β-spectrinBari: A truncated β-chain responsible for dominant hereditary spherocytosis

Haematologica

Volumn 94, Issue 12, 2009, Pages 1753-1757

  Perrotta, Silverio ^a   Della Ragione, Fulvio ^a   Rossi, Francesca ^a   Avvisati, Rosa Anna ^b   Di Pinto, Daniela ^a   De Mieri, Giovanna ^a   Scianguetta, Saverio ^a   Mancusi, Silvia ^a   De Falco, Luigia ^b   Marano, Vito ^a   Iolascon, Achille ^b  

^a SECOND UNIVERSITY OF NAPLES   (Italy)

^b UNIVERSITY OF NAPLES FEDERICO II   (Italy)

Author keywords

spectrin; Hereditary spherocytosis; Truncated chain

Indexed keywords

BETA SPECTRIN BARI PROTEIN; BETA SPECTRIN WINSTON SALEM PROTEIN; MEMBRANE PROTEIN; MESSENGER RNA; SPECTRIN; UNCLASSIFIED DRUG;

ACANTHOCYTOSIS; ADULT; ARTICLE; BETA CHAIN; BLOOD SMEAR; CASE REPORT; CONTROLLED STUDY; DOMINANT HEREDITARY SPHEROCYTOSIS; ERYTHROCYTE DISORDER; ERYTHROCYTE MEMBRANE; EXON; FAMILY STUDY; FEMALE; GENE SEQUENCE; GENE STRUCTURE; GENETIC ASSOCIATION; HEMOLYTIC ANEMIA; HEREDITARY SPHEROCYTOSIS; HUMAN; HYPERBILIRUBINEMIA; INTRON; MALE; OSMOTIC FRAGILITY; PHENOTYPE; POINT MUTATION; PROTEIN DEFICIENCY; SPLENOMEGALY; BLOOD; FAMILY HEALTH; GENETICS; METABOLISM; NUCLEOTIDE SEQUENCE; PATHOLOGY; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; RNA SPLICING; WESTERN BLOTTING;

ACANTHOCYTES; ADULT; ANEMIA, HEMOLYTIC; BASE SEQUENCE; BLOTTING, WESTERN; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; HUMANS; MALE; POINT MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICE SITES; SPECTRIN; SPHEROCYTES; SPHEROCYTOSIS, HEREDITARY; SPLENOMEGALY;

EID: 73149094074     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2009.010124     Document Type: Article

References (25)

