β-spectrin São Pauloii, A Novel Frameshift Mutation Of The β-spectrin Gene Associated With Hereditary Spherocytes And Instability Of The Mutant Mrna

dc.creatorBasseres D.S.
dc.creatorTavares A.C.
dc.creatorCosta F.F.
dc.creatorSaad S.T.O.
dc.date2002
dc.date2015-06-30T16:44:28Z
dc.date2015-11-26T15:36:12Z
dc.date2015-06-30T16:44:28Z
dc.date2015-11-26T15:36:12Z
dc.date.accessioned2018-03-28T22:44:44Z
dc.date.available2018-03-28T22:44:44Z
dc.identifier
dc.identifierBrazilian Journal Of Medical And Biological Research. , v. 35, n. 8, p. 921 - 925, 2002.
dc.identifier0100879X
dc.identifier
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-0036703821&partnerID=40&md5=1de5b11771839a030bcbfbf194e19340
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/101855
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/101855
dc.identifier2-s2.0-0036703821
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1263392
dc.descriptionHereditary spherocytosis (HS) is a common inherited anemia characterized by the presence of spherocytic red cells. Defects in several membrane protein genes have been involved in the pathogenesis of HS. β-Spectrin-related HS seems to be common. We report here a new mutation in the βs-spectrin gene coding region in a patient with hereditary spherocytosis. The patient presented acanthocytosis and spectrin deficiency and, at the DNA level, a novel frameshift mutation leading to HS, i.e., a C deletion at codon 1392 (β-spectrin São PauloII), exon 20. The mRNA encoding β-spectrin São PauloII was very unstable and the mutant protein was not detected in the membrane or in other cellular compartments. It is interesting to note that frameshift mutations of the β-spectrin gene at the 3′ end allow the insertion of the mutant protein in the red cell membrane, leading to a defect in the auto-association of the spectrin dimers and consequent elliptocytosis. On the other hand, β-spectrin São PauloII protein was absent in the red cell membrane, leading to spectrin deficiency, HS and the presence of acanthocytes.
dc.description35
dc.description8
dc.description921
dc.description925
dc.descriptionLux, S.E., Palek, J., Disorders of the red cell membrane (1995) Blood Principles and Practice of Hematology, pp. 1701-1818. , Handlin RI, Lux SE & Stossel TP (Editors), JB Lippincott, Philadelphia, PA, USA
dc.descriptionGallagher, P.G., Forget, B.G., Lux, S.E., Disorders of the erythrocyte membrane (1998) Hematology of Infancy and Childhood, 1, pp. 544-664. , Nathan DG & Orkin SH (Editors), 5th edn. Saunders, Philadelphia, PA, USA
dc.descriptionTse, W.T., Lux, S.E., Red blood cell membrane disorders (1999) British Journal of Haematology, 104, pp. 2-13
dc.descriptionBecker, P.S., Tse, W.T., Lux, S.E., Forget, B.G., β-spectrin Kissimmee: A spectrin variant associated with autosomal dominant hereditary spherocytosis and defective binding to protein 4.1 (1993) Journal of Clinical Investigation, 92, pp. 612-616
dc.descriptionHassoun, H., Vassiliadis, J.N., Murray, J., Yi, S.J., Hanspal, M., Ware, R.E., Winter, S.S., Palek, J., Molecular basis of spectrin deficiency in β spectrin Durham (1995) Journal of Clinical Investigation, 96, pp. 2623-2629
dc.descriptionHassoun, H., Vassiliadis, J.N., Murray, J., Yi, S.J., Hanspal, M., Johnson, C.A., Palek, J., Hereditary spherocytosis with spectrin deficiency due to an unstable truncated β spectrin (1996) Blood, 87, pp. 2538-2545
dc.descriptionHassoun, H., Vassiliadis, J.N., Murray, J., Njolstad, P.R., Rogus, J.J., Ballas, S.K., Schaffer, F., Palek, J., Characterization of the underlying molecular defect in hereditary spherocytosis associated with spectrin deficiency (1997) Blood, 90, pp. 398-406
