메뉴 건너뛰기




Volumn 45, Issue 2, 2010, Pages 147-153

Novel large deletions in the human α-globin gene cluster: Clarifying the HS-40 long-range regulatory role in the native chromosome environment

Author keywords

globin gene cluster; thalassemia; HbH; HS 40; Large deletion

Indexed keywords

ALPHA GLOBIN; DEOXYRIBONUCLEASE I;

EID: 77955267950     PISSN: 10799796     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.bcmd.2010.05.010     Document Type: Article
Times cited : (49)

References (24)
  • 1
    • 0001916646 scopus 로고    scopus 로고
    • Molecular mechanisms of α-thalassemia
    • Cambridge University Press, Cambridge, B.G. Forget, M.H. Steinberg, R.L. Nagel, D.R. Higgs (Eds.)
    • Higgs D.R. Molecular mechanisms of α-thalassemia. Disorders of hemoglobin: genetics, pathophysiology, and clinical management 2001, Vol 17:405-430. Cambridge University Press, Cambridge. 1st ed. B.G. Forget, M.H. Steinberg, R.L. Nagel, D.R. Higgs (Eds.).
    • (2001) Disorders of hemoglobin: genetics, pathophysiology, and clinical management , vol.17 , pp. 405-430
    • Higgs, D.R.1
  • 2
    • 0031924708 scopus 로고    scopus 로고
    • Understanding alpha globin gene expression: a step towards effective gene therapy
    • Higgs D.R., Sharpe J.A., Wood W.G. Understanding alpha globin gene expression: a step towards effective gene therapy. Semin. Hematol. 1998, 35:93-104.
    • (1998) Semin. Hematol. , vol.35 , pp. 93-104
    • Higgs, D.R.1    Sharpe, J.A.2    Wood, W.G.3
  • 3
    • 0026747665 scopus 로고
    • Cis-acting sequences regulating expression of the human α-globin cluster lie within constitutively open chromatin
    • Vyas P., Vickers M.A., Simmons D.L., et al. Cis-acting sequences regulating expression of the human α-globin cluster lie within constitutively open chromatin. Cell 1992, 69:781-793.
    • (1992) Cell , vol.69 , pp. 781-793
    • Vyas, P.1    Vickers, M.A.2    Simmons, D.L.3
  • 4
    • 22244458301 scopus 로고    scopus 로고
    • Annotation of cis-regulatory elements by identification, subclassification, and functional assessment of Multispecies conserved sequences
    • Hughes J.R., Cheng J.F., Ventress N., et al. Annotation of cis-regulatory elements by identification, subclassification, and functional assessment of Multispecies conserved sequences. PNAS 2005, 102:9830-9835.
    • (2005) PNAS , vol.102 , pp. 9830-9835
    • Hughes, J.R.1    Cheng, J.F.2    Ventress, N.3
  • 5
    • 41949095010 scopus 로고    scopus 로고
    • Long-range regulation of α globin gene expression during erythropoiesis
    • Higgs D.R., Wood W.G. Long-range regulation of α globin gene expression during erythropoiesis. Curr. Opin. Hematol. 2008, 15:176-183.
    • (2008) Curr. Opin. Hematol. , vol.15 , pp. 176-183
    • Higgs, D.R.1    Wood, W.G.2
  • 6
    • 0024993211 scopus 로고
    • A major positive regulatory region located far upstream of the human alpha-globin gene locus
    • Higgs D.R., Wood W.G., Jarman A.P., et al. A major positive regulatory region located far upstream of the human alpha-globin gene locus. Genes Dev. 1990, 4:1588-1601.
    • (1990) Genes Dev. , vol.4 , pp. 1588-1601
    • Higgs, D.R.1    Wood, W.G.2    Jarman, A.P.3
  • 7
    • 0029130729 scopus 로고
    • Targeted inactivation of the major positive regulatory element (HS-40) of the human alpha-globin gene locus
    • Bernet A., Sabatier S., Picketts D.J., et al. Targeted inactivation of the major positive regulatory element (HS-40) of the human alpha-globin gene locus. Blood 1995, 86:1202-1211.
    • (1995) Blood , vol.86 , pp. 1202-1211
