메뉴 건너뛰기




Volumn 71, Issue 6, 2003, Pages 418-424

Analysis of the mechanism of action of the Brazilian type ( Aγ-195 C → G) of hereditary persistence of fetal hemoglobin

Author keywords

195 C G gamma globin mutation; Electrophoretic mobility shift assay; Gene expression; Hereditary persistence of fetal hemoglobin; Sp1

Indexed keywords

ALPHA GLOBIN; GUANINE NUCLEOTIDE; HEMOGLOBIN F; PREGNANCY SPECIFIC BETA1 GLYCOPROTEIN; PYRIMIDINE NUCLEOTIDE;

EID: 0345393119     PISSN: 09024441     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.0902-4441.2003.00161.x     Document Type: Article
Times cited : (5)

References (29)
  • 1
    • 0021922286 scopus 로고
    • A point mutation in the A gamma-globin gene promoter in Greek hereditary persistence of fetal haemoglobin
    • COLLINS FS, METHERALL JE, YAMAKAWA M, PAN J, WEISSMAN SM, FORGET BG. A point mutation in the A gamma-globin gene promoter in Greek hereditary persistence of fetal haemoglobin. Nature 1985;313:325-326.
    • (1985) Nature , vol.313 , pp. 325-326
    • Collins, F.S.1    Metherall, J.E.2    Yamakawa, M.3    Pan, J.4    Weissman, S.M.5    Forget, B.G.6
  • 2
    • 0024586233 scopus 로고
    • 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
    • STOMING TA, STOMING GS, LANCLOS KD, FEI YJ, ALTAY C, KUTLAR F, HUISMAN TH. 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. Blood 1989;73:329-333.
    • (1989) Blood , vol.73 , pp. 329-333
    • Stoming, T.A.1    Stoming, G.S.2    Lanclos, K.D.3    Fei, Y.J.4    Altay, C.5    Kutlar, F.6    Huisman, T.H.7
  • 3
    • 0025203143 scopus 로고
    • The Brazilian type of nondeletional A gamma-fetal hemoglobin has a C → G substitution at nucleotide -195 of the A gamma-globin gene
    • COSTA FF, ZAGO MA, CHENG G, NECHTMAN JF, STOMING TA, HUISMAN TH. The Brazilian type of nondeletional A gamma-fetal hemoglobin has a C → G substitution at nucleotide -195 of the A gamma-globin gene. Blood 1990;76:1896-1897.
    • (1990) Blood , vol.76 , pp. 1896-1897
    • Costa, F.F.1    Zago, M.A.2    Cheng, G.3    Nechtman, J.F.4    Stoming, T.A.5    Huisman, T.H.6
  • 4
    • 0022501159 scopus 로고
    • Chinese A gamma fetal hemoglobin: C to T substitution at position-196 of the A gamma gene promoter
    • GELINAS R, BENDER M, LOTSHAW C, WABER P, KAZAZIAN H Jr, STAMATOYANNOPOULOS G. Chinese A gamma fetal hemoglobin: C to T substitution at position-196 of the A gamma gene promoter. Blood 1986;67:1777-1779.
    • (1986) Blood , vol.67 , pp. 1777-1779
    • Gelinas, R.1    Bender, M.2    Lotshaw, C.3    Waber, P.4    Kazazian Jr., H.5    Stamatoyannopoulos, G.6
  • 5
    • 0022893970 scopus 로고
    • 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
    • TATE VE, WOOD WG, WEATHERALL DJ. 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. Blood 1986;68: 1389-1393.
    • (1986) Blood , vol.68 , pp. 1389-1393
    • Tate, V.E.1    Wood, W.G.2    Weatherall, D.J.3
  • 6
    • 0023680450 scopus 로고
    • Upstream promoter mutation associated with a modest elevation of fetal hemoglobin expression in human adults
    • GILMAN JG, MISHIMA N, WEN XJ, KUTLAR F, HUISMAN TH. Upstream promoter mutation associated with a modest elevation of fetal hemoglobin expression in human adults. Blood 1988;72:78-81.
