Stability of microsatellites and minisatellites in Bloom syndrome, a human syndrome of genetic instability

Mutation Research - DNA Repair

Volumn 362, Issue 3, 1996, Pages 227-236

  Foucault, Frédéric ^a,d   Buard, Jérôme ^b   Praz, Françoise ^a,d   Jaulin, Christian ^a,d   Stoppa Lyonnet, Dominique ^c   Vergnaud, Gilles ^b   Amor Guéret, Mounira ^a,d  

^a INSTITUT JACQUES MONOD   (France)

^b INSTITUT DE BIOLOGIE   (France)

^c INSTITUT CURIE   (France)

^d IOCMH   (France)

Author keywords

Bloom syndrome; DNA repair; Microsatellite; Minisatellite; Sister chromatid exchange

Indexed keywords

DNA MINISATELLITE;

ARTICLE; BLOOM SYNDROME; DNA REPAIR; FIBROBLAST; HUMAN; HUMAN CELL; MUTATION RATE; PRIORITY JOURNAL; SISTER CHROMATID EXCHANGE;

EID: 0029975070     PISSN: 09218777     EISSN: None     Source Type: Journal    
DOI: 10.1016/0921-8777(95)00047-X     Document Type: Article

References (42)

1. Aaltonen, L.A., Peltomäki, P., Leach, F.S., Sistonen, P., Pylkkänen, L., Mecklin, J.P., Järvinen, H., Powell, S.M., Jen, J., Hamilton, S.R., Petersen, G.M., Kinzler, K.W., Vogelstein, B. and A. de la Chapelle (1993) Clues to the pathogenesis of familial colorectal cancer, Science, 260, 812-816.
2. Bhattacharyya, N.P., Skandalis, A., Ganesh, A., Groden, J. and M. Meuth (1994) Mutator phenotypes in human colorectal carcinoma cell lines, Proc. Natl. Acad. Sci. USA, 91, 6319-6323.
3. Bronner, C.E., Baker, S.M., Morrison, P.T., Warren, G., Smith, L.G., Lescoe, M.K., Kane, M., Earabino, C., Lipford, J., Lindblom, A., Tannergård, P., Bollag, R.J., Godwin, A.R., Ward, D.C., Nordenskjφld, M., Fishel, R., Kolodner, R. and R.M. Liskay (1994) Mutation in the DNA mismatch repair homologue hMLH1 is associated with hereditary non-polyposis colon cancer, Nature, 368, 258-261.
4. Buard, J. and G. Vergnaud (1994) Complex recombination events at the hypermutable minisatellite CEB1 (D2S90), EMBO J., 13, 3203-3210.
5. Cannon-Albright, L.A., Goldgar, D.E., Meyer, L.J., Lewis, C.M., Anderson, D.E., Fountain, J.W., Hegi, M.E., Wiseman, R.W., Petty, E.M., Bale, A.E. Olopade, O.I., Diaz, M.O., Kwiatkowski, D.J., Piepkorn, M.W., Zone, J.J. and M.H. Skolnick (1992) Assignment of a locus for familial melanoma, MLM, to chromosome 9p13-p22, Science, 258, 1148-1151.
6. Damagnez, V., Doutriaux, M.-P. and M. Radman (1989) Saturation of mismatch repair in the mutD5 mutator strain of Escherichia coli, J. Bacteriol., 171, 4494-4496.
7. Feinstein, S.L. and K.B. Low (1986) Hyper-recombining recipient strains in bacterial conjugation, Genetics, 113, 13-33.
8. Fishel, R., Lescoe, M.K., Rao, M.R.S., Copeland, N.G., Jenkins, N.A., Garber, J., Kane, M. and R. Kolodner (1993) The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer, Cell, 75, 1027-1038.
9. Futreal, P.A., Barret, J.C. and R.W. Wiseman (1992) Dinucleotide repeat polymorphism in the THRA1 gene, Hum. Mol. Genet., 1, 66.
10. German, J. (1974) Bloom's syndrome II. The prototype of human genetic disorder predisposing to chromosome instability and cancer, in: German J. (Ed.), Chromosomes and Cancer. Wiley, New York, pp. 601-617.
11. German, J. (1993) Bloom syndrome: a mendelian prototype of somatic mutational disease, Medicine, 72, 393-406.
