Artículos de revistas
Analysis Of The Mechanism Of Action Of The Brazilian Type ( Aγ-195 C → G) Of Hereditary Persistence Of Fetal Hemoglobin
Registro en:
European Journal Of Haematology. , v. 71, n. 6, p. 418 - 424, 2003.
9024441
10.1046/j.0902-4441.2003.00161.x
2-s2.0-0345393119
Autor
Takahashi T.
Schreiber R.
Krieger J.E.
Saad S.T.O.
Costa F.F.
Institución
Resumen
We report an in vitro expression study of the Aγ-globin gene promoter containing the Aγ-195 C → G mutation that causes the Brazilian type of hereditary persistence of fetal hemoglobin (HPFH). To demonstrate that this mutation results in increased promoter strength, we evaluated the mutant promoter linked to the hypersensitive site-2 of the locus control region with the luciferase reporter gene system and examined protein interactions by eletrophoretic mobility shift assay. The transient expression was studied in three cell lines: K562, HEL and 293, and indicated increased promoter activity of the promoter containing the Brazilian mutation in all cell lines. The protein-DNA interaction showed that, in contrast to the Aγ-198 T → C mutation which has increased affinity for the Sp1 protein and creates a motif that behaves like a novel CACCC box in the γ promoter, the Brazilian HPFH mutation decreases the affinity at the Sp1 protein and does not act as a CACCC motif. These results suggest that this mutation may act to increase the Aγ-globin chain production. In addition, the mechanism by which this increased production occurs is different to that of the -198 mutation. Other proteins may be involved in the overexpression of the γ-globin chain and/or may be dependent upon the DNA structure. 71 6 418 424 Collins, F.S., Metherall, J.E., Yamakawa, M., Pan, J., Weissman, S.M., Forget, B.G., A point mutation in the A gamma-globin gene promoter in Greek hereditary persistence of fetal haemoglobin (1985) Nature, 313, pp. 325-326 Stoming, T.A., Stoming, G.S., Lanclos, K.D., Fei, Y.J., Altay, C., Kutlar, F., Huisman, T.H., An A gamma type of non-deletional hereditary persistence of fetal hemoglobin with a T → C mutation at position -175 to the cap site of the A gamma globin gene (1989) Blood, 73, pp. 329-333 Costa, F.F., Zago, M.A., Cheng, G., Nechtman, J.F., Stoming, T.A., Huisman, T.H., The Brazilian type of nondeletional A gamma-fetal hemoglobin has a C → G substitution at nucleotide -195 of the A gamma-globin gene (1990) Blood, 76, pp. 1896-1897 Gelinas, R., Bender, M., Lotshaw, C., Waber, P., Kazazian Jr., H., Stamatoyannopoulos, G., Chinese A gamma fetal hemoglobin: C to T substitution at position-196 of the A gamma gene promoter (1986) Blood, 67, pp. 1777-1779 Tate, V.E., Wood, W.G., Weatherall, D.J., The British form of hereditary persistence of fetal hemoglobin results from a single base mutation adjacent to an S1 hypersensitive site 5' to the A gamma globin gene (1986) Blood, 68, pp. 1389-1393 Gilman, J.G., Mishima, N., Wen, X.J., Kutlar, F., Huisman, T.H., Upstream promoter mutation associated with a modest elevation of fetal hemoglobin expression in human adults (1988) Blood, 72, pp. 78-81 Giglioni, B., Casini, C., Mantovani, R., Merli, S., Comi, P., Ottolenghi, S., Saglio, G., Mazza, U., A molecular study of a family with Greek hereditary persistence of fetal hemoglobin and beta-thalassemia (1984) EMBO J, 3, pp. 2641-2645 Gelinas, R., Endlich, B., Pfeiffer, C., Yagi, M., Stamatoyannopoulos, G., G to A substitution in the distal CCAAT box of the A gamma-globin gene in Greek hereditary persistence of fetal haemoglobin (1985) Nature, 313, pp. 323-325 Ottolenghi, S., Nicolis, S., Taramelli, R., Sardinian G gamma-HPFH: A T → C substitution in a conserved "octamer" sequence in the G gamma-globin promoter (1988) Blood, 71, pp. 815-817 Surrey, S., Delgrosso, K., Malladi, P., Schwartz, E., A single-base change at position -175 in the 5′-flanking region of the G gamma-globin gene from a