Point mutations involved in red cell stomatocytosis convert the electroneutral anion exchanger 1 to a nonselective cation conductance

Blood

Volumn 110, Issue 6, 2007, Pages 2158-2165

  Guizouarn, Hélène ^a,b   Martial, Sonia ^a   Gabillat, Nicole ^a   Borgese, Franck ^a  

^a UMR 6548   (France)

^b UNIVERSITÉ CÔTE D'AZUR   (France)

Author keywords

[No Author keywords available]

Indexed keywords

BICARBONATE; CHLORIDE ION;

AMINO ACID SEQUENCE; ANIMAL CELL; ARTICLE; CATION TRANSPORT; CELL MEMBRANE; ERYTHROCYTE; HEMOLYTIC ANEMIA; MISSENSE MUTATION; NONHUMAN; OOCYTE; POINT MUTATION; PRIORITY JOURNAL; SODIUM TRANSPORT; STOMATOCYTOSIS; XENOPUS;

EID: 34548821221     PISSN: 00064971     EISSN: 00064971     Source Type: Journal    
DOI: 10.1182/blood-2006-12-063420     Document Type: Article

References (32)

1. Delaunay J. The molecular basis of hereditary red cell membrane disorders. Blood Rev. 2007;21:1-20.
2. Alper SL. Diseases of mutations in the SLC4A1/AE1 polypeptide. In: Broer S, Wagner CA, eds. Membrane Transport Diseases. New York, NY: Kluwer Academic/Plenum; 2003:39-63.
3. Bruce LJ, Tanner MJ. Erythroid band 3 variants and disease. Baillieres Best Pract Res Clin Haematol. 1999;12:637-654.
4. Bruce LJ, Robinson HC, Guizouarn H, et al. 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. 2005;37:1258-1263.
5. Stewart GW. Hemolytic disease due to membrane ion channel disorders. Curr Opin Hematol. 2004;11:244-250.
6. Iolascon A, Miraglia del Giudice E, Perrotta S, Alloisio N, Morle L, Delaunay J. Hereditary spherocytosis: from clinical to molecular defects. Haematologica. 1998;83:240-257.
7. Gallagher PG, Forget BG. Hematologically important mutations: band 3 and protein 4.2 variants in hereditary spherocytosis. Blood Cells Molecular Disease. 1997;24:539-543.
8. Guizouarn H, Gabillat N, Motais R, Borgese F. Multiple transport functions of a red blood cell anion exchanger, tAE1: its role in cell volume regulation. J Physiol. 2001;535:497-506.
9. Fievet B, Perset F, Gabillat N, et al. Transport of uncharged organic solutes in Xenopus oocytes expressing red cell anion exchangers (AE1s). Proc Natl Acad Sci U S A. 1998;95:10996-11001.
10. Lu L, Montrose-Rafizadeh C, Hwang TC, Guggino WB. A delayed rectifier potassium current in Xenopus oocytes. Biophys J. 1990;57:1117-1123.
11. Honore E, Lazdunski M. Two different types of channels are targets for potassium channel openers in Xenopus oocytes. FEBS Lett. 1991;287:75-79.
12. Tokimasa T, North RA. Effects of barium, lanthanum and gadolinium on endogenous chloride and potassium currents in Xenopus oocytes. J Physiol. 1996;496(pt 3):677-686.
13. Lane JW, McBride DWJ, Hamill OP. Amiloride block of the mechanosensitive cation channel in Xenopus oocytes. J Physiol. 1991;441:347-366.
14. Groves JD, Tanner MJ. Glycophorin A facilitates the expression of human band 3-mediated anion transport in Xenopus oocytes. J Biol Chem. 1992;267:22163-22170.
15. Young MT, Tanner MJ. Distinct regions of human glycophorin A enhance human red cell anion exchanger (band 3; AE1) transport function and surface trafficking. J Biol Chem. 2003;278:32954-32961.
16. Bennekou P, Barksman TL, Kristensen B, Jensen L, Christophersen P. Pharmacology of the human red cell voltage-dependent cation channel: II, inactivation and blocking. Blood Cell Mol Dis. 2004;33:356-361.
17. Shao W, Orlando RC, Awayda MS. Bisphosphonates stimulate an endogenous nonselective cation channel in Xenopus oocytes: potential mechanism of action. Am J Physiol Cell Physiol. 2005;289:C248-C256.
18. Diakov A, Koch JP, Ducoudret O, Muller-Berger S, Fromter E. The disulfonic stilbene DIDS and the marine poison maitotoxin activate the same two types of endogenous cation conductance in the cell membrane of Xenopus laevis oocytes. Pflugers Arch. 2001;442:700-708.
19. Bielfeld-Ackermann A, Range C, Korbmacher C. Maitotoxin (MTX) activates a nonselective cation channel in Xenopus laevis oocytes. Pflugers Arch. 1998;436:329-337.
20. Kuruma A, Hirayama Y, Hartzell HC. A hyperpolarization-and acid-activated nonselective cation current in Xenopus oocytes. Am J Physiol Cell Physiol. 2000;279:C1401-C1413.
21. Weber WM. Endogenous ion channels in oocytes of xenopus laevis: recent developments. J Membr Biol. 1999;170:1-12.
22. Nessler S, Friedrich O, Bakouh N, et al. Evidence for activation of endogenous transporters in Xenopus laevis oocytes expressing the Plasmodium falciparum chloroquine resistance transporter, PfCRT. J Biol Chem. 2004;279:39438-39446.
23. Guizouarn H, Gabillat N, Borgese F. Evidence for up-regulation of the endogenous Na-K-2Cl co-transporter by molecular interactions with the anion exchanger tAE1 expressed in Xenopus oocyte. J Biol Chem. 2004;279:11513-11520.
24. Attali B, Guillemare E, Lesage F, et al. The protein IsK is a dual activator of K+ and Cl- channels. Nature. 1993;365:850-852.
25. Shimbo K, Brassard DL, Lamb RA, Pinto LH. Viral and cellular small integral membrane proteins can modify ion channels endogenous to Xenopus oocytes. Biophys J. 1995;69:1819-1829.
26. Tzounopoulos T, Maylie J, Adelman JP. Induction of endogenous channels by high levels of heterologous membrane proteins in Xenopus oocytes. Biophys J. 1995;69:904-908.
27. Arellano RO, Woodward RM, Miledi R. A monovalent cationic conductance that is blocked by extracellular divalent cations in Xenopus oocytes. J Physiol. 1995;484(pt 3):593-604.
28. Zhang Y, McBride DW Jr, Hamill OP. The ion selectivity of a membrane conductance inactivated by extracellular calcium in Xenopus oocytes. J Physiol. 1998;508(pt 3):763-776.
29. Guizouarn H, Motais R. Swelling activation of transport pathways in erythrocytes: effects of Cl-, ionic strength, and volume changes. Am J Physiol. 1999;276:C210-C220.
30. Zhu Q, Lee DW, Casey JR. Novel topology in C-terminal region of the human plasma membrane anion exchanger, AE1. J Biol Chem. 2003;278:3112-3120.
31. Kirk K, Horner HA, Elford BC, Ellory JC, Newbold CI. Transport of diverse substrates into malaria-infected erythrocytes via a pathway showing functional characteristics of a chloride channel. J Biol Chem. 1994;269:3339-3347.
32. Browning J, Ellory J, Gibson J, Pathophysiology of Red Cell Volume. In: Lang F, ed. Mechanisms and Significance of Cell Volume Regulation Contrib Nephrol. Vol 152. Basel, Switzerland: Karger; 2006:241-268.