Artículos de revistas
The Aγ-195 (c→g) Mutation In Hereditary Persistence Of Fetal Hemoglobin Is Not Associated With Activation Of A Reporter Gene In Vitro
Registro en:
Brazilian Journal Of Medical And Biological Research. , v. 34, n. 4, p. 489 - 492, 2001.
0100879X
2-s2.0-0346511440
Autor
Schreiber R.
Goncalves M.S.
Junqueira M.L.
Saad S.T.O.
Krieger J.E.
Costa F.F.
Institución
Resumen
Hereditary persistence of fetal hemoglobin is an uncommon, benign disorder in which the expression of γ-globin genes persists into adult life. Several point mutations have been associated with the increased γ-globin gene promoter activity. We evaluated the -195 (C→G) mutation by a functional in vitro assay based on the luciferase reporter gene system. The results indicated that the increased promoter activity observed in vivo could not be reproduced in vitro under the conditions employed, suggesting that other factors may be involved in the over-expression of the γ-globin gene containing the -195 (C→G) mutation. Furthermore, this is the first time that the -195 (C→G) mutation of the Aγ-globin gene has been evaluated by in vitro gene expression. 34 4 489 492 Ottolenghi, S., Nicolis, S., Taramelli, R., Malgaretti, N., Mantovani, R., Comi, P., Giglioni, B., Saglio, G., Sardinian Gγ-HPFH: A T→C substitution in a conserved "octamer" sequence in the Gγ-promoter (1988) Blood, 71, pp. 815-817 Forget, B.G., Developmental control of human globin gene expression (1990) Progress in Clinical and Biological Research, 352, pp. 313-322 Costa, F.F., Zago, M.A., Cheng, G., Nechtman, J.F., Stoming, T.A., Huisman, T.H.J., The Brazilian type of nondeletional Aγ-fetal hemoglobin has a C→G substitution at nucleotide -195 of the Aγ-globin gene (1990) Blood, 76, pp. 1896-1897 Bordin, S., Martins, J.T., Goncalves, M.S., Melo, M.B., Saad, S.T.O., Costa, F.F., Haplo-type analysis and Aγ gene polymorphism associated with the Brazilian type hereditary persistence of fetal hemoglobin (1998) American Journal of Hematology, 58, pp. 49-54 Poncz, M., Solowiejczyk, D., Harpel, B., Mory, Y., Schwartz, E., Surrey, S., Construction of human gene libraries from small amounts of peripheral blood: Analysis of ß-like globin genes (1982) Hemoglobin, 6, pp. 27-36 Motum, P.I., Lindeman, R., Harvey, M.P., Trent, R.J., Comparative studies of nondeletional HPFH γ-globin gene promoters (1993) Experimental Hematology, 21, pp. 852-858 Sambrook, J., Fritsch, E.F., Maniatis, T., (1989) Molecular Cloning: A Laboratory Manual. 2nd Edn., , Cold Spring Harbor Laboratory Press, Cold Spring Harbor, NY Lozzio, C.B., Lozzio, B.B., Human chronic myelogeneous leukemia cell line with positive Philadelphia chromosome (1975) Blood, 45, pp. 321-324 Herbomel, P., Bourachot, B., Yaniv, M., Two distinct enhances with different cell specificities coexist in the regulatory region of polyoma (1984) Cell, 39, pp. 653-662 Ottolenghi, S., Mantovani, R., Nicolis, S., Ronchi, A., Giglioni, B., DNA sequences regulating human globin gene transcription in nondeletional hereditary persistence of fetal hemoglobin (1989) Hemoglobin, 13, pp. 523-541 Gumucio, D.L., Lockwood, W.K., Weber, J.L., Saulino, A.M., Delgrosso, K., Surrey, S., Schwartz, E., Collins, F.S., The -175 T→C mutation increases promoter strength in erythroid cells: Correlation with evolutionary conservation of binding sites for two trans-acting factors (1990) Blood, 75, pp. 756-761 Loyd, J.A., Lee, R.F., Lingrel, J.B., Mutations in two regions upstream of the Aγ-globin gene canonical promoter affect gene expression (1989) Nucleic Acids Research, 17, pp. 4339-4352 Martin, D.I.K., Tsai, S., Orkin, S.H., Increased γ-globin expression in a nondeletion HPFH mediated by an erythroid-specific DNA-binding factor (1989) Nature, 338, pp. 435-438 Ulrich, M., Ley, T.J., Function of normal and mutated γ-globin gene promoters in electroporated K562 erythroleukemia cells (1990) Blood, 75, pp. 990-999 Rixon, M.W., Gelinas, R.E., A fetal globin gene mutation in Aγ nondeletion hereditary persistence of fetal hemoglobin increases promoter strength in a nonerythroid cell (1988) Molecular and Cellular Biology, 8, pp. 713-721 Ulrich, M.J., Gray, W.J., Ley, T.J., An intramolecular DNA triplex is disrupted by point mutations associated with hereditary persistence of fetal hemoglobin (1992) Journal of Biological Chemistry, 267, pp. 18649-18658 Labie, D., Elton, J., Sequence polymorphisms of potential functional relevance in the beta-globin gene locus (1996) Hemoglobin, 20, pp. 85-101 Langdon, S.D., Kaufman, R.E., Gamma-globin gene promoter elements required for interaction with globin enhancers (1998) Blood, 91, pp. 309-318