Toward a transgenic mouse model of sickle cell disease: Hemoglobin SAD

Toward a transgenic mouse model of sickle cell disease: Hemoglobin SAD

In order to obtain a transgenic mouse model of sickle cell disease, we have synthesized a novel human beta -globin gene, beta super(SAD), designed to increase the polymerization of the transgenic human hemoglobin S (Hb S) in vivo. beta super(SAD) ( beta super(S-Antilles-D Punjab)) includes the beta...

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Veröffentlicht in:The EMBO journal 1991-01, Vol.10 (11), p.3157-3165
Hauptverfasser: Trudel, M, Saadane, N, Garel, M C, Bardakdjian-Michau, J, Bluquit, Y, Guerquin-Kern, J-L, Rouyer-Fessard, P, Vidaud, D, Costantini, F
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beta -globin
genes
hemoglobin
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container_end_page 3165
container_issue 11
container_start_page 3157
container_title The EMBO journal
container_volume 10
creator Trudel, M
Saadane, N
Garel, M C
Bardakdjian-Michau, J
Bluquit, Y
Guerquin-Kern, J-L
Rouyer-Fessard, P
Vidaud, D
Costantini, F
description In order to obtain a transgenic mouse model of sickle cell disease, we have synthesized a novel human beta -globin gene, beta super(SAD), designed to increase the polymerization of the transgenic human hemoglobin S (Hb S) in vivo. beta super(SAD) ( beta super(S-Antilles-D Punjab)) includes the beta super(6)Val substitution of the beta super(S) chain, as well as two other mutations, Antilles ( beta super(23)Ile) and D Punjab ( beta super(121)Gln) each of which promotes the polymerization of Hb S in human. Hemoglobin SAD was increased to 26% in beta -thal/SAD-1 mice which exhibited: (i) abnormal erythrocytes with regard to shape and density; (ii) an enlarged spleen and a high reticulocyte count indicating an increased erythropoiesis; (iii) mortality upon hypoxia; (iv) polymerization of hemolysate similar to that obtained in human homozygous sickle cell disease; and (v) anemia and mortality during development.
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subjects beta -globin
genes
hemoglobin
title Toward a transgenic mouse model of sickle cell disease: Hemoglobin SAD
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