High frequency in vivo loss of heterozygosity is primarily a consequence of mitotic recombination

Cancer Research

Volumn 57, Issue 6, 1997, Pages 1188-1193

  Gupta, Pawan K ^a,d   Sahota, Amrik ^a   Boyadjiev, Simeon A ^a   Bye, Steven ^a   Shao, Changshun ^a   Patrick O'Neill, J ^b   Hunter, Timothy C ^b   Albertini, Richard J ^b   Stambrook, Peter J ^c   Tischfieid, Jay A ^a  

^a INDIANA UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b UNIVERSITY OF VERMONT   (United States)

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

^d THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

2,6 DIAMINOPURINE; ADENINE PHOSPHORIBOSYLTRANSFERASE;

ARTICLE; BREAST CANCER; CHROMOSOME SATELLITE ASSOCIATION; CONTROLLED STUDY; GENE FREQUENCY; GENETIC RECOMBINATION; GENETIC RESISTANCE; HETEROZYGOSITY LOSS; HUMAN; HUMAN CELL; MOLECULAR CLONING; PRIORITY JOURNAL; SOMATIC CELL GENETICS; TUMOR SUPPRESSOR GENE;

2-AMINOPURINE; ADENINE PHOSPHORIBOSYLTRANSFERASE; CHROMOSOME MAPPING; CLONE CELLS; DRUG RESISTANCE; FEMALE; GENE DELETION; GENE REARRANGEMENT, T-LYMPHOCYTE; HETEROZYGOTE; HUMANS; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; MALE; MICROSATELLITE REPEATS; MITOSIS; POINT MUTATION; RECOMBINATION, GENETIC; T-LYMPHOCYTES; THIOGUANINE;

EID: 0030890994     PISSN: 00085472     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (40)

