Amino-acid substitution in α-spectrin commonly coinherited with nondominant hereditary spherocytosis

American Journal of Hematology

Volumn 54, Issue 3, 1997, Pages 233-241

  Tse, William T ^a   Gallagher, Patrick G ^a   Jenkins, Patricia B ^a   Wang, Yongping ^a   Benoit, Lori ^a   Speicher, David ^b   Winkelmann, John C ^a,d   Agre, Peter ^c   Forget, Bernard G ^a   Marchesi, Sally L ^a  

^a YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b WISTAR INSTITUTE   (United States)

^c JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^d UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

Author keywords

spectrin gene; hereditary spherocytosis; polymorphism, mutation; recessive disorder

Indexed keywords

FODRIN;

AMINO ACID SUBSTITUTION; ARTICLE; CLINICAL ARTICLE; GENETIC POLYMORPHISM; HEREDITARY SPHEROCYTOSIS; HUMAN; POINT MUTATION; PRIORITY JOURNAL; RECESSIVE INHERITANCE;

ALLELES; AMINO ACIDS; FEMALE; GENES, RECESSIVE; HUMANS; MALE; POINT MUTATION; POLYMORPHISM, GENETIC; SPECTRIN; SPHEROCYTOSIS, HEREDITARY;

EID: 0030888145     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8652(199703)54:3<233::AID-AJH10>3.0.CO;2-E     Document Type: Article

References (38)

