Characterization of the human homologue of RAD54: A gene located on chromosome 1p32 at a region of high loss of heterozygosity in breast tumors

Cancer Research

Volumn 57, Issue 12, 1997, Pages 2378-2383

  Rasio, Debora ^a   Murakumo, Yoshiki ^a   Robbins, David ^b   Roth, Tim ^a   Silver, Aaron ^a   Negrini, Massimo ^a   Schmidt, Carl ^b   Burczak, John ^b   Fishel, Richard ^a   Croce, Carlo M ^a  

^a THOMAS JEFFERSON UNIVERSITY   (United States)

^b GLAXOSMITHKLINE   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; DNA FRAGMENT; HELICASE; PROTEIN;

ALPHA THALASSEMIA; ARTICLE; BLOOM SYNDROME; BREAST TUMOR; CANCER SUSCEPTIBILITY; CHROMOSOME 1P; CONTROLLED STUDY; DNA RECOMBINATION; DNA REPAIR; DNA SEQUENCE; GENE DELETION; GENE LOCATION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC EPISTASIS; HETEROZYGOSITY LOSS; HUMAN; HUMAN CELL; HUMAN TISSUE; MENTAL RETARDATION MALFORMATION SYNDROME; PRIORITY JOURNAL; SEQUENCE HOMOLOGY; SEQUENCE TAGGED SITE; WERNER SYNDROME; XERODERMA PIGMENTOSUM;

AMINO ACID SEQUENCE; BASE SEQUENCE; BLOTTING, NORTHERN; BREAST NEOPLASMS; CHROMOSOME DELETION; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 1; EXONS; FUNGAL PROTEINS; HETEROZYGOTE; HUMANS; INTRONS; MOLECULAR SEQUENCE DATA; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SACCHAROMYCES CEREVISIAE PROTEINS; TISSUE DISTRIBUTION; TUMOR CELLS, CULTURED;

EID: 14444278729     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (49)

