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Volumn 63, Issue 1, 2000, Pages 16-19

A novel four base-pair deletion within the Aγ-globin gene promoter associated with slight increase of Aγ expression in adult

Author keywords

Hereditary persistance of fetal hemoglobin; Human fetal globin gene; Promoter mutation; Small deletion

Indexed keywords

RESTRICTION ENDONUCLEASE;

EID: 0033981943     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8652(200001)63:1<16::AID-AJH4>3.0.CO;2-W     Document Type: Article
Times cited : (8)

References (26)
  • 1
    • 0002398438 scopus 로고
    • Hemoglobin switching
    • Stamatoyannopoulos G, Nienhuis AW, Majerus PW, Varmus H, editors. Philadelphia: W.B. Saunders
    • Stamatoyannopoulos G, Nienhuis AW. Hemoglobin switching. In: Stamatoyannopoulos G, Nienhuis AW, Majerus PW, Varmus H, editors. The molecular basis of blood diseases. Philadelphia: W.B. Saunders, 1994.
    • (1994) The Molecular Basis of Blood Diseases
    • Stamatoyannopoulos, G.1    Nienhuis, A.W.2
  • 3
    • 36949068851 scopus 로고
    • Estimation of small percentages of foetal haemoglobin
    • Betke K, Marti HR, Schlicht I. Estimation of small percentages of foetal haemoglobin. Nature 1959;184:1877.
    • (1959) Nature , vol.184 , pp. 1877
    • Betke, K.1    Marti, H.R.2    Schlicht, I.3
  • 5
    • 0018842472 scopus 로고
    • Globin chain electrophoresis: A new approach to the determination of the Gγ/Aγ ratio in fetal haemoglobin and to studies of globin synthesis
    • Alter BP, Goff SC, Efremov GD, Gravely ME, Huisman THJ. Globin chain electrophoresis: a new approach to the determination of the Gγ/Aγ ratio in fetal haemoglobin and to studies of globin synthesis. Br J Haematol 1980;44:527.
    • (1980) Br J Haematol , vol.44 , pp. 527
    • Alter, B.P.1    Goff, S.C.2    Efremov, G.D.3    Gravely, M.E.4    Huisman, T.H.J.5
  • 8
    • 0024376665 scopus 로고
    • Polymerase chain reaction amplification applied to the determination of β-like globin gene cluster haplotypes
    • Sutton M, Bouhassira EE, Nagel RL. Polymerase chain reaction amplification applied to the determination of β-like globin gene cluster haplotypes. Am J Hematol 1989;32:66.
    • (1989) Am J Hematol , vol.32 , pp. 66
    • Sutton, M.1    Bouhassira, E.E.2    Nagel, R.L.3
  • 11
    • 0023904510 scopus 로고
    • Four hase-pair DNA deletion in human Aγ-globin-gene promoter associated with low Aγ expression in adults
    • Gilman JG, Johnson ME, Mishima N. Four hase-pair DNA deletion in human Aγ-globin-gene promoter associated with low Aγ expression in adults. Br J Haematol 1988;68:455.
    • (1988) Br J Haematol , vol.68 , pp. 455
    • Gilman, J.G.1    Johnson, M.E.2    Mishima, N.3
  • 12
    • 0026801549 scopus 로고
    • A haplotype-linked four base-pair deletion upstream of the Aγ-globin gene coincides with decreased gene expression
    • Beldjord C, Ducrocq R, Nadifi S, Lapoumeroulie C, Elion J, Labie D. A haplotype-linked four base-pair deletion upstream of the Aγ-globin gene coincides with decreased gene expression. Hum Genet 1992;89: 625.
    • (1992) Hum Genet , vol.89 , pp. 625
    • Beldjord, C.1    Ducrocq, R.2    Nadifi, S.3    Lapoumeroulie, C.4    Elion, J.5    Labie, D.6
  • 14
    • 0026801549 scopus 로고
    • A haplotype-linked four base-pair deletion upstream of the Aγ-globin gene coincides with decreased gene expression
    • Beldjord C, Ducrocq R, Nadifi S, Lapoumeroulie C, Elion J, Labie D. A haplotype-linked four base-pair deletion upstream of the Aγ-globin gene coincides with decreased gene expression. Hum Genet 1992;89: 625.
    • (1992) Hum Genet , vol.89 , pp. 625
    • Beldjord, C.1    Ducrocq, R.2    Nadifi, S.3    Lapoumeroulie, C.4    Elion, J.5    Labie, D.6
  • 15
    • 0026643123 scopus 로고
    • Identification of a stage selector element in the human γ-globin gene promoter that fosters preferential interaction with 5′ HS2 enhancer when in competition with the β-promoter
    • Jane SM, Ney PA, Vanin EF, Gumucio DL, Nienhuis AW. Identification of a stage selector element in the human γ-globin gene promoter that fosters preferential interaction with 5′ HS2 enhancer when in competition with the β-promoter. EMBO J 1992;11:2961.
    • (1992) EMBO J , vol.11 , pp. 2961
    • Jane, S.M.1    Ney, P.A.2    Vanin, E.F.3    Gumucio, D.L.4    Nienhuis, A.W.5
  • 16
    • 0027245556 scopus 로고
    • Methylation-enhanced binding of Sp1 to the stage selector element of the human γ-globin gene promoter may regulate developmental specificity of expression
