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Volumn 17, Issue 19, 2008, Pages 3084-3093

A large deletion in the human α-globin cluster caused by a replication error is associated with an unexpectedly mild phenotype

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA GLOBIN; DNA; RNA;

EID: 52949115720     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn205     Document Type: Article
Times cited : (24)

References (42)
  • 1
    • 41949095010 scopus 로고    scopus 로고
    • Long-range regulation of alpha globin gene expression during erythropoiesis
    • Higgs, D.R. and Wood, W.G. (2008) Long-range regulation of alpha globin gene expression during erythropoiesis. Curr. Opin. Hematol., 15 176-183.
    • (2008) Curr. Opin. Hematol , vol.15 , pp. 176-183
    • Higgs, D.R.1    Wood, W.G.2
  • 4
    • 0019219843 scopus 로고
    • Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype
    • Embury, S.H., Miller, L.A., Dozy, A.M., Kan, Y.W., Chan, V. and Todd, D. (1980) Two different molecular organizations account for the single alpha-globin gene of the alpha-thalassemia-2 genotype. J. Clin. Invest., 66, 1319-1325.
    • (1980) J. Clin. Invest , vol.66 , pp. 1319-1325
    • Embury, S.H.1    Miller, L.A.2    Dozy, A.M.3    Kan, Y.W.4    Chan, V.5    Todd, D.6
  • 6
    • 0023647951 scopus 로고
    • Recombination at the human alpha-globin gene cluster: Sequence features and topological constraints
    • Nicholls, R.D., Fischel-Ghodsian, N. and Higgs, D.R. (1987) Recombination at the human alpha-globin gene cluster: Sequence features and topological constraints. Cell, 49, 369-378.
    • (1987) Cell , vol.49 , pp. 369-378
    • Nicholls, R.D.1    Fischel-Ghodsian, N.2    Higgs, D.R.3
  • 9
    • 0025007621 scopus 로고
    • A truncated human chromosome 16 associated with alpha thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n
    • Wilkie, A.O., Lamb, J., Harris, P.C., Finney, R.D. and Higgs, D.R. (1990) A truncated human chromosome 16 associated with alpha thalassaemia is stabilized by addition of telomeric repeat (TTAGGG)n. Nature, 346, 868-871.
    • (1990) Nature , vol.346 , pp. 868-871
    • Wilkie, A.O.1    Lamb, J.2    Harris, P.C.3    Finney, R.D.4    Higgs, D.R.5
  • 10
    • 27844470275 scopus 로고    scopus 로고
    • Ham-wasserman lecture: Gene regulation in hematopoiesis: New lessons from thalassernia
    • Higgs, D.R. (2004) Ham-wasserman lecture: Gene regulation in hematopoiesis: New lessons from thalassernia. Hematology, 1-13.
    • (2004) Hematology , pp. 1-13
    • Higgs, D.R.1
  • 12
    • 25444522500 scopus 로고    scopus 로고
    • Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions
    • Chen, J.M., Chuzhanova, N., Stenson, P.D., Fever, C. and Cooper. D.N. (2005) Intrachromosomal serial replication slippage in trans gives rise to diverse genomic rearrangements involving inversions. Hum. Mutation, 26, 362-373.
    • (2005) Hum. Mutation , vol.26 , pp. 362-373
    • Chen, J.M.1    Chuzhanova, N.2    Stenson, P.D.3    Fever, C.4    Cooper, D.N.5
  • 13
    • 37349109667 scopus 로고    scopus 로고
    • A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders
    • Lee, J.A., Carvalho, C.M. and Lupski, J.R. (2007) A DNA replication mechanism for generating nonrecurrent rearrangements associated with genomic disorders. Cell, 131, 1235-1247.
    • (2007) Cell , vol.131 , pp. 1235-1247
    • Lee, J.A.1    Carvalho, C.M.2    Lupski, J.R.3
  • 15
    • 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., Sharpe, J., Lida, J., Pretorius, I.M. and Ayyub, H. (1990) A major positive regulatory region located far upstream of the human alpha-globin gene locus. Genes Dev., 4 1588-1601.
    • (1990) Genes Dev , vol.4 , pp. 1588-1601
    • Higgs, D.R.1    Wood, W.G.2    Jarman, A.P.3    Sharpe, J.4    Lida, J.5    Pretorius, I.M.6    Ayyub, H.7
  • 16
    • 14644406272 scopus 로고    scopus 로고
    • Active chromatin domains are defined by acetylation islands revealed by genome-wide mapping
    • Roh, T.Y., Cuddapah, S. and Zhao, K. (2005) Active chromatin domains are defined by acetylation islands revealed by genome-wide mapping. Genes Dev., 19, 542-552.
