In vivo activation of the human d-globin gene: The therapeutic potential in β-thalassemic mice

Haematologica

Volumn 99, Issue 1, 2014, Pages 76-84

  Manchinu, Maria F ^a   Marongiu, Maria F ^a   Poddie, Daniela ^a   Casu, Carla ^a   Latini, Veronica ^a   Simbula, Michela ^a   Galanello, Renzo ^b   Moi, Paolo ^b   Cao, Antonio ^a   Porcu, Susanna ^a   Ristaldi, Maria S ^a  

^a CNR   (Italy)

^b UNIVERSITY OF CAGLIARI   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

CD71 ANTIGEN; HEMOGLOBIN DELTA CHAIN; IRON; KRUPPEL LIKE FACTOR; LUCIFERASE; MESSENGER RNA;

ANEMIA; ANIMAL CELL; ANIMAL TISSUE; ARTICLE; BETA THALASSEMIA; ERYTHROCYTE COUNT; ERYTHROCYTE STRUCTURE; ERYTHROPOIESIS; FLOW CYTOMETRY; GENE ACTIVATION; GENE DOSAGE; GENE EXPRESSION; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; MEAN CORPUSCULAR HEMOGLOBIN; MEAN CORPUSCULAR VOLUME; MOUSE; NONHUMAN; PHENOTYPE; POLYMERASE CHAIN REACTION; PROMOTER REGION; REAL TIME POLYMERASE CHAIN REACTION; SOUTHERN BLOTTING; TRANSGENIC MOUSE;

ANIMALS; BETA-THALASSEMIA; DELTA-GLOBINS; DISEASE MODELS, ANIMAL; ERYTHROCYTES; ERYTHROPOIESIS; GENE EXPRESSION; GENE ORDER; GENES, REPORTER; GENETIC LOCI; HUMANS; IRON; MICE; MICE, TRANSGENIC; PHENOTYPE; PROMOTER REGIONS, GENETIC; TRANSCRIPTIONAL ACTIVATION;

EID: 85047687587     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2012.082768     Document Type: Article

References (34)