1. Perrotta S, Gallagher PG, Mohandas N. Hereditary spherocytosis. Lancet 2008;372:1411-26.
2. Iolascon A, Avvisati RA. Genotype/phenotype correlation in hereditary spherocytosis. Haematologica 2008;93:1283-8.
3. An X, Mohandas N. Disorders of red cell membrane. Br J Haematol 2008; 141:367-75.
4. Grace RF and Lux SE. Disorders of the erythrocyte membrane. In: Orkin SH, Nathan DG, Ginsburg D, Look AT, Fisher DE, Lux SE, editors. Nathan and Oski's Hematology of Infancy and Childhood. Philadelphia: Elsevier-Saunders, 2009. p. 659-837.
5. Hassoun H, Vassiliadis JN, Murray J, Njolstad PR, Rogus JJ, Ballas SK, et al. Characterization of the underlying molecular defect in hereditary spherocytosis associated with spectrin deficiency. Blood 1997;90:398-406.
6. Miraglia del Giudice E, Lombardi C, Francese M, Nobili B, Conte ML, Amendola G, et al. Frequent de novo monoallelic expression of β-spectrin gene (SPTB) in children with hereditary spherocytosis and isolated spectrin deficiency. Br J Haematol 1998;101:251-4.
7. Becker PS, Tse WT, Lux SE, Forget BG. β spectrin kissimmee: a spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1. J Clin Invest 1993;92:612-6.
8. Hassoun H, Vassiliadis JN, Murray J, Yi SJ, Hanspal M, Ware RE, et al. Molecular basis of spectrin deficiency in β spectrin Durham. A deletion within beta spectrin adjacent to the ankyrin-binding site precludes spectrin attachment to the membrane in hereditary spherocytosis. J Clin Invest 1995;96:2623-9.
9. Hassoun H, Vassiliadis JN, Murray J, Yi SJ, Hanspal M, Johnson CA, et al. Hereditary spherocytosis with spectrin deficiency due to an unstable truncated β spectrin. Blood 1996;87: 2538-45.
10. Pinto L, Iolascon A, Miraglia del Giudice E, Nobili B. A modification of the 'pink test' may improve the diagnosis of hereditary spherocytosis. Acta Haematol 1989;82:53-4.
11. Dodge JT, Mitchell C, Hanahan DJ. The preparation and chemical characteristics of hemoglobin-free ghosts of human erythrocytes. Arch Biochem Biophys 1963;100:119-30.
12. Lowry OH, Rosenburg NJ, Farr AL, Randall RJ. Protein measurement with the Folin phenol reagent. J Biol Chem 1951;193:265-9.
13. Laemmli UK. Cleavage of structural proteins during the assembly of the head of bacteriophage T4. Nature 1970;227:680-5.
14. Fairbanks G, Steck TL, Wallach DF. Electrophoretic analysis of the major polypeptides of the human erythrocyte membrane. Biochemistry 1971; 10:2606-17.
15. 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;88:52-5.
16. Perrotta S, Miraglia del Giudice E, Alloisio N, Sciarratta G, Pinto L, Delaunay J, et al. Mild elliptocytosis associated with the α 34 Arg - >Trp mutation in spectrin Genova (α I/74). Blood 1994;83:3346-9.
17. Della Ragione FD, Russo GL, Oliva A, Mercurio C, Mastropietro S, Pietra VD, et al. Biochemical characterization of p16INK4- and p18-containing complexes in human cell lines. J Biol Chem 1996;271:15942-9.
18. Goossens M, Kan YY. DNA analysis in the diagnosis of hemoglobin disorders. Methods Enzymol 1981;76: 805-17.
19. Livak KJ, Schmittgen TD. Analysis of relative gene expression data using real-time quantitative PCR and the 2(-ΔΔ C(T)) method. Methods 2001;25:402-8.
20. Jarolim P, Wichterle H, Hanspal M, Murray J, Rubin HL, Palek J. Beta spectrin PRAGUE: a truncated β spectrin producing spectrin deficiency, defective spectrin heterodimer self-association and a phenotype of spherocytic elliptocytosis. Br J Haematol 1995;91:502-10.
21. Takahara K, Schwarze U, Imamura Y, Hoffman GG, Toriello H, Smith LT, et al. Order of intron removal influences multiple splice outcomes, including a two-exon skip, in a COL5A1 acceptor-site mutation that results in abnormal proalpha1(V) N-propeptides and Ehlers-Danlos syndrome type I. Am J Hum Genet 2002;71:451-65.
22. Gee SL, Aoyagi K, Lersch R, Hou V, Wu M, Conboy JG. Alternative splicing of protein 4.1R exon 16: ordered excision of flanking introns ensures proper splice site choice. Blood 2000;95:692-9.
23. Attanasio C, David A, Neerman-Arbez M. Outcome of donor splice site mutations accounting for congenital afibrinogenemia reflects order of intron removal in the fibrinogen alpha gene (FGA). Blood 2003;101:1851-6.
24. D'Orval C, D'Aubenton Carafa B, Sirand-Pugnet Y, Gallego P, Brody M, Marie, Joelle E. RNA Secondary structure repression of a muscle-specific exon in HeLa cell nuclear extracts. Science 1991;252:1823-8.
25. Deutscher MP. Degradation of RNA in bacteria: comparison of mRNA and stable RNA. Nucleic Acids Res 2006;34:659-66.