Chromosomal elements regulate gene activity and chromatin structure of the human serpin gene cluster at 14q32.1

Molecular and Cellular Biology

Volumn 23, Issue 10, 2003, Pages 3516-3526

  Marsden, Mark D ^a   Fournier, R E K ^a  

^a Fred Hutchinson Cancer Research Center   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA 1 ANTITRYPSIN; SERINE PROTEINASE INHIBITOR;

ALLELE; ANIMAL CELL; ARTICLE; CHROMATIN STRUCTURE; CHROMOSOME 14Q; DNA FLANKING REGION; ENHANCER REGION; GENE ACTIVATION; GENE CLUSTER; GENE CONTROL; GENE DELETION; GENE EXPRESSION; GENE LOCUS; GENE TRANSFER; GENETIC RECOMBINATION; HUMAN; LIVER CELL; MOUSE; NONHUMAN; PRIORITY JOURNAL; RAT;

ALLELES; ALPHA 1-ANTITRYPSIN; ANIMALS; CHROMATIN; CHROMOSOMES; CHROMOSOMES, HUMAN, PAIR 14; DNA; GENE DELETION; HUMANS; KARYOTYPING; LIVER; MICE; MODELS, GENETIC; MULTIGENE FAMILY; NUCLEIC ACID HYBRIDIZATION; PHENOTYPE; PROMOTER REGIONS (GENETICS); RATS; RECOMBINATION, GENETIC; SERPINS; TRANSFECTION; TUMOR CELLS, CULTURED;

ANIMALIA;

EID: 0037627538     PISSN: 02707306     EISSN: None     Source Type: Journal    
DOI: 10.1128/MCB.23.10.3516-3526.2003     Document Type: Article

References (49)

