Transgenic Knockout Mice with Exclusively Human Sickle Hemoglobin and Sickle Cell Disease

作者: Chris Paszty , Catherine M Brion , Elizabeth Manci , H Ewa Witkowska , Mary E Stevens

DOI: 10.1126/SCIENCE.278.5339.876

关键词:

摘要: To create mice expressing exclusively human sickle hemoglobin (HbS), transgenic α-, γ-, and β S -globin were generated bred with knockout that had deletions of the murine α- β-globin genes. These cell have major features (irreversibly sickled red cells, anemia, multiorgan pathology) found in humans disease and, as such, represent a useful vivo system to accelerate development improved therapies for this common genetic disease.

参考文章(16)
M Trudel, N Saadane, MC Garel, J Bardakdjian‐Michau, Y Blouquit, JL Guerquin‐Kern, P Rouyer‐Fessard, D Vidaud, A Pachnis, PH Romeo, Towards a transgenic mouse model of sickle cell disease: hemoglobin SAD. The EMBO Journal. ,vol. 10, pp. 3157- 3165 ,(1991) , 10.1002/J.1460-2075.1991.TB04877.X
Robert P. Hebbel, Stephen H. Embury, Sickle Cell Disease: Basic Principles and Clinical Practice ,(1994)
D. J. Ciavatta, T. M. Ryan, S. C. Farmer, T. M. Townes, Mouse model of human beta zero thalassemia: targeted deletion of the mouse beta maj- and beta min-globin genes in embryonic stem cells. Proceedings of the National Academy of Sciences of the United States of America. ,vol. 92, pp. 9259- 9263 ,(1995) , 10.1073/PNAS.92.20.9259
David R. Greaves, Peter Fraser, Miguel A. Vidal, Michael J. Hedges, David Ropers, Lucio Luzzatto, Frank Grosveld, A transgenic mouse model of sickle cell disorder Nature. ,vol. 343, pp. 183- 185 ,(1990) , 10.1038/343183A0
Chris Pászty, Narla Mohandas, Mary E. Stevens, Jeanne F. Loring, Stephen A. Liebhaber, Catherine M. Brion, Edward M. Rubin, Lethal α–thalassaemia created by gene targeting in mice and its genetic rescue Nature Genetics. ,vol. 11, pp. 33- 39 ,(1995) , 10.1038/NG0995-33
F. S. Collins, C. J. Stoeckert, G. R. Serjeant, B. G. Forget, S. M. Weissman, G gamma beta+ hereditary persistence of fetal hemoglobin: cosmid cloning and identification of a specific mutation 5' to the G gamma gene Proceedings of the National Academy of Sciences of the United States of America. ,vol. 81, pp. 4894- 4898 ,(1984) , 10.1073/PNAS.81.15.4894
T. Ryan, T. Townes, M. Reilly, T Asakura, R. Palmiter, R. Brinster, R. Behringer, Human sickle hemoglobin in transgenic mice. Science. ,vol. 247, pp. 566- 568 ,(1990) , 10.1126/SCIENCE.2154033
Linus Pauling, Sickle Cell Anemia, a Molecular Disease Science. ,vol. 110, pp. 543- 548 ,(1949) , 10.1126/SCIENCE.110.2865.543
Dale Talbot, Philip Collis, Michael Antoniou, Miguel Vidal, Frank Grosveld, David R. Greaves, A dominant control region from the human β -globin locus conferring integration site-independent gene expression Nature. ,vol. 338, pp. 352- 355 ,(1989) , 10.1038/338352A0
E M Rubin, H E Witkowska, E Spangler, P Curtin, B H Lubin, N Mohandas, S M Clift, Hypoxia-induced in vivo sickling of transgenic mouse red cells. Journal of Clinical Investigation. ,vol. 87, pp. 639- 647 ,(1991) , 10.1172/JCI115041