Position Independence and Proper Developmental Control of γ-Globin Gene Expression Require both a 5′ Locus Control Region and a Downstream Sequence Element

REFERENCES

• Baron, M. H., and T. Maniatis. 1986. Rapid reprogramming of globin gene expression in transient heterokaryons. Cell 46:591–602.
   PubMed Web of Science ®Google Scholar
• Behringer, R. R., R. E. Hammer, R. L. Brinster, R. D. Palmiter, and T. M. Townes. 1987. Two 3′ sequences direct adult erythroid-specific expression of human β-globin genes in transgenic mice. Proc. Natl. Acad. Sci. USA 84:7056–7060.
   PubMed Web of Science ®Google Scholar
• Behringer, R. R., T. M. Ryan, R. D. Palmiter, R. L. Brinster, and T. M. Townes. 1990. Human γ- to β-globin gene switching in transgenic mice. Genes Dev. 4:380–389.
   PubMed Web of Science ®Google Scholar
• Bodine, D. M., and T. J. Ley. 1987. An enhancer element lies 3′ to the human γ globin gene. EMBO J. 6:2997–3004.
   PubMed Web of Science ®Google Scholar
• Bollekens, J. A., and B. G. Forget. 1991. δ-β-thalassemia and hereditary persistence of fetal hemoglobin. Hematol. Oncol. Clin. N. Am. 5:399–422.
   PubMed Web of Science ®Google Scholar
• Caterina, J. J., T. M. Ryan, K. M. Pawlik, R. D. Palmiter, R. L. Brinster, R. R. Behringer, and T. M. Townes. 1991. Human β-globin locus control region: analysis of the 5′ DNase I hypersensitive site HS 2 in transgenic mice. Proc. Natl. Acad. Sci. USA 88:1626–1630.
   PubMed Web of Science ®Google Scholar
• Chada, K., J. Magram, and F. Costantini. 1986. An embryonic pattern of expression of a human fetal globin gene in transgenice mice. Nature (London) 319:685–689.
   PubMedGoogle Scholar
• Chada, K., J. Magram, K. Raphael, G. Radice, E. Lacy, and F. Costantini. 1985. Specific expression of a foreign β-globin gene in erythroid cells of transgenic mice. Nature (London) 314:377–380.
   PubMed Web of Science ®Google Scholar
• Choi, O. R., and J. D. Engel. 1988. Developmental regulation of β-globin gene switching. Cell 55:17–26.
   PubMed Web of Science ®Google Scholar
• Chomczynski, P., and N. Sacchi. 1987. Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction. Anal. Biochem. 162:156–159.
   PubMed Web of Science ®Google Scholar
• Collis, P., M. Antoniou, and F. Grosveld. 1990. Definition of the minimal requirements within the human β-globin gene and the dominant control region for high level expression. EMBO J. 9:233–240.
   PubMed Web of Science ®Google Scholar
• Cunningham, J. M., M. E. Purucker, S. M. Jane, B. Safer, E. F. Vanin, P. A. Ney, C. H. Lowrey, and A. W. Nienhuis. 1993. The Aγ globin gene 3′ regulatory element binds to the nuclear matrix and interacts with the SAR/MAR binding protein, SATB1. Blood 82(Suppl.):434a.
   Google Scholar
• Curtin, P. T., D. P. Liu, W. Liu, J. C. Chang, and Y. W. Kan. 1989. Human β-globin gene expression in transgenic mice is enhanced by a distant DNase I hypersensitive site. Proc. Natl. Acad. Sci. USA 86:7082.
   PubMed Web of Science ®Google Scholar
• Dillon, N., and F. Grosveld. 1991. Human γ-globin genes silenced independently of other genes in the β globin locus. Nature (London) 350:252–254.
   PubMedGoogle Scholar
• Dillon, N., and F. Grosveld. 1993. Transcriptional regulation of multigene loci: multilevel control. Trends Genet. 9:134–137.
   PubMedGoogle Scholar
• Ellis, J., D. Talbot, N. Dillon, and F. Grosveld. 1993. Synthetic human β-globin 5′ HS2 constructs function as locus control regions only in multicopy transgene concatamers. EMBO J. 12:127–134.
