SEARCH

SEARCH BY CITATION

References

  • Aerbajinai, W., Zhu, J., Kumkhaek, C., Chin, K. & Rodgers, G.P. (2009) SCF induces gamma-globin gene expression by regulating downstream transcription factor COUP-TFII. Blood, 114, 187194.
  • Alter, B.P., Rappeport, J.M., Huisman, T.H., Schroeder, W.A. & Nathan, D.G. (1976) Fetal erythropoiesis following bone marrow transplantation. Blood, 48, 843853.
  • Alter, B.P., Weinberg, R.S., Goldberg, J.D., Jackson, B.T., Piasecki, G.J., Lipton, J.M. & Nathan, D.G. (1983) Evidence for a clonal model for hemoglobin switching. Progress in Clinical and Biological Research, 134, 431442.
  • Armstrong, J.A., Bieker, J.J. & Emerson, B.M. (1998) A SWI/SNF-related chromatin remodeling complex, E-RC1, is required for tissue-specific transcriptional regulation by EKLF in vitro. Cell, 95, 93104.
  • Avram, D., Fields, A., Pretty On Top, K., Nevrivy, D.J., Ishmael, J.E. & Leid, M. (2000) Isolation of a novel family of C(2)H(2) zinc finger proteins implicated in transcriptional repression mediated by chicken ovalbumin upstream promoter transcription factor (COUP-TF) orphan nuclear receptors. Journal of Biological Chemistry, 275, 1031510322.
  • Baglioni, C., Ingram, V.M. & Sullivan, E. (1961) Genetic control of foetal and adult human haemoglobin. Nature, 189, 467469.
  • Bank, A. (2006) Regulation of human fetal hemoglobin: new players, new complexities. Blood, 107, 435443.
  • Bender, M.A., Bulger, M., Close, J. & Groudine, M. (2000) Beta-globin gene switching and DNase I sensitivity of the endogenous beta-globin locus in mice do not require the locus control region. Molecular Cell, 5, 387393.
  • Blobel, G.A. & Orkin, S.H. (1996) Estrogen-induced apoptosis by inhibition of the erythroid transcription factor GATA-1. Molecular and Cellular Biology, 16, 16871694.
  • Bottardi, S., Ross, J., Bourgoin, V., Fotouhi-Ardakani, N., Affar el, B., Trudel, M. & Milot, E. (2009) Ikaros and GATA-1 combinatorial effect is required for silencing of human gamma-globin genes. Molecular and Cellular Biology, 29, 15261537.
  • Boyer, S.H., Belding, T.K., Margolet, L. & Noyes, A.N. (1975) Fetal hemoglobin restriction to a few erythrocytes (F cells) in normal human adults. Science, 188, 361363.
  • Brand, M., Ranish, J.A., Kummer, N.T., Hamilton, J., Igarashi, K., Francastel, C., Chi, T.H., Crabtree, G.R., Aebersold, R. & Groudine, M. (2004) Dynamic changes in transcription factor complexes during erythroid differentiation revealed by quantitative proteomics. Nature Structural & Molecular Biology, 11, 7380.
  • Brown, R.C., Pattison, S., van Ree, J., Coghill, E., Perkins, A., Jane, S.M. & Cunningham, J.M. (2002) Distinct domains of erythroid Kruppel-like factor modulate chromatin remodeling and transactivation at the endogenous beta-globin gene promoter. Molecular and Cellular Biology, 22, 161170.
  • Brownlie, A., Hersey, C., Oates, A.C., Paw, B.H., Falick, A.M., Witkowska, H.E., Flint, J., Higgs, D., Jessen, J., Bahary, N., Zhu, H., Lin, S. & Zon, L. (2003) Characterization of embryonic globin genes of the zebrafish. Developmental Biology, 255, 4861.
  • Bultman, S.J., Gebuhr, T.C. & Magnuson, T. (2005) A Brg1 mutation that uncouples ATPase activity from chromatin remodeling reveals an essential role for SWI/SNF-related complexes in beta-globin expression and erythroid development. Genes and Development, 19, 28492861.
  • Burns, L.J., Glauber, J.G. & Ginder, G.D. (1988) Butyrate induces selective transcriptional activation of a hypomethylated embryonic globin gene in adult erythroid cells. Blood, 72, 15361542.
  • Cantor, A.B. & Orkin, S.H. (2002) Transcriptional regulation of erythropoiesis: an affair involving multiple partners. Oncogene, 21, 33683376.
