Genetic correction of sickle cell disease: Insights using transgenic mouse models

Nature Medicine

Volumn 6, Issue 2, 2000, Pages 177-182

  Blouin, Marie José ^a   Beauchemin, Hugues ^a   Wright, Adrian ^a   De Paepe, Monique ^b   Soretie, Martin ^c   Bleau, Anne Marie ^a   Nakamoto, Betty ^d   Ou, Ching Nan ^e   Stamatoyannopoulos, Georges ^d   Trudel, Marie ^a  

^a CLIN RESEARCH INSTITUTE OF MONTREAL   (Canada)

^b BROWN UNIVERSITY   (United States)

^c BAYER CORPORATION   (United States)

^d UNIVERSITY OF WASHINGTON   (United States)

^e BAYLOR COLLEGE OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GAMMA GLOBIN; HEMOGLOBIN F; OXYGEN;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; CONTROLLED STUDY; ERYTHROCYTE COUNT; ERYTHROCYTE LIFESPAN; ERYTHROCYTE STRUCTURE; GENE EXPRESSION; GENE THERAPY; MOUSE; NONHUMAN; OXYGEN DISSOCIATION CURVE; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; SICKLE CELL ANEMIA; TRANSGENIC MOUSE; TREATMENT OUTCOME;

ANEMIA, SICKLE CELL; ANIMALS; DISEASE MODELS, ANIMAL; ERYTHROPOIESIS; FETAL HEMOGLOBIN; GENE THERAPY; LONGEVITY; MICE; MICE, TRANSGENIC; RNA, MESSENGER;

ANIMALIA; MUS MUSCULUS; RODENTIA;

EID: 17644441354     PISSN: 10788956     EISSN: None     Source Type: Journal    
DOI: 10.1038/72279     Document Type: Article

References (39)

