Mutations in band 3 and cation leaky red cells

Blood Cells, Molecules, and Diseases

Volumn 36, Issue 3, 2006, Pages 331-336

  Bruce, Lesley ^a  

^a NHS BLOOD AND TRANSPLANT   (United Kingdom)

Author keywords

Erythrocyte; Leak; Ovalocytosis; Spherocytosis; Stomatocytosis

Indexed keywords

CATION CHANNEL; ERYTHROCYTE BAND 3 PROTEIN; POTASSIUM ION; SODIUM ION;

AMINO ACID SUBSTITUTION; ANION EXCHANGE; ARTICLE; ELLIPTOCYTOSIS; ERYTHROCYTE; ERYTHROCYTE MEMBRANE; PRIORITY JOURNAL; QUALITY CONTROL; STOMATOCYTOSIS;

ANION EXCHANGE PROTEIN 1, ERYTHROCYTE; ELLIPTOCYTOSIS, HEREDITARY; ERYTHROCYTE MEMBRANE; ERYTHROCYTES, ABNORMAL; HUMANS; POINT MUTATION; POTASSIUM; PROTEIN STRUCTURE, TERTIARY; SODIUM; STRUCTURE-ACTIVITY RELATIONSHIP;

EID: 33646832217     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2006.01.008     Document Type: Article

References (23)

1. Tanner M.J.A. The structure and function of band 3 (AE1): recent developments (review). Mol. Membr. Biol. 14 (1997) 155-165
2. Tanner M.J.A. Band 3 anion exchanger and its involvement in erythrocyte and kidney disorders. Curr. Opin. Hematol. 9 (2002) 133-139
3. Bruce L.J., and Tanner M.J.A. Erythroid band 3 variants and disease. In: Tanner M.J.A., and Anstee D.J. (Eds). Baillieres Best Practice and Research Clinical Haematology (1999), Bailliere Tindall, London 637-654
4. Bruce L.J., Beckmann R., Ribeiro M.L., Peters L.L., Chasis J.A., Delaunay J., Mohandas N., Anstee D.J., and Tanner M.J. A band 3-based macrocomplex of integral and peripheral proteins in the RBC membrane. Blood 101 (2003) 4180-4188
5. Klein H.G., and Anstee D.J. Blood Transfusion in Clinical Medicine. eleventh ed. (2005), Blackwell, Oxford, UK 163-208
6. Bruce L.J., Ghosh S., King M.J., Layton D.M., Mawby W.J., Stewart G.W., Oldenborg P.A., Delaunay J., and Tanner M.J. Absence of CD47 in protein 4.2-deficient hereditary spherocytosis in man: an interaction between the Rh complex and the band 3 complex. Blood 100 (2002) 1878-1885
7. Huang C.H., and Liu P.Z. New insights into the Rh superfamily of genes and proteins in erythroid cells and nonerythroid tissues. Blood Cells Mol. Dis. 27 (2001) 90-101
8. 2. Proc. Natl. Acad. Sci. U. S. A. 101 (2004) 7787-7792
9. Delaunay J. The hereditary stomatocytoses: genetic disorders of the red cell membrane permeability to monovalent cations. Semin. Hematol. 41 (2004) 165-172
10. Stewart G.W. Hemolytic disease due to membrane ion channel disorders. Curr. Opin. Hematol. 11 (2004) 244-250
11. Lande W.M., and Mentzer W.C. Haemolytic anaemia associated with increased cation permeability. Clin. Haematol. 14 (1985) 89-103
12. Bruce L.J., Robinson H.C., Guizouarn H., Borgese F., Harrison P., King M.J., Goede J.S., Coles S.E., Gore D.M., Lutz H.U., Ficarella R., Layton D.M., Iolascon A., Ellory J.C., and Stewart G.W. Monovalent cation leaks in human red cells caused by single amino-acid substitutions in the transport domain of the band 3 chloride-bicarbonate exchanger, AE1. Nat. Genet. 37 (2005) 1258-1263
13. Jarolim P., Murray J.L., Rubin H.L., Taylor W.M., Prchal J.T., Ballas S.K., Snyder L.M., Chrobak L., Melrose W.D., Brabec V., and Palek J. Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency. Blood 88 (1996) 4366-4374
14. Mueller T.J., and Morrison M. Detection of a variant of protein 3, the major transmembrane protein of the human erythrocyte. J. Biol. Chem. 252 (1977) 6573-6576
15. Zhang D., Kiyatkin A., Bolin J.T., and Low P.S. Crystallographic structure and functional interpretation of the cytoplasmic domain of erythrocyte membrane band 3. Blood 96 (2000) 2925-2933
16. Kuma H., Shinde A.A., Howren T.R., and Jennings M.L. Topology of the anion exchange protein AE1: the controversial sidedness of lysine 743. Biochemistry 41 (2002) 3380-3388
17. Schofield A.E., Reardon D.M., and Tanner M.J.A. Defective anion transport activity of the abnormal band 3 in hereditary ovalocytic red blood cells. Nature 355 (1992) 836-838
18. Bruce L.J., Ring S.M., Ridgwell K., Reardon D.M., Seymour C.A., Van Dort H.M., Low P.S., and Tanner M.J.A. South-east Asian ovalocytic (SAO) erythrocytes have a cold sensitive cation leak: implications for in vitro studies on stored SAO red cells. Biochim. Biophys. Acta 1416 (1999) 258-270
19. Lie-Injo L.E. Hereditary ovalocytosis and haemoglobin E-ovalocytosis in Malay Aborigines. Nature 208 (1965) 1329-1330
20. Allen S.J., O'Donnell A., Alexander N.D., Mgone C.S., Peto T.E., Clegg J.B., Alpers M.P., and Weatherall D.J. Prevention of cerebral malaria in children in Papua New Guinea by southeast Asian ovalocytosis band 3. Am. J. Trop. Med. Hyg. 60 (1999) 1056-1060
21. Moriyama R., Ideguchi H., Lombardo C.R., Van Dort H.M., and Low P.S. Structural and functional characterization of band 3 from Southeast Asian ovalocytes. J. Biol. Chem. 267 (1992) 25792-25797
22. Cheung J.C., Cordat E., and Reithmeier R.A. Trafficking defects of the Southeast Asian ovalocytosis deletion mutant of anion exchanger 1 membrane proteins. Biochem. J. 392 (2005) 425-434
23. Popov M., Tam L.Y., Li J., and Reithmeier R.A.F. Mapping the ends of transmembrane segments in a polytopic membrane protein. Scanning N-glycosylation mutagenesis of extracytosolic loops in the anion exchanger, band 3. J. Biol. Chem. 272 (1997) 18325-18332