Incomplete distal renal tubular acidosis coinherited with a mutation in the band 3 (AE1) gene

Nephrology Dialysis Transplantation

Volumn 12, Issue 9, 1997, Pages 1869-1873

  Rysava R ^a   Tesar V ^a   Jirsa Jr , M ^a   Brabec, V ^b   Jarolim P ^b  

^a CHARLES UNIVERSITY   (Czech Republic)

^b INSTITUTE OF HEMATOLOGY AND BLOOD TRANSFUSION   (Czech Republic)

Author keywords

AE1 gene mutation; Distal renal tubular acidosis; Hereditary spherocytosis; Urine acidification

Indexed keywords

AMMONIA; BICARBONATE; CALCIUM CHLORIDE; ERYTHROCYTE BAND 3 PROTEIN; MEMBRANE PROTEIN;

ADOLESCENT; ADULT; AGED; ARTICLE; CARBON DIOXIDE BLOOD LEVEL; CARBOXY TERMINAL SEQUENCE; CLINICAL ARTICLE; CONTROLLED STUDY; ERYTHROCYTE MEMBRANE; FEMALE; GENE MUTATION; GENETIC ASSOCIATION; HEREDITARY SPHEROCYTOSIS; HUMAN; HUMAN CELL; KIDNEY CORTEX; KIDNEY TUBULE ACIDOSIS; MALE; PRIORITY JOURNAL; PROTEIN DEFICIENCY; PROTEIN DOMAIN; URINE ACIDIFICATION; URINE PH;

ACIDOSIS; ADOLESCENT; ADULT; AGED; ANION EXCHANGE PROTEIN 1, ERYTHROCYTE; BICARBONATES; ERYTHROCYTES; FEMALE; HUMANS; HYDROGEN-ION CONCENTRATION; KIDNEY DISEASES; KIDNEY TUBULES, DISTAL; MALE; MIDDLE AGED; MUTATION; SPHEROCYTOSIS, HEREDITARY; SULFATES; URINE;

EID: 0030766722     PISSN: 09310509     EISSN: None     Source Type: Journal    
DOI: 10.1093/ndt/12.9.1869     Document Type: Article

References (40)

