메뉴 건너뛰기




Volumn 51, Issue 1, 1996, Pages 12-18

Two mutations in the locus control region hypersensitivity site-2 (5′HS-2) of haplotype 19 βs chromosomes alter binding of trans-acting factors

Author keywords

Fetal hemoglobin; Locus control region; Sickle cell anemia; Sp1; Trans acting factors

Indexed keywords

HEMOGLOBIN F; TRANS ACTING FACTOR;

EID: 0030050904     PISSN: 03618609     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1096-8652(199601)51:1<12::AID-AJH3>3.0.CO;2-A     Document Type: Article
Times cited : (4)

References (37)
  • 3
    • 0017880649 scopus 로고
    • Natural history of sickle cell anemia in Saudi Arabs: A study of 270 subjects
    • Perrine RP, Pembrey ME, John P, Perrine S, Shoup F: Natural history of sickle cell anemia in Saudi Arabs: a study of 270 subjects. Ann Intern Med 88:1, 1978.
    • (1978) Ann Intern Med , vol.88 , pp. 1
    • Perrine, R.P.1    Pembrey, M.E.2    John, P.3    Perrine, S.4    Shoup, F.5
  • 4
    • 0018969574 scopus 로고
    • Hb F synthesis in sickle cell anemia: A comparison of Saudi Arab cases with those of African origin
    • Wood WG, Pembrey Me, Serjeant GR, Perrine RP, Weatherall DJ: Hb F synthesis in sickle cell anemia: a comparison of Saudi Arab cases with those of African origin. Br J Haematol 45:431, 1980.
    • (1980) Br J Haematol , vol.45 , pp. 431
    • Wood, W.G.1    Pembrey, Me.2    Serjeant, G.R.3    Perrine, R.P.4    Weatherall, D.J.5
  • 5
    • 0012953756 scopus 로고
    • γδβ-Thalassemia due to a de novo mutation deleting the 5′ β-globin gene activation-region hypersensitive sites
    • Driscoll MC, Dobkin CS, Alter BP: γδβ-Thalassemia due to a de novo mutation deleting the 5′ β-globin gene activation-region hypersensitive sites. Proc Natl Acad Sci USA 86:7470, 1989.
    • (1989) Proc Natl Acad Sci USA , vol.86 , pp. 7470
    • Driscoll, M.C.1    Dobkin, C.S.2    Alter, B.P.3
  • 7
  • 8
    • 0023663887 scopus 로고
    • Position-independent, high-level expression of the human β-globin gene in transgenic mice
    • Grosveld F, van Assendelft GB, Greaves DR, Kollias G: Position-independent, high-level expression of the human β-globin gene in transgenic mice. Cell 51:975, 1987.
    • (1987) Cell , vol.51 , pp. 975
    • Grosveld, F.1    Van Assendelft, G.B.2    Greaves, D.R.3    Kollias, G.4
  • 10
    • 0025155693 scopus 로고
    • β-Globin locus activating regions: Conservation of organization, structure, and function
    • Li Q, Zhou B, Powers P, Enver T, Stamatoyannopoulos G: β-Globin locus activating regions: conservation of organization, structure, and function. Proc Natl Acad Sci USA 87:8207, 1990.
    • (1990) Proc Natl Acad Sci USA , vol.87 , pp. 8207
    • Li, Q.1    Zhou, B.2    Powers, P.3    Enver, T.4    Stamatoyannopoulos, G.5
  • 11
    • 0025369610 scopus 로고
    • DNaseI hypersensitive sites 1, 2 and 3 of the human β-globin dominant control region direct position-independent expression
    • Fraser P, Hurst J, Collis P, Grosveld F: DNaseI hypersensitive sites 1, 2 and 3 of the human β-globin dominant control region direct position-independent expression. Nucleic Acids Res 18:3503, 1990.
    • (1990) Nucleic Acids Res , vol.18 , pp. 3503
    • Fraser, P.1    Hurst, J.2    Collis, P.3    Grosveld, F.4
  • 12
    • 0024635998 scopus 로고
    • A single erythroid-specific DNase I super-hypersensitive site activates high levels of human β-globin gene expression in transgenic mice
    • Ryan TM, Behringer RB, Martin NC, Townes TM, Palmiter RD, Brinster RL A single erythroid-specific DNase I super-hypersensitive site activates high levels of human β-globin gene expression in transgenic mice. Genes Dev 3:314, 1989.
    • (1989) Genes Dev , vol.3 , pp. 314
    • Ryan, T.M.1    Behringer, R.B.2    Martin, N.C.3    Townes, T.M.4    Palmiter, R.D.5    Brinster, R.L.6
  • 13
    • 0025304168 scopus 로고
    • A 46 base pair enhancer sequence within the locus activating region is required for induced expression of the gamma-globin gene during erythroid differentiation