   PubMedGoogle Scholar
• Engel, J. D. 1993. Developmental regulation of human β-globin gene transcription: a switch of loyalties? Trends Genet. 9:304–309.
   PubMedGoogle Scholar
• Enver, T., A. J. Ebens, W. C. Forrester, and G. Stamatoyannopoulos. 1989. The human β-globin locus activation region alters the developmental fate of a human fetal globin gene in transgenic mice. Proc. Natl. Acad. Sci. USA 86:7033–7037.
   PubMedGoogle Scholar
• Enver, T., N. Raich, A. J. Ebens, T. Papayannopoulou, F. Costantini, and G. Stamatoyannopoulos. 1990. Developmental regulation of human fetal-to-adult globin gene switching in transgenic mice. Nature (London) 344:309–313.
   PubMed Web of Science ®Google Scholar
• Epner, E., W. C. Forrester, and M. Groudine. 1988. Asynchronous DNA replication within the human β-globin gene locus. Proc. Natl. Acad. Sci. USA 85:8081–8085.
   PubMedGoogle Scholar
• Epner, E., W. C. Forrester, C. Kim, A. Telling, T. Enver, M. Brice, T. Papayannopoulou, and M. Groudine. 1991. Chromatin structure and DNA replication patterns in normal and mutant β-globin gene loci, p. 153–177. In G. Stamatoyannopoulos, and A. W. Nienhuis (ed.), The regulation of hemoglobin switching. Johns Hopkins University Press, Baltimore.
   Google Scholar
• Felsenfeld, G. 1992. Chromatin as an essential part of the transcriptional mechanism. Nature (London) 355:219–224.
   PubMed Web of Science ®Google Scholar
• Forrester, W. C., E. Epner, M. C. Driscoll, T. Enver, M. Brice, T. Papayannopoulou, and M. Groudine. 1990. A deletion of the human β-globin locus activation region causes a major alteration in chromatin structure and replication across the entire β-globin locus. Genes Dev. 4:1637–1649.
   PubMed Web of Science ®Google Scholar
• Forrester, W. C., U. Novak, R. Gelinas, and M. Groudine. 1989. Molecular analysis of the human β-globin locus activation region. Proc. Natl. Acad. Sci. USA 86:5439–5443.
   PubMed Web of Science ®Google Scholar
• Forrester, W. C., S. Takegawa, T. Papayannopoulou, G. Stamatoyannopoulos, and M. Groudine. 1987. Evidence for a locus activation region: the formation of developmentally stable hypersensitive sites in globin-expressing hybrids. Nucleic Acids Res. 15:10159–10177.
   PubMed Web of Science ®Google Scholar
• Forrester, W. C., C. Thompson, J. T. Elder, and M. Groudine. 1986. A developmentally stable chromatin structure in the human β-globin gene cluster. Proc. Natl. Acad. Sci. USA 83:1359–1363.
   PubMed Web of Science ®Google Scholar
• Fraser, P., J. Hurst, P. Collis, and F. Grosveld. 1990. DNasel hypersensitive sites 1, 2 and 3 of the human β-globin dominant control region direct position-independent expression. Nucleic Acids Res. 18:3503–3508.
   PubMed Web of Science ®Google Scholar
• Fraser, P., S. Pruzina, M. Antoniou, and F. Grosveld. 1993. Each hypersensitive site of the human β-globin locus control region confers a different developmental pattern of expression of the globin genes. Genes Dev. 7:106.
   PubMed Web of Science ®Google Scholar
• Gaensler, K. M., M. Kitamura, and Y. W. Kan. 1993. Germ-line transmission and developmental regulation of a 150-kb yeast artificial chromosome containing the human β-globin locus in transgenic mice. Proc. Natl. Acad. Sci. USA 90:11381–11385.
   PubMedGoogle Scholar
• Grosveld, F., M. Antoniou, M. Berry, E. deBoer, N. Dillon, J. Ellis, P. Fraser, O. Hanscombe, J. Hurst, A. Imam, M. Lindenbaum, S. Philipsen, S. Pruzina, J. Strouboulis, S. Raguz-Bolognesi, and D. Talbot. 1993. The regulation of human globin gene switching. Philos. Trans. R. Soc. Lond. B Biol. Sci. 339:183–191.