1. Loeb, L. A. Mutator phenotype may be required for multistage carcinogenesis. Cancer Res., 51: 3075-3079, 1991.
2. Fishel, R. A., Lescoe, M. K., Rao, M. R. S., Copland, N., Jenkins, N., Garber, J., Kane, M., and Kolodner, R. The human mutator gene homolog MSH2 and its association with hereditary nonpolyposis colon cancer. Cell, 75: 1027-1038, 1993.
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., Tannergard, P., Bollag, R. J., Godwin, A. R., Ward, D. C., Nordenskjold, M., Fishel, R., Kolodner, R., and Liskay, R. M. Mutation in the DNA mismatch repair gene homologue hMLH1 is associated with hereditary nonpolyposis colon cancer. Nature (Lond.), 368: 258-261, 1994.
4. Kolodner, R. D., Hall, N. R., Lipford, J., Kane, M. F., Rao, M. R. S., Morrison, P., Wirth, L., Finan, P. J., Burn, J., Chapman, P., Earabino, C., Merchant, E., and Bishop, T. Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations. Genomics, 24: 516-526, 1994.
5. Kolodner, R. D., Hall, N. R., Lipford, J., Kane, M. F., Morrison, P., Finan, P. J., Burn, J., Chapman, P., Erabino, C., Merchant, E., and Bishop, D. T. Structure of the human MLH1 locus and analysis of a large HNPCC kindred for mlh1 mutations. Cancer Res., 55: 242-248, 1995.
6. Moslein, G., Tester, D. J., Lindor, N. M., Honchel, R., Cunningham, J. M., French, A. J., Hailing, K. C., Schwab, M., Goretzki, P., and Thibodeau, S. N. Microsatellite instability and mutation analysis of hMSH2 and hMLH1 in patients with sporadic, familial and hereditary colorectal cancer. Hum. Mol. Genet., 5: 1245-1252, 1996.
7. Fishel, R., and Kolodner, R. D. Identification of mismatch repair genes and their role in the development of cancer. Curr. Opin. Genet. Dev., 5: 382-395, 1995.
8. Lynch, H. T., Smyrk, T., Watson, P., Lanspa, S. J., Boman, B. M., Lynch, P. M., Lynch, J. F., and Cavalieri, J. Hereditary colorectal cancer. Semin. Oncol., 18: 337-366, 1991.
9. Bishop, T. D., and Thomas, H. The genetics of colorectal cancer. Cancer Surv., 9: 585-604, 1990.
10. Lynch, H. T., Smyrk, T. C., Watson, P., Lanspa, S. J., Lynch, J. F., Lynch, P. M., Cavalieri, R. J., and Boland, C. R. Genetics, natural history, tumor spectrum, and pathology of hereditary nonpolyposis colorectal cancer: an updated review. Gastroenterology, 104: 1535-1549, 1993.
11. Siegel, E. C., and Bryson, V. Mutator gene of Escherichia coli B. J. Bacteriol., 94: 38-47, 1967.
12. Reenan, R. A. G., and Kolodner, R. D. Characterization of insertion mutations in the Saccharomyces cerevisiae MSH1 and MSH2 genes: evidence for separate mitochondrial and nuclear functions. Genetics, 132: 975-985, 1992.
13. Bhattacharyya, N. P., Skandalis, A., Ganesh, A., Groden, J., and Meuth, M. Mutator phenotype in human colorectal carcinoma cell lines. Proc. Natl. Acad. Sci. USA, 91: 6319-6323, 1994.
14. Pitot, H. C., Goldsworthy, T., and Moran, S. The natural history of carcinogenesis: implications of experimental carcinogenesis in the genesis of human cancer. J. Supramol. Struct. Cell. Biochem., 17: 133-146, 1981.
15. Balaban, G. B., Herlyn, M., Clark, W. H., Jr., and Nowell, P. C. Karyotypic evolution in human malignant melanoma. Cancer Genet. Cytogenet., 19: 113-122, 1986.
16. Croce, C. M. Role of chromosome translocations in human neoplasia. Cell, 49: 155-156, 1987.
17. Hartwell, L. H., and Weinert, T. A. Checkpoints: controls that ensure the order of cell cycle events. Science (Washington DC), 246: 629-634, 1989.
18. Cheng, K. C., and Loeb, L. A. Genomic Instability and Tumor Progression: Mechanistic Considerations, Vol. 60, p. 121-156. San Diego, CA: Academic Press, Inc., 1993.
19. Friedberg, E. C., Walker, G. C., and Siede, W. DNA Repair and Mutagenesis. Washington, DC: American Society for Microbiology, 1995.
20. Game, J., and Mortimer, R. K. A genetic study of X-ray sensitivity in mutants in yeast. Mutat. Res., 24: 281-292, 1974.
21. Saeki, T., Machida, I., and Nakai, S. Genetic control of diploid recovery after γ-irradiation in the yeast Saccharomyces cerevisiae. Mutat. Res., 73: 251-265, 1980.
22. Malone, R. E., and Esposito, R. E. The rad52 gene is required for homothallic interconversion of mating types and spontaneous milotic recombination in yeast. Proc. Nat. Acad. Sci. USA, 77: 503-507, 1980.
23. White, C. I., and Haber, J. E. Intermediates of recombination during mating type switching in Saccharomyces cerevisiae. EMBO J., 9: 663-673, 1990.
24. Game, J. C. DNA double-strand breaks and the RAD50-RAD57 genes in Saccharomyces. Cancer Biol., 4: 73-83, 1993.
25. Thaler, D. S., and Stahl, F. W. DNA double-chain breaks in recombination of phage 1 and of yeast. Ann. Rev. Genet., 22: 169-197, 1988.
26. Weith, A., Brodeur, G. M., Bruns, G. A. P., Matise, T. C., Mischke, D., Nizetic, D., Seldin, M. F., van Roy, N., and Vance, J. Report of the second international workshop on human chromosome 1 mapping 1995. Cytogenet. Cell Genet., 72: 113-154, 1996.
27. Bieche, I., Champeme, M-H., Matifas, F., Cropp, C. S., Callahan, R., and Lidereau, R. Two distinct regions involved in 1p deletion in human primary breast cancer. Cancer Res., 53: 1990-1994, 1993.