    • Bernet, A.1    Sabatier, S.2    Picketts, D.J.3
  • 8
    • 0027332127 scopus 로고
    • Analysis of the human alpha-globin gene cluster in transgenic mice
    • Sharpe J.A., Wells D.J., Whitelaw E., et al. Analysis of the human alpha-globin gene cluster in transgenic mice. Proc. Natl Acad. Sci. USA 1993, 90:11262-11266.
    • (1993) Proc. Natl Acad. Sci. USA , vol.90 , pp. 11262-11266
    • Sharpe, J.A.1    Wells, D.J.2    Whitelaw, E.3
  • 9
    • 76049125820 scopus 로고    scopus 로고
    • HS -40
    • Vernimmen D., Marques-Kranc F., Sharpe J.A., et al. Chromosome looping at the human alpha-globin locus is mediated via the major upstream regulatory element. Blood 2009, 114:4253-4260.
    • (2009) Blood , vol.114 , pp. 4253-4260
    • Vernimmen, D.1    Marques-Kranc, F.2    Sharpe, J.A.3
  • 11
    • 0025365383 scopus 로고
    • Alpha-thalassemia caused by a large (62kb) deletion upstream of the human alpha globin gene cluster
    • Hatton C.S., Wilkie A.O., Drysdale H.C., et al. Alpha-thalassemia caused by a large (62kb) deletion upstream of the human alpha globin gene cluster. Blood 1990, 76:221-227.
    • (1990) Blood , vol.76 , pp. 221-227
    • Hatton, C.S.1    Wilkie, A.O.2    Drysdale, H.C.3
  • 12
    • 0026042157 scopus 로고
    • α-thalassemia resulting from deletion of regulatory sequences far upstream of the α-globin structural gene
    • 1598-1595
    • Romão L., Osorio-Almeida L., Higgs D.R., Lavinha J., Liebhaber S.A. α-thalassemia resulting from deletion of regulatory sequences far upstream of the α-globin structural gene. Blood 1991, 15. 1598-1595.
    • (1991) Blood , vol.15
    • Romão, L.1    Osorio-Almeida, L.2    Higgs, D.R.3    Lavinha, J.4    Liebhaber, S.A.5
  • 13
    • 0344406182 scopus 로고    scopus 로고
    • De novo deletion within the telomeric region flanking the human alpha globin locus as a cause of alpha thalassaemia
    • Viprakasit V., Kidd A.M., Ayyub H., et al. De novo deletion within the telomeric region flanking the human alpha globin locus as a cause of alpha thalassaemia. Br. J. Haematol. 2003, 120:867-875.
    • (2003) Br. J. Haematol. , vol.120 , pp. 867-875
    • Viprakasit, V.1    Kidd, A.M.2    Ayyub, H.3
  • 14
    • 33646434782 scopus 로고    scopus 로고
    • A novel deletion causing α-thalassemia clarifies the importance of the major human alpha globin regulatory element
    • Viprakasit V., Harteveld C.L., Ayyub H., et al. A novel deletion causing α-thalassemia clarifies the importance of the major human alpha globin regulatory element. Blood 2006, 107:3811-3812.
    • (2006) Blood , vol.107 , pp. 3811-3812
    • Viprakasit, V.1    Harteveld, C.L.2    Ayyub, H.3
  • 15
    • 76849094444 scopus 로고    scopus 로고
    • Thalassemia in Western Australia: 11 novel deletions characterized by multiplex ligation-dependent probe amplification
    • Phylipsen M., Prior J.F., Lim E., et al. Thalassemia in Western Australia: 11 novel deletions characterized by multiplex ligation-dependent probe amplification. Blood Cells Mol. Dis. 2010, 44:146-151.
    • (2010) Blood Cells Mol. Dis. , vol.44 , pp. 146-151
    • Phylipsen, M.1    Prior, J.F.2    Lim, E.3
  • 16
    • 0027397913 scopus 로고
    • Rapid analysis of -alpha 3.7 thalassaemia and alpha alpha alpha anti 3.7 triplication by enzymatic amplification analysis
    • Dodé C., Krishnamoorthy R., Lamb J., et al. Rapid analysis of -alpha 3.7 thalassaemia and alpha alpha alpha anti 3.7 triplication by enzymatic amplification analysis. Br. J. Haematol. 1993, 83:101-111.
    • (1993) Br. J. Haematol. , vol.83 , pp. 101-111
