer of the proximal colon. Science 260:816-819
51. Umar A, Boyer JC, Kunkel TA (1994a) DNA loop repair by human cell extracts. Science 266:814-816
52. Umar A, Boyer JC, Thomas DC, Nguyen DC, Risinger JI, Boyd J, Ionov Y, Perucho M, Kunkel TA (1994b) Defective mismatch repair in extracts of colorectal and endometrial cancer cell lines exhibiting microsatellite instability. J Biol Chem 269:14367-14370
53. Wohrle D, Hennig I, Vogel W, Steinbach P (1993) Mitotic stability of fragile X mutations in differentiated cells indicates early post-conceptional trinucleotide repeat expansion. Nat Genet 4: 107-108
54. Wohrle D, Kennerknect I, Wolf M, Enders H, Schwemmle S, Steinbach P (1995) Heterogeneity of DM kinase repeat expansion in different fetal tissues and further expansion during cell proliferation in vitro: evidence for a causal involvement of methyl-directed DNA mismatch repair in triplet repeat stability. Hum Mol Genet 4:1147-1 153
55. Wong L-JC, Ashizawa T, Monckton DG, Caskey CT, Richards CS (1995) Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent. Am J Hum Genet 56:114-122
56. Wooster R, Cleton-Jansen A-M, Collins N, Mangion J, Cornelis RS, Cooper CS, Gusterson BA, Ponder BAJ, Deimling A von, Wiestler OD, Cornelisse CJ, Devilee P, Stratton MR (1994) Instability of short tandem repeats (microsatellites) in human cancers. Nat Genet 6:152-156