Human Retinoblastoma Gene: Long-Range Mapping and Analysis of Its Deletion in a Breast Cancer Cell Line

LITERATURE CITED

• Bookstein, R., E. Y.-H. P. Lee, H. To, L.-J. Young, T. W. Sery, R. C. Hayes, T. Friedmann, and W.-H. Lee. 1988. Human retinoblastoma susceptibility gene: genomic organization and analysis of heterozygous intragenic deletion mutants. Proc. Natl. Acad. Sci. USA 85:2210–2214.
   PubMed Web of Science ®Google Scholar
• Cavenee, W. K., T. P. Dryja, R. A. Phillips, W. F. Benedict, R. Godbout, B. L. Gallie, A. L. Murphree, L. C. Strong, and R. L. White. 1983. Expression of recessive alleles by chromosomal mechanisms in retinoblastoma. Nature (London) 305:779–784.
   PubMed Web of Science ®Google Scholar
• Chu, G., D. Vollrath, and R. W. Davis. 1986. Separation of large DNA molecules by contour-clamped homogenous electric fields. Science 234:1582–1585.
   PubMed Web of Science ®Google Scholar
• Cockerill, P. N., and W. T. Garrard. 1986. Chromosomal loop anchorage of the kappa immunoglobulin gene occurs next to the enhancer in a region containing topoisomerase II sites. Cell 44:273–282.
   PubMed Web of Science ®Google Scholar
• de Caprio, J. A., J. W. Ludlow, J. Figge, J.-Y. Shew, C.-M. Huang, W.-H. Lee, E. Marsillo, E. Paucha, and D. M. Livingston. 1988. SV40 large tumor antigen forms a specific complex with the product of the retinoblastoma susceptibility gene. Cell 54:275–283.
   PubMed Web of Science ®Google Scholar
• de Klein, A.. 1987. Oncogene activation by chromosomal rearrangement in chronic myelocytic leukemia. Mutat. Res. 186:161–172.
   PubMed Web of Science ®Google Scholar
• den Dunnen, J. T., E. Bakker, E. G. K. Breteler, P. L. Pearson, and G. J. B. van Ommen. 1987. Direct detection of more than 50% of the Duchenne muscular dystrophy mutations by field inversion gels. Nature (London) 329:640–642.
   PubMedGoogle Scholar
• Feinberg, A. P., and B. Vogelstein. 1983. A technique for radiolabeling DNA restriction endonuclease fragments to high specific activity. Anal. Biochem. 132:6–13.
   PubMed Web of Science ®Google Scholar
• Friend, S. H., R. Bernards, S. Rogelj, R. A. Weinberg, J. M. Rapaport, D. M. Albert, and T. P. Dryja. 1986. A human DNA segment with properties of the gene that predisposes to retinoblastoma and osteosarcoma. Nature (London) 323:643–646.
   PubMed Web of Science ®Google Scholar
• Friend, S. H., J. M. Horowitz, M. R. Gerber, X.-F. Wang, E. Bogenmann, F. P. Li, and R. A. Weinberg. 1987. Deletions of a DNA sequence in retinoblastomas and mesenchymal tumors: organization of the sequence and its encoded protein. Proc. Natl. Acad. Sci. USA 84:9059–9063.
   PubMed Web of Science ®Google Scholar
• Fung, Y. K. T., A. L. Murphree, A. T'Ang, J. Qian, S. H. Hinrichs, and W. F. Benedict. 1987. Structural evidence for the authenticity of the human retinoblastoma susceptibility gene. Science 236:1657–1661.
   PubMed Web of Science ®Google Scholar
• Gasser, S. M., and U. K. Laemmli. 1986. Cohabitation of scaffold binding regions with upstream/enhancer elements of three developmentally regulated genes of D. melanogaster. Cell 46:521–530.
   PubMedGoogle Scholar
• Goddard, A. D., H. Balakier, M. Canton, J. Dunn, J. Squire, E. Reyes, A. Becker, R. A. Phillips, and B. L. Gallie. 1988. Infrequent genomic rearrangement and normal expression of the putative RB1 gene in retinoblastoma tumors. Mol. Cell. Biol. 8:2082–2088.
   PubMed Web of Science ®Google Scholar
• Harbour, J. W., S.-L. Lai, J. Whang-Peng, A. F. Gazdar, J. D. Minna, and F. J. Kaye. 1988. Abnormalities in structure and expression of the human retinoblastoma gene in SCLC. Science 241:353–357.