    • Dodé, C.1    Krishnamoorthy, R.2    Lamb, J.3
  • 17
    • 29144480573 scopus 로고    scopus 로고
    • Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification
    • Harteveld C.L., Voskamp A., Phylipsen M., et al. Nine unknown rearrangements in 16p13.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification. J. Med. Genet. 2005, 42:922-931.
    • (2005) J. Med. Genet. , vol.42 , pp. 922-931
    • Harteveld, C.L.1    Voskamp, A.2    Phylipsen, M.3
  • 18
    • 35448929519 scopus 로고    scopus 로고
    • Refinement of the genetic cause of ATR-16
    • Harteveld C.L., Kriek M., Bijlsma E.K., et al. Refinement of the genetic cause of ATR-16. Hum. Genet. 2007, 122:283-292.
    • (2007) Hum. Genet. , vol.122 , pp. 283-292
    • Harteveld, C.L.1    Kriek, M.2    Bijlsma, E.K.3
  • 19
    • 47249109033 scopus 로고    scopus 로고
    • The deletion of SOX8 is not associated with ATR-16 in an HbH family from Brazil
    • Bezerra M.A.C.B., Araujo A.S., Phylipsen M., et al. The deletion of SOX8 is not associated with ATR-16 in an HbH family from Brazil. Br. J. Haematol. 2008, 142:324-326.
    • (2008) Br. J. Haematol. , vol.142 , pp. 324-326
    • Bezerra, M.A.C.B.1    Araujo, A.S.2    Phylipsen, M.3
  • 20
    • 0028128516 scopus 로고
    • Healing of Broken Human Chromosomes by the Addition of Telomeric Repeats
    • Flint J., Craddock C.F., Villegas A., et al. Healing of Broken Human Chromosomes by the Addition of Telomeric Repeats. Am. J. Hum. Genet. 1994, 55:505-512.
    • (1994) Am. J. Hum. Genet. , vol.55 , pp. 505-512
    • Flint, J.1    Craddock, C.F.2    Villegas, A.3
  • 21
    • 0025734604 scopus 로고
    • Characterization of the major regulatory element upstream of the human α-globin gene cluster
    • Jarman A.P., Wood W.G., Sharpe J.A., et al. Characterization of the major regulatory element upstream of the human α-globin gene cluster. Mol. Cell. Biol. 1991, 11:4679-4689.
    • (1991) Mol. Cell. Biol. , vol.11 , pp. 4679-4689
    • Jarman, A.P.1    Wood, W.G.2    Sharpe, J.A.3
  • 22
    • 0028927084 scopus 로고
    • Functional roles of in vivo footprinted DNA motifs within an alpha-globin enhancer
    • Zhang Q., Rombel I., Reddy G.N., et al. Functional roles of in vivo footprinted DNA motifs within an alpha-globin enhancer. J. Biol. Chem. 1995, 270:8501-8505.
    • (1995) J. Biol. Chem. , vol.270 , pp. 8501-8505
    • Zhang, Q.1    Rombel, I.2    Reddy, G.N.3
  • 23
    • 0029048098 scopus 로고
    • Transcriptional activation of human adult alpha-globin genes by hypersensitive site-40 enhancer: function of nuclear factor-binding motifs occupied in erythroid cells
    • Rombel I., Hu K.Y., Zhang Q., et al. Transcriptional activation of human adult alpha-globin genes by hypersensitive site-40 enhancer: function of nuclear factor-binding motifs occupied in erythroid cells. Proc. Natl Acad. Sci. USA 1995, 92:6454-6458.
    • (1995) Proc. Natl Acad. Sci. USA , vol.92 , pp. 6454-6458
    • Rombel, I.1    Hu, K.Y.2    Zhang, Q.3
  • 24
    • 76849099481 scopus 로고    scopus 로고
    • A homozygous deletion of the major alpha globin regulatory element (HS-40) responsible for a severe case of hemoglobin H disease
    • s1
    • Sollaino M.C., Paglietti D., Loi D., et al. A homozygous deletion of the major alpha globin regulatory element (HS-40) responsible for a severe case of hemoglobin H disease. Haematologica 2008, 93(s1):358.
    • (2008) Haematologica , vol.93 , pp. 358
    • Sollaino, M.C.1    Paglietti, D.2    Loi, D.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.