  • Chada, K., Magram, J. & Costantini, F. (1986) An embryonic pattern of expression of a human fetal globin gene in transgenic mice. Nature, 319, 685689.
  • Chen, X. & Bieker, J.J. (2001) Unanticipated repression function linked to erythroid Kruppel-like factor. Molecular and Cellular Biology, 21, 31183125.
  • Chen, X. & Bieker, J.J. (2004) Stage-specific repression by the EKLF transcriptional activator. Molecular and Cellular Biology, 24, 1041610424.
  • Choi, O.R. & Engel, J.D. (1988) Developmental regulation of beta-globin gene switching. Cell, 55, 1726.
  • Chui, D.H., Wong, S.C., Chung, S.W., Patterson, M., Bhargava, S. & Poon, M.C. (1986) Embryonic zeta-globin chains in adults: a marker for alpha-thalassemia-1 haplotype due to a greater than 17.5-kb deletion. New England Journal of Medicine, 314, 7679.
  • Chui, D.H., Mentzer, W.C., Patterson, M., Iarocci, T.A., Embury, S.H., Perrine, S.P., Mibashan, R.S. & Higgs, D.R. (1989) Human embryonic zeta-globin chains in fetal and newborn blood. Blood, 74, 14091414.
  • Cohen-Barak, O., Erickson, D.T., Badowski, M.S., Fuchs, D.A., Klassen, C.L., Harris, D.T. & Brilliant, M.H. (2007) Stem cell transplantation demonstrates that Sox6 represses epsilon y globin expression in definitive erythropoiesis of adult mice. Experimental Hematology, 35, 358367.
  • Connor, F., Cary, P.D., Read, C.M., Preston, N.S., Driscoll, P.C., Denny, P., Crane-Robinson, C. & Ashworth, A. (1994) DNA binding and bending properties of the post-meiotically expressed Sry-related protein Sox-5. Nucleic Acids Research, 22, 33393346.
  • Connor, F., Wright, E., Denny, P., Koopman, P. & Ashworth, A. (1995) The Sry-related HMG box-containing gene Sox6 is expressed in the adult testis and developing nervous system of the mouse. Nucleic Acids Research, 23, 33653372.
  • Donze, D., Townes, T.M. & Bieker, J.J. (1995) Role of erythroid Kruppel-like factor in human gamma- to beta-globin gene switching. Journal of Biological Chemistry, 270, 19551959.
  • Drissen, R., Palstra, R.J., Gillemans, N., Splinter, E., Grosveld, F., Philipsen, S. & de Laat, W. (2004) The active spatial organization of the beta-globin locus requires the transcription factor EKLF. Genes and Development, 18, 24852490.
  • Dumitriu, B., Dy, P., Smits, P. & Lefebvre, V. (2006) Generation of mice harboring a Sox6 conditional null allele. Genesis, 44, 219224.
  • Evans, T. & Felsenfeld, G. (1989) The erythroid-specific transcription factor Eryf1: a new finger protein. Cell, 58, 877885.
  • Fell, H.P., Smith, R.G. & Tucker, P.W. (1986) Molecular analysis of the t(2;14) translocation of childhood chronic lymphocytic leukemia. Science, 232, 491494.
  • Feng, Q. & Zhang, Y. (2001) The MeCP1 complex represses transcription through preferential binding, remodeling, and deacetylating methylated nucleosomes. Genes and Development, 15, 827832.
  • Ferrari, S., Harley, V.R., Pontiggia, A., Goodfellow, P.N., Lovell-Badge, R. & Bianchi, M.E. (1992) SRY, like HMG1, recognizes sharp angles in DNA. EMBO Journal, 11, 44974506.
  • Filipe, A., Li, Q., Deveaux, S., Godin, I., Romeo, P.H., Stamatoyannopoulos, G. & Mignotte, V. (1999) Regulation of embryonic/fetal globin genes by nuclear hormone receptors: a novel perspective on hemoglobin switching. EMBO Journal, 18, 687697.
  • Forrester, W.C., Thompson, C., Elder, J.T. & Groudine, M. (1986) A developmentally stable chromatin structure in the human beta-globin gene cluster. Proceedings of the National Academy of Sciences of the United States of America, 83, 13591363.
  • Fraser, S.T., Isern, J. & Baron, M.H. (2007) Maturation and enucleation of primitive erythroblasts during mouse embryogenesis is accompanied by changes in cell-surface antigen expression. Blood, 109, 343352.