1. Tanner MJA, Martin PG, High S. The complete amino acid sequence of the human erythrocyte membrane anion-transport protein deduced from the cDNA. Biochem J 1988; 256: 703-712
2. Lux SE, John KM, Kopito RR, Lodish HF. Cloning and characterization of band 3, the human erythrocyte anion-exchange protein (AE1). Proc Natl Acad Sci USA 1989; 86: 9089-9093
3. Low PS. Structure and function of the cytoplasmic domain of band 3: center of erythrocyte membrane-peripheral protein interactions. Biochim Biophys Acta 1986; 864; 145-167
4. Tanner MJA. Molecular and cellular biology of the erythrocyte anion exchanger (AE1 ). Semin Hematol 1993; 30: 34-57
5. Davis L, Lux SE, Bennett V. Mapping the ankyrin-binding site of the human erythrocyte anion exchanger. J Biol Chem 1989; 264: 9665-9672
6. Pasternack GR, Anderson RA, Leto TL, Marchesi VT. Interactions between protein 4.1 and band 3. An alternative binding site for an element of the membrane skeleton. J Biol Chem 1985; 260: 3676-3683
7. Yu J, Steck TL. Associations of band 3, the predominant polypeptide of the human erythrocyte membrane. J Biol Chem 1975; 250: 9176-9184
8. Walder JA, Chatterjee R, Steck TL et al. The interaction of hemoglobin with the cytoplasmic domain of band 3 of the human erythrocyte membrane. J Biol Chem 1984; 259: 10238-10246
9. Alper SL, Natale J, Gluck S, Lodish HF, Brown D. Subtypes of intercalated cells in rat kidney collecting duct defined by antibodies against erythroid band 3 and renal vacuolar H+-ATPase. Proc Natl Acad Sci USA 1989; 86: 5429-5433
10. Parkkila S, Rajaniemi H, Kellokumpu S. Polarized expression of a band 3-related protein in mammalian sperm cells. Biol Reprod 1993; 49: 326-331
11. Kudrycki KE, Shull GE. Primary structure of the rat kidney band 3 anion exchange protein deduced from a cDNA. J Biol Chem 1989; 264: 8185-8192
12. Brosius FC, Alper SL, Garcia AM, Lodish HF. The major kidney band 3 gene transcript predicts an amino-terminal truncated band 3 polypetide. J Biol Chem 1989; 264: 7784-7789
13. Sahr KE, Taylor WM, Daniels BP, Rubin HL, Jarolim P. The structure and organization of the human erythroid anion exchanger (AE1) gene. Genomics 1994; 24: 491-501
14. Batlle DC. Segmental characterization of defects in collecting tubule acidification. Kidney Int 1986; 30: 546-554
15. Kurtzman NA. Disorders of distal acidification. Kidney Int 1990; 38: 720-727
16. PRAGUE). J Clin Invest 1994; 93: 121-130
17. Jarolim P, Rubin HL, Brabec V et al. Mutations of conserved arginines in the membrane domain of erythroid band 3 protein lead to a decrease in membrane-associated band 3 and to the phenotype of hereditary spherocytosis. Blood 1995; 85: 634-640
18. Jarolim P, Murray J, Rubin HL, Palek J. Molecular characterization of hereditary spherocytosis with band 3 deficiency. Blood 1994; 84 [Suppl 1]: 362a (Abstract)
19. Miraglia del Giudice E, Perrotta S, Pinto L et al. Hereditary spherocytosis characterized by increased specrin/band-3 ratio. Br J Haematol 1992; 80: 133-134
20. Iolascon A, Miraglia del Giudice E, Perrotta S et al. Hereditary spherocytosis (HS) due to loss of anion exchange transporter. Haematologica 1992; 7: 450-456
21. Reinhart WH, Wyss EJ, Arnold D, Ott P. Hereditary spherocytosis associated with protein band 3 defect in a Swiss kindred. Br J Haematol 1994; 86: 147-155
22. Inoue T, Kanzaki A, Yawata A et al. Uniquely higher incidence of isolated or combined deficiency of band 3 and/or band 4.2 as the pathogenesis of autosomal dominantly inherited spherocytosis in the Japanese population. Int J Hematol 1994; 60: 227-238
23. Saad STO, Costa FF, Vicentim DL, Salles TSI, Pranke PHL. Red cell membrane protein abnormalities in hereditary spherocytosis in Brazil. Br J Haematol 1994; 88: 295-299
24. Miraglia del Giudice E, Iolascon A, Pinto L, Nobili B, Perrotta S. Erythrocyte membrane protein alterations underlying clinical heterogeneity in hereditary spherocytosis. Br J Haematol 1994; 88: 52-55
25. Maillet P, Vallier A, Reinhart WH et al. Band 3 Chur: a variant associated with band 3-deficient hereditary spherocytosis and substitution in a highly conserved position of transmembrane segment 11. Br J Haematol 1995; 91: 804-810
26. Jenkins PA, Abou-Alfa GK, Dhermy D et al. A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis. J Clin Invest 1996; 97: 373-380
27. Alloisio N, Texier P, Forissier A et al. Band 3 Coimbra: a variant associated with dominant hereditary spherocytosis and band 3 deficiency. Blood 1993; 82 [Suppl. 1]: 4a (Abstract)
28. Eber SW, Gonzalez JM, Lux ML et al. Ankyrin-1 mutations are a major cause of dominant and recessive hereditary spherocytosis. Nat Genet 1996; 13: 214-218
29. Miraglia del Giudice E, Alloisio N, Vallier A et al. Band 3 Foggia and band 3 Napoli: frameshift mutations causing hereditary spherocytosis with band 3 deficiency. Blood 1995; 86 [Suppl. 1]: 631a (Abstract)
30. Bianchi P, Zanella A, Alloisio N et al. Band 3 Milano: a large (96bp) duplication of the erythrocyte band 3 gene associated with dominant hereditary spherocytosis. Blood 1995; 86 [Suppl. 1]. 468a (Abstract)
31. Oster JR. Hotchkiss JL, Carbon M, Farmer M, Vaamonde CA. A short duration renal acidification test using calcium chloride. Nephron 1975; 14: 281-289
32. Jarolim P, Murray JL, Rubin HL et al. Characterization of 13 novel band 3 gene defects in hereditary spherocytosis with band 3 deficiency. Blood 1996; 88: 4366-4374
33. Batlle D, Grupp M, Gaviria M, Kurtzman NA. Distal renal tubular acidosis with intact capacity to lower urinary pH. Am J Med 1982; 72: 751-758
34. Batlle DC, Sehy JT, Roseman MK, Arruda JA, Kurtzman NA. Clinical and pathophysiologic spectrum of acquired distal renal tubular acidosis. Kidney Int 1981; 20: 389-396
35. Kurtzman NA. Acquired distal renal tubular acidosis (Clinical conference). Kidney Int 1983; 24: 807-819
36. Peters LL, Shivdasani RA, Liu SC et al. Anion exchanger 1 (band 3) is required to prevent erythrocyte membrane surface loss but not to form the membrane skeleton. Cell 1996; 86: 917-927
37. Southgate CD, Chishti AH, Mitchell B, Yi SJ, Palek J. Targeted disruption of the murine erythroid band 3 gene results in spherocytosis and severe haemolytic anaemia despite a normal membrane skeleton. Nat Genet 1996; 14: 227-230
38. Inaba M, Yawata A, Koshino I et al. Defective anion transport and marked spherocytosis with membrane instability caused by hereditary total deficiency of red cell band 3 in cattle due to a nonsense mutation. J Clin Invest 1996; 97: 1804-1817
39. Teixeira da Silva JC, Perrone RD, Johns CA, Madias NE. Rat kidney band 3 mRNA modulation in chronic respiratory acidosis. Am J Physiol 1991; 260: F204-F209
40. Cope DL, Bruce LJ, Schofield AE et al. Altered red cell anion exchanger (band 3, AE1) associated with familial distal renal tubular acidosis. J Am Soc Nephrol 1996; 7: 1852 (Abstract)