   PubMed Web of Science ®Google Scholar
• Grosveld, F., G. B. van Assendelft, D. R. Greaves, and G. Kollias. 1987. Position-independent, high-level expression of the human β-globin gene in transgenic mice. Cell 51:975–985.
   PubMed Web of Science ®Google Scholar
• Hanscombe, O., D. Whyatt, P. Fraser, N. Yannoutsos, D. Greaves, N. Dillon, and F. Grosveld. 1991. Importance of globin gene order for correct developmental expression. Genes Dev. 5:1387–1394.
   PubMedGoogle Scholar
• Jarman, A. P., and D. R. Higgs. 1988. Nuclear scaffold attachment sites in the human globin gene complexes. EMBO J. 11:3337–3344.
   Google Scholar
• Karlinsey, J., G. Stamatoyannopoulos, and T. Enver. 1989. Simultaneous purification of DNA and RNA from small numbers of eukaryotic cells. Anal. Biochem. 18:303–306.
   Google Scholar
• Kollias, G., N. Wrighton, J. Hurst, and F. Grosveld. 1986. Regulated expression of human γ-, β-, and hybrid γ-β-globin genes in transgenic mice: manipulation of the developmental expression patterns. Cell 46:89–94.
   PubMed Web of Science ®Google Scholar
• Liu, D., J. C. Chang, P. Moi, W. Liu, Y. W. Kan, and P. T. Curtin. 1992. Dissection of the enhancer activity of β-globin 5′ DNase I-hypersensitive site 2 in transgenic mice. Proc. Natl. Acad. Sci. USA 89:3899–3903.
   PubMed Web of Science ®Google Scholar
• Lloyd, J. A., J. M. Krakowsky, S. C. Crable, and J. B. Lingrel. 1992. Human γ- to β-globin gene switching using a mini construct in transgenic mice. Mol. Cell. Biol. 12:1561–1567.
   PubMed Web of Science ®Google Scholar
• Morley, B. J., C. A. Abbott, J. A. Sharpe, J. Lida, P. S. Chan-Thomas, and W. G. Wood. 1992. A single β-globin locus control region element (5′ hypersensitive site 2) is sufficient for developmental regulation of human globin genes in transgenic mice. Mol. Cell. Biol. 12:2057–2066.
   PubMedGoogle Scholar
• Morley, B. J., C. A. Abbott, and W. G. Wood. 1991. Regulation of human fetal and adult globin genes in mouse erythroleukemia cells. Blood 78:1355–1363.
   PubMedGoogle Scholar
• Perez-Stable, C., and F. Costantini. 1990. Roles of fetal Gγ-globin promoter elements and the adult β-globin 3′ enhancer in the stage-specific expression of globin genes. Mol. Cell. Biol. 10:1116–1125.
   PubMed Web of Science ®Google Scholar
• Peterson, K. R., C. H. Clegg, C. Huxley, B. M. Josephson, H. S. Haugen, T. Furukawa, and G. Stamatoyannopoulos. 1993. Transgenic mice containing a 248 kb human β locus yeast artificial chromosome display proper developmental control of human globin genes. Proc. Natl. Acad. Sci. USA 90:7593.
   PubMed Web of Science ®Google Scholar
• Philipsen, S., S. Pruzina, and F. Grosveld. 1993. The minimal requirements for activity in transgenic mice of hypersensitive site 3 of the β globin locus control region. EMBO J. 12:1977–1985.
   Google Scholar
• Philipsen, S., D. Talbot, P. Fraser, and F. Grosveld. 1990. The β-globin dominant control region: hypersensitive site 2. EMBO J. 9:2159–2167.
   PubMed Web of Science ®Google Scholar
• Purucker, M., D. Bodine, H. Lin, K. T. McDonagh, and A. W. Nienhuis. 1990. Structure and function of the enhancer 3′ to the human γ globin gene. Nucleic Acids Res. 18:7407–7415.
   PubMed Web of Science ®Google Scholar
• Reitman, M., E. Lee, H. Westphal, and G. Felsenfeld. 1993. An enhancer/locus control region is not sufficient to open chromatin. Mol. Cell. Biol. 13:3990–3998.