black with G gamma-beta + HPFH (1988) Blood, 71, pp. 807-810 Li, Q., Duan, Z.J., Stamatoyannopoulos, G., Analysis of the mechanism of action of non-deletion hereditary persistence of fetal hemoglobin mutants in transgenic mice (2001) EMBO J, 20, pp. 157-164 Superti-Furga, G., Barberis, A., Schaffner, G., Busslinger, M., The -117 mutation in Greek HPFH affects the binding of three nuclear factors to the CCAAT region of the gamma-globin gene (1988) EMBO J, 7, pp. 3099-3107 Mantovani, R., Malgaretti, N., Nicolis, S., Ronchi, A., Giglioni, B., Ottolenghi, S., The effects of HPFH mutations in the human gamma-globin promoter on binding of ubiquitous and erythroid specific nuclear factors (1988) Nucleic Acids Res, 16, pp. 7783-7797 Gumucio, D.L., Rood, K.L., Gray, T.A., Riordan, M.F., Sartor, C.I., Collins, F.S., Nuclear proteins that bind the human gamma-globin gene promoter: Alterations in binding produced by point mutations associated with hereditary persistence of fetal hemoglobin (1988) Mol Cell Biol, 8, pp. 5310-5322 Sykes, K., Kaufman, R., A naturally occurring gamma globin gene mutation enhances SP1 binding activity (1990) Mol Cell Biol, 10, pp. 95-102 Black, A.R., Black, J.D., Azizkhan-Clifford, J., Sp1 and kruppel-like factor family of transcription factors in cell growth regulation and cancer (2001) J Cell Physiol, 188, pp. 143-160 Krikun, G., Lockwood, C.J., Steroid hormones, endometrial gene regulation and the Sp1 family of proteins (2002) J Soc Gynecol Invest, 9, pp. 329-334 Gumucio, D.L., Rood, K.L., Blanchard-McQuate, K.L., Gray, T.A., Saulino, A., Collins, F.S., Interaction of Sp1 with the human gamma globin promoter: Binding and transactivation of normal and mutant promoters (1991) Blood, 78, pp. 1853-1863 Schreiber, R., Goncalves, M.S., Junqueira, M.L., Saad, S.T., Krieger, J.E., Costa, F.F., The Agamma-195 (C → G) mutation in hereditary persistence of fetal hemoglobin is not associated with activation of a reporter gene in vitro (2001) Braz J Med Biol Res, 34, pp. 489-492 Donovan-Peluso, M., Young, K., Dobkin, C., Bank, A., Erythroleukemia (K562) cells contain a functional beta-globin gene (1984) Mol Cell Biol, 4, pp. 2553-2555 Martin, D.I., Orkin, S.H., An erythroid-specific DNA binding factor mediates increased gamma-globin expression in hereditary persistence of fetal hemoglobin (HPFH) (1989) Prog Clin Biol Res, 316 A, pp. 217-228 Rixon, M.W., Gelinas, R.E., A fetal globin gene mutation in a gamma nondeletion hereditary persistence of fetal hemoglobin increases promoter strength in a nonerythroid cell (1988) Mol Cell Biol, 8, pp. 713-721 Treisman, R., Green, M.R., Maniatis, T., Cis and trans activation of globin gene transcription in transient assays (1983) Proc Natl Acad Sci USA, 80, pp. 7428-7432 Ronchi, A., Nicolis, S., Santoro, C., Ottolenghi, S., Increased Sp1 binding mediates erythroid-specific overexpression of a mutated (HPFH) gamma-globulin promoter (1989) Nucleic Acids Res, 17, pp. 10231-10241 Langdon, S.D., Kaufman, R.E., Gamma-globin gene promoter elements required for interaction with globin enhancers (1998) Blood, 91, pp. 309-318 Cunningham, J.M., Jane, S.M., Hemoglobin switching and fetal hemoglobin reactivation (1996) Semin Hematol, 33, pp. 9-23 Fischer, K.D., Nowock, J., The T → C substitution at -198 of the A gamma-globin gene associated with the British form of HPFH generates overlapping recognition sites for two DNA-binding proteins (1990) Nucleic Acids Res, 18, pp. 5685-5693 Catala, F., DeBoer, E., Habets, G., Grosveld, F., Nuclear protein factors and erythroid transcription of the human A gamma-globin gene (1989) Nucleic Acids Res, 17, pp. 3811-3827 Dierks, P., Van Ooyen, A., Cochran, M.D., Dobkin, C., Reiser, J., Weissmann, C., Three regions upstream from the cap site are required for efficient and accurate transcription of the rabbit beta-globin gene in mouse 3T6 cells (1983) Cell, 32, pp. 695-706