    • Jane SM, Gumucio DL, Ney PA, Cunningham JM, Nienhuis AW. Methylation-enhanced binding of Sp1 to the stage selector element of the human γ-globin gene promoter may regulate developmental specificity of expression. Mol Cell Biol 1993;13:3272.
    • (1993) Mol Cell Biol , vol.13 , pp. 3272
    • Jane, S.M.1    Gumucio, D.L.2    Ney, P.A.3    Cunningham, J.M.4    Nienhuis, A.W.5
  • 17
    • 0025180839 scopus 로고
    • A novel C-T transition within the distal CCAAT motif of the Gγ-globin gene in the Japanese HPFH: Implication of factor binding in elevated fetal globin expression
    • Fucharoen S, Shimizu K, Fukumaki Y. A novel C-T transition within the distal CCAAT motif of the Gγ-globin gene in the Japanese HPFH: implication of factor binding in elevated fetal globin expression. Nucleic Acids Res 1990;18:5245.
    • (1990) Nucleic Acids Res , vol.18 , pp. 5245
    • Fucharoen, S.1    Shimizu, K.2    Fukumaki, Y.3
  • 18
    • 0024407770 scopus 로고
    • The deletion in the distal CCAAT box region of the Aγ-globin gene in black HPFH abolishes the binding of the erythroid specific protein NFE3 and of the CCAAT displacement protein
    • Mantovani R, Superti-Furga G, Gilman J, Ottolenghi S. The deletion in the distal CCAAT box region of the Aγ-globin gene in black HPFH abolishes the binding of the erythroid specific protein NFE3 and of the CCAAT displacement protein. Nucleic Acids Res 1989;17:6681.
    • (1989) Nucleic Acids Res , vol.17 , pp. 6681
    • Mantovani, R.1    Superti-Furga, G.2    Gilman, J.3    Ottolenghi, S.4
  • 19
    • 0023733224 scopus 로고
    • Nuclear proteins that bind the human γ-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 γ-globin gene promoter: alterations in binding produced by point mutations associated with hereditary persistence of fetal hemoglobin. Mol Cell Biol 1988;8:5310.
    • (1988) Mol Cell Biol , vol.8 , pp. 5310
    • Gumucio, D.L.1    Rood, K.L.2    Gray, T.A.3    Riordan, M.F.4    Sartor, C.I.5    Collins, F.S.6
  • 20
    • 0023695889 scopus 로고
    • The effects of HPFH mutations in the human γ-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 γ-globin promoter on binding of ubiquitous and erythroid specific nuclear factors. Nucleic Acids Res 1988;16:7783.
    • (1988) Nucleic Acids Res , vol.16 , pp. 7783
    • Mantovani, R.1    Malgaretti, N.2    Nicolis, S.3    Ronchi, A.4    Giglioni, B.5    Ottolenghi, S.6
  • 21
    • 0001274728 scopus 로고
    • Induction of the human γ-globin gene promoter in K562 cells by sodium buytrate: Reversal of repression by CCAAT displacement protein
    • McDonagh KT, Nienhuis AW. Induction of the human γ-globin gene promoter in K562 cells by sodium buytrate: reversal of repression by CCAAT displacement protein. Blood 1991;78:255a.
    • (1991) Blood , vol.78
    • McDonagh, K.T.1    Nienhuis, A.W.2
  • 22
    • 0024848166 scopus 로고
    • Increased Sp1 binding mediates erythroid-specific over-expression of a mutated (HPFH) γ-globin promoter
    • Ronchi A, Nicholis S, Santoro C, Ottolenghi S. Increased Sp1 binding mediates erythroid-specific over-expression of a mutated (HPFH) γ-globin promoter. Nucleic Acids Res 1989;17: 0231.
    • (1989) Nucleic Acids Res , vol.17 , pp. 0231
    • Ronchi, A.1    Nicholis, S.2    Santoro, C.3    Ottolenghi, S.4
  • 23
    • 0026005352 scopus 로고
    • The upstream region of the human γ-globin gene promoter: Identification and functional analysis of nuclear protein binding site
    • McDonagh KT, Lin HJ, Lowrey CH, Bodine DM, Nienhuis AW. The upstream region of the human γ-globin gene promoter: identification and functional analysis of nuclear protein binding site. J Biol Chem 1991;266:11965.
    • (1991) J Biol Chem , vol.266 , pp. 11965
    • McDonagh, K.T.1    Lin, H.J.2    Lowrey, C.H.3    Bodine, D.M.4    Nienhuis, A.W.5
  • 25
    • 0026758357 scopus 로고
    • A tissue-specific MAR/SAR DNA-binding protein with unusual binding site recognition
    • Dickinson LA, Joh T, Kohwi Y, Kohwi-Shigematsu T. A tissue-specific MAR/SAR DNA-binding protein with unusual binding site recognition. Cell 1992;70:631.
    • (1992) Cell , vol.70 , pp. 631
    • Dickinson, L.A.1    Joh, T.2    Kohwi, Y.3    Kohwi-Shigematsu, T.4
  • 26
    • 0025900114 scopus 로고
    • Boundary functions in the control of gene expression
    • Eissenberg JC, Elgin SC. Boundary functions in the control of gene expression. Trends Genet 1991;7:335.
    • (1991) Trends Genet , vol.7 , pp. 335
    • Eissenberg, J.C.1    Elgin, S.C.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.