  • Fritsch, E.F., Lawn, R.M. & Maniatis, T. (1980) Molecular cloning and characterization of the human beta-like globin gene cluster. Cell, 19, 959972.
  • Fujiwara, Y., Browne, C.P., Cunniff, K., Goff, S.C. & Orkin, S.H. (1996) Arrested development of embryonic red cell precursors in mouse embryos lacking transcription factor GATA-1. Proceedings of the National Academy of Sciences of the United States of America, 93, 1235512358.
  • Galanello, R., Sanna, S., Perseu, L., Sollaino, M.C., Satta, S., Lai, M.E., Barella, S., Uda, M., Usala, G., Abecasis, G.R. & Cao, A. (2009) Amelioration of Sardinian beta0 thalassemia by genetic modifiers. Blood, 114, 39353937.
  • Gallarda, J.L., Foley, K.P., Yang, Z.Y. & Engel, J.D. (1989) The beta-globin stage selector element factor is erythroid-specific promoter/enhancer binding protein NF-E4. Genes and Development, 3, 18451859.
  • Gillemans, N., Tewari, R., Lindeboom, F., Rottier, R., de Wit, T., Wijgerde, M., Grosveld, F. & Philipsen, S. (1998) Altered DNA-binding specificity mutants of EKLF and Sp1 show that EKLF is an activator of the beta-globin locus control region in vivo. Genes and Development, 12, 28632873.
  • Ginder, G.D., Whitters, M.J. & Pohlman, J.K. (1984) Activation of a chicken embryonic globin gene in adult erythroid cells by 5-azacytidine and sodium butyrate. Proceedings of the National Academy of Sciences of the United States of America, 81, 39543958.
  • Grosveld, F., van Assendelft, G.B., Greaves, D.R. & Kollias, G. (1987) Position-independent, high-level expression of the human beta-globin gene in transgenic mice. Cell, 51, 975985.
  • Groudine, M., Peretz, M. & Weintraub, H. (1981) Transcriptional regulation of hemoglobin switching in chicken embryos. Molecular and Cellular Biology, 1, 281288.
  • Guy, L.G., Mei, Q., Perkins, A.C., Orkin, S.H. & Wall, L. (1998) Erythroid Kruppel-like factor is essential for beta-globin gene expression even in absence of gene competition, but is not sufficient to induce the switch from gamma-globin to beta-globin gene expression. Blood, 91, 22592263.
  • Hagiwara, N., Klewer, S.E., Samson, R.A., Erickson, D.T., Lyon, M.F. & Brilliant, M.H. (2000) Sox6 is a candidate gene for p100H myopathy, heart block, and sudden neonatal death. Proceedings of the National Academy of Sciences of the United States of America, 97, 41804185.
  • Harju-Baker, S., Costa, F.C., Fedosyuk, H., Neades, R. & Peterson, K.R. (2008) Silencing of Agamma-globin gene expression during adult definitive erythropoiesis mediated by GATA-1-FOG-1-Mi2 complex binding at the -566 GATA site. Molecular and Cellular Biology, 28, 31013113.
  • Higgs, D.R. & Wood, W.G. (2008) Genetic complexity in sickle cell disease. Proceedings of the National Academy of Sciences of the United States of America, 105, 1159511596.
  • Hodge, D., Coghill, E., Keys, J., Maguire, T., Hartmann, B., McDowall, A., Weiss, M., Grimmond, S. & Perkins, A. (2006) A global role for EKLF in definitive and primitive erythropoiesis. Blood, 107, 33593370.
  • Huisman, T.H. (1974) The in vivo production of hemoglobin C in ruminants. Annals of the New York Academy of Sciences, 241, 549555.
  • Im, H., Grass, J.A., Johnson, K.D., Kim, S.I., Boyer, M.E., Imbalzano, A.N., Bieker, J.J. & Bresnick, E.H. (2005) Chromatin domain activation via GATA-1 utilization of a small subset of dispersed GATA motifs within a broad chromosomal region. Proceedings of the National Academy of Sciences of the United States of America, 102, 1706517070.
  • Jane, S.M., Nienhuis, A.W. & Cunningham, J.M. (1995) Hemoglobin switching in man and chicken is mediated by a heteromeric complex between the ubiquitous transcription factor CP2 and a developmentally specific protein. EMBO Journal, 14, 97105.
  • Jiang, J., Best, S., Menzel, S., Silver, N., Lai, M.I., Surdulescu, G.L., Spector, T.D. & Thein, S.L. (2006) cMYB is involved in the regulation of fetal hemoglobin production in adults. Blood, 108, 10771083.