    • (1988) Blood , vol.72 , pp. 78-81
    • Gilman, J.G.1    Mishima, N.2    Wen, X.J.3    Kutlar, F.4    Huisman, T.H.5
  • 8
    • 0021958921 scopus 로고
    • G to A substitution in the distal CCAAT box of the A gamma-globin gene in Greek hereditary persistence of fetal haemoglobin
    • 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. Nature 1985; 313:323-325.
    • (1985) Nature , vol.313 , pp. 323-325
    • Gelinas, R.1    Endlich, B.2    Pfeiffer, C.3    Yagi, M.4    Stamatoyannopoulos, G.5
  • 9
    • 0023944623 scopus 로고
    • Sardinian G gamma-HPFH: A T → C substitution in a conserved "octamer" sequence in the G gamma-globin promoter
    • OTTOLENGHI S, NICOLIS S, TARAMELLI R, et al. Sardinian G gamma-HPFH: a T → C substitution in a conserved "octamer" sequence in the G gamma-globin promoter. Blood 1988;71:815-817.
    • (1988) Blood , vol.71 , pp. 815-817
    • Ottolenghi, S.1    Nicolis, S.2    Taramelli, R.3
  • 10
    • 0023918956 scopus 로고
    • 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
    • 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. Blood 1988;71:807-810.
    • (1988) Blood , vol.71 , pp. 807-810
    • Surrey, S.1    Delgrosso, K.2    Malladi, P.3    Schwartz, E.4
  • 11
    • 0035863192 scopus 로고    scopus 로고
    • Analysis of the mechanism of action of non-deletion hereditary persistence of fetal hemoglobin mutants in transgenic mice
    • Li Q, DUAN ZJ, STAMATOYANNOPOULOS G. Analysis of the mechanism of action of non-deletion hereditary persistence of fetal hemoglobin mutants in transgenic mice. EMBO J 2001;20:157-164.
    • (2001) EMBO J , vol.20 , pp. 157-164
    • Li, Q.1    Duan, Z.J.2    Stamatoyannopoulos, G.3
  • 12
    • 0024094955 scopus 로고
    • The -117 mutation in Greek HPFH affects the binding of three nuclear factors to the CCAAT region of the gamma-globin gene
    • 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. EMBO J 1988;7:3099-3107.
    • (1988) EMBO J , vol.7 , pp. 3099-3107
    • Superti-Furga, G.1    Barberis, A.2    Schaffner, G.3    Busslinger, M.4
  • 13
    • 0023695889 scopus 로고
    • The effects of HPFH mutations in the human gamma-globin promoter on binding of ubiquitous and erythroid specific nuclear factors
    • 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. Nucleic Acids Res 1988;16:7783-7797.
    • (1988) Nucleic Acids Res , vol.16 , pp. 7783-7797
    • Mantovani, R.1    Malgaretti, N.2    Nicolis, S.3    Ronchi, A.4    Giglioni, B.5    Ottolenghi, S.6
  • 14
    • 0023733224 scopus 로고
    • Nuclear proteins that bind the human gamma-globin gene promoter: Alterations in binding produced by point mutations associated with hereditary persistence of fetal hemoglobin
    • GUMUCIO DL, ROOD KL, GRAY TA, RIORDAN MF, SARTOR CI, COLLINS FS. Nuclear proteins that bind the human gamma-globin gene promoter: alterations in binding produced by point mutations associated with hereditary persistence of fetal hemoglobin. Mol Cell Biol 1988;8: 5310-5322.
    • (1988) Mol Cell Biol , vol.8 , pp. 5310-5322
    • Gumucio, D.L.1    Rood, K.L.2    Gray, T.A.3    Riordan, M.F.4    Sartor, C.I.5    Collins, F.S.6