    • (2005) Genes Dev , vol.19 , pp. 542-552
    • Roh, T.Y.1    Cuddapah, S.2    Zhao, K.3
  • 18
    • 0037111656 scopus 로고    scopus 로고
    • Deletion of the mouse alpha-globin regulatory element (HS-26) has an unexpectedly mild phenotype
    • Anguita, E., Sharpe, J.A., Sloane-Stanley, J.A., Tufarelli, C., Higgs, D.R. and Wood, W.G. (2002) Deletion of the mouse alpha-globin regulatory element (HS-26) has an unexpectedly mild phenotype. Blood, 100 3450-3456.
    • (2002) Blood , vol.100 , pp. 3450-3456
    • Anguita, E.1    Sharpe, J.A.2    Sloane-Stanley, J.A.3    Tufarelli, C.4    Higgs, D.R.5    Wood, W.G.6
  • 19
  • 20
    • 33646434782 scopus 로고    scopus 로고
    • A novel deletion causing alpha thalassemia clarifies the importance of the major human alpha globin regulgory element
    • Viprakasit, V., Harteveld, C.L., Ayyub, H., Stanley, J.S., Giordano, P.C., Wood, W.G. and Higgs, D.R. (2006) A novel deletion causing alpha thalassemia clarifies the importance of the major human alpha globin regulgory element. Blood, 107, 3811-3812.
    • (2006) Blood , vol.107 , pp. 3811-3812
    • Viprakasit, V.1    Harteveld, C.L.2    Ayyub, H.3    Stanley, J.S.4    Giordano, P.C.5    Wood, W.G.6    Higgs, D.R.7
  • 21
    • 34247272882 scopus 로고    scopus 로고
    • Long-range chromosomal interactions regulate the timing of the transition between poised and active gene expression
    • Vernimmen, D., De Gobbi, M., Sloane-Stanley, J.A., Wood, W.G. and Higgs, D.R. (2007) Long-range chromosomal interactions regulate the timing of the transition between poised and active gene expression. EMBO J., 26, 2041-2051.
    • (2007) EMBO J , vol.26 , pp. 2041-2051
    • Vernimmen, D.1    De Gobbi, M.2    Sloane-Stanley, J.A.3    Wood, W.G.4    Higgs, D.R.5
  • 22
    • 0036923833 scopus 로고    scopus 로고
    • Looping and interaction between hypersensitive sites in the active beta-globin locus
    • Tolhuis, B., Palstra, R.J., Splinter, E., Grosveld, F. and de Laat, W. (2002) Looping and interaction between hypersensitive sites in the active beta-globin locus. Mol. Cell, 10, 1453-1465.
    • (2002) Mol. Cell , vol.10 , pp. 1453-1465
    • Tolhuis, B.1    Palstra, R.J.2    Splinter, E.3    Grosveld, F.4    de Laat, W.5
  • 23
    • 0022357072 scopus 로고
    • Compensatory increase in alpha 1-globin gene expression in individuals heterozygous for the alpha-thalassemia-2 deletion
    • Liebhaber, S.A., Cash, F.E. and Main, D.M. (1985) Compensatory increase in alpha 1-globin gene expression in individuals heterozygous for the alpha-thalassemia-2 deletion. J. Clin. Invest., 76, 1057-1064.
    • (1985) J. Clin. Invest , vol.76 , pp. 1057-1064
    • Liebhaber, S.A.1    Cash, F.E.2    Main, D.M.3
  • 24
    • 22044457291 scopus 로고    scopus 로고
    • Both heterozygous and homozygous alpha+ thalassemias protect against severe and fatal Plasmodium falciparum malaria on the coast of Kenya
    • Williams, T.N., Wambua, S., Uyoga, S., Macharia, A., Mwacharo, J.K., Newton, C.R. and Maitland, K. (2005) Both heterozygous and homozygous alpha+ thalassemias protect against severe and fatal Plasmodium falciparum malaria on the coast of Kenya. Blood, 106, 368-371.