1. Weatherall DJ. The inherited diseases of hemoglobin are an emerging global health burden. Blood. 2010;115(22):4331-4336.
2. Cao A, Galanello R. Beta-thalassemia. Genet Med. 2010;2(2):61-76.
3. Persons DA. The challenge of obtaining therapeutic levels of genetically modified hematopoietic stem cells in beta-thalassemia patients. Ann NY Acad Sci. 2010; 1202:69-74.
4. Rivière I, Dunbar CE, Sadelain M. Hematopoietic stem cell engineering at a crossroads. Blood. 2012;119(5):1107-1116.
5. Bauer DE, Kamran SC, Orkin SH. Reawakening fetal hemoglobin: prospects for new therapies for the β-globin disorders. Blood. 2012;120(15):2945-2953.
6. Ristaldi MS, Casula S, Porcu S, Pirastu M, Cao A. Activation of the delta globin gene by the beta-CACCC motif. Blood Cells Mol. Dis. 1999;25(3-4):193-209.
7. Donze D, Jeancake PH, Townes TM. Activation of delta-globin gene expression by erythroid Krupple-like factor: a potential approach for gene therapy of sickle cell disease. Blood. 1996;88(10):4051-4057.
8. Tang DC, Ebb D, Hardison RC, Rodgers GP. Restoration of the CCAAT box or insertion of the CACCC motif activates [corrected] delta-globin gene expression. Blood. 1997;90 (1):421-427.
9. Tang DC, Rodgers GP. Activation of the human delta-globin gene promoter in primary adult erythroid cells. Br J Haematol. 1998;103(3):835-838.
10. Steinberg MH, Adams JG 3rd. Hemoglobin A2: origin, evolution, and aftermath. Blood. 1991;78(9):2165-2177.
11. Poillon WN, Kim BC, Rodgers GP, Noguchi CT, Schechter AN. Sparing effect of hemoglobin F and hemoglobin A2 on the polymerization of hemoglobin S at physiologic ligand saturations. Proc Natl Acad Sci USA. 1993;90(11):5039-5043.
12. Siatecka M, Bieker JJ. The multifunctional role of EKLF/KLF1 during erythropoiesis. Blood. 2011;118(8):2044-2054.
13. Nuez B, Michalovich D, Bygrave A, Ploemacher R, Grosveld F. Defective haematopoiesis in fetal liver resulting from inactivation of the EKLF gene. Nature. 1995;375(6529):316-318.
14. Perkins AC, Sharpe AH, Orkin SH. Lethal beta-thalassaemia in mice lacking the ery-throid CACCC-transcription factor EKLF. Nature. 1995;375(6529):318-322.
15. Lee JS, Ngo H, Kim D, Chung JH. Erythroid Kruppel-like factor is recruited to the CACCC box in the beta-globin promoter but not to the CACCC box in the gamma-globin promoter: the role of the neighboring promoter elements. Proc Natl Acad Sci. USA. 2000;97(6):2468-2473.
16. Collis P, Antoniou M, Grosveld F. Definition of the minimal requirements within the human beta-globin gene and the dominant control region for high level expression. EMBO J. 1990;9(1):233-240.
17. Stroboulis J, Dillon N, Grosveld F. Developmental regulation of a complete 70kb human β-globin locus in transgenic mice. Genes Dev. 1993;6(10):1857-1864.
18. Poddie D, Marongiu M F, Ferrari SC, Porcu S, Ristaldi MS. Delta-globin gene structure and expression in the K562 cell line. Hemoglobin. 2003;27(4):219-228.
19. Torrance JD, Bothwell TH. Tissue iron stores. In: Iron Methods in Hematology. Vol. 1. New York, NY; Churchill Livingstone: 1980; p. 90-115.
20. Yang B, Kirby S, Lewis J, Detloff PJ, Maeda N, Smithies O. A mouse model for beta 0-thalassemia. Proc Natl Acad Sci USA. 1995;92(25):11608-11612.
21. May C, Rivella S, Callegari J, Heller G, Gaensler KM, Luzzatto L, et al. Therapeutic haemoglobin synthesis in beta-thalassaemic mice expressing lentivirus-encoded human beta-globin. Nature. 2000;406 (6791):82-86.
22. May C, Rivella S, Chadburn A, Sadelain M. Successful treatment of murine beta-tha-lassemia intermedia by transfer of the human beta-globin gene. Blood. 2002;99(6): 1902-1908.
23. Rivella S, May C, Chadburn A, Rivière I, Sadelain M. A novel murine model of Cooley anemia and its rescue by lentiviral-mediated human beta-globin gene transfer. Blood. 2003;101(8):2932-2939.
24. Cavazzana-Calvo M, Payen E, Negre O, Wang G, Hehir K, Fusil F, et al. Transfusion independence and HMGA2 activation after gene therapy of human β-thalassaemia. Nature. 2010;467(7313):318-322.
25. Persons DA. Gene therapy: targeting β-tha-lassaemia. Nature. 2010;467(7313):277-278.
26. Kosche KA, Dobkin C, Bank A. DNA sequences regulating human beta globin gene expression. Nucleic Acids Res. 1985;13(21):7781-7793.
27. Kollias G, Hurst J, De Boer E, Grosveld F. The human beta-globin gene contains a downstream developmental specific enhancer. Nucleic Acids Res. 1987;15(14): 5739-5747.
28. Weatherall DJ, Clegg JB. The Thalassemia Syndromes, 4th edn. Blackwell Science, Oxford.
29. Sloane-Stanley J, Roberts NA, Olivieri N, Weatherall DJ, Wood WG. Globin gene expression in Hb Lepore-BAC transgenic mice. Br J Haematol. 2006;135(5):735-737.
30. Nagel RL, Sharma A, Kumar R, Fabry ME. Severe red cell abnormalities in transgenic mice expressing high levels of normal human delta chains. Blood. 1995;86(Suppl 1):251.
31. Klug A. The discovery of zinc fingers and their development for pratical applications in gene regulation and genome manipulation. Q Rev Biophys. 2010;43(1):1-21.
32. Zhu J, Chin K, Aerbajinai W, Trainor C, Gao P, Rodgers GP. Recombinant erythroid Kruppel-like factor fused to GATA1 up-regu-lates delta- and gamma-globin expression in erythroid cells. Blood. 2011;117(11): 3045-3052.
33. Matsuda M, Sakamoto N, Fukumaki Y. Delta-thalassemia caused by disruption of the site for an erythroid-specific transcription factor, GATA-1, in the delta-globin gene promoter. Blood. 1992;80(5):1347-1351.
34. Cheng LT, Sun LT, Tada T. Genome editing in induced pluripotent stem cells. Genes Cells. 2012;17(6):431-438.