|
|
 Previous Article | Table of Contents | Next Article 
Blood, Vol. 95 No. 12 (June 15), 2000:
pp. 3978-3985
Mild spherocytic hereditary elliptocytosis and altered levels of
 - and  -adducins in  -adducin-deficient mice
Andrés F. Muro,
Martín L. Marro,
Sre ko Gajovi,
Fabiola Porro,
Lucio Luzzatto, and
Francisco E. Baralle
From the International Centre for Genetic Engineering and
Biotechnology, Trieste, Italy; Department of Histology and Embryology,
School of Medicine, University of Zagreb, Zagreb, Croatia; and the
Department of Human Genetics, Memorial Sloan-Kettering Cancer Center,
New York, New York.
The membrane skeleton, a dynamic network of proteins associated with
the plasma membrane, determines the shape and mechanical properties of
erythrocytes. Deficiencies or defects in membrane skeletal proteins are
associated with inherited disorders of erythrocyte morphology and
function. Adducin is one of the proteins localized at the
spectrin-actin junction of the membrane skeleton. In this work we show
that deficiency of  -adducin produces an 80% decrease of
 -adducin and a fourfold up-regulation of  -adducin in
erythrocytes. -Adducin or any other isoform generated by translation
of abnormally spliced messenger RNAs could not be detected by our
antibodies either in ghosts or in cytoplasm of  / erythrocytes.
Actin levels were diminished in mutant mice, suggesting alterations in
the actin-spectrin junctional complexes due to the absence of adducin. Elliptocytes, ovalocytes, and occasionally spherocytes were found in
the blood film of / mice. Hematological values showed an increase
in reticulocyte counts and mean corpuscular hemoglobin concentration,
decreased mean corpuscular volume and hematocrit, and normal
erythrocyte counts that, associated to splenomegaly, indicate that the
mice suffer from mild anemia with compensated hemolysis.
These modifications are due to a loss of membrane surface and
dehydration that result in an increase in the osmotic fragility of red
blood cells. The marked alteration in osmotic fragility together with
the predominant presence of elliptocytes is reminiscent of the human
disorder called spherocytic hereditary elliptocytosis. Our results
suggest that the amount of adducin remaining in the mutant animals
(presumably adducin) could be functional and might account for
the mild phenotype.
 CiteULike  Connotea  Del.icio.us  Digg  Reddit  Technorati What's this?
This article has been cited by other articles:
|
|
|
|
 
R. F. Robledo, S. L. Ciciotte, B. Gwynn, K. E. Sahr, D. M. Gilligan, N. Mohandas, and L. L. Peters
Targeted deletion of {alpha}-adducin results in absent {beta}- and {gamma}-adducin, compensated hemolytic anemia, and lethal hydrocephalus in mice
Blood,
November 15, 2008;
112(10):
4298 - 4307.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
E. M. Pasini, M. Kirkegaard, D. Salerno, P. Mortensen, M. Mann, and A. W. Thomas
Deep Coverage Mouse Red Blood Cell Proteome: A First Comparison with the Human Red Blood Cell
Mol. Cell. Proteomics,
July 1, 2008;
7(7):
1317 - 1330.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
A. A. Khan, T. Hanada, M. Mohseni, J.-J. Jeong, L. Zeng, M. Gaetani, D. Li, B. C. Reed, D. W. Speicher, and A. H. Chishti
Dematin and Adducin Provide a Novel Link between the Spectrin Cytoskeleton and Human Erythrocyte Membrane by Directly Interacting with Glucose Transporter-1
J. Biol. Chem.,
May 23, 2008;
283(21):
14600 - 14609.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
N. Kato, T. Miyata, Y. Tabara, T. Katsuya, K. Yanai, H. Hanada, K. Kamide, J. Nakura, K. Kohara, F. Takeuchi, et al.
High-density association study and nomination of susceptibility genes for hypertension in the Japanese National Project
Hum. Mol. Genet.,
February 14, 2008;
17(4):
617 - 627.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
H. Chen, A. A. Khan, F. Liu, D. M. Gilligan, L. L. Peters, J. Messick, W. M. Haschek-Hock, X. Li, A. E. Ostafin, and A. H. Chishti
Combined Deletion of Mouse Dematin-Headpiece and beta-Adducin Exerts a Novel Effect on the Spectrin-Actin Junctions Leading to Erythrocyte Fragility and Hemolytic Anemia
J. Biol. Chem.,
February 9, 2007;
282(6):
4124 - 4135.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
L. Costessi, G. Devescovi, F. E. Baralle, and A. F. Muro
Brain-specific promoter and polyadenylation sites of the {beta}-adducin pre-mRNA generate an unusually long 3'-UTR
Nucleic Acids Res.,
January 9, 2006;
34(1):
243 - 253.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
M. Nakano, K. Ohneda, H. Yamamoto-Mukai, R. Shimizu, O. Ohneda, S. Ohmura, M. Suzuki, S. Tsukamoto, T. Yanagawa, H. Yoshida, et al.
Transgenic over-expression of GATA-1 mutant lacking N-finger domain causes hemolytic syndrome in mouse erythroid cells
Genes Cells,
January 1, 2005;
10(1):
47 - 62.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
H. Yang, P. Y. Reaves, M. J. Katovich, and M. K. Raizada
Decrease in Hypothalamic Gamma Adducin in Rat Models of Hypertension
Hypertension,
February 1, 2004;
43(2):
324 - 328.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
H. Yang, S. C. Francis, K. Sellers, M. DeBarros, C. Sun, C. Sumners, C. M. Ferrario, M. J. Katovich, A. F. Muro, and M. K. Raizada
Hypertension-Linked Decrease in the Expression of Brain {gamma}-Adducin
Circ. Res.,
October 4, 2002;
91(7):
633 - 639.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
R. Khanna, S. H. Chang, S. Andrabi, M. Azam, A. Kim, A. Rivera, C. Brugnara, P. S. Low, S.-C. Liu, and A. H. Chishti
Headpiece domain of dematin is required for the stability of the erythrocyte membrane
PNAS,
May 14, 2002;
99(10):
6637 - 6642.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
|
|
M. L. Marro, O. U. Scremin, M. C. Jordan, L. Huynh, F. Porro, K. P. Roos, S. Gajovic, F. E. Baralle, and A. F. Muro
Hypertension in {beta}-Adducin-Deficient Mice
Hypertension,
September 1, 2000;
36(3):
449 - 453.
[Abstract]
[Full Text]
[PDF]
|
|
|
|
|