12. Groden, J., and J. German (1992) Bloom's syndrome. XVIII. Hypermutability at a tandem-repeat locus, Hum. Genet., 90, 360-367.
13. Gyapay, G., Morissette, J., Vignal, A., Dib, C., Fizames, C., Millasseau, P., Marc, S., Bernardi, G., Lathrop, M., and J. Weissenbach (1994) The 1993-94 Genethon human genetic linkage map, Nature Genet., 7, 246-339.
14. Hall, J.M., Friedman, L., Guenther, C., Lee, M.K., Weber, J.L., Black, D.M. and M.C. King (1992) Closing in on a breast cancer gene on chromosome 17q, Am. J. Hum. Genet., 50, 1235-1242.
15. Hazan, J., Dubay, C., Pankowiac, M.P., Becuwe, N. and J.A. Weissenbach (1992) A genetic linkage map of human chromosome 20 composed entirely of microsatellite markers, Genomics, 12, 183-189.
16. Ionov, Y., Peinado, M.A., Malkosyan, S., Shibata, D. and M. Perucho (1993) Ubiquitous somatic mutations in simple repeated sequences reveal a new mechanism for colonic carcinogenesis, Nature, 363, 558-561.
17. Jeffreys, A.J., Royle, N.J., Wilson, V. and Z. Wong (1988) Spontaneous mutation rates to new alleles at tandem-repetitive hypervariable loci in human DNA, Nature, 332, 278-281.
18. Jeffreys, A.J., Tamaki, K., MacLeod, A., Monckton, D.G., Neil, D.L. and J.A.L. Armour (1994) Complex gene conversion events in germline mutation at human minisatellites, Nature Genet., 6, 136-145.
19. Kapsetaki, M., Kokkinaki, M., Angelicheva, D., Lubyova, B., Mavraki, H., Argyrokastritis, A., Vergnaud, G., Ferguson-Smith, M., Rubinsztein, D.C., Lush, M. and N.K. Moschonas (1994) The EUROGEM map of human chromosome 10 in European gene mapping project (EUROGEM): genetic maps based on the CEPH reference families (N.K., Spurr, S.P., Bryant et al., Eds.), S. Karger AG (Basel/Switzerland), Vol. 2, pp. 193-252.
20. Kwiatkowski, D.J. and M.O. Diaz (1992) Dinucleotide repeat polymorphism at the IFNα locus 9p22, Hum. Mol. Genet., 1, 658.
21. Leach, F.S., Nicolaides, N.C., Papadopoulos, N., Liu, B., Jen, J., Parsons, R., Peltomäki, P., Sistonen, P., Aaltonen, L.A., Nystrom-Lahti, M., Guan, X.-Y., Zhang, J., Meltzer, P.S., Yu, J.W., Kao, F.T., Chen, D.J., Cerosaletti, K.M., Fournier, R.E.K., Todd, S., Lewis, T., Leach, R.J., Naylor, S.L., Weissenbach, J., Mecklin, J.-P., Järvinen, H., Petersen, G.M., Hamilton, S.R., Green, J., Jass, J., Watson, P., Lynch, H.T., Trent, J.M., de la Chapelle, A., Kinzler, K.W. and B. Vogelstein (1993) Mutation of a mutS homolog in hereditary non-polyposis colorectal cancer, Cell, 75, 1215-1225.
22. Levinson, G. and G.A. Gutman (1987) High frequencies of short frameshifts in poly-CA/TG tandem repeats borne by bacteriophage M13 in Escherichia coli K-12, Nucleic Acids Res., 15, 5323-5338.
23. Marineau, C., Baron, C., Delatti, O., Zucman, J., Thomas, G. and G.A. Roeau (1993) Dinucleotide repeat polymorphism at the D22S268 locus, Hum. Mol. Genet., 2, 336.
24. Nakamura, Y., Culver, M., Sergeant, L., Leppert, M., O'Connell, P., Lathrop, G.M., Lalouel, J.M. and R. Whithe (1988) Isolation and mapping of a polymorphic DNA sequence (pYNZ2) on chromosome 1p (D1S57), Nucleic Acids Res., 16, 4747.
25. Nicolaides, N.C, Papadopoulos, N., Liu, B., Wei, Y.-F., Carter, K.C., Ruben, S.M., Rosen, C.A., Haseltine, W.A., Fleischmann, R.D., Fraser, C.M., Adams, M.D., Venter, J.C., Dunlop, M.G., Hamilton, S.R., Petersen, G.M., de la Chapelle, A., Vogelstein, B. and K.W. Kinzler (1994) Mutations of two PMS homologues in hereditary nonpolyposis colon cancer, Nature, 371, 75-80.
26. Olaisen, B., Bekkemoen, M., Hoff-Olsen, P. and P. Gill (1993) Human VNTR mutation and sex, in: S.D.J. Pena, R. Chakraborty, J.T. Epplenand A.J. Jeffreys (Eds.), DNA Fingerprinting: State of the Science, Birkhäuser Verlag (Basel/Switzerland), Vol. 67, pp. 63-69.
27. + tumor cells, Cell, 75, 1227-1236.
28. Peltomäki, P., Aaltonen, L.A., Sistonen, P., Pylkkänen, L., Mecklin, J.-P., Järvinen, H., Green, J.S., Jass, J.R., Weber, J.L., Leach, F.S., Petersen, G.M., Hamilton, S.R., de la Chapelle, A. and B. Vogelstein (1993) Genetic mapping of a locus predisposing to human colorectal cancer. Science, 260, 810-812.
29. Shibata, D., Peinado, M.A., Ionov, Y., Malkhosyan, S. and M. Perucho (1994) Genomic instability in repeated sequences is an early somatic event in colorectal tumorigenesis that persists after transformation, Nature Genet., 6, 273-281.
30. Shiraishi, Y., Yosida, T.H. and A.A. Sandberg (1983) Analysis of bromodeoxyuridine-associated sister chromatid exchanges (SCEs) in Bloom syndrome based on cell fusion: single and twin SCEs in endoreduplication, Proc. Natl. Acad. Sci. USA, 80, 4369-4373.
31. Shiraishi, Y. and Y. Ohtsuki (1987) SCE levels in Bloom syndrome cells at very low bromodeoxyuridine (BrdU) concentrations: monoclonal anti-BrdU antibody, Mutation Res., 176, 157-164.
32. Sirover, M.A., Vollberg, T.M. and G. Seal (1990) DNA repair and the molecular mechanisms of Bloom's syndrome, Oncogenesis, 2, 19-33.
33. Strand, M., Prolla, T.A., Liskay, R.M. and T.D. Petes (1993) Destabilization of tracts of simple repetitive DNA in yeast by mutations affecting DNA mismatch repair, Nature, 365, 274-276.
34. Thibodeau, S.N., Bren, G. and D. Schaid (1993) Microsatellite instability in cancer of the proximal colon. Science, 260, 816-819.
35. Thomas, D.C., Roberts, J.D. and T.A. Kunkel (1991) Heteroduplex repair in extracts of human HeLa cells, J. Biol. Chem., 266, 3744-3751.
36. Vergnaud, G., Mariat, D., Apiou, F., Aurias, A. Lathrop, M. and V. Lauthier (1991) The use of synthetic tandem repeats to isolate new VNTR loci: cloning of a human hypermutable sequence, Genomics, 11, 135-144.
37. Vijayalaxmi, Evans, H.J., German, J., Ray, J.H. and J. German (1983) Bloom's syndrome: evidence for an increased mutation frequency in vivo, Science, 221, 851-853.
38. Warren, ST., Schultz, R.A., Chang, C.-C., Wade, M.H. and J.E. Trosko (1981) Elevated spontaneous mutation rate in Bloom syndrome fibroblasts, Proc. Natl. Acad. Sci. USA, 78, 3133-3137.
39. Weber, J.L., Kwitek, A.E., May, P.E., Wallace, M.R., Collins, F.S. and D.H. Ledbetter (1990) Dinucleotide repeat polymorphism at the D17S250 and D17S261 loci, Nucleic Acids Res., 18, 4640.
40. Willis, A.E. and T. Lindahl (1987) DNA ligase deficiency in Bloom's syndrome, Nature, 325, 355-357.
41. Willis, A.E., Spurr, N.K. and T. Lindahl (1989) Concomitant reversion of the characteristic phenotypic properties of a cell line of Bloom syndrome origin, Careinogenesis, 10, 217-219.
42. Wolff, S. and P. Perry (1974) Differential Giemsa staining of sister chromatids and the study of sister chromatid exchanges without autoradiography, Chromosoma, 48, 341-353.