1. Bertles, J.F. & Milner, P.F. Irreversibly sickled erythrocytes: a consequence of the heterogeneous distribution of hemoglobin types in sickle-cell anemia. J. Clin. Invest. 47, 1731-1741 (1968).
2. Charache, S. et al. Effect of hydroxyurea on the frequency of painful crises in sickle cell anemia. N. Engl. J. Med. 332, 1317-1322 (1995).
3. Dover, C.J., Brusilow, S. & Charache, S. Induction of fetal hemoglobin production in subjects with sickle cell anemia by oral sodium phenylbutyrate. Blood 84, 339-343 (1994).
4. McCatfrey, P.C., Newsome, D.A., Fibach, E., Yoshida, M. & Su, M.S.-S. Induction of γ-globin by histone deacetylase inhibitors. Stood 90, 2075-2083 (1997).
5. Perrine, S.P. et al. A short-term trial of butyrate to stimulate fetal-globin-gene expression in the β-globin disorders. N. Engl. J. Med. 328, 81-86(1993).
6. Stamatoyannopoulos, C. et al. Fetal hemoglobin induction by acetate, a product of butyrate catabolism. Stood 84, 3198-3204 (1994).
7. Popp, R.A. et al. A transgenic mouse model of hemoglobin S Antilles disease. Blood 89, 4204-4212 (1997).
8. Paszty, C. et al. Transgenic knockout mice with exclusively human sickle hemoglobin and sickle cell disease. Science 278, 876-878 (1997).
9. Ryan, T.M., Ciavatta, D.J. & Townes, T.M. Knockout-transgenic mouse model of sickle cell disease. Science 278, 873-876 (1997).
10. Fabry, M.E. et al. A second generation transgenic mouse model expressing both hemoglobin S (HbS) and HbS-Antilles results in increased phenotypic seventy. Blood 86, 2419-2428 (1995).
11. Greaves, D.R. et al. A transgenic mouse model of sickle cell disorder Nature 343, 183-185 (1990).
12. Trudel, M. et al. Towards a transgenic mouse model of sickle cell disease: hemoglobin SAD. EMBO J. 10, 3157-3165 (1991).
13. De Paepe, M.E. & Trudel, M. The transgenic SAD mouse: a model of human sickle cell glomerulopathy. Kidney Int. 46, 1337-1345 (1994).
14. Blouin, M.-J., De Paepe, M. & Trudel, M. Altered hematopoiesis in murine sickle cell disease. Blood 94, 1451-1459 (1999).
15. Trudel, M. et al. Sickle cell disease of transgenic SAD mice. Blood 84, 3189-3197 (1994).
16. + transport and reverses erythrocytes dehydration in transgenic SAD mice. J. Clin. Invest. 93, 1670-1676 (1994).
17. Enver, T., Ebens, A.J., Forrester, W.C. & Stamatoyannopoulos, G. 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 (1989).
18. Stamatoyannopoulos, C., Josephson, B., Zhang, J.-W. & Li, Q. Developmental regulation of human gamma-globin genes in transgenic mice. Mol. Cell. Biol. 13, 7636-7644 (1993).
19. Powars, D.R., Weiss, J.N., Chan, L.S. & Schroeder, W.A. Is there a threshold level of fetal hemoglobin that ameliorates morbidity in sickle cell anemia? Blood 63, 921-926 (1984).
20. Serjeant, C.R. Irreversibly sickled cells and splenomegaly in sickle-cell anaemia. Br. J. Haematol. 19, 635-641 (1970).
21. Platt, O.S. et al Pain in sickle cell disease: Ratesand risk factors. N. Engl. J. Med. 325, 11-16 (1991).
22. Platt, O.S. et al. Mortality in sickle cell disease: Life expectancy and risk factors for early death. N. Engl. J. Med. 330, 1639-1644 (1994).
23. Noguchi, C.T., Rodgers, G. P., Serjeant, C. & Schlechter, A.N. Levels of fetal hemoglobin necessary for treatment of sickle cell disease. N. Engl. J. Med. 318, 96-99 (1988).
24. Croizat, H. & Nagel, R.L. Circulating BFU-E in sickle cell anemia: Relationship to percent fetal hemoglobin and BPA-like activity. Exp. Hematol. 16, 946-949 (1988).
25. Croizat, H., Billett, H.H. & Nagel, R.L. Heterogeneity in the properties of burst-forming units of erythroid lineage in sickle cell anemia: DNA synthesis and burst-promoting activity production is related to peripheral hemoglobin F levels. Blood 75, 1006-1010 (1990).
26. Croizat, H. & Nagel, R.L. Circulating cytokines response and the level of erythropoiesis in sickle cell anemia. Am. J. Hematol. 60, 105-115 (1999).
27. Aγ ratio in fetal haemoglobin and to studies of globin synthesis. Br. J. Haematol. 44, 527-534 (1980).
28. Schroeder, W.A., Shelton, J.B., Shelton, J.R. & Auynh, V. High performance liquid Chromatographic separation of the globin chains of non-human hemoglobins. Hemoglobin 9, 461 -182 (1985).
29. Ou, C.-N. & Rognerud, C.L. Rapid analysis of hemoglobin variants by cation-exchange HPLC. Clin. Chent. 39, 820-824 (1993).
30. Trudel, M. & Costantini, F. A 3′ enhancer contributes to the stage-specific expression of the human β-globin gene. Genes Dev. 1, 954-961 (1987).
31. Cγ-globin and down-stream β-globin gene domain in human erythroid cells. Mol. Cell. Biol. 7, 4024-4029 (1987).
32. Stamatoyannopoulos, G. et al. Monoclonal antibodies specific for globin chains. Blood 61, 530-539 (1983).
33. Corash, L.M., Piomelli, S., Chen, H.C., Seaman, C. & Gross, E. Separation of erythrocytes according to age on a simplified density gradient. J. Lab. Clin. Med. 84, 147-151 (1974).
34. Bunn, H.F. & Forget, B.G. in Hemoglobin: Molecular Genetic and Clinical Aspects 690 (W.B. Saunders, Philadelphia, 1986).
35. Kim, Y.R. & Ornstein, L. Isovolumentric sphering of erythrocytes for more accurate and precise cell measurements by flow cytometry. Cytometry 3, 419-427 (1983).
36. Tycko, D.H., Metz, M.H., Epstein, E.A. & Grinbaum, A. Flow cytometric light scattering measurement of red cell volume and hemoglobin concentration. Appl. Optics 24, 1355-1365 (1985).
37. Mohandas, N. et al. Accurate and independent measurement of volume and hemoglobin concentration of individual red cells by laser light scattering. Blood 68, 506-513 (1986).
38. Mohandas, N. et al. Automated quantitation of cell density distribution and hyperdense cell fraction in RBC disorders. Blood 74, 442-447 (1989).
39. Brugnara, C. et al. Automated reticulocyte counting and measurement of reticulocyte cellular indices: Evaluation of the Miles H*3 blood analyzer. Am. J. Clin. Pathol. 102, 623-632 (1994).