Regulation of human alpha-globin gene expression and alpha-thalassemia

Genetics and Molecular Research

Volumn 7, Issue 4, 2008, Pages 1045-1053

  Ribeiro, D M ^a   Sonati, M F ^a  

^a UNIVERSITY OF CAMPINAS   (Brazil)

Author keywords

Alpha major regulatory element; Gene expression; Globin genes; Hemoglobin; HS 40; Thalassemia

Indexed keywords

ALPHA GLOBIN; REGULATOR PROTEIN;

ALPHA 1 GLOBIN GENE; ALPHA 2 GLOBIN GENE; ALPHA THALASSEMIA; BAY REGION BINDING SITE; CHROMOSOME 16; FRAGMENTATION REACTION; GENE ACTIVITY; GENE CONTROL; GENE EXPRESSION; GENE EXPRESSION REGULATION; GENE FUNCTION; GENE INACTIVATION; GLOBIN GENE; GLOBIN SYNTHESIS; HUMAN; NONHUMAN; REGULATORY SEQUENCE; SHORT SURVEY;

ALPHA-GLOBINS; ALPHA-THALASSEMIA; GENE EXPRESSION REGULATION; HUMANS; REGULATORY SEQUENCES, NUCLEIC ACID;

EID: 56749175033     PISSN: None     EISSN: 16765680     Source Type: Journal    
DOI: 10.4238/vol7-4gmr472     Document Type: Short Survey

References (45)