1. Becker PS, Lux SE: Disorders of the red cell membrane skeleton: Hereditary spherocytosis and hereditary elliptocytosis. In Scriver CR, Beaudet AL, Sly WS, Valle D (eds): "The Metabolic and Molecular Bases of Inherited Disease," Ed 7. New York: McGraw-Hill, 1995, p 3513.
2. Lux SE, Palek J: Disorders of the red cell membrane. In Handin RI, Lux SE, Stossel TP (eds): "Blood: Principles and Practice of Hematology." Philadelphia: J.B. Lippincott Co., 1995, p 1701.
3. Benz EJ Jr: The erythrocyte membrane and cytoskeleton: Structure, function and disorders. In Stamatoyannopoulos G, Nienhuis AW, Majerus PW, Varmus H (eds): "The Molecular Basis of Blood Diseases." Philadelphia: W.B. Saunders Co., 1994, p 257.
4. Palek J, Jarolim P: Clinical expression and laboratory detection of red cell membrane protein mutations. Semin Hematol 30:249, 1993.
5. Agre P, Orringer EP, Bennett V: Deficient red-cell speclrin in severe, recessively inherited spherocytosis. N Engl J Med 306:1155, 1982.
6. Agre P, Casella JF, Zinkham WH, McMillan C, Bennelt V: Partial deficiency of erythrocyte spectrin in hereditary spherocytosis. Nature 314:380, 1985.
7. Agre P, Asimos A, Casella JF, McMillan C: Inheritance pattern and clinical response to splencctomy as a reflection of erythrocyte spectrin deficiency in hereditary spherocytosis. N Engl J Med 315:1579, 1986.
8. Savvides P, Shalev O, John KM, Lux SE: Combined spectrin and ankyrin deficiency in autosomal dominant hereditary spherocytosis. Blood 82:2953, 1993.
9. Marchesi SL: The erythrocyte cytoskeleton in hereditary elliptocytosis and spherocytosis. In Agre P, Parker JC (eds): "Red Blood Cell Membranes: Structure, Function, Clinical Implications." New York: Marcel Dekker Inc., 1989, p 77.
10. Marchesi SL: Mutant cytoskeletal proteins in hemolytic disease. In Mooseker MS, Morrow JS (eds): "Ordering the Membrane-Cytoskeleton Trilayer." San Diego: Academic Press, 1991, p 155.
11. Marchesi S, Agre P, Speicher DW, Tse WT, Forget BG: Mutant spectrin αll domain in recessively inherited spherocytosis. Blood [Suppl] 74:182, 1989 (abstract).
12. Marchesi SL, Knowles WJ, Morrow JS, Bologna M, Marchesi VT: Abnormal spectrin in hereditary elliptocytosis. Blood 67:141, 1986.
13. O'Farrell P: High resolution two-dimensional electrophoresis of proteins. J Biol Chem 250:4007, 1975.
14. 4. Nature 227:680, 1970.
15. Fairbanks G, Steck TL, Wallach DFH: Electrophoretic analysis of the major polypeptides of the human erythrocyte membrane. Biochemistry 10:2606, 1971.
16. Fenner C, Traut RR, Mason DT, Wikman-Coffelt J: Quantification of Coomassie blue stained proteins in polyacrylamide gels based on analysis of eluted dye. Anal Biochem 63:595, 1975.
17. Sahr KE, Laurila P, Kotula L, Scarpa AL, Coupal E, Leto TL, Linnenbach AJ, Winkelmann JC, Speicher DW, Marchesi VT, Curtis PJ, Forget BG: The complete cDNA and polypeptide sequences of human erythroid α-spectrin. J Biol Chem 265:4434, 1990.
18. Kotula L, Showe L, Sahr K, Linnenbach AJ, Forget BG, Curtis PJ: The exon-intron organization of the human erythrocyte α-spectrin gene. Genomics 9:131, 1991.
19. Saiki RK, Gelfand DH, Stoffel S, Scharf S, Higuchi R, Horn GT, Mullis KB, Erlich HA: Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science 239:487, 1988.
20. Sanger F, Nicklen S, Coulson AR: DNA sequencing with chain-terminating inhibitors. Proc Natl Acad Sci USA 74:5463, 1977.
21. Saiki RK, Bugawan TL, Horn GT, Mullis KB, Erlich HA: Analysis of enzymatically amplified β-globin and HLA DQ-α DNA with allele-specific oligonucleolide probes. Nature 324:163, 1986.
22. LELY allele. Blood 84:1686, 1994 (letter).
23. Gallagher PC, Kotula L, Wang Y, Marchesi SL, Curtis PJ, Speicher DW, Forget BG: Molecular basis and haplotyping of the all domain polymorphisms of spectrin: Application to the study of hereditary elliptocytosis and pyropoikilocytosis. Am J Hum Genet 59:351, 1996.
24. Huffman N, Stanislovitis P, Watkins PC, Klinger KW, Linnenbach AJ, Forget BG: Three RFLPs are detected by an alpha spectrin genomic clone. Nucleic Acids Res 15:4696, 1987.
25. Kotula L, Curtis P: Xba I polymorphisms in the 5′ region of human erythrocyte alpha spectrin gene (Spna). Nucleic Acids Res 16:10950, 1988.
26. V/41 polymorphism) and intron 45 and with partial skipping of exon 46. J Clin Invest 91:2091, 1993.
27. V/41: A common spectrin polymorphism at the αIV-αV domain junction. Relevance to the expression level of hereditary elliptocytosis due to α-spectrin variants located in trans. J Clin Invest 87:2169, 1991.
28. Boivin P, Galand C, Devaux I, Lecomte MC, Garbarz M, Dhermy D: Spectrin αIIa variant in dominant and non-dominant spherocytosis. Hum Genet 92:153, 1993.
29. Jenkins PB, Abou-Alfa GK, Dhermy D, Bursaux E, Feo C, Scarpa AL, Lux SE, Garbarz M, Forget BG, Gallagher PG: A nonsense mutation of the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis. J Clin Invest 97:373, 1996.
30. Wichterle H, Hanspal M, Palek J, Jarolim P: Combination of two mutant a spectrin alleles underlies a severe spherocytic hemolytic anemia. J Clin Invest 98:2300, 1996.
31. Jarolim P, Wichterle H, Palek J, Gallagher PC, Forget BG: The low expression a spectrin LEPRA is frequently associated with autosomal recessive/non-dominant hereditary spherocytosis. Blood [Suppl] 88:4, 1996 (abstract).
32. Coetzer T, Lawler J, Prchal JT, Palek J: Molecular determinants of clinical expression of hereditary elliptocytosis and pyropoikilocytosis. Blood 70:766, 1987.
33. Gallagher PC, Tse WT, Marchesi SL, Zarkowsky HS, Forget BG: A defect in α-spectrin mRNA accumulation in hereditary pyropoikilocytosis, Trans Assoc Am Physicians 104:32, 1991.
34. Hunspal M, Hanspal JS, Sahr KE, Fibach E, Nachman J, Palek J: Molecular basis of spectrin deficiency in hereditary pyropoikilocytosis. Blood 83:1652, 1993.
35. Whitfield CF, Follweiler JB, Lopresti-Morrow L, Miller BA: Deficiency of α-spectrin synthesis in burst-forming units-erythroid in lethal hereditary spherocytosis. Blood 78:3043, 1991.
36. Bodine D, Birkenmeier C, Barker JE: Spectrin deficient inherited hemolylic anemias in the mouse: Characterization by spectrin synthesis and mRNA activity in reticulocytes. Cell 37:721, 1984.
37. Hanspal M, Palek J: Synthesis and assembly of membrane skeletal proteins in mammalian red cell precursors. J Cell Biol 105:1417, 1987.
38. Hanspal M, Yoon S-H, Yu H, Hanspal JS, Lambert S, Palek J, Prchal JT: Molecular basis of spectrin and ankyrin deficiencies in severe hereditary spherocytosis: Evidence implicating a primary defect of ankyrin. Blood 77:165, 1991.