Spectrin cosenza: A novel β chain variant associated with Sp α(I/74) hereditary elliptocytosis

British Journal of Haematology

Volumn 97, Issue 2, 1997, Pages 273-278

  Qualtieri, A ^a   Pasqua, A ^b   Bisconte, M G ^a   Le Pera, M ^b   Brancati, Carlo ^a,b  

^a Centro Studi della Microcitemia   (Italy)

^b CNR   (Italy)

Author keywords

hereditary elliptocytosis; point mutation; Sp (I 74); spectrin; SSCP

Indexed keywords

DNA; SPECTRIN;

AMINO ACID SUBSTITUTION; ARTICLE; BETA CHAIN; CASE REPORT; CONTROLLED STUDY; DNA SEQUENCE; ERYTHROCYTE SHAPE; EXON; FAMILY STUDY; FEMALE; HEREDITARY ELLIPTOCYTOSIS; HETEROZYGOSITY; HUMAN; HUMAN CELL; ITALY; MALE; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DEFECT; SINGLE STRAND CONFORMATION POLYMORPHISM;

EID: 0030945744     PISSN: 00071048     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2141.1997.572703.x     Document Type: Article

References (26)

1. Bennett, V. & Lambert, S. (1991) The spectrin skeleton: from red cells to brain. Journal of Clinical Investigation, 87, 1483-1489.
2. Budowle, B., Chakraborty, R., Giust, A.M., Eisenberg, A.J. & Allen, R.C. (1991) Analysis of the VNTR locus DISBO by PCR followed by high-resolution PAGE. American Journal of Genetics, 48, 137-144.
3. Dhermy, D., Lecomte, M.C., Garbarz, M., Bournier, O., Galand, C., Gautero, H., Feo, C., Alloisio, N., Delaunay, J. & Boivin, P. (1982) Spectrin β-chain variant associated with hereditary elliptocytosis. Journal of Clinical Investigation, 70, 707-715.
4. Dodge, J.T., Mitchell, C. & Hanahan, D.J. (1963) The preparation and chemical characteristics of hemoglobin free ghosts of human erythrocytes. Archives of Biochemistry and Biophysics, 100, 119-130.
5. Eber, S.W., Morris, S.A., Schroter, W. & Gratzer, W.B. (1988) Interactions of spectrin in hereditary elliptocytes containing truncated spectrin β-chain. Journal of Clinical Investigation, 81, 523-530.
6. Fairbanks, G., Steck, T.L. & Wallach, D.F.H. (1971) Electrophoretic analysis of the major polypeptides of the human erythrocyte membrane. Biochemistry, 10, 2606-2617.
7. Gallagher, P.G., Tse, W.T., Costa, F., Scarpa, A., Boivin, P., Delaunay, J. & Forget, B.G. (1991) A splice site mutation of the β-spectrin gene causing exon skipping in hereditary elliptocytosis associated with a truncated β-spectrin chain. Journal of Biological Chemistry, 266, 15154-15159.
8. Gallagher, P.G., Weed, S.A., Tse, W.T., Benoit, L., Morrow, J.S., Marchesi, S.L., Mohandas, N. & Forget, B.G. (1995) Recurrent fatal hydrops fetalis associated with a nucleotide substitution in the erythrocyte β-spectrin gene. Journal of Clinical Investigation, 95, 1174-1182.
9. Hartwig, J.H. (1994) Spectrin superfamily. Protein Profile, 1, 715-749.
10. Knowles, W.S., Bologna, M.L., Chasis, J.A., Marchesi, S.L. & Marchesi, V.T. (1984) Common structural polymorphism in human erythrocyte spectrin. Journal of Clinical Investigation, 73, 973-979.
11. Laemmli, U.K. (1970) Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature, 227, 680-685.
12. Lecomte, M.C., Garbaz, M., Gautero, H., Bournier, O., Galand, C., Boivin, P. & Dhermy, D. (1993) Molecular basis of clinical and morphological heterogeneity in hereditary elliptocytosis (HE) with spectrin αI variants. British Journal of Haematology, 85, 584-594.