1. Allan, C. M., S. Taylor, and J. M. Taylor. 1997. Two hepatic enhancers, HCR.1 and HCR.2, coordinate the liver expression of the entire human apolipoprotein E/C-I/C-IV/C-II gene cluster. J. Biol. Chem. 272:29113-29119.
2. Bender, M. A., M. G. Mehaffey, A. Telling, B. Hug, T. J. Ley, M. Groudine, and S. Fiering. 2000. Independent formation of DNase I hypersensitive sites in the murine beta-globin locus control region. Blood 95:3600-3604.
3. Bender, M. A., A. Reik, J. Close, A. Telling, E. Epner, S. Fiering, R. Hardison, and M. Groudine. 1998. Description and targeted deletion of 5′ hypersensitive site 5 and 6 of the mouse beta-globin locus control region. Blood 92:4394-4403.
4. Bender, M. A., J. N. Roach, J. Halow, J. Close, R. Alami, E. E. Bouhassira, M. Groudine, and S. N. Fiering. 2001. Targeted deletion of 5′HS1 and 5′HS4 of the beta-globin locus control region reveals additive activity of the DNase I hypersensitive sites. Blood 98:2022-2027.
5. Buerstedde, J. M., and S. Takeda. 1991. Increased ratio of targeted to random integration after transfection of chicken B cell lines. Cell 67:179-188.
6. Bulla, G. A. 1999. Extinction of α1-antitrypsin expression in cell hybrids is independent of HNF1α and HNF4 and involves both promoter and internal DNA sequences. Nucleic Acids Res. 27:1190-1197.
7. Chaya, D., T. Hayamizu, M. Bustin, and K. S. Zaret. 2001. Transcription factor FoxA (HNF3) on a nucleosome at an enhancer complex in liver chromatin. J. Biol. Chem. 276:44385-44389.
8. Ciliberto, G., L. Dente, and R. Cortese. 1985. Cell-specific expression of a transfected human alpha 1-antitrypsin gene. Cell 41:531-540.
9. Cirillo, L. A., and K. S. Zaret. 1999. An early developmental transcription factor complex that is more stable on nucleosome core particles than on free DNA. Mol. Cell 4:961-969.
10. Costa, R. H., D. R. Grayson, and J. E. J. Darnell. 1989. Multiple hepatocyte-enriched nuclear factors function in the regulation of transthyretin and alpha 1-antitrypsin genes. Mol. Cell. Biol. 9:1415-1425.
11. Danielson, P. E., S. Forss-Petter, M. A. Brow, L. Calavetta, J. Douglass, R. J. Milner, and J. G. Sutcliffe. 1988. p1B15: a cDNA clone of the rat mRNA encoding cyclophilin. DNA 7:261-267.
12. Deschatrette, J., and M. C. Weiss. 1975. Extinction of liver-specific functions in hybrids between differentiated and dedifferentiated rat hepatoma cells. Somatic Cell Genet. 1:279-292.
13. De Simone, V., G. Ciliberto, E. Hardon, G. Paonessa, F. Palla, L. Lundberg, and R. Cortese. 1987. cis- and trans-acting elements responsible for the cell-specific expression of the human alpha 1-antitrypsin gene. EMBO J. 6:2759-2766.
14. Dieken, E. S., E. M. Epner, S. Fiering, R. E. K. Fournier, and M. Groudine. 1996. Efficient modification of human chromosomal alleles using recombination-proficient chicken/human microcell hybrids. Nat. Genet. 12:174-182.
15. Dycaico, M. J., S. G. Grant, K. Felts, W. S. Nichols, S. A. Geller, J. H. Hager, A. J. Pollard, S. W. Kohler, H. P. Short, F. R. Jirik, D. Hanahan, and J. A. Sorge. 1988. Neonatal hepatitis induced by alpha 1-antitrypsin: a transgenic mouse model. Science 242:1409-1412.
16. Engel, J. D., and K. Tanimoto. 2000. Looping, linking, and chromatin activity: new insights into beta-globin locus regulation. Cell 100:499-502.
17. Eszterhas, S. K., E. E. Bouhassira, D. I. Martin, and S. Fiering. 2002. Transcriptional interference by independently regulated genes occurs in any relative arrangement of the genes and is influenced by chromosomal integration position. Mol. Cell. Biol. 22:469-479.
18. Fiering, S., E. Epner, K. Robinson, Y. Zhuang, A. Telling, M. Hu, D. I. Martin, T. Enver, T. J. Ley, and M. Groudine. 1995. Targeted deletion of 5′HS2 of the murine beta-globin LCR reveals that it is not essential for proper regulation of the beta-globin locus. Genes Dev. 9:2203-2213.
19. Grosveld, F. 1999. Activation by locus control regions? Curr. Opin. Genet. Dev. 9:152-157.
20. Han, X., Z. F. Huang, R. Fiehler, and G. J. Broze, Jr. 1999., The protein Z-dependent protease inhibitor is a serpin. Biochemistry 38:11073-11078.
21. Hardon, E. M., M. Frain, G. Paonessa, and R. Cortese. 1988. Two distinct factors interact with the promoter regions of several liver-specific genes. EMBO J. 7:1711-1719.
22. Higgs, D. R., J. A. Sharpe, and W. G. Wood. 1998. Understanding alpha globin gene expression: a step towards effective gene therapy. Semin. Hematol. 35:93-104.
23. Ho, Y., F. Elefant, N. Cooke, and S. Liebhaber. 2002. A defined locus control region determinant links chromatin domain acetylation with long-range gene activation. Mol. Cell 9:291-302.
24. Hug, B. A., R. L. Wesselschmidt, S. Fiering, M. A. Bender, E. Epner, M. Groudine, and T. J. Ley. 1996. Analysis of mice containing a targeted deletion of beta-globin locus control region 5′ hypersensitive site 3. Mol. Cell. Biol. 16:2906-2912.
25. Imhof, A., and A. P. Wolffe. 1998. Transcription: gene control by targeted histone acetylation. Curr. Biol. 8:R422-R424.