  • Jing, H., Vakoc, C.R., Ying, L., Mandat, S., Wang, H., Zheng, X. & Blobel, G.A. (2008) Exchange of GATA factors mediates transitions in looped chromatin organization at a developmentally regulated gene locus. Molecular Cell, 29, 232242.
  • Johnson, R.M., Buck, S., Chiu, C.H., Gage, D.A., Shen, T.L., Hendrickx, A.G., Gumucio, D.L. & Goodman, M. (2000) Humans and old world monkeys have similar patterns of fetal globin expression. Journal of Experimental Zoology, 288, 318326.
  • Johnson, R.M., Gumucio, D. & Goodman, M. (2002a) Globin gene switching in primates. Comparative Biochemistry and Physiology. Part A, Molecular & Integrative Physiology, 133, 877883.
  • Johnson, K.D., Grass, J.A., Boyer, M.E., Kiekhaefer, C.M., Blobel, G.A., Weiss, M.J. & Bresnick, E.H. (2002b) Cooperative activities of hematopoietic regulators recruit RNA polymerase II to a tissue-specific chromatin domain. Proceedings of the National Academy of Sciences of the United States of America, 99, 1176011765.
  • Kadam, S., McAlpine, G.S., Phelan, M.L., Kingston, R.E., Jones, K.A. & Emerson, B.M. (2000) Functional selectivity of recombinant mammalian SWI/SNF subunits. Genes and Development, 14, 24412451.
  • Keys, J.R., Tallack, M.R., Zhan, Y., Papathanasiou, P., Goodnow, C.C., Gaensler, K.M., Crossley, M., Dekker, J. & Perkins, A.C. (2008) A mechanism for Ikaros regulation of human globin gene switching. British Journal of Haematology, 141, 398406.
  • Kingsley, P.D., Malik, J., Emerson, R.L., Bushnell, T.P., McGrath, K.E., Bloedorn, L.A., Bulger, M. & Palis, J. (2006) “Maturational” globin switching in primary primitive erythroid cells. Blood, 107, 16651672.
  • Leder, P., Hansen, J.N., Konkel, D., Leder, A., Nishioka, Y. & Talkington, C. (1980) Mouse globin system: a functional and evolutionary analysis. Science, 209, 13361342.
  • Lefebvre, V., Li, P. & de Crombrugghe, B. (1998) A new long form of Sox5 (L-Sox5), Sox6 and Sox9 are coexpressed in chondrogenesis and cooperatively activate the type II collagen gene. EMBO Journal, 17, 57185733.
  • Lettre, G., Sankaran, V.G., Bezerra, M.A., Araujo, A.S., Uda, M., Sanna, S., Cao, A., Schlessinger, D., Costa, F.F., Hirschhorn, J.N. & Orkin, S.H. (2008) DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. Proceedings of the National Academy of Sciences of the United States of America, 105, 1186911874.
  • Letvin, N.L., Linch, D.C., Beardsley, G.P., McIntyre, K.W., Miller, B.A. & Nathan, D.G. (1985) Influence of cell cycle phase-specific agents on simian fetal hemoglobin synthesis. Journal of Clinical Investigation, 75, 19992005.
  • Ley, T.J., DeSimone, J., Anagnou, N.P., Keller, G.H., Humphries, R.K., Turner, P.H., Young, N.S., Keller, P. & Nienhuis, A.W. (1982) 5-azacytidine selectively increases gamma-globin synthesis in a patient with beta+ thalassemia. New England Journal of Medicine, 307, 14691475.
  • Ley, T.J., DeSimone, J., Noguchi, C.T., Turner, P.H., Schechter, A.N., Heller, P. & Nienhuis, A.W. (1983) 5-Azacytidine increases gamma-globin synthesis and reduces the proportion of dense cells in patients with sickle cell anemia. Blood, 62, 370380.
  • Ley, T.J., Maloney, K.A., Gordon, J.I. & Schwartz, A.L. (1989) Globin gene expression in erythroid human fetal liver cells. Journal of Clinical Investigation, 83, 10321038.
  • Li, J., Shen, H., Himmel, K.L., Dupuy, A.J., Largaespada, D.A., Nakamura, T., Shaughnessy, Jr, J.D., Jenkins, N.A. & Copeland, N.G. (1999) Leukaemia disease genes: large-scale cloning and pathway predictions. Nature Genetics, 23, 348353.