   PubMed Web of Science ®Google Scholar
• Henthorn, P. S., D. L. Mager, T. H. J. Huisman, and O. Smithies. 1986. A gene deletion ending within a complex array of repeated sequences 3′ to the human beta-globin gene cluster. Proc. Natl. Acad. Sci. USA 83:5194–5198.
   PubMed Web of Science ®Google Scholar
• Higgs, D. R., A. V. S. Hill, D. K. Bowden, D. J. Weatherall, and J. B. Clegg. 1984. Independent recombination events between the duplicated human alpha globin genes; implications for their concerted evolution. Nucleic Acids Res. 12:6965–6977.
   PubMed Web of Science ®Google Scholar
• Huang, H.-J. S., J.-K. Yee, J.-Y. Shew, P.-L. Chen, R. Bookstein, T. Friedmann, E. Y.-H. P. Lee, and W.-H. Lee. 1988. Suppression of the neoplastic phenotype by replacement of the retinoblastoma gene product in human cancer cells. Science 242:1563–1566.
   PubMed Web of Science ®Google Scholar
• Kenwrick, S., M. Patterson, A. Speer, K. Fischbeck, and K. Davies. 1987. Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis. Cell 48:351–357.
   PubMedGoogle Scholar
• Koenig, M., E. P. Hoffman, C. J. Bertelson, A. P. Monaco, C. Feener, and L. M. Kunkel. 1987. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organization of the DMD gene in normal and affected individuals. Cell 50:509–517.
   PubMed Web of Science ®Google Scholar
• Lalande, M., T. Donlon, R. A. Petersen, R. Liberfarb, S. Manter, and S. A. Latt. 1986. Molecular detection and differentiation of deletions in band 13q14 in human retinoblastoma. Cancer Genet. Cytogenet. 23:151–157.
   PubMedGoogle Scholar
• Lee, E. Y.-H. P., R. Bookstein, L.-J. Young, C.-J. Lin, M. G. Rosenfeld, and W.-H. Lee. 1988. Molecular mechanism of retinoblastoma gene inactivation in retinoblastoma cell line Y79. Proc. Natl. Acad. Sci. USA 85:6017–6021.
   PubMed Web of Science ®Google Scholar
• Lee, E. Y.-H. P., and W.-H. Lee. 1986. Molecular cloning of the human esterase D gene, a genetic marker of retinoblastoma. Proc. Natl. Acad. Sci. USA 83:6337–6341.
   PubMedGoogle Scholar
• Lee, E. Y.-H. P., H. To, J.-Y. Shew, R. Bookstein, P. Scully, and W.-H. Lee. 1988. Inactivation of the retinoblastoma susceptibility gene in human breast cancers. Science 241:218–221.
   PubMed Web of Science ®Google Scholar
• Lee, W.-H., R. Bookstein, F. Hong, L. J. Young, J. Y. Shew, and E. Y.-H. P. Lee. 1987. Human retinoblastoma susceptibility gene: cloning, identification, and sequence. Science 235:1394–1399.
   PubMed Web of Science ®Google Scholar
• Lee, W.-H., R. Bookstein, and E. Y.-H. P. Lee. 1988. Studies of the human retinoblastoma susceptibility gene. J. Cell. Biochem. 38:213–227.
   PubMedGoogle Scholar
• Lee, W.-H., J. Y. Shew, F. D. Hong, T. W. Sery, L. A. Donoso, L. J. Young, R. Bookstein, and E. Y.-H. P. Lee. 1987. The retinoblastoma susceptibility gene encodes a nuclear phosphoprotein associated with DNA binding activity. Nature (London) 329:642–645.
   PubMed Web of Science ®Google Scholar
• Lehrman, M. A., D. W. Russell, J. L. Goldstein, and M. S. Brown. 1986. Exon-Alu recombination deletes 5 kilobases from the low density lipoprotein receptor gene, producing a null phenotype in familial hypercholesterolemia. Proc. Natl. Acad. Sci. USA 83:3679–3683.
   PubMed Web of Science ®Google Scholar
• Lehrman, M. A., D. W. Russell, J. L. Goldstein, and M. S. Brown. 1987. Alu-Alu recombination deletes splice acceptor sites and produces secreted low density lipoprotein receptor in a subject with familial hypercholesterolemia. J. Biol. Chem. 262:3354–3361.