  • 15
    • 0025017473 scopus 로고
    • A naturally occurring gamma globin gene mutation enhances SP1 binding activity
    • SYKES K, KAUFMAN R. A naturally occurring gamma globin gene mutation enhances SP1 binding activity. MoL Cell Biol 1990;10:95-102.
    • (1990) Mol Cell Biol , vol.10 , pp. 95-102
    • Sykes, K.1    Kaufman, R.2
  • 16
    • 0034929708 scopus 로고    scopus 로고
    • Sp1 and kruppel-like factor family of transcription factors in cell growth regulation and cancer
    • BLACK AR, BLACK JD, AZIZKHAN-CLIFFORD J. Sp1 and kruppel-like factor family of transcription factors in cell growth regulation and cancer. J Cell Physiol 2001;188:143-160.
    • (2001) J Cell Physiol , vol.188 , pp. 143-160
    • Black, A.R.1    Black, J.D.2    Azizkhan-Clifford, J.3
  • 17
    • 0036848530 scopus 로고    scopus 로고
    • Steroid hormones, endometrial gene regulation and the Sp1 family of proteins
    • KRIKUN G, LOCKWOOD CJ. Steroid hormones, endometrial gene regulation and the Sp1 family of proteins. J Soc Gynecol Invest 2002;9:329-334.
    • (2002) J Soc Gynecol Invest , vol.9 , pp. 329-334
    • Krikun, G.1    Lockwood, C.J.2
  • 18
    • 0025933837 scopus 로고
    • Interaction of Sp1 with the human gamma globin promoter: Binding and transactivation of normal and mutant promoters
    • GUMUCIO DL, ROOD KL, BLANCHARD-MCQUATE KL, GRAY TA, SAULINO A, COLLINS FS. Interaction of Sp1 with the human gamma globin promoter: binding and transactivation of normal and mutant promoters. Blood 1991;78:1853-1863.
    • (1991) Blood , vol.78 , pp. 1853-1863
    • Gumucio, D.L.1    Rood, K.L.2    Blanchard-McQuate, K.L.3    Gray, T.A.4    Saulino, A.5    Collins, F.S.6
  • 19
    • 0346511440 scopus 로고    scopus 로고
    • The Agamma-195 (C → G) mutation in hereditary persistence of fetal hemoglobin is not associated with activation of a reporter gene in vitro
    • SCHREIBER R, GONCALVES MS, JUNQUEIRA ML, SAAD ST, KRIEGER JE, COSTA FF. The Agamma-195 (C → G) mutation in hereditary persistence of fetal hemoglobin is not associated with activation of a reporter gene in vitro. Braz J Med Biol Res 2001;34:489-492.
    • (2001) Braz J Med Biol Res , vol.34 , pp. 489-492
    • Schreiber, R.1    Goncalves, M.S.2    Junqueira, M.L.3    Saad, S.T.4    Krieger, J.E.5    Costa, F.F.6
  • 20
    • 0021718116 scopus 로고
    • Erythroleukemia (K562) cells contain a functional beta-globin gene
    • DONOVAN-PELUSO M, YOUNG K, DOBKIN C, BANK A. Erythroleukemia (K562) cells contain a functional beta-globin gene. Mol Cell Biol 1984;4:2553-2555.
    • (1984) Mol Cell Biol , vol.4 , pp. 2553-2555
    • Donovan-Peluso, M.1    Young, K.2    Dobkin, C.3    Bank, A.4
  • 21
    • 0024793204 scopus 로고
    • An erythroid-specific DNA binding factor mediates increased gamma-globin expression in hereditary persistence of fetal hemoglobin (HPFH)
    • MARTIN DI, ORKIN SH. An erythroid-specific DNA binding factor mediates increased gamma-globin expression in hereditary persistence of fetal hemoglobin (HPFH). Prog Clin Biol Res 1989;316A:217-228.
    • (1989) Prog Clin Biol Res , vol.316 A , pp. 217-228
    • Martin, D.I.1    Orkin, S.H.2
  • 22
    • 0023870074 scopus 로고