26. Kelsey, G. D., S. Povey, A. E. Bygrave, and R. H. Lovell-Badge. 1987, Species and tissue-specific expression of human alpha 1-antitrypsin in transgenic mice. Genes Dev. 1:161-171.
27. Koopman, P., S. Povey, and R. H. Lovell-Badge. 1989. Widespread expression of human alpha 1-antitrypsin in transgenic mice revealed by in situ hybridization. Genes Dev. 3:16-25.
28. Li, Q., S. Harju, and K. R. Peterson. 1999. Locus control regions: coming of age at a decade plus. Trends Genet. 15:403-408.
29. Li, Y., L. Zhou, S. S. Twinings, J. Sugar, and B. Y. J. T. Yue. 1998. Involvement of Sp1 elements in the promoter activity of the α1-proteinase inhibitor gene. J. Biol. Chem. 273:9959-9965.
30. Lugo, T. G., B. Handelin, A. M. Killary, D. E. Housman, and R. E. K. Fournier. 1987. Isolation of microcell hybrid clones containing retroviral vector insertions into specific human chromosomes. Mol. Cell. Biol. 7:2814-2820.
31. Marshall, C. J. 1993. Evolutionary relationships among the serpins. Philos. Trans. R. Soc. Lond. B Biol. Sci. 342:101-119.
32. Monaci, P., A. Nicosia, and R. Cortese. 1988. Two different liver-specific factors stimulate in vitro transcription from the human alpha 1-antitrypsin promoter. EMBO J. 7:2075-2087.
33. Perlino, E., R. Cortese, and G. Ciliberto. 1987. The human alpha 1-antitrypsin gene is transcribed from two different promoters in macrophages and hepatocytes. EMBO J. 6:2767-2771.
34. Peterson, K. R., C. H. Clegg, P. A. Navas, E. J. Norton, T. G. Kimbrough, and G. Stamatoyannopoulos. 1996. Effect of deletion of 5′HS3 or 5′HS2 of the human beta-globin LCR on the developmental regulation of globin expression in beta-YAC transgenic mice. Proc. Natl. Acad. Sci. USA 93:6605-6609.
35. Reik, A., A. Telling, G. Zitnik, D. Cimbora, E. Epner, and M. Groudine. 1998. The locus control region is necessary for gene expression in the human beta-globin locus but not in the maintenance of an open chromatin structure in erythroid cells. Mol. Cell. Biol. 18:5992-6000.
36. Robyr, D., A. Gegonne, A. P. Wolffe, and W. Wahli. 2000, Determinants of vitellogenin B1 promoter architecture. J. Biol. Chem. 275:28291-28300.
37. Rollini, P., and R. E. K. Fournier. 1997. A 370-kb cosmid contig of the serpin gene cluster on human chromosome 14q32.1: molecular linkage of the genes encoding alpha 1-antichymotrypsin, protein C inhibitor, kallistatin, alpha 1-antitrypsin, and corticosteroid-binding globulin. Genomics 46:409-415.
38. Rollini, P., and R. E. K. Fournier. 2000. Differential regulation of gene activity and chromatin structure within the human serpin gene cluster at 14q32.1 in macrophage microcell hybrids. Nucleic Acids Res. 28:1767-1777.
39. Rollini, P., and R. E. K. Fournier. 1999. Long-range chromatin reorganization of the human serpin gene cluster at 14q32.1 accompanies gene activation and extinction in microcell hybrids. Genomics 56:22-30.
40. Rollini, P., L. Xu, and R. E. K. Fournier. 1999. Partial activation of gene activity and chromatin remodeling of the human 14q32.1 serpin gene cluster by HNF-1α and HNF-4 in fibroblast microcell hybrids. Somat. Cell Mol. Genet. 25:207-221.
41. Rollini, P., L. Xu, and R. E. K. Fournier. 2000. Stable expression and cell-specific chromatin structure of human al-antitrypsin cosmid transgenes in rat hepatoma cells. Nucleic Acids Res. 28:3605-3614.
42. Ruther, U., M. Tripodi, R. Cortese, and E. F. Wagner. 1987. The human α1-antitrypsin gene is efficiently expressed from two tissue-specific promoters in transgenic mice. Nucleic Acids Res. 15:7519-7529.
43. Schubeler, D., C. Francastel, D. M. Cimbora, A. Reik, D. I. K. Martin, and M. Groudine. 2000. Nuclear localization and histone acetylation: a pathway for chromatin opening and transcriptional activation of the human betaglobin locus. Genes Dev. 14:940-950.
44. Shapero, M. H., A. A. Langston, and R. E. K. Fournier. 1994. Tissue-specific extinguisher loci in the human genome: a screening study based on random marking and transfer of human chromosomes. Somat. Cell Mol. Genet. 20:215-231.
45. Shen, R. F., S. M. Clift, J. L. DeMayo, M. J. Finegold, and S. L. Woo. 1989. Tissue-specific regulation of human alpha 1-antitrypsin gene expression in transgenic mice. DNA 8:101-108.
46. Sifers, R. N., J. A. Carlson, S. M. Clift, F. J. DeMayo, D. W. Bullock, and S. L. Woo. 1987. Tissue specific expression of the human al-antitrypsin gene in transgenic mice. Nucleic Acids Res. 15:1459-1475.
47. Tripodi, M., C. Abbott, N. Vivian, R. Cortese, and R. Lovell-Badge. 1991. Disruption of the LF-A1 and LF-B1 binding sites in the human α1-antitrypsin gene has a differential effect during development in transgenic mice. EMBO J. 10:3177-3182.
48. Weintraub, H., and M. Groudine. 1976. Chromosomal subunits in active genes have an altered conformation. Science 193:848-856.
49. Yull, F. E., R. M. Wallace, and A. J. Clark. 1995. Restricted tissue-specific but correct developmental expression mediated by a short human alpha 1AT promoter fragment in transgenic mice. Transgenic Res. 4:70-74.