  • Lieberman-Aiden, E., van Berkum, N.L., Williams, L., Imakaev, M., Ragoczy, T., Telling, A., Amit, I., Lajoie, B.R., Sabo, P.J., Dorschner, M.O., Sandstrom, R., Bernstein, B., Bender, M.A., Groudine, M., Gnirke, A., Stamatoyannopoulos, J., Mirny, L.A., Lander, E.S. & Dekker, J. (2009) Comprehensive mapping of long-range interactions reveals folding principles of the human genome. Science, 326, 289293.
  • Liu, P., Keller, J.R., Ortiz, M., Tessarollo, L., Rachel, R.A., Nakamura, T., Jenkins, N.A. & Copeland, N.G. (2003) Bcl11a is essential for normal lymphoid development. Nature Immunology, 4, 525532.
  • Lopez, R.A., Schoetz, S., DeAngelis, K., O’Neill, D. & Bank, A. (2002) Multiple hematopoietic defects and delayed globin switching in Ikaros null mice. Proceedings of the National Academy of Sciences of the United States of America, 99, 602607.
  • Mahajan, M.C., Narlikar, G.J., Boyapaty, G., Kingston, R.E. & Weissman, S.M. (2005) Heterogeneous nuclear ribonucleoprotein C1/C2, MeCP1, and SWI/SNF form a chromatin remodeling complex at the beta-globin locus control region. Proceedings of the National Academy of Sciences of the United States of America, 102, 1501215017.
  • Martin, D.I., Tsai, S.F. & Orkin, S.H. (1989) Increased gamma-globin expression in a nondeletion HPFH mediated by an erythroid-specific DNA-binding factor. Nature, 338, 435438.
  • McGrath, K. & Palis, J. (2008) Ontogeny of erythropoiesis in the mammalian embryo. Current Topics in Developmental Biology, 82, 122.
  • Menzel, S., Garner, C., Gut, I., Matsuda, F., Yamaguchi, M., Heath, S., Foglio, M., Zelenika, D., Boland, A., Rooks, H., Best, S., Spector, T.D., Farrall, M., Lathrop, M. & Thein, S.L. (2007) A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15. Nature Genetics, 39, 11971199.
  • Michelson, A.M. (2008) Developmental biology. From genetic association to genetic switch. Science, 322, 18031804.
  • Miller, I.J. & Bieker, J.J. (1993) A novel, erythroid cell-specific murine transcription factor that binds to the CACCC element and is related to the Kruppel family of nuclear proteins. Molecular and Cellular Biology, 13, 27762786.
  • Murakami, A., Ishida, S., Thurlow, J., Revest, J.M. & Dickson, C. (2001) SOX6 binds CtBP2 to repress transcription from the Fgf-3 promoter. Nucleic Acids Research, 29, 33473355.
  • Nakamura, T., Yamazaki, Y., Saiki, Y., Moriyama, M., Largaespada, D.A., Jenkins, N.A. & Copeland, N.G. (2000) Evi9 encodes a novel zinc finger protein that physically interacts with BCL6, a known human B-cell proto-oncogene product. Molecular and Cellular Biology, 20, 31783186.
  • Nan, X., Meehan, R.R. & Bird, A. (1993) Dissection of the methyl-CpG binding domain from the chromosomal protein MeCP2. Nucleic Acids Research, 21, 48864892.
  • Narlikar, G.J., Fan, H.Y. & Kingston, R.E. (2002) Cooperation between complexes that regulate chromatin structure and transcription. Cell, 108, 475487.
  • Nienhuis, A.W., Elson, N.A., Barker, J.E. & Anderson, W.F. (1974) Hemoglobin switching in sheep and goats: aspects of the molecular mechanism. Annals of the New York Academy of Sciences, 241, 566581.
  • Noordermeer, D. & de Laat, W. (2008) Joining the loops: beta-globin gene regulation. IUBMB Life, 60, 824833.
  • Nuez, B., Michalovich, D., Bygrave, A., Ploemacher, R. & Grosveld, F. (1995) Defective haematopoiesis in fetal liver resulting from inactivation of the EKLF gene. Nature, 375, 316318.
  • Nuinoon, M., Makarasara, W., Mushiroda, T., Setianingsih, I., Wahidiyat, P.A., Sripichai, O., Kumasaka, N., Takahashi, A., Svasti, S., Munkongdee, T., Mahasirimongkol, S., Peerapittayamongkol, C., Viprakasit, V., Kamatani, N., Winichagoon, P., Kubo, M., Nakamura, Y. & Fucharoen, S. (2009) A genome-wide association identified the common genetic variants influence disease severity in beta(0)-thalassemia/hemoglobin E. Human Genetics, 127, 303314.