    • (2005) Blood , vol.106 , pp. 368-371
    • Williams, T.N.1    Wambua, S.2    Uyoga, S.3    Macharia, A.4    Mwacharo, J.K.5    Newton, C.R.6    Maitland, K.7
  • 25
    • 0004198466 scopus 로고
    • Weatherall, D.J. and Clegg, J.B, eds, Blackwell Scientific Publications, Oxford, pp
    • Weatherall, D.J. and Clegg, J.B. (1981) Weatherall, D.J. and Clegg, J.B. (eds), The Thalassaemia Syndromes. Blackwell Scientific Publications, Oxford, pp. 744-769.
    • (1981) The Thalassaemia Syndromes , pp. 744-769
    • Weatherall, D.J.1    Clegg, J.B.2
  • 26
    • 0020925780 scopus 로고
    • Selective expression within the human alpha globin gene complex following chromosome-dependent transfer into diploid mouse erythroleukaemia cells
    • Zeitlin, B.C. and Weatherall, D.J. (1983) Selective expression within the human alpha globin gene complex following chromosome-dependent transfer into diploid mouse erythroleukaemia cells. Mol. Biol. Med. 1, 489-500.
    • (1983) Mol. Biol. Med , vol.1 , pp. 489-500
    • Zeitlin, B.C.1    Weatherall, D.J.2
  • 28
    • 29144480573 scopus 로고    scopus 로고
    • Nine unknown rearrangements in 16pl3.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification
    • Harteveld, C.L., Voskamp, A., Phylipsen, M., Akkermans, N., den Dunnen, J.T., White, S.J. and Giordano, P.C. (2005) Nine unknown rearrangements in 16pl3.3 and 11p15.4 causing alpha- and beta-thalassaemia characterised by high resolution multiplex ligation-dependent probe amplification. J. Med. Genet., 42, 922-931.
    • (2005) J. Med. Genet , vol.42 , pp. 922-931
    • Harteveld, C.L.1    Voskamp, A.2    Phylipsen, M.3    Akkermans, N.4    den Dunnen, J.T.5    White, S.J.6    Giordano, P.C.7
  • 29
    • 0020523431 scopus 로고
    • Identification of two distinct regulatory regions adjacent to the human beta-interferon gene
    • Zinn, K., DiMaio, D. and Maniatis, T. (1983) Identification of two distinct regulatory regions adjacent to the human beta-interferon gene. Cell, 34, 865-879.
    • (1983) Cell , vol.34 , pp. 865-879
    • Zinn, K.1    DiMaio, D.2    Maniatis, T.3
  • 30
    • 3543038232 scopus 로고    scopus 로고
    • Globin gene activation during haemopoiesis is driven by protein complexes nucleated by GATA-1 and GATA-2
    • Anguita, E., Hughes, J., Heyworth, C., Blobel, G.A., Wood, W.G. and Higgs, D.R. (2004) Globin gene activation during haemopoiesis is driven by protein complexes nucleated by GATA-1 and GATA-2. EMBO J., 23, 2841-2852.
    • (2004) EMBO J , vol.23 , pp. 2841-2852
    • Anguita, E.1    Hughes, J.2    Heyworth, C.3    Blobel, G.A.4    Wood, W.G.5    Higgs, D.R.6
  • 31
    • 0031924708 scopus 로고    scopus 로고
    • Understanding alpha globin gene expression: A step towards effective gene therapy
    • Higgs, D.R., Sharpe, J.A. and Wood, W.G. (1998) Understanding alpha globin gene expression: A step towards effective gene therapy. Semin. Hematol., 35, 93-104.
    • (1998) Semin. Hematol , vol.35 , pp. 93-104
    • Higgs, D.R.1    Sharpe, J.A.2    Wood, W.G.3
  • 32
    • 0021770859 scopus 로고
    • Independent recombination events between the duplicated human alpha globin genes; implications for their concerted evolution
    • Higgs, D.R., Hill, A.V., Bowden, D.K., Weatherall, D.J. and Clegg, J.B. (1984) Independent recombination events between the duplicated human alpha globin genes; implications for their concerted evolution. Nucleic Acids Res., 12, 6965-6977.
