Persistent fetal γ-globin expression in adult transgenic mice following deletion of two silencer elements located 3′ to the human Aγ-globin gene

Molecular Medicine

Volumn 15, Issue 11-12, 2009, Pages 415-424

  Gazouli, Maria ^a,b   Katsantoni, Eleni ^b   Kosteas, Theodoros ^c   Anagnou, Nicholas P ^a,b  

^a UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^b BIOMEDICAL RESEARCH FOUNDATION   (Greece)

^c INSTITUTE OF MOLECULAR BIOLOGY AND BIOTECHNOLOGY   (Greece)

Author keywords

[No Author keywords available]

Indexed keywords

AGAMMA GLOBIN; GAMMA GLOBIN; UNCLASSIFIED DRUG;

AGAMMAGLOBULINEMIA; ANIMAL EXPERIMENT; ARTICLE; CONTROLLED STUDY; GENE DELETION; GENE SILENCING; GENE SWITCHING; IN VIVO STUDY; MOUSE; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; REGULATOR GENE; REGULATORY SEQUENCE; SILENCER ELEMENT; TRANSGENIC MOUSE;

ANIMALS; FETAL PROTEINS; GAMMA-GLOBINS; GENE DELETION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MICE; MICE, TRANSGENIC; POLYMERASE CHAIN REACTION; SILENCER ELEMENTS, TRANSCRIPTIONAL;

EID: 73249129925     PISSN: 10761551     EISSN: None     Source Type: Journal    
DOI: 10.2119/molmed.2009.00019     Document Type: Article

References (60)