  • O’Neill, D., Bornschlegel, K., Flamm, M., Castle, M. & Bank, A. (1991) A DNA-binding factor in adult hematopoietic cells interacts with a pyrimidine-rich domain upstream from the human delta-globin gene. Proceedings of the National Academy of Sciences of the United States of America, 88, 89538957.
  • O’Neill, D., Yang, J., Erdjument-Bromage, H., Bornschlegel, K., Tempst, P. & Bank, A. (1999) Tissue-specific and developmental stage-specific DNA binding by a mammalian SWI/SNF complex associated with human fetal-to-adult globin gene switching. Proceedings of the National Academy of Sciences of the United States of America, 96, 349354.
  • O’Neill, D.W., Schoetz, S.S., Lopez, R.A., Castle, M., Rabinowitz, L., Shor, E., Krawchuk, D., Goll, M.G., Renz, M., Seelig, H.P., Han, S., Seong, R.H., Park, S.D., Agalioti, T., Munshi, N., Thanos, D., Erdjument-Bromage, H., Tempst, P. & Bank, A. (2000) An ikaros-containing chromatin-remodeling complex in adult-type erythroid cells. Molecular and Cellular Biology, 20, 75727582.
  • Orkin, S.H. (1990) Globin gene regulation and switching: circa 1990. Cell, 63, 665672.
  • Orkin, S.H. (1992) GATA-binding transcription factors in hematopoietic cells. Blood, 80, 575581.
  • Orkin, S.H. & Zon, L.I. (2008) Hematopoiesis: an evolving paradigm for stem cell biology. Cell, 132, 631644.
  • Palstra, R.J., Tolhuis, B., Splinter, E., Nijmeijer, R., Grosveld, F. & de Laat, W. (2003) The beta-globin nuclear compartment in development and erythroid differentiation. Nature Genetics, 35, 190194.
  • Papayannopoulou, T., Vichinsky, E. & Stamatoyannopoulos, G. (1980) Fetal Hb production during acute erythroid expansion. I. Observations in patients with transient erythroblastopenia and post-phlebotomy. British Journal of Haematology, 44, 535546.
  • Papayannopoulou, T., Torrealba de Ron, A., Veith, R., Knitter, G. & Stamatoyannopoulos, G. (1984) Arabinosylcytosine induces fetal hemoglobin in baboons by perturbing erythroid cell differentiation kinetics. Science, 224, 617619.
  • Papayannopoulou, T., Brice, M. & Stamatoyannopoulos, G. (1986) Analysis of human hemoglobin switching in MEL x human fetal erythroid cell hybrids. Cell, 46, 469476.
  • Perkins, A.C., Sharpe, A.H. & Orkin, S.H. (1995) Lethal beta-thalassaemia in mice lacking the erythroid CACCC-transcription factor EKLF. Nature, 375, 318322.
  • Perkins, A.C., Gaensler, K.M. & Orkin, S.H. (1996) Silencing of human fetal globin expression is impaired in the absence of the adult beta-globin gene activator protein EKLF. Proceedings of the National Academy of Sciences of the United States of America, 93, 1226712271.
  • Perrine, R.P., Brown, M.J., Clegg, J.B., Weatherall, D.J. & May, A. (1972) Benign sickle-cell anaemia. Lancet, 2, 11631167.
  • Peschle, C., Mavilio, F., Care, A., Migliaccio, G., Migliaccio, A.R., Salvo, G., Samoggia, P., Petti, S., Guerriero, R., Marinucci, M., Lazzaro, D., Russo, G. & Mastroberardino, G. (1985) Haemoglobin switching in human embryos: asynchrony of zeta-alpha and epsilon-gamma-globin switches in primitive and definite erythropoietic lineage. Nature, 313, 235238.
  • Pevny, L., Lin, C.S., D’Agati, V., Simon, M.C., Orkin, S.H. & Costantini, F. (1995) Development of hematopoietic cells lacking transcription factor GATA-1. Development, 121, 163172.
  • Phillips, J.D., Steensma, D.P., Pulsipher, M.A., Spangrude, G.J. & Kushner, J.P. (2007) Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. Blood, 109, 26182621.
  • Platt, O.S. (2008) Hydroxyurea for the treatment of sickle cell anemia. New England Journal of Medicine, 358, 13621369.