1. Knudson, A. G., Jr. Hereditary cancer, oncogenes and antioncogenes. Cancer Res., 45: 1437-1443, 1985.
2. Loeb, L. A. Mutator phenotype may be required for multistage carcinogenesis. Cancer Res., 51: 3075-3079, 1991.
3. Stanbridge, E. J. Human suppressor genes. Annu. Rev. Genet., 24: 615-657, 1990.
4. Levine, A. J. The tumor suppressor gene. Annu. Rev. Biochem., 62: 623-651, 1993.
5. Meuth, M. The structure of mutation in mammalian cells. Biochim. Biophys. Acta, 1032: 1-17, 1990.
6. Albertini, R. J., Nicklas, J. A., O'Neill, J. P., and Robison, S. H. In vivo somatic mutations in humans: measurement and analysis. Annu. Rev. Genet., 24: 305-326, 1990.
7. Phear, G., Armstrong, W., and Meuth, M. Molecular basis of spontaneous mutation at the Aprt locus of hamster cells. J. Mol. Biol., 209: 577-582, 1989.
8. de Jong, P. J., Grosovsky, A. J., and Glickman, B. W. Spectrum of spontaneous mutation at the APRT locus of Chinese hamster ovary cells: an analysis at the DNA sequence level. Proc. Natl. Acad. Sci. USA, 85: 3499-3503, 1988.
9. Yandell, D. W., Dryja, T. P., and Little, J. B. Somatic mutations at a heterozygous autosomal locus in human cells occur more frequently by allele loss than intragenic structural alteration. Somatic Cell Mol. Genet., 12: 255-263, 1986.
10. Amundson, S. A., Fortunato, J. E., and Liber, H. L. Heritable alterations at the adenine phosphoribosyltransferase (APRT) locus in human lymphoblastoid cell lines. Mutat. Res., 284: 287-295, 1992.
11. Hanvood, J., and Meuth, M. Deletion mapping of highly conserved transcribed sequence downstream from APRT locus. Somatic Cell Mol. Genet., 21: 151-160, 1995.
12. Dobo, K. L., Giver, C. R., Eastmond, D. A., Rumbos. H. S., and Grosovsky, A. J. Extensive loss of heterozygosity accounts for differential mutation rate on chromosome 17q in human lymphoblasts. Mutagenesis, 10: 53-58, 1995.
13. Amundson, S. A., and Liber, H. L. A comparison of induced mutation at homologous alleles of the tk locus in human cells. Mutat. Res., 247: 19-27, 1991.
14. Amundson S. A., and Liber H. L. A comparison of induced mutation at homologous alleles of the tk locus in human cells. II. Molecular analysis of mutants. Mutat. Res., 267: 89-95, 1992.
15. Simmonds, H. A., Sahota, A., and Van Acker, K. J. Adenine phosphoribosyltransferase deficiency and 2,8-dihydroxyadenine lithiasis. In: C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle (eds.), The Metabolic and Molecular Bases of Inherited Disease. 7th edition, pp. 1707-1724. New York: McGraw-Hill, Inc., 1995.
16. Broderick, T. P., Schaff, D. A., Bertino, A. M., Dush, M. K., Tischfield, J. A., and Stambrook, P. J. Comparative anatomy of the human APRT gene and enzyme: nucleotide sequence divergence and conservation of a nonrandom CpG dinucleotide arrangement. Proc. Natl. Acad. Sci., USA. 84: 3349-3353, 1987.
17. Chen, J., Sahota, A., Martin, G. F., Hakoda, M., Kamatani, N., Stambrook, P. J., and Tischfield. J. A. Analysis of germline and in vivo somatic mutations in the human APRT gene: mutational hot spots at the intron 4 splice donor site and at codon 87. Mutat. Res., 257: 217-225, 1993.
18. Klinedinst, D. K., and Drinkwater, N. R. Reduction to homozygosity is the predominant spontaneous mutational event in cultured human lymphoblastoid cells. Mutat. Res., 250: 365-374, 1991.
19. O'Neill, J. P., McGinniss, M. J., Berman, J. K., Sullivan, L. M., Nicklas. J. A., and Albertini, R. J. Refinement of a T-lymphocyte cloning assay to quantify the in vivo thioguanine-resistant mutant frequency in humans. Mutagenesis, 2: 87-94, 1987.
20. Nicklas, J. A., O'Neill, J. F., and Albetini, R. J. Use of TCR gene probe to quantify the m vivo HPRT mutations in human T-lymphocytes. Mutat. Res., 173: 67-72, 1986.
21. Gyapay, G., Morissette, J., Vignal, A., Dib, C., Fizames, C., Millasseau, P., Marc, S., Bernardi, G., Lathrop, M., and Weissenbach, J. The 1993-1994 Genethon human genetic linkage map. Nat. Genet., 7: 246-339, 1994.
22. Doggett, N. A., Goodwin, L. A., Tesmer, L. J., Meincke, L. J., Bruce, D. C., and Clark, L. M., Altherr, M. R., Ford, A. A., Chi, H. C., Marrone, B. L., Longmire, J. L., Lane, S. A., Wmtmore, S. A., Lowenstein, M. G., Sutherland, R. D., Mundt, M. O., Knill, E. H., Bruno, W. J., Macken, C. A., Torrey, D. C., Wu, J-R-., Griffith, J., Sutherland, G. R., Deaven, L. L., Gallen, D. F., and Moyzis, R. K. An integrated physical map of human chromosome 16. Nature (Lond.), 377 (suppl.): 335-365, 1995.