1. Grosveld F, van Assendelft GB, Greaves DR, Kollias G. (1987) Position-independent, high-level expression of the human β-globin gene in transgenic mice. Cell. 51:975-85.
2. Ragoczy T, Bender MA, Telling A, Byron R, Groudine M. (2006) The locus control region is required for association of the murine β-globin locus with engaged transcription factories during erythroid maturation. Genes. Dev. 20:1447-57.
3. Felsenfeld G, Groudine M. (2003) Controlling the double helix. Nature. 421:448-53.
4. Strouboulis J, Dillon N, Grosveld F. (1992) Developmental regulation of a complete 70-kb human β-globin locus in transgenic mice. Genes. Dev. 6:1857-64.
5. Townes TM, Behringer RR. (1990) Human globin locus activation region (LAR): role in temporal control. Trends Genet. 6:219-23.
6. Brand M, et al. (2004) Dynamic changes in transcription factor complexes during erythroid differentiation revealed by quantitative proteomics. Nat. Struct. Mol. Biol. 11:73-80.
7. Ley TJ, et al. (1982) 5-azacytidine selectively increases γ-globin synthesis in a patient with β+ thalassemia. N. Engl. J. Med. 307:1469-75.
8. Gilman JG, Huisman THJ. (1985) DNA sequence variation associated with elevated fetal Gγ globin production. Blood. 66:783-7.
9. Creary LE, et al. (2009) Genetic variation on chromosome 6 influences F cell levels in healthy individuals of African descent and HbF levels in sickle cell patients. PLoS ONE. 4:e4218.
10. Sankaran VG, et al. (2008) Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science. 322:1839-42.
11. Thein SL, Menzel S. (2009) Discovering the genetics underlying foetal haemoglobin production in adults. Brit. J. Haematol. 145:455-67.
12. Ragusa A, et al. (1992) Genetic epidemiology of β-thalassemia in Sicily: do sequences 5′ to the Gγ gene and 5′ to the β gene interact to enhance HbF expression in β-thalassemia? Am. J. Hematol. 40:199-206.
13. Gonçalves I, et al. (1998) Combined effect of two different polymorphic sequences within the β globin gene cluster on the level of HbF. Am. J. Hematol. 57:269-76.
14. Gonçalves I, et al. (2002) Fetal hemoglobin elevation in Hb Lepore heterozygotes and its correlation with β-globin cluster linked determinants. Am. J. Hematol. 69:95-102.
15. Bandyopadhyay S, et al. (2005) Two β-globin cluster-linked polymorphic loci in thalassemia patients of variable levels of fetal hemoglobin. Eur. J. Haematol. 75:47-53.
16. Wood WG. (1993) Increased HbF in adult life. Baillieres Clin. Haematol. 6:177-213.
17. Huisman TH, et al. (1974) The present status of the heterogeneity of fetal hemoglobin in β-thalassemia: an attempt to unify some observations in thalassemia and related conditions. Ann. N. Y. Acad. Sci. 232:107-24.
18. Flavell RA, et al. (1983) Structure and expression of the human globin genes and murine histocompatibility antigen genes. Cold Spring Harb. Symp. Quant. Biol. 47:1067-78.
19. Anagnou NP, et al. (1995) Sequences located 3? to the breakpoint of the hereditary persistence of fetal hemoglobin-3 deletion exhibit enhancer activity and can modify the developmental expression of the human fetal Aγ-globin gene in transgenic mice. J. Biol. Chem. 270:10256-63.
20. Katsantoni EZ, et al. (2003) Persistent γ-globin expression in adult transgenic mice is mediated by HPFH-2, HPFH-3, and HPFH-6 breakpoint sequences. Blood. 102:3412-9.
21. Arcasoy MO, et al. (1997) High levels of human γ-globin gene expression in adult mice carrying a transgene of deletion-type hereditary persistence of fetal hemoglobin. Mol. Cell Biol. 17:2076-89.
22. Kosteas T, Manifava M, Moschonas N, Anagnou NP. (1993) Functional analysis of the Aγ to ψβ globin gene region of the human â-locus: evidence for negative regulatory elements. Clin. Res. 41:38A.
23. Kosteas T, Manifava M, Moschonas N, Anagnou NP. (1994) Functional analysis of the Aγ to δ globin gene region of the â-cluster: evidence for negative regulatory elements. Blood. 84:506A.
24. Dillon N, Grosveld F. (1991) Human γ-globin genes silenced independently of other genes in the β-globin locus. Nature. 350:252-4.
25. Gaensler KM, et al. (2003) Sequences in the Aγ-δ intergenic region are not required for stagespecific regulation of the human β-globin gene locus. Proc. Natl. Acad. Sci. U. S. A. 100:3374-9.
26. Liu Q, Tanimoto K, Bungert J, Engel JD. (1998) The Aγ-globin 3′ element provides no unique function(s) for human β-globin locus gene regulation. Proc. Natl. Acad. Sci. U. S. A. 95:9944-9.
27. Katsantoni EZ, et al. (2004) An embryonic-specific repressor element located 3′ to the Aγ-globin gene influences transcription of the human β-globin locus in transgenic mice. Exp. Hematol. 32:224-33.
28. Dillon N, Grosveld F. (1993) Transcriptional regulation of multigene loci: multilevel control. Trends Genet. 9:134-7.
29. Sakai K, Miyazaki J. (1997) A transgenic mouse line that retains Cre recombinase activity in mature oocytes irrespective of the cre transgene transmission. Biochem. Biophys. Res. Commun. 237:318-24.
30. Milot E, et al. (1996) Heterochromatin effects on the frequency and duration of LCR-mediated gene transcription. Cell. 87:105-14.
