메뉴 건너뛰기




Volumn 32, Issue 6, 2008, Pages 572-581

The 5′ regulatory region of the human fetal globin genes is a gene conversion hotspot

Author keywords

A Globin gene; G Globin gene; Fetal globin genes; Fetal hemoglobin (Hb); Gene conversion; Sequence homogenization; Sequence variations

Indexed keywords

GAMMA GLOBIN; HEMOGLOBIN F;

EID: 57449085988     PISSN: 03630269     EISSN: 1532432X     Source Type: Journal    
DOI: 10.1080/03630260802507824     Document Type: Article
Times cited : (4)

References (24)
  • 2
    • 0019880169 scopus 로고
    • Intrachromosomal gene conversion in yeast
    • Klein HL, Petes TD. Intrachromosomal gene conversion in yeast. Nature. 1981; 289(5794):144-148.
    • (1981) Nature , vol.289 , Issue.5794 , pp. 144-148
    • Klein, H.L.1    Petes, T.D.2
  • 3
    • 0018952782 scopus 로고
    • Aγ-globin genes: Complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes
    • Aγ-globin genes: Complete nucleotide sequences suggest that DNA can be exchanged between these duplicated genes. Cell. 1980; 21(3):627-638.
    • (1980) Cell , vol.21 , Issue.3 , pp. 627-638
    • Slightom, J.L.1    Blechi, A.E.2    Smithies, O.3
  • 4
    • 0019790943 scopus 로고
    • A history of the human fetal globin gene duplication
    • Shen S, Slightom JL, Smithies O. A history of the human fetal globin gene duplication. Cell. 1981; 26(2 Part 2):191-203.
    • (1981) Cell , vol.26 , Issue.2 PART 2 , pp. 191-203
    • Shen, S.1    Slightom, J.L.2    Smithies, O.3
  • 5
    • 0025816675 scopus 로고
    • Duplication of the γ-globin gene mediated by L1 long interspersed repetitive elements in an early ancestor of simian primates
    • Fitch DH, Bailey WJ, Tagle DA, Goodman M, Sieu L, Slightom JL. Duplication of the γ-globin gene mediated by L1 long interspersed repetitive elements in an early ancestor of simian primates. Proc Natl Acad Sci USA. 1991; 88(16):7396-7400.
    • (1991) Proc Natl Acad Sci USA , vol.88 , Issue.16 , pp. 7396-7400
    • Fitch, D.H.1    Bailey, W.J.2    Tagle, D.A.3    Goodman, M.4    Sieu, L.5    Slightom, J.L.6
  • 7
    • 0021044736 scopus 로고
    • Boundaries of gene conversion within the duplicated human α-globin genes. Concerted evolution by segmental recombination
    • Michelson AM, Orkin SH. Boundaries of gene conversion within the duplicated human α-globin genes. Concerted evolution by segmental recombination. J Biol Chem. 1983; 258(24):15245-15254
    • (1983) J Biol Chem , vol.258 , Issue.24 , pp. 15245-15254
    • Michelson, A.M.1    Orkin, S.H.2
  • 8
    • 0033049472 scopus 로고    scopus 로고
    • Contribution of gene conversion in the evolution of the human β-like globin genes family
    • Papadakis MN, Patrinos GP. Contribution of gene conversion in the evolution of the human β-like globin genes family. Hum Genet. 1999; 104(2):117-125.
    • (1999) Hum Genet , vol.104 , Issue.2 , pp. 117-125
    • Papadakis, M.N.1    Patrinos, G.P.2
  • 9
    • 34248556308 scopus 로고    scopus 로고
    • Characterization of the -16C > G sequence variation in the promoters of both HBG1 and HBG2: Convergent evolution of the human γ-globin genes
    • de Vooght KM, van Wijk R, Ploos van Amstel HK, van Solinge WW. Characterization of the -16C > G sequence variation in the promoters of both HBG1 and HBG2: convergent evolution of the human γ-globin genes. Blood Cells Mol Dis. 2007; 39(1):70-74.
    • (2007) Blood Cells Mol Dis , vol.39 , Issue.1 , pp. 70-74
    • de Vooght, K.M.1    van Wijk, R.2    Ploos van Amstel, H.K.3    van Solinge, W.W.4
  • 10
    • 0028177922 scopus 로고
    • The -158 (C→T) promoter mutation is responsible for the increased transcription of the 3′ γ gene in the Atlanta type of hereditary persistence of fetal hemoglobin
    • Efremov DG, Dimovski AJ, Huisman THJ. The -158 (C→T) promoter mutation is responsible for the increased transcription of the 3′ γ gene in the Atlanta type of hereditary persistence of fetal hemoglobin. Blood. 1994; 83(11):3350-3355.
    • (1994) Blood , vol.83 , Issue.11 , pp. 3350-3355