23. Weber, J. L. Informativeness of human (dC-dA)n.(dG-dT)n polymorphisms. Genomics, 7: 524-530, 1990.
24. Thompson, A. D., Shen, Y., Holman, K., Sutherland, G. R., Callen, D. F., and Richards, R. I. Isolation and characterization of (AC)n microsatellite genetic markers from human chromosome 16. Genomics, 13: 402-408, 1992.
25. Chen, J., Sahota, A., Laxdal, T., Serine, M., Bowman, S., Cui, C., Stambrook, P. J., and Tischfield, J. A. Identification of a single missense mutation in the APRT gene in five Icelandic patients and a British patient. Am. J. Hum. Genet., 49: 1306-1311, 1991.
26. Boyadjiev, S. A., Sahota, A., and Tischfield, J. A. Identification and application of polymorphisms flanking the human adenine phosphoribosyltransferase gene. Hum. Mutat., 8: 214-215, 1996.
27. Chen, J., Sahota, A., Stambrook, P. J., and Tischfield, J. A. Polymerase chain reaction amplification and sequence analysis of human mutant adenine phosphoribosyltransferase genes: the nature and frequency of errors caused by Taq DNA polymerase. Mutat. Res., 249: 169-176, 1991.
28. Greig, G. M., England, S. B., Bedford, H. M., and Willard, H. F. Chromosome-specific α-satellite DNA from the centromere of human chromosome 16. Am. J. Hum. Genet., 45: 862-872, 1989.
29. O'Neill, J. P., Nicklas, J. A., Hunter, T. C., Batson, O. D., Allegretta, M., Falta, M. T., Branda, R. F., and Albertini, R. J. The effect of T-lymphocyte 'clonality' on the calculated HPRT mutant frequency occurring in vivo in humans. Mutat. Res., 313: 215-225, 1994.
30. Cavenee, W. K., Dryja, T. P., Phillips, R. A., Benedict, W. F., Godbout, R., Gallie, B. L., Murphree, A. L., Strong, L. C., and White, R. L. Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature (Lond.), 305: 779-784, 1983.
31. Li, C-Y., Yandell, D. W., and Little, J. B. Molecular mechanisms of spontaneous and induced loss of heterozygosity in human cells in vitro. Somatic Cell Mol. Genet., 18: 77-87, 1992.
32. Ward, M. A., Yu, M., Glickman, B. W., and Grosovsky, A. J. Loss of heterozygosity in mammalian cell mutagenesis: molecular analysis of spontaneous mutations at the APRT locus in CHO cells. Carcinogenesis (Lond.), II: 1485-1490, 1990.
33. Zhu, Y., Stambrook, P. J., and Tischfield, J. A. Loss of heterozygosity: the most frequent cause of recessive phenotype expression at the heterozygous human adenine phosphoribosyltransferase locus. Mol. Carcinog., 8: 138-144, 1993.
34. Smith, L. E., and Grosovsky, A. J. Genetic instability on chromosome 16 in a human B lymphoblastoid cell line. Somatic Cell Mol. Genet., 19: 515-527, 1993.
35. Morley, A. A., Grist, S. A., Turner, D. R., Kutlaca, A., and Bennett, G. Molecular nature of in vivo mutations in human cells at the autosomal HLA-A locus. Cancer Res., 50: 4584-4587, 1990.
36. Tsuda, H., Callen, D. F., Fukutomi, T., Nakamura, Y., and Hirohashi, S. Allele loss on chromosome 16q24.2-qter occurs frequently in breast cancers irrespectively of differences in phenotype and extent of spread. Cancer Res., 54: 513-517, 1994.
37. Cleton-Jansen, A. M., Moerland, E. W., Kuiperes-Dijkshoorn, N. J., Gallen, D. F., Sutherland, G. R., Hansen, B., Devilee, P., and Cornelisse, C. J. At least two different regions are involved in allelic imbalance on chromosome arm 16q in breast cancer. Genes Chromosomes & Cancer, 9: 101-107, 1994.
38. Dorion-Bonnet, F., Mautalen, S., Hostein, I., and Longy, M. Allelic imbalance study of 16q in human primary breast carcinomas using microsatellite markers. Genes Chromosomes & Cancer, 14: 171-181, 1995.
39. Aldaz, C. M., Chen, T., Sahin, A., Cunningham, J., and Bondy, M. Comparative allelotype of in situ and invasive human breast cancer: high frequency of microsatellite instability in lobular breast carcinomas. Cancer Res., 55: 3976-3981, 1995.
40. Tsuda, H., Zhang, W. D., Shimosato, Y., Yokota, J., Terada, M., Sugimura, T., Miyamura, T., and Hirohashi, S. Allele loss on chromosome 16 associated with progression of human hepatocellular carcinoma. Proc. Natl. Acad. Sci. USA, 87: 6791-6794, 1990.