1. Andrews NC, Erdjument-Bromage H, Davidson MB, Tempst P, et al. (1993). Erythroid transcription factor NF-E2 is a haematopoietic-specific basic-leucine zipper protein. Nature 362: 722-728.
2. Anguita E, Sharpe JA, Sloane-Stanley JA, Tufarelli C, et al. (2002). Deletion of the mouse alpha-globin regulatory element (HS -26) has an unexpectedly mild phenotype. Blood 100: 3450-3456.
3. Anguita E, Hughes J, Heyworth C, Blobel GA, et al. (2004). Globin gene activation during haemopoiesis is driven by protein complexes nucleated by GATA-1 and GATA-2. EMBO J. 23: 2841-2852.
4. Beutler E, Lichtman MA, Coller BS, Kipps TJ, et al. (2001). Williams Hematology. McGraw-Hill Companies, NewYork.
5. Bunn HF and Forget BG (1986). Hemoglobin: Molecular, Genetics, and Clinical Aspects. 3rd edn. W.B. Saunders Company, Philadelphia.
6. Craddock CF, Vyas P, Sharpe JA, Ayyub H, et al. (1995). Contrasting effects of alpha and beta globin regulatory elements on chromatin structure may be related to their different chromosomal environments. EMBO J. 14: 1718-1726.
7. De Gobbi M, Viprakasit V, Hughes JR, Fisher C, et al. (2006). A regulatory SNP causes a human genetic disease by creating a new transcriptional promoter. Science 312: 1215-1217.
8. De Gobbi M, Anguita E, Hughes J, Sloane-Stanley JA, et al. (2007). Tissue-specific histone modification and transcription factor binding in alpha globin gene expression. Blood 110: 4503-4510.
9. Drissen R, Palstra RJ, Gillemans N, Splinter E, et al. (2004). The active spatial organization of the β-globin locus requires the transcription factor EKLF. Genes Dev. 18: 2485-2490.
10. Flint J, Craddock CF, Villegas A, Bentley DP, et al. (1994). Healing of broken human chromosomes by the addition of telomeric repeats. Am. J. Hum. Genet. 55: 505-512.
11. Flint J, Rochette J, Craddock CF, Dode C, et al. (1996). Chromosomal stabilisation by a subtelomeric rearrangement involving two closely related Alu elements. Hum. Mol. Genet. 5: 1163-1169.
12. Forrester WC, Takegawa S, Papayannopoulou T, Stamatoyannopoulos G, et al. (1987). Evidence for a locus activation region: the formation of developmentally stable hypersensitive sites in globin-expressing hybrids. Nucleic Acids Res. 15: 10159-10177.
13. Fritsch EF, Lawn RM and Maniatis T (1980). Molecular cloning and characterization of the human β-like globin gene cluster. Cell 19: 959-972.
14. Gourdon G, Sharpe JA, Wells D, Wood WG, et al. (1994). Analysis of a 70 kb segment of DNA containing the human ζ and alpha-globin genes linked to their regulatory element (HS-40) in transgenic mice. Nucleic Acids Res. 22: 4139-4147.
15. Grosveld F, van Assendelft GB, Greaves DR and Kollias G (1987). Position-independent, high-level expression of the human β-globin gene in transgenic mice. Cell 51: 975-985.
16. Harteveld CL, Muglia M, Passarino G, Kielman MF, et al. (2002). Genetic polymorphism of the major regulatory element HS-40 upstream of the human α-globin gene cluster. Br. J. Haematol. 119: 848-854.
17. Harteveld CL, Voskamp A, Phylipsen M, Akkermans N, et al. (2005). Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification. J. Med. Genet. 42: 922-931.
18. Hatton CS, Wilkie AO, Drysdale HC, Wood WG, et al. (1990). Alpha-thalassemia caused by a large (62 kb) deletion upstream of the human α globin gene cluster. Blood 76: 221-227.
19. Higgs DR (1993). α-Thalassaemia. Baillieres Clin. Haematol. 6: 117-150.
20. Higgs DR and Wood WG (2008). Long-range regulation of alpha globin gene expression during erythropoiesis. Curr. Opin. Hematol. 15: 176-183.
21. Higgs DR, Wood WG, Jarman AP, Sharpe J, et al. (1990). A major positive regulatory region located far upstream of the human α-globin gene locus. Genes Dev. 4: 1588-1601.
22. Higgs DR, Sharpe JA and Wood WG (1998). Understanding alpha globin gene expression: a step towards effective gene therapy. Semin. Hematol. 35: 93-104.
23. Hughes JR, Cheng JF, Ventress N, Prabhakar S, et al. (2005). Annotation of cis-regulatory elements by identification, subclassification, and functional assessment of multispecies conserved sequences. Proc. Natl. Acad. Sci. U. S. A. 102: 9830-9835.
24. Jarman AP, Wood WG, Sharpe JA, Gourdon G, et al. (1991). Characterization of the major regulatory element upstream of the human alpha-globin gene cluster. Mol. Cell. Biol. 11: 4679-4689.
25. Johnson KD, Grass JA, Park C, Im H, et al. (2003). Highly restricted localization of RNA polymerase II within a locus control region of a tissue-specific chromatin domain. Mol. Cell. Biol. 23: 6484-6493.
26. Liebhaber SA, Griese EU, Weiss I, Cash FE, et al. (1990). Inactivation of human α-globin gene expression by a de novo deletion located upstream of the α-globin gene cluster. Proc. Natl. Acad. Sci. U. S. A. 87: 9431-9435.
27. Patrinos GP, de Krom M, de Boer E, Langeveld A, et al. (2004). Multiple interactions between regulatory regions are required to stabilize an active chromatin hub. Genes Dev. 18: 1495-1509.
28. Perutz MF, Rossmann MG, Cullis AF, Muirhead H, et al. (1960). Structure of myoglobin: A three-dimensional Fourier synthesis at 5.5 Angstrom resolution, obtained by X-ray analysis. Nature 185: 416-422.
29. Ribeiro DM, Figueiredo MS, Costa FF and Sonati MF (2003). Haplotypes of alpha-globin gene regulatory element in two Brazilian native populations. Am. J. Phys. Anthropol. 121: 58-62.
30. Romao L, Osorio-Almeida L, Higgs DR, Lavinha J, et al. (1991). Alpha-thalassemia resulting from deletion of regulatory sequences far upstream of the alpha-globin structural genes. Blood 78: 1589-1595.
31. Romao L, Cash F, Weiss I, Liebhaber S, et al. (1992). Human α-globin gene expression is silenced by terminal truncation of chromosome 16p beginning immediately 3′ of the ζ-globin gene. Hum. Genet. 89: 323-328.
32. Sharpe JA, Chan-Thomas PS, Lida J, Ayyub H, et al. (1992). Analysis of the human alpha globin upstream regulatory element (HS-40) in transgenic mice. EMBO J. 11: 4565-4572.
33. Strauss EC, Andrews NC, Higgs DR and Orkin SH (1992). In vivo footprinting of the human α-globin locus upstream regulatory element by guanine and adenine ligation-mediated polymerase chain reaction. Mol. Cell. Biol. 12: 2135-2142.
34. Szutorisz H, Canzonetta C, Georgiou A, Chow CM, et al. (2005a). Formation of an active tissue-specific chromatin domain initiated by epigenetic marking at the embryonic stem cell stage. Mol. Cell. Biol. 25: 1804-1820.
35. Szutorisz H, Dillon N and Tora L (2005b). The role of enhancers as centres for general transcription factor recruitment. Trends Biochem. Sci. 30: 593-599.
36. Tolhuis B, Palstra RJ, Splinter E, Grosveld F, et al. (2002). Looping and interaction between hypersensitive sites in the active beta-globin locus. Mol. Cell 10: 1453-1465.
37. Vernimmen D, De Gobbi M, Sloane-Stanley JA, Wood WG, et al. (2007). Long-range chromosomal interactions regulate the timing of the transition between poised and active gene expression. EMBO J. 26: 2041-2051.
38. Viprakasit V, Kidd AM, Ayyub H, Horsley S, et al. (2003). De novo deletion within the telomeric region flanking the human alpha globin locus as a cause of α thalassaemia. Br. J. Haematol. 120: 867-875.
39. Viprakasit V, Harteveld CL, Ayyub H, Stanley JS, et al. (2006). A novel deletion causing α thalassemia clarifies the importance of the major human alpha globin regulatory element. Blood 107: 3811-3812.
40. Vyas P, Vickers MA, Simmons DL, Ayyub H, et al. (1992). Cis-acting sequences regulating expression of the human alpha-globin cluster lie within constitutively open chromatin. Cell 69: 781-793.
41. Weatherall DJ and Clegg JB (1981). The Thalassemia Syndromes. 3rd edn. Blackwell Scientific Publications, Oxford.
42. Wenning MR, Harteveld CL, Giordano PC, Kimura EM, et al. (2002). Hemoglobin H disease resulting from the association of the -α3.7 rightward deletion and the (αα)MM deletion in a Brazilian patient. Eur. J. Haematol. 69: 179-181.
43. Wilkie AO, Lamb J, Harris PC, Finney RD, et al. (1990). A truncated human chromosome 16 associated with alpha thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n. Nature 346: 868-871.
44. Zhang Q, Reddy PM, Yu CY, Bastiani C, et al. (1993). Transcriptional activation of human ζ 2 globin promoter by the α globin regulatory element (HS-40): functional role of specific nuclear factor-DNA complexes. Mol. Cell. Biol. 13: 2298-2308.
45. Zhou GL, Xin L, Song W, Di LJ, et al. (2006). Active chromatin hub of the mouse α-globin locus forms in a transcription factory of clustered housekeeping genes. Mol. Cell. Biol. 26: 5096-5105.