    • Efremov, D.G.1    Dimovski, A.J.2    Huisman, T.H.J.3
  • 13
    • 0025197914 scopus 로고
    • Denaturing gradient gel electrophoresis and direct sequencing of PCR amplified genomic DNA: A rapid and reliable diagnostic approach to β thalassemia
    • Losekoot M, Fodde R, Harteveld CL, van Heeren H, Giordano PC, Bernini LF. Denaturing gradient gel electrophoresis and direct sequencing of PCR amplified genomic DNA: A rapid and reliable diagnostic approach to β thalassemia. Br J Haematol. 1990; 76(2):269-274.
    • (1990) Br J Haematol , vol.76 , Issue.2 , pp. 269-274
    • Losekoot, M.1    Fodde, R.2    Harteveld, C.L.3    van Heeren, H.4    Giordano, P.C.5    Bernini, L.F.6
  • 14
    • 0028214609 scopus 로고
    • Rapid detection of deletions causing δβ thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification
    • Craig JE, Barnetson RA, Prior J, Raven JL, Thein SL. Rapid detection of deletions causing δβ thalassemia and hereditary persistence of fetal hemoglobin by enzymatic amplification. Blood. 1994; 83(6):1673-1682.
    • (1994) Blood , vol.83 , Issue.6 , pp. 1673-1682
    • Craig, J.E.1    Barnetson, R.A.2    Prior, J.3    Raven, J.L.4    Thein, S.L.5
  • 15
    • 34347333367 scopus 로고    scopus 로고
    • Large-scale population genetic analysis for hemoglobinopathies reveals different mutation spectra in central Greece compared to the rest of the country
    • Samara M, Chiotoglou I, Kalamaras A, Likousi S et al. Large-scale population genetic analysis for hemoglobinopathies reveals different mutation spectra in central Greece compared to the rest of the country. Am J Hematol. 2007; 82(7):634-636.
    • (2007) Am J Hematol , vol.82 , Issue.7 , pp. 634-636
    • Samara, M.1    Chiotoglou, I.2    Kalamaras, A.3    Likousi, S.4
  • 20
    • 0036190154 scopus 로고    scopus 로고
    • HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server
    • Hardison RC, Chui DHK, Giardine B et al. HbVar: A relational database of human hemoglobin variants and thalassemia mutations at the globin gene server. Hum Mutat. 2002; 19(3):225-233 (http://globin.bx.psu.edu/hbvat).
    • (2002) Hum Mutat , vol.19 , Issue.3 , pp. 225-233
    • Hardison, R.C.1    Chui, D.H.K.2    Giardine, B.3
  • 21
    • 0347125141 scopus 로고    scopus 로고
    • Patrinos GP, Giardine B, Riemer C et al. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res. 2004; 32(Database issue):D537-D541 (http://globin.bx.psu.edu/hbvat).
    • Patrinos GP, Giardine B, Riemer C et al. Improvements in the HbVar database of human hemoglobin variants and thalassemia mutations for population and sequence variation studies. Nucleic Acids Res. 2004; 32(Database issue):D537-D541 (http://globin.bx.psu.edu/hbvat).
  • 22
    • 2442687968 scopus 로고    scopus 로고
    • Recording human globin gene variation
    • Patrinos GP, Wajcman H. Recording human globin gene variation. Hemoglobin. 2004; 28(2):v-vii (http//globin.cse.psu.edu).
    • (2004) Hemoglobin , vol.28 , Issue.2
    • Patrinos, G.P.1    Wajcman, H.2
  • 23
    • 33846045774 scopus 로고    scopus 로고
    • HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update
    • Giardine B, van Baal S, Kaimakis P et al. HbVar database of human hemoglobin variants and thalassemia mutations: 2007 update. Hum Mutat. 2007; 28(2):206 (http://globin.bx.psu.eud/hbvat).
    • (2007) Hum Mutat , vol.28 , Issue.2 , pp. 206
    • Giardine, B.1    van Baal, S.2    Kaimakis, P.3
  • 24
    • 0036238890 scopus 로고    scopus 로고
    • A comparative study of Greek non-deletional hereditary persistence of fetal hemoglobin and β-thalassemia compound heterozygotes
    • Papadakis MN, Patrinos GP, Tsaftaridis P, Loutradi-Anagnostou A. A comparative study of Greek non-deletional hereditary persistence of fetal hemoglobin and β-thalassemia compound heterozygotes. J Mol Med. 2002; 80(4)243-247.
    • (2002) J Mol Med , vol.80 , Issue.4 , pp. 243-247
    • Papadakis, M.N.1    Patrinos, G.P.2    Tsaftaridis, P.3    Loutradi-Anagnostou, A.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.