31. Lindenbaum MH, Grosveld F. (1990) An in vitro globin gene switching model based on differentiated embryonic stem cells. Genes. Dev. 4:2075-85.
32. Fraser P, Hurst J, Collis P, Grosveld F. (1990) DNaseI hypersensitive sites 1, 2 and 3 of the human β-globin dominant control region direct position-independent expression. Nucleic Acids Res. 18:3503-8.
33. Pfaffl MW. (2001) A new mathematical model for relative quantification in real-time RT-PCR. Nucleic Acids Res. 29:e45.
34. Mulder MP, et al. (1995) Positional mapping of loci in the DiGeorge critical region at chromosome 22q11 using a new marker (D22S183). Hum. Genet. 96:133-41.
35. Schmidt M, et al. (2002) Polyclonal long-term repopulating stem cell clones in a primate model. Blood. 100:2737-43.
36. Yamada Y, et al. (2003) Neuropilin-1 on hematopoietic cells as a source of vascular development. Blood. 101:1801-9.
37. Kollias G, Wrighton N, Hurst J, Grosveld F. (1986) Regulated expression of human Aγ-, β-, and hybrid γβ-globin genes in transgenic mice: manipulation of the developmental expression patterns. Cell. 46:89-94.
38. Collis P, Antoniou M, Grosveld F. (1990) Definition of the minimal requirements within the human β-globin gene and the dominant control region for high level expression. EMBO J. 9:233-40.
39. Enver T, Ebens AJ, Forrester WC, Stamatoyannopoulos G. (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. U. S. A. 86:7033-7.
40. Lloyd JA, Krakowsky JM, Crable SC, Lingrel JB. (1992) Human γ- to β-globin gene switching using a mini construct in transgenic mice. Mol. Cell Biol. 12:1561-7.
41. Bodine DM, Ley TJ. (1987) An enhancer element lies 3′ to the human Aγ globin gene. EMBO J. 6:2997-3004.
42. Purucker M, Bodine D, Lin H, McDonagh K, Nienhuis AW. (1990) Structure and function of the enhancer 3′ to the human Aγ globin gene. Nucleic Acids Res. 18:7407-15.
43. Chakalova L, et al. (2005) The Corfu δβ thalassemia deletion disrupts γ-globin gene silencing and reveals post-transcriptional regulation of HbF expression. Blood. 105:2154-60.
44. Anagnou NP, Karlsson S, Moulton AD, Keller G, Nienhuis AW. (1986) Promoter sequences required for function of the human γ-globin gene in erythroid cells. EMBO J. 5:121-6.
45. Ragoczy T, Telling A, Sawado T, Groudine M, Kosak ST. (2002) A genetic analysis of chromosome territory looping: diverse roles for distal regulatory elements. Chromosome Res. 11:513-25.
46. Omori A, Tanabe O, Engel JD, Fukamizu A, Tanimoto K. (2005) Adult stage γ-globin silencing is mediated by a promoter direct repeat element. Mol. Cell Biol. 25:3443-51.
47. Harju S, Navas PA, Stamatoyannopoulos G, Peterson KR. (2005) Genome architecture of the human β-globin locus affects developmental regulation of gene expression. Mol. Cell Biol. 25:8765-78.
48. Dillon N, Trimborn T, Strouboulis J, Fraser P, Grosveld F. (1997) The effect of distance on longrange chromatin interactions. Mol. Cell. 1:131-9.
49. Hanscombe O, et al. (1991) Importance of globin gene order for correct developmental expression. Genes. Dev. 5:1387-94.
50. Peterson KR, et al. (1993) Transgenic mice containing a 248-kb yeast artificial chromosome carrying the human β-globin locus display proper developmental control of human globin genes. Proc. Natl. Acad. Sci. U. S. A. 90:7593-7.
51. Tanimoto K, Liu Q, Bungert J, Engel JD. (1999) Effects of altered gene order or orientation of the locus control region on human β-globin gene expression in mice. Nature. 398:344-8.
52. Noordermeer D, de Laat W. (2008) Joining the loops: β-globin gene regulation. IUBMB Life. 60:824-33.
53. Palstra R-J, et al. (2003) The β-globin nuclear compartment in development and erythroid differentiation. Nat. Genet. 35:190-4.
54. Keys JR, et al. (2008) A mechanism for Ikaros regulation of human globin gene switching. Brit. J. Haematol. 141:398-406.
55. Stamatoyannopoulos G, Grosveld F. (2001) Hemoglobin switching. In: The Molecular Basis of Blood Diseases. Stamatoyannopoulos G, Majerus P, Perlmutter R, Varmus H (eds.) W.B. Saunders, Philadelphia, pp. 135-82.
56. van Bekkum NL, Dekker J. (2009) Determining spatial chromatin organization of large genomic regions using 5C technology. Methods Mol. Biol. 567:189-213.
57. Raich N, Clegg CH, Grofti J, Roméo PH, Stamatoyannopoulos G. (1995) GATA1 and YY1 are developmental repressors of the human ε-globin gene. EMBO J. 14:801-9.
58. Rupon JW, Wang SZ, Gaensler K, Lloyd J, Ginder GD. (2006) Methyl binding domain protein 2 mediates γ-globin gene silencing in adult human βYAC transgenic mice. Proc. Natl. Acad. Sci. U. S. A. 103:6617-22.
59. Liu Q, Bungert J, Engel JD. (1997) Mutation of gene-proximal regulatory elements disrupts human ε-, γ-, and β-globin expression in yeast artificial chromosome transgenic mice. Proc. Natl. Acad. Sci. U. S. A. 94:169-74.
60. Calzolari R, McMorrow T, Yannoutsos N, Langeveld A, Grosveld F. (1999) Deletion of a region that is a candidate for the difference between the deletion forms of hereditary persistence of fetal hemoglobin and δβ- thalassemia affects β- but not γ-globin gene expression. EMBO J. 18:949-58.