    • A fetal globin gene mutation in a gamma nondeletion hereditary persistence of fetal hemoglobin increases promoter strength in a nonerythroid cell
    • RIXON MW, GELINAS RE. A fetal globin gene mutation in A gamma nondeletion hereditary persistence of fetal hemoglobin increases promoter strength in a nonerythroid cell. Mol Cell Biol 1988;8:713-721.
    • (1988) Mol Cell Biol , vol.8 , pp. 713-721
    • Rixon, M.W.1    Gelinas, R.E.2
  • 23
    • 0021014031 scopus 로고
    • Cis and trans activation of globin gene transcription in transient assays
    • TREISMAN R, GREEN MR, MANIATIS T. Cis and trans activation of globin gene transcription in transient assays. Proc Natl Acad Sci USA 1983;80:7428-7432.
    • (1983) Proc Natl Acad Sci USA , vol.80 , pp. 7428-7432
    • Treisman, R.1    Green, M.R.2    Maniatis, T.3
  • 24
    • 0024848166 scopus 로고
    • Increased Sp1 binding mediates erythroid-specific overexpression of a mutated (HPFH) gamma-globulin promoter
    • RONCHI A, NICOLIS S, SANTORO C, OTTOLENGHI S. Increased Sp1 binding mediates erythroid-specific overexpression of a mutated (HPFH) gamma-globulin promoter. Nucleic Acids Res 1989;17:10231-10241.
    • (1989) Nucleic Acids Res , vol.17 , pp. 10231-10241
    • Ronchi, A.1    Nicolis, S.2    Santoro, C.3    Ottolenghi, S.4
  • 25
    • 0031964974 scopus 로고    scopus 로고
    • Gamma-globin gene promoter elements required for interaction with globin enhancers
    • LANGDON SD, KAUFMAN RE. Gamma-globin gene promoter elements required for interaction with globin enhancers. Blood 1998;91:309-318.
    • (1998) Blood , vol.91 , pp. 309-318
    • Langdon, S.D.1    Kaufman, R.E.2
  • 26
    • 0030041394 scopus 로고    scopus 로고
    • Hemoglobin switching and fetal hemoglobin reactivation
    • CUNNINGHAM JM, JANE SM. Hemoglobin switching and fetal hemoglobin reactivation. Semin Hematol 1996;33:9-23.
    • (1996) Semin Hematol , vol.33 , pp. 9-23
    • Cunningham, J.M.1    Jane, S.M.2
  • 27
    • 0025193438 scopus 로고
    • 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
    • FISCHER KD, 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. Nucleic Acids Res 1990;18:5685-5693.
    • (1990) Nucleic Acids Res , vol.18 , pp. 5685-5693
    • Fischer, K.D.1    Nowock, J.2
  • 28
    • 0024407140 scopus 로고
    • Nuclear protein factors and erythroid transcription of the human A gamma-globin gene
    • CATALA F, DEBOER E, HABETS G, GROSVELD F. Nuclear protein factors and erythroid transcription of the human A gamma-globin gene. Nucleic Acids Res 1989;17:3811-3827.
    • (1989) Nucleic Acids Res , vol.17 , pp. 3811-3827
    • Catala, F.1    DeBoer, E.2    Habets, G.3    Grosveld, F.4
  • 29
    • 0020724929 scopus 로고
    • Three regions upstream from the cap site are required for efficient and accurate transcription of the rabbit beta-globin gene in mouse 3T6 cells
    • DIERKS P, VAN OOYEN A, COCHRAN MD, 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. Cell 1983;32:695-706.
    • (1983) Cell , vol.32 , pp. 695-706
    • Dierks, P.1    Van Ooyen, A.2    Cochran, M.D.3    Dobkin, C.4    Reiser, J.5    Weissmann, C.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.