   PubMedGoogle Scholar
• Ryan, T. M., R. R. Behringer, N. C. Martin, T. M. Townes, R. D. Palmiter, and R. L. Brinster. 1989. A single erythroid-specific DNase I super-hypersensitive site activates high levels of human β-globin gene expression in transgenic mice. Genes Dev. 3:314–323.
   PubMed Web of Science ®Google Scholar
• Sambrook, J., E. F. Fritsch, and T. Maniatis. 1989. Molecular cloning: a laboratory manual, 2nd ed. Cold Spring Harbor Press, Cold Spring Harbor, N.Y.
   Google Scholar
• Stamatoyannopoulos, G. 1991. Human hemoglobin switching. Science 252:383.
   PubMed Web of Science ®Google Scholar
• Stamatoyannopoulos, G., B. Josephson, J.-W. Zhang, and Q. Li. 1993. Developmental regulation of human γ-globin genes in transgenic mice. Mol. Cell. Biol. 13:7636–7644.
   PubMed Web of Science ®Google Scholar
• Stamatoyannopoulos, G., and A. W. Nienhuis. 1993. Hemoglobin switching, p. 107–155. In G. Stamatoyannopoulos, A. W. Nienhuis, P. Majerus, and H. Varmus (ed.), Molecular basis of blood diseases. W. B. Saunders, Philadelphia.
   Google Scholar
• Strouboulis, J., N. Dillon, and F. Grosveld. 1992. Developmental regulation of a complete 70-kb human β-globin locus in transgenic mice. Genes Dev. 6:1857–1864.
   PubMedGoogle Scholar
• Talbot, D., P. Collis, M. Antoniou, M. Vidal, F. Grosveld, and D. R. Greaves. 1989. A dominant control region from the human β-globin locus conferring integration site-independent gene expression. Nature (London) 338:352–355.
   PubMed Web of Science ®Google Scholar
• Talbot, D., S. Philipsen, P. Fraser, and F. Grosveld. 1990. Detailed analysis of the site 3 region of the human β-globin dominant control region. EMBO J. 9:2169–2178.
   PubMed Web of Science ®Google Scholar
• Thorey, I. S., G. Cecena, W. Reynolds, and R. G. Oshima. 1993. Alu sequence involvement in transcriptional insulation of the keratin 18 gene in transgenic mice. Mol. Cell. Biol. 13:6742–6751.
   PubMedGoogle Scholar
• Townes, T. M., and R. R. Behringer. 1990. Human globin locus activation region (LAR): role in temporal control. Trends Genet. 6:219–223.
   PubMedGoogle Scholar
• Townes, T. M., J. B. Lingrel, H. Y. Chen, R. L. Brinster, and R. D. Palmiter. 1985. Erythroid-specific expression of human β-globin genes in transgenic mice. EMBO J. 4:1715–1723.
   PubMed Web of Science ®Google Scholar
• Tuan, D., and I. M. London. 1984. Mapping of DNase I-hypersen-sitive sites in the upstream DNA of human embryonic e-globin gene in K562 leukemia cells. Proc. Natl. Acad. Sci. USA 81:2718–2722.
   PubMed Web of Science ®Google Scholar
• Tuan, D., W. Solomon, Q. Li, and I. M. London. 1985. The β-like-globin gene domain in human erythroid cells. Proc. Natl. Acad. Sci. USA 82:6384–6388.
   PubMed Web of Science ®Google Scholar
• Tuan, D., W. B. Solomon, I. M. London, and D. P. Lee. 1989. An erythroid-specific, developmental-stage-independent enhancer far upstream of the human “β-like globin” genes. Proc. Natl. Acad. Sci. USA 86:2554–2558.
   PubMedGoogle Scholar
• van Assendelft, G. B., O. Hanscombe, F. Grosveld, and D. R. Greaves. 1989. The β-globin dominant control region activates homologous and heterologous promoters in a tissue-specific manner. Cell 56:969–977.
   PubMed Web of Science ®Google Scholar
• Whitelaw, E., S.-F. Tsai, P. Hogben, and S. H. Orkin. 1990. Regulated expression of globin chains and the erythroid transcription factor GATA-1 during erythropoiesis in the developing mouse. Mol. Cell. Biol. 10:6596–6606.
   PubMed Web of Science ®Google Scholar