    • Sorrentino B, Ney P, Bodine D, Nienhius AW: A 46 base pair enhancer sequence within the locus activating region is required for induced expression of the gamma-globin gene during erythroid differentiation. Nucleic Acids Res 18:2721, 1990.
    • (1990) Nucleic Acids Res , vol.18 , pp. 2721
    • Sorrentino, B.1    Ney, P.2    Bodine, D.3    Nienhius, A.W.4
  • 14
    • 0025365230 scopus 로고
    • Detailed analysis of the site 3 region of the human β-globin dominant control region
    • Talbot D, Philipsen S, Fraser P, Grosveld F: Detailed analysis of the site 3 region of the human β-globin dominant control region. EMBO J 9:2169, 1990.
    • (1990) EMBO J , vol.9 , pp. 2169
    • Talbot, D.1    Philipsen, S.2    Fraser, P.3    Grosveld, F.4
  • 15
    • 0026516460 scopus 로고
    • Dissection of the enhancer activity of the β-globin 5′ DNaseI-hypersenstive site 2 in transgenic mice
    • Liu D, Chang JC, Moi P, Liu W, Kan YW, Curtin PT: Dissection of the enhancer activity of the β-globin 5′ DNaseI-hypersenstive site 2 in transgenic mice. Proc Natl Acad Sci USA 89:3899, 1992.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 3899
    • Liu, D.1    Chang, J.C.2    Moi, P.3    Liu, W.4    Kan, Y.W.5    Curtin, P.T.6
  • 16
    • 0027473809 scopus 로고
    • Synthetic human β-globin 5′HS2 constructs function as locus control regions only in multicopy transgene concatamers
    • Ellis J, Talbot D, Dillon N, Grosveld F: Synthetic human β-globin 5′HS2 constructs function as locus control regions only in multicopy transgene concatamers. EMBO J 12:127, 1993.
    • (1993) EMBO J , vol.12 , pp. 127
    • Ellis, J.1    Talbot, D.2    Dillon, N.3    Grosveld, F.4
  • 17
    • 0028357241 scopus 로고
    • Multiple elements in human β-globin locus control region 5′ HS 2 are involved in enhancer activity and position-independent, transgene expression
    • Caterina JJ, Ciavatta DJ, Donze D, Behringer RR, Townes TM: Multiple elements in human β-globin locus control region 5′ HS 2 are involved in enhancer activity and position-independent, transgene expression. Nucleic Acids Res 22:1006, 1994.
    • (1994) Nucleic Acids Res , vol.22 , pp. 1006
    • Caterina, J.J.1    Ciavatta, D.J.2    Donze, D.3    Behringer, R.R.4    Townes, T.M.5
  • 21
    • 0023663884 scopus 로고
    • Isolation of cDNA encoding transcription factor Sp1 and functional analysis of the DNA binding domain
    • Kadonga JT, Carner KR, Masiarz FR, Tjian R: Isolation of cDNA encoding transcription factor Sp1 and functional analysis of the DNA binding domain. Cell 51:1079, 1987
    • (1987) Cell , vol.51 , pp. 1079
    • Kadonga, J.T.1    Carner, K.R.2    Masiarz, F.R.3    Tjian, R.4
  • 22
    • 0027235826 scopus 로고
    • Evidence that the transcription factor USF is a component of the human β-globin locus control region heteromeric protein complex
    • Bresnick EH, Felsenfeld G: Evidence that the transcription factor USF is a component of the human β-globin locus control region heteromeric protein complex. J Biol Chem 268:18824, 1993.
    • (1993) J Biol Chem , vol.268 , pp. 18824
    • Bresnick, E.H.1    Felsenfeld, G.2
  • 23
    • 0027322429 scopus 로고
    • Comparative analysis of the locus control region of the rabbit β-like globin gene cluster: HS3 increases transient expression of an embryonic ε-globin gene
    • Hardison R, Xu J, Jackson J, Mansberger J, Selifonova O, Grotch B, Biesecker J, Petrykowska H, Miller W: Comparative analysis of the locus control region of the rabbit β-like globin gene cluster: HS3 increases transient expression of an embryonic ε-globin gene. Nucleic Acids Res 21:1265, 1993.
    • (1993) Nucleic Acids Res , vol.21 , pp. 1265
    • Hardison, R.1    Xu, J.2    Jackson, J.3    Mansberger, J.4    Selifonova, O.5    Grotch, B.6    Biesecker, J.7    Petrykowska, H.8    Miller, W.9
  • 25
    • 0026091926 scopus 로고
    • Protein-DNA interactions in vivo of an erythroid-specific, human β-globin locus enhancer
    • Reddy PMS, Shen C-K J: Protein-DNA interactions in vivo of an erythroid-specific, human β-globin locus enhancer. Proc Natl Acad Sci USA 88:8676, 1991.
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 8676
    • Reddy, P.M.S.1    Shen, C.-K.J.2
  • 26
    • 0025719104 scopus 로고