13. Liu, S.C., Palek, J., Prchal, J. & Castleberry, R.P. (1981) Altered spectrin dimer-dimer self association and instability of erythrocyte membrane skeletons in hereditary pyropoikilocytosis. Journal of Clinical Investigation, 73, 597-605.
14. Miraglia del Giudice, E., Perrotta, S., Sannino, E., De Angelis, F., Nobili, B. & Iolascon, A. (1994) Molecular heterogeneity of hereditary elliptocytosis in Italy. Haematologica, 74, 400-405.
15. Palek, I. & Sahr, K.E. (1992) Mutations of the red cell membrane proteins: from clinical evaluation to detection of the underlying genetic defect. Blood, 80, 308-330.
16. I/74 mutations in hereditary elliptocytosis: further support for a triple-stranded folding unit model of the spectrin heterodimer contact site. Blood, 84, 303-308.
17. I/65 hereditary elliptocytosis in Calabria (Southern Italy). Human Genetics, 95, 359-362.
18. Sahr, K.E., Koetzer, T.L., Moy, S.L., Derick, H.L., Chisthi, A.H., Jarolim, P., Lorenzo, F., Miraglia del Giudice, E., Iolascon, A., Galanello, R., Cao, A., Delaunay, J., Liu, S.C. & Palek, J. (1993) Spectrin Cagliari, an Ala → Gly substitution in helix 1 of β spectrin repeat 17 that severely disrupts the structure and self-association of the erythrocyte spectrin heterodimer. Journal of Biological Chemistry 268, 22656-22662.
19. Sahr, K.E., Laurila, P., Kotula, L., Scala, A.L., Coupa, E., Leto, T.L., Linnenbach, A.I., Winkelmann, J.C., Speicher, D.W., Marchesi, V.T., Curtis, P.I. & Forget, B.G. (1990) The complete cDNA and polypeptide sequences of human erythroid α-spectrin. Journal of Biological Chemistry, 265, 4434-4443.
20. Saiki, R.K., Gelfand, D.H., Stoffel, S., Scharf, S.J., Higuchi, R., Horn, T., Mullis, K.B. & Enrlich, H.A. (1988) Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase. Science, 239, 487-489.
21. Shulman, M.S., Roth, E.F., Jr, Cheng, B., Rybicki, A.C., Sussman, I., Wong, M., Wang, W., Ranney, H.M., Nagel, R.L. & Schwartz, R.S. (1990) Growth of Plasmodium falciparum in human erythrocytes containing abnormal membrane proteins. Proceedings of the National Academy of Sciences of the United States of America, 87, 7339-7343.
22. Speicher, D.W. & Marchesi, V.T. (1984) Erythrocyte spectrin is comprised of many homologous triple helical segments. Nature, 311, 177-180.
23. Speicher, D.W., Morrow, J.S., Knowles, W.J. & Marchesi, V.T. (1982) A structural model of human erythrocyte spectrin alignment of chemical and functional domains. Journal of Biological Chemistry, 257, 9093-9101.
24. Tse, W.T., Gallagher, P.G., Pothier, B., Costa, F.F., Scarpa, A., Delaunay, J. & Forget, B.G. (1991) An insertional frameshift mutation of the β-spectrin gene associated with elliptocytosis in spectrin Nice (β220/216). Blood, 78, 517-523.
25. I/74 hereditary elliptocytosis. Journal of Clinical Investigation, 86, 909-916.
26. Yoon, S.H., Yu, H., Eber, S. & Prchal, I.T. (1991) Molecular defect of truncated β-spectrin associated with hereditary elliptocytosis: β-Spectrin Gottingen. Journal of Biological Chemistry, 266, 8490-8494.