   PubMedGoogle Scholar
• Maniatis, T., E. F. Fritsch, and J. Sambrook. 1982. Molecular cloning: A laboratory manual. Cold Spring Harbor Laboratory, Cold Spring Harbor, New York.
   Google Scholar
• Mendoza, A. E., J.-Y. Shew, E. Y.-H. P. Lee, R. Bookstein, and W.-H. Lee. 1988. A case of synovial sarcoma with abnormal expression of the human retinoblastoma susceptibility gene. Hum. Pathol. 19:487–489.
   PubMed Web of Science ®Google Scholar
• Myerowitz, R., and N. D. Hogikyan. 1987. A deletion involving Alu sequences in the beta-hexosaminidase alpha-chain gene of French Canadians with Tay-Sachs disease. J. Biol. Chem. 262:15396–15399.
   PubMedGoogle Scholar
• Nicholls, R. D., N. Fischel-Ghodsian, and D. R. Higgs. 1987. Recombination at the human alpha-globin gene cluster: sequence features and topological constraints. Cell 49:369–378.
   PubMed Web of Science ®Google Scholar
• Orkin, S. H., and H. H. Kazazian, Jr.. 1984. The mutation and polymorphism of the human beta-globin gene and its surrounding DNA. Annu. Rev. Genet. 18:131–171.
   PubMed Web of Science ®Google Scholar
• Rubnitz, J., and S. Subramani. 1984. The minimum amount of homology required for homologous recombination in mammalian cells. Mol. Cell. Biol. 4:2253–2258.
   PubMed Web of Science ®Google Scholar
• Sanger, F., S. Nicklen, and A. R. Coulson. 1977. DNA sequencing with chain-terminating inhibitors. Proc. Natl. Acad. Sci. USA 74:5463–5467.
   PubMed Web of Science ®Google Scholar
• Smith, C. L., and C. R. Cantor. 1987. Strategies for cloning and mapping macroregions of mammalian genomes. Methods Enzymol. 151:461–488.
   PubMedGoogle Scholar
• Sparkes, R. S., M. C. Sparkes, M. G. Wilson, J. W. Towner, W. Benedict, A. L. Murphree, and J. J. Yunis. 1980. Regional assignment of genes for human esterase D and retinoblastoma to chromosome band 13q14. Science 208:1042–1044.
   PubMed Web of Science ®Google Scholar
• T'Ang, A., J. M. Varley, S. Chakraborty, A. L. Murphree, and Y.-K. T. Fung. 1988. Structural rearrangement of the retinoblastoma gene in human breast carcinoma. Science 242:263–266.
   PubMed Web of Science ®Google Scholar
• Toguchida, J., K. Ishizaki, M. S. Sasaki, M. Ikenaga, M. Sugimoto, Y. Kotoura, and T. Yamamuro. 1988. Chromosomal reorganization for the expression of recessive mutation of retinoblastoma susceptibility gene in the development of osteosarcoma. Cancer Res. 48:3939–3943.
   PubMed Web of Science ®Google Scholar
• Vanin, E. F., P. S. Henthorn, D. Kioussis, F. Grosveld, and O. Smithies. 1983. Unexpected relationships between four large deletions in the human beta-globin gene cluster. Cell 35:701–709.
   PubMed Web of Science ®Google Scholar
• Vnencak-Jones, C. L., J. A. Phillips HI, E. Y. Chen, and P. H. Seeberg. 1988. Molecular basis of human growth hormone gene deletions. Proc. Natl. Acad. Sci. USA 85:5615–5619.
   PubMedGoogle Scholar
• Whyte, P., K. J. Buchkovich, J. M. Horowitz, S. H. Friend, M. Raybuck, R. A. Weinberg, and E. Harlow. 1988. Association between an oncogene and an anti-oncogene: the adenovirus E1A proteins bind to the retinoblastoma gene product. Nature (London) 334:124–129.
   PubMed Web of Science ®Google Scholar
• Wiggs, J., M. Nordenskjöld, D. Yandell, J. Rapaport, V. Grondin, M. Janson, B. Werelius, R. Petersen, A. Craft, K. Riedel, R. Liberfarb, D. Walton, W. Wilson, and T. Dryja. 1988. Prediction of the risk of hereditary retinoblastoma, using DNA polymorphisms within the retinoblastoma gene. N. Engl. J. Med. 318:151–157.
   PubMed Web of Science ®Google Scholar