    • In vivo protein-DNA interactions at the β-globin gene locus
    • Ikuta T, Kan YW: In vivo protein-DNA interactions at the β-globin gene locus. Proc Natl Acad Sci USA 88:10188, 1991.
    • (1991) Proc Natl Acad Sci USA , vol.88 , pp. 10188
    • Ikuta, T.1    Kan, Y.W.2
  • 27
    • 0028247214 scopus 로고
    • Cloning and functional characterization of LCR-F1 a bZIP transcription factor that activates erythroid-specific, human globin gene expression
    • Caterina JJ, Donze D, Sun C-W, Ciavatta DJ, Townes TM: Cloning and functional characterization of LCR-F1 a bZIP transcription factor that activates erythroid-specific, human globin gene expression. Nucleic Acids Res 22:2383, 1994
    • (1994) Nucleic Acids Res , vol.22 , pp. 2383
    • Caterina, J.J.1    Donze, D.2    Sun, C.-W.3    Ciavatta, D.J.4    Townes, T.M.5
  • 28
    • 0020321974 scopus 로고
    • HEL Cells: A new human erythroleukemia cell line with spontaneous and induced globin expression
    • Martin P, Papayannopoulou T: HEL Cells: a new human erythroleukemia cell line with spontaneous and induced globin expression. Science 216:1233, 1982.
    • (1982) Science , vol.216 , pp. 1233
    • Martin, P.1    Papayannopoulou, T.2
  • 29
    • 0023583239 scopus 로고
    • Interactions of protein with DNA in vitro
    • Hennighausen L, Lubon H: Interactions of protein with DNA in vitro. Methods Enzymol 152:721, 1987.
    • (1987) Methods Enzymol , vol.152 , pp. 721
    • Hennighausen, L.1    Lubon, H.2
  • 30
    • 0025933837 scopus 로고
    • Interaction of Sp1 with the human γ 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 γ globin promoter: binding and transactivation of normal and mutant promoters. Blood 78:1853, 1991.
    • (1991) Blood , vol.78 , pp. 1853
    • Gumucio, D.L.1    Rood, K.L.2    Blanchard-McQuate, K.L.3    Gray, T.A.4    Saulino, A.5    Collins, F.S.6
  • 32
    • 0027417886 scopus 로고
    • Each hypersensitive site of the human β-globin locus control region confers a different developmental pattern of expression on the globin genes
    • Fraser P, Pruzina S, Antoniou M, Grosveld F: Each hypersensitive site of the human β-globin locus control region confers a different developmental pattern of expression on the globin genes. Genes Dev 7:106, 1993.
    • (1993) Genes Dev , vol.7 , pp. 106
    • Fraser, P.1    Pruzina, S.2    Antoniou, M.3    Grosveld, F.4
  • 34
    • 0024848166 scopus 로고
    • Increased Sp1 binding mediates erythroid-specific overexpression of a mutated (HPFH) γ-globin promoter
    • Ronchi A, Nicolis S, Santoro C, Ottolenghi S: Increased Sp1 binding mediates erythroid-specific overexpression of a mutated (HPFH) γ-globin promoter. Nucleic Acids Res 17:10231, 1989.
    • (1989) Nucleic Acids Res , vol.17 , pp. 10231
    • Ronchi, A.1    Nicolis, S.2    Santoro, C.3    Ottolenghi, S.4
  • 35
    • 0025784603 scopus 로고
    • Transcription factors nuclear factor 1 and Sp1 interact with the marine collagen α1(I) promoter
    • Nehls MC, Rippe RA, Veloz L, Brenner DA: Transcription factors nuclear factor 1 and Sp1 interact with the marine collagen α1(I) promoter. Mol Cell Biol 11:4065, 1991.
    • (1991) Mol Cell Biol , vol.11 , pp. 4065
    • Nehls, M.C.1    Rippe, R.A.2    Veloz, L.3    Brenner, D.A.4
  • 36
    • 0024604148 scopus 로고
    • Measurement of the binding of transcription factor Sp1 to a single GC box recognition sequence
    • Letovsky J, Dynan WS: Measurement of the binding of transcription factor Sp1 to a single GC box recognition sequence. Nucleic Acids Res 17:2639, 1989.
    • (1989) Nucleic Acids Res , vol.17 , pp. 2639
    • Letovsky, J.1    Dynan, W.S.2
  • 37
    • 0022476213 scopus 로고
    • Distinct transcription factors bind specifically to two regions of the human histone H4 promoter
    • Dailey L, Hanly SM, Roeder RG, Heintz N: Distinct transcription factors bind specifically to two regions of the human histone H4 promoter. Proc Natl Acad Sci USA 83:7241, 1986
    • (1986) Proc Natl Acad Sci USA , vol.83 , pp. 7241
    • Dailey, L.1    Hanly, S.M.2    Roeder, R.G.3    Heintz, N.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.