dc.descriptionGarbarz, M., Galand, C., Bibas, D., Bournier, O., Devaux, I., Harousseau, J.-L., Grandchamp, B., Dhermy, D., A 5′ splice region G→C mutation in exon 3 of the human β-spectrin gene leads to decreased levels of β-spectrin mRNA and is responsible for dominant hereditary spherocytosis (spectrin Guemene-Penfao) (1998) British Journal of Haematology, 100, pp. 90-98
dc.descriptionBassères, D.S., Vicentim, D.L., Costa, F.F., Saad, S.T.O., Hassoun, H., β-spectrin Promissão: A translation initiation codon mutation of the β-spectrin gene (ATG→GTG) associated with hereditary spherocytosis and spectrin deficiency in a Brazilian family (1998) Blood, 91, pp. 368-369
dc.descriptionFairbanks, G., Steck, T.L., Wallach, D.F.H., Electrophoretic analysis of the human erythrocyte membrane (1971) Biochemistry, 10, pp. 2606-2614
dc.descriptionDodge, J.T., Mitchell, C., Hanahan, D.J., The preparation and chemical characteristics of hemoglobin-free ghosts of human erythrocytes (1963) Archives of Biochemistry and Biophysics, 100, pp. 119-130
dc.descriptionTowbin, H., Staehelin, J.T., Gordon, J., Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: Procedure and some applications (1979) Proceedings of the National Academy of Sciences, USA, 76, pp. 4350-4354
dc.descriptionSaiki, R.K., Geelfond, D.H., Stoffel, S., Scharf, S.J., Higuchi, R., Horn, G.T., Mullis, K.B., Erlich, H.Á., Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase (1988) Science, 239, pp. 487-491
dc.descriptionKan, Y.W., Holand, J.P., Dozy, A.M., Varmus, H.E., Demonstration of non-functional β-globin mRNA in homozygous β0-thalassemia (1975) Proceedings of the National Academy of Sciences, USA, 72, pp. 5140-5144
dc.descriptionBassères, D.S., Duarte, A.S.S., Hassoun, H., Costa, F.F., Saad, S.T.O., β-spectrin Sta Barbara: A novel frameshift mutation in hereditary spherocytosis associated with detectable levels of mRNA and a germ cell line mosaicism (2001) British Journal of Haematology, 115, pp. 347-353
dc.descriptionDhermy, D., Galand, C., Bournier, O., Cynober, T., Mechinaud, F., Tchemia, G., Garbarz, M., Hereditary spherocytosis with spectrin deficiency related to null mutations of the β-spectrin gene (1998) Blood Cells, Molecules, and Diseases, 24, pp. 251-261
dc.descriptionMiraglia del Giudice, E., Lombardi, C., Francese, M., Nobili, B., Conte, M.L., Amendola, G., Cutillo, S., Perrotta, S., Frequent de novo monoallelic expression of beta-spectrin gene (SPTB) in children with hereditary spherocytosis and isolated spectrin deficiency (1998) British Journal of Haematology, 101, pp. 251-254
dc.descriptionGarbarz, M., Tse, W.T., Gallagher, P.G., Picat, C., Lecomte, M.C., Galibert, E., Dhermy, D., Forget, B.G., Spectrin Rouen (β220/218) a novel shortened β-chain variant in a kindred with hereditary elliptocytosis: Characterization of the molecular defect as exon skipping due to a splice site mutation (1991) Journal of Clinical Investigation, 88, pp. 76-81
dc.descriptionTse, W.T., Gallagher, P.G., Pothier, B., Costa, F.F., Scarpa, A., Delaunay, J., Forget, B.G., An insertional frameshift mutation of the β-spectrin gene associated with elliptocytosis in spectrin Nice (β220/216) (1991) Blood, 78, pp. 517-523
dc.descriptionBassères, D.S., Pranke, P.H.L., Sales, T.S.I., Costa, F.F., Saad, S.T.O., β-spectrin Campinas: A novel shortened β-chain variant associated with skipping of exon 30 and hereditary elliptocytosis (1997) British Journal of Haematology, 97, pp. 579-585
dc.languageen
dc.publisher
dc.relationBrazilian Journal of Medical and Biological Research
dc.rightsaberto
dc.sourceScopus
dc.titleβ-spectrin São Pauloii, A Novel Frameshift Mutation Of The β-spectrin Gene Associated With Hereditary Spherocytes And Instability Of The Mutant Mrna
dc.typeArtículos de revistas


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