  • Platt, O.S., Orkin, S.H., Dover, G., Beardsley, G.P., Miller, B. & Nathan, D.G. (1984) Hydroxyurea enhances fetal hemoglobin production in sickle cell anemia. Journal of Clinical Investigation, 74, 652656.
  • Platt, O.S., Thorington, B.D., Brambilla, D.J., Milner, P.F., Rosse, W.F., Vichinsky, E. & Kinney, T.R. (1991) Pain in sickle cell disease. Rates and risk factors. New England Journal of Medicine, 325, 1116.
  • Platt, O.S., Brambilla, D.J., Rosse, W.F., Milner, P.F., Castro, O., Steinberg, M.H. & Klug, P.P. (1994) Mortality in sickle cell disease. Life expectancy and risk factors for early death. New England Journal of Medicine, 330, 16391644.
  • Premawardhena, A., Fisher, C.A., Olivieri, N.F., de Silva, S., Arambepola, M., Perera, W., O’Donnell, A., Peto, T.E., Viprakasit, V., Merson, L., Muraca, G. & Weatherall, D.J. (2005) Haemoglobin E beta thalassaemia in Sri Lanka. Lancet, 366, 14671470.
  • Rupon, J.W., Wang, S.Z., Gaensler, K., Lloyd, J. & Ginder, G.D. (2006) Methyl binding domain protein 2 mediates gamma-globin gene silencing in adult human betaYAC transgenic mice. Proceedings of the National Academy of Sciences of the United States of America, 103, 66176622.
  • Saha, A., Wittmeyer, J. & Cairns, B.R. (2006) Chromatin remodelling: the industrial revolution of DNA around histones. Nature Reviews. Molecular Cell Biology, 7, 437447.
  • Sankaran, V.G., Orkin, S.H. & Walkley, C.R. (2008a) Rb intrinsically promotes erythropoiesis by coupling cell cycle exit with mitochondrial biogenesis. Genes and Development, 22, 463475.
  • Sankaran, V.G., Menne, T.F., Xu, J., Akie, T.E., Lettre, G., Van Handel, B., Mikkola, H.K., Hirschhorn, J.N., Cantor, A.B. & Orkin, S.H. (2008b) Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A. Science, 322, 18391842.
  • Sankaran, V.G., Xu, J., Ragoczy, T., Ippolito, G.C., Walkley, C.R., Maika, S.D., Fujiwara, Y., Ito, M., Groudine, M., Bender, M.A., Tucker, P.W. & Orkin, S.H. (2009) Developmental and species-divergent globin switching are driven by BCL11A. Nature, 460, 10931097.
  • Schepers, G.E., Teasdale, R.D. & Koopman, P. (2002) Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families. Developmental Cell, 3, 167170.
  • Sedgewick, A.E., Timofeev, N., Sebastiani, P., So, J.C., Ma, E.S., Chan, L.C., Fucharoen, G., Fucharoen, S., Barbosa, C.G., Vardarajan, B.N., Farrer, L.A., Baldwin, C.T., Steinberg, M.H. & Chui, D.H. (2008) BCL11A is a major HbF quantitative trait locus in three different populations with beta-hemoglobinopathies. Blood Cells, Molecules, and Diseases, 41, 255258.
  • de la Serna, I.L., Ohkawa, Y. & Imbalzano, A.N. (2006) Chromatin remodelling in mammalian differentiation: lessons from ATP-dependent remodellers. Nature Reviews. Genetics, 7, 461473.
  • Singal, R., Ferris, R., Little, J.A., Wang, S.Z. & Ginder, G.D. (1997) Methylation of the minimal promoter of an embryonic globin gene silences transcription in primary erythroid cells. Proceedings of the National Academy of Sciences of the United States of America, 94, 1372413729.
  • Singal, R., Wang, S.Z., Sargent, T., Zhu, S.Z. & Ginder, G.D. (2002) Methylation of promoter proximal-transcribed sequences of an embryonic globin gene inhibits transcription in primary erythroid cells and promotes formation of a cell type-specific methyl cytosine binding complex. Journal of Biological Chemistry, 277, 18971905.
  • Singleton, B.K., Fairweather, V.S.S., Lau, W., Parsons, S.F., Burton, N.M., Frayne, J., Brady, R.L. & Anstee, D.J. (2009) A novel EKLF mutation in a patient with dyserythropoietic anemia: the first association of EKLF with disease in man. Blood (ASH Annual Meeting Abstracts), 114, Abstract 162.
  • Smits, P., Li, P., Mandel, J., Zhang, Z., Deng, J.M., Behringer, R.R., de Crombrugghe, B. & Lefebvre, V. (2001) The transcription factors L-Sox5 and Sox6 are essential for cartilage formation. Developmental Cell, 1, 277290.
  • So, C.C., Song, Y.Q., Tsang, S.T., Tang, L.F., Chan, A.Y., Ma, E.S. & Chan, L.C. (2008) The HBS1L-MYB intergenic region on chromosome 6q23 is a quantitative trait locus controlling fetal haemoglobin level in carriers of beta-thalassaemia. Journal of Medical Genetics, 45, 745751.
  • Sripichai, O., Kiefer, C.M., Bhanu, N.V., Tanno, T., Noh, S.J., Goh, S.H., Russell, J.E., Rognerud, C.L., Ou, C.N., Oneal, P.A., Meier, E.R., Gantt, N.M., Byrnes, C., Lee, Y.T., Dean, A. & Miller, J.L. (2009) Cytokine-mediated increases in fetal hemoglobin are associated with globin gene histone modification and transcription factor reprogramming. Blood, 114, 22992306.
  • Stamatoyannopoulos, G. (2005) Control of globin gene expression during development and erythroid differentiation. Experimental Hematology, 33, 259271.
  • Suzuki, T., Shen, H., Akagi, K., Morse, H.C., Malley, J.D., Naiman, D.Q., Jenkins, N.A. & Copeland, N.G. (2002) New genes involved in cancer identified by retroviral tagging. Nature Genetics, 32, 166174.
  • Takamatsu, N., Kanda, H., Tsuchiya, I., Yamada, S., Ito, M., Kabeno, S., Shiba, T. & Yamashita, S. (1995) A gene that is related to SRY and is expressed in the testes encodes a leucine zipper-containing protein. Molecular and Cellular Biology, 15, 37593766.
  • Tanabe, O., Katsuoka, F., Campbell, A.D., Song, W., Yamamoto, M., Tanimoto, K. & Engel, J.D. (2002) An embryonic/fetal beta-type globin gene repressor contains a nuclear receptor TR2/TR4 heterodimer. EMBO Journal, 21, 34343442.
  • Tanabe, O., Shen, Y., Liu, Q., Campbell, A.D., Kuroha, T., Yamamoto, M. & Engel, J.D. (2007) The TR2 and TR4 orphan nuclear receptors repress Gata1 transcription. Genes and Development, 21, 28322844.
  • Tanimoto, K., Liu, Q., Grosveld, F., Bungert, J. & Engel, J.D. (2000) Context-dependent EKLF responsiveness defines the developmental specificity of the human epsilon-globin gene in erythroid cells of YAC transgenic mice. Genes and Development, 14, 27782794.
  • Tewari, R., Gillemans, N., Wijgerde, M., Nuez, B., von Lindern, M., Grosveld, F. & Philipsen, S. (1998) Erythroid Kruppel-like factor (EKLF) is active in primitive and definitive erythroid cells and is required for the function of 5’HS3 of the beta-globin locus control region. EMBO Journal, 17, 23342341.
  • Thein, S.L. & Menzel, S. (2009) Discovering the genetics underlying foetal haemoglobin production in adults. British Journal of Haematology, 145, 455467.
  • Thein, S.L., Menzel, S., Peng, X., Best, S., Jiang, J., Close, J., Silver, N., Gerovasilli, A., Ping, C., Yamaguchi, M., Wahlberg, K., Ulug, P., Spector, T.D., Garner, C., Matsuda, F., Farrall, M. & Lathrop, M. (2007) Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults. Proceedings of the National Academy of Sciences of the United States of America, 104, 1134611351.
  • Thein, S.L., Menzel, S., Lathrop, M. & Garner, C. (2009) Control of fetal hemoglobin: new insights emerging from genomics and clinical implications. Human Molecular Genetics, 18, R216R223.
  • Tolhuis, B., Palstra, R.J., Splinter, E., Grosveld, F. & de Laat, W. (2002) Looping and interaction between hypersensitive sites in the active beta-globin locus. Molecular Cell, 10, 14531465.
  • Trimborn, T., Gribnau, J., Grosveld, F. & Fraser, P. (1999) Mechanisms of developmental control of transcription in the murine alpha- and beta-globin loci. Genes and Development, 13, 112124.
  • Trompeter, S. & Roberts, I. (2009) Haemoglobin F modulation in childhood sickle cell disease. British