    • (1984) Nucleic Acids Res , vol.12 , pp. 6965-6977
    • Higgs, D.R.1    Hill, A.V.2    Bowden, D.K.3    Weatherall, D.J.4    Clegg, J.B.5
  • 33
    • 0001916646 scopus 로고    scopus 로고
    • Clinical and laboratory features of α-thalassemia syndromes
    • Steinberg, M.H, Forget, B.G, Higgs, D.R. and Nagel, R.L, eds, Cambridge University Press, Cambridge, pp
    • Higgs, D.R. and Bowden, D.K. (2001) Clinical and laboratory features of α-thalassemia syndromes. In Steinberg, M.H., Forget, B.G., Higgs, D.R. and Nagel, R.L. (eds), Disorders of Hemoglobin, Cambridge University Press, Cambridge, pp. 431-460.
    • (2001) Disorders of Hemoglobin , pp. 431-460
    • Higgs, D.R.1    Bowden, D.K.2
  • 36
    • 0024500256 scopus 로고
    • A search for anomalies in the zeta, alpha, beta, and gamma globin gene arrangements in normal black, Italian, Turkish, and Spanish newborns
    • Fei, Y.J., Kutlar, F., Harris, H.F., II, Wilson, M.M., Milana, A., Sciacca, P., Schiliro, G., Masala, B., Manca, L., Altay, C. et al. (1989) A search for anomalies in the zeta, alpha, beta, and gamma globin gene arrangements in normal black, Italian, Turkish, and Spanish newborns. Hemoglobin, 13, 45-65.
    • (1989) Hemoglobin , vol.13 , pp. 45-65
    • Fei, Y.J.1    Kutlar, F.2    Harris II, H.F.3    Wilson, M.M.4    Milana, A.5    Sciacca, P.6    Schiliro, G.7    Masala, B.8    Manca, L.9    Altay, C.10
  • 37
    • 0023840573 scopus 로고
    • The molecular basis of alpha thalassemia in India. Its interaction with the sickle cell gene
    • Kulozik, A.E., Kar, B.C., Serjeant, G.R., Serjeant, B.E. and Weatherall, D.J. (1988) The molecular basis of alpha thalassemia in India. Its interaction with the sickle cell gene. Blood, 71, 467-472.
    • (1988) Blood , vol.71 , pp. 467-472
    • Kulozik, A.E.1    Kar, B.C.2    Serjeant, G.R.3    Serjeant, B.E.4    Weatherall, D.J.5
  • 39
    • 28844484079 scopus 로고    scopus 로고
    • Characterization of a rare single alpha-globin gene deletion in a Chinese woman with Hb H disease
    • Eng, B., Walsh, R., Walker, L., Patterson, M. and Waye, J.S. (2005) Characterization of a rare single alpha-globin gene deletion in a Chinese woman with Hb H disease. Hemoglobin, 29, 297-299.
    • (2005) Hemoglobin , vol.29 , pp. 297-299
    • Eng, B.1    Walsh, R.2    Walker, L.3    Patterson, M.4    Waye, J.S.5
  • 40
    • 33748928244 scopus 로고    scopus 로고
    • A newly identified deletion of 970 bp at the alpha-globin locus that removes the promoter region of the alphal gene
    • Poodt, J., Martens, H.A., Walsh, I.B., Felix-Schollaart, B. and Hermans, M.H. (2006) A newly identified deletion of 970 bp at the alpha-globin locus that removes the promoter region of the alphal gene. Hemoglobin 30, 471-477.
    • (2006) Hemoglobin , vol.30 , pp. 471-477
    • Poodt, J.1    Martens, H.A.2    Walsh, I.B.3    Felix-Schollaart, B.4    Hermans, M.H.5
  • 41
    • 0026042607 scopus 로고
    • A novel alpha-thalassemia-2 (-2.7-kb) observed in a Chinese patient with Rb H disease
    • Zhao, J.B., Zhao, L., Fei, Y.J., Liu, J.C. and Huisman, T.H. (1991) A novel alpha-thalassemia-2 (-2.7-kb) observed in a Chinese patient with Rb H disease. Am. J. Hematol., 38, 248-249.
    • (1991) Am. J. Hematol , vol.38 , pp. 248-249
    • Zhao, J.B.1    Zhao, L.2    Fei, Y.J.3    Liu, J.C.4    Huisman, T.H.5
  • 42
    • 0023848263 scopus 로고
    • Two different theta (χ) globin gene deletions observed among black newborn babies
    • Fei, Y.J., Fujita, S. and Huisman, T.H. (1988) Two different theta (χ) globin gene deletions observed among black newborn babies. Br. J. Haematol., 68, 249-253.
    • (1988) Br. J. Haematol , vol.68 , pp. 249-253
    • Fei, Y.J.1    Fujita, S.2    Huisman, T.H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.