28. Munn, K. E., Walker, R. A., and Varley, J. M. Frequent alterations of chromosome 1 in ductal cacrinoma in situ of the breast. Oncogene, 10: 1653-1657, 1995.
29. Hoggard, N., Brintnell, B., Howell, A., Weissenbach, J., and Varley, J. Allelic imbalance on chromosome 1 in human breast cancer. II. Microsatellite repeat analysis. Genes Chromosomes Cancer, 12: 24-31, 1995.
30. Moley, J. F., Brother, M. B., Fong, C-T., White, P. S., Baylin, S. B., Nelkin, B., Wells, S. A., and Brodeur, G. M. Consistent association of 1p loss of heterozygosity with pheochromocytomas from patients with multiple endocrine neoplasia type-2 syndromes. Cancer Res., 52: 770-774, 1992.
31. Mulligan, L. M., Gardner, E., Smith, B. A., Mathew, C. G., and Ponder, B. A. Genetic events in tumor initiation and progression in multiple endocrine neoplasia type 2. Genes Chromosomes Cancer, 6: 166-177, 1993.
32. Bello, M. J., de Campos, J. M., Kusak, M. E., Vaquero, J., Sarasa, J. L., Pestana, A., and Rey, J. A. Allelic loss at 1p is associated with tumor progression of meningiomas. Genes Chromosomes Cancer, 9: 296-298, 1994.
33. Bello, M. J., Vaquero, J., de Campos, J. M., Kusak, M. E., Sarasa, J. L., Saez-Castresana, J., Pestana, A., and Rey, J. A. Molecular analysis of chromosome 1 abnormalities in human gliomas reveals frequent loss of 1p in oligodendroglial tumors. Int. J. Cancer, 57: 172-175, 1994.
34. Simon, M., von Deimling, A., Larson, J. J., Wellenreuther, R., Kaskel, P., Waha, A., Warnick, R. E., Tew, J. M., Jr., and Menon, A. G. Allelic losses on chromosomes 14, 10, and 1 in atypical and malignant meningiomas: a genetic model of meningioma progression. Cancer Res., 55: 4696-4701, 1995.
35. Matson, S. W., and Kaiser-Rogers, K. A. DNA helicases. Annu. Rev. Biochem., 59: 289-329, 1990.
36. Weeda, G., van Ham, R. C., Vermeulen, W., Bootsma, D., van der Eb, A. J., and Hoeijmakers, J. H. A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome, Cell, 62: 777-791, 1990.
37. Weber, C. A., Salazar, E. P., Stewart, S. A., and Thompson, L. H. ERCC2: cDNA cloning and molecular characterization of a human nucleotide excision repair gene with high homology to yeast RAD3. EMBO J., 9: 1437-1447, 1990.
38. Sung, P., Bailly, V., Weber, C., Thompson, L. H., Prakash, L., and Prakash, S. Human xeroderma pigmentosum group D gene encodes a DNA helicase. Nature (Lond.), 365: 852-855, 1993.
39. Ellis, N. A., Groden, J., Ye, T. Z., Straughen, J., Lennon, D. J., Ciocci, S., Proytcheva, M., and German, J. The Bloom's syndrome gene product is homologous to RecQ helicases. Cell, 83: 655-666, 1995.
40. Yu, C. E., Oshima, J., Fu, Y. H., Wijsman, E. M., Hisama, F., Alisch, R., Matthews, S., Nakura, J., Miki, T., Ouais, S., Martin, G. M., Mulligan, J., and Schellenberg, G. D. Positional cloning of the Werner's syndrome gene. Science (Washington DC), 272: 258-262, 1996.
41. Gibbons, R. J., Picketts, D. J., Villard, L., and Higgs, D. R. Mutations in a putative global transcriptional regulator cause X-linked mental retardation with a-thalassemia (ATR-X Syndrome). Cell, 80: 837-845, 1995.
42. Stayton, C. L., Dabovic, B., Gulisano, M., Gecz, J., Broccoli, V., Giovanazzi, S., Bossolasco, M., Monaco, L., Rastan, S., Boncinelli, E., Bianchi, M. E., and Consalez, G. G. Cloning and characterization of a new human Xq13 gene, encoding a putative helicase. Hum. Mol. Genet., 3: 1957-1964, 1994.
43. Adams, M. D., Kelley, J. M., Gocayne, J. D., Dubnick, M., Polymeropoulos, M. H., Xiao, H., Merril, C. R., Wu, A., Olde, B., Moreno, R. F., et al. Complementary DNA sequencing: expressed sequence tags and human genome project. Science (Washingion DC), 252: 1651-1656, 1991.
44. Troelstra, C., van Gool, A., de Wit, J., Vermeulen, W., Bootsma, D., and Hoeijmakers, J. H. ERCC6, a member of a subfamily of putative helicases, is involved in Cockayne's syndrome and preferential repair of active genes. Cell, 71: 939-953, 1992.
45. Wilson, T. M., Ewel, A., Duguid, J. R., Eble, J. N., Lescoe, M. K., Fishel, R., and Kelley, M. R. Differential cellular expression of the human MSH2 repair protein in small and large intestine. Cancer Res., 55: 5146-5150, 1995.
46. Acharya, S., Wilson, T., Gradia, S., Kane, M. F., Guerrette, S., Marsischky, G. T., Kolodner, R., and Fishel, R. hMSH2 forms specific mispair-binding complexes with hMSH3 and hMSH6. Proc. Nat. Acad. Sci. USA, in press, 1996.
47. de Wind, N., Dekker, M., Berns, A., Radman, M., and te Riele, H. Inactivation of the mouse Msh2 gene results in mismatch repair deficiency, methylation tolerance, hyperrecombination and predisposition to cancer. Cell, 82: 321-330, 1995
48. Reitmair, A. H., Scmits, R., Ewel, A., Bapat, B., Redston, M., Mitri, A., Waterhouse, P., Mittrucker, H-W., Wakeman, A., Liu, B., Thomason, A., Griesser, H., Gallinger, S., Ballhausen, W. G., Fishel, R., and Mak, T. W. MSH2 deficient mice are viable and susceptible to lymphoid tumours. Nat. Genet., 11: 64-70, 1995.
49. Reitmair, A. H., Redston, M., Cat, J. C., Chuang, T. Y. C., Bjerknes, M., Cheng, H., Hay, K., Gallinger, S., Bapat, B., and Mak, T. W. Spontaneous intestinal carcinomas and skin neoplasms in MSH2-deficient mice. Cancer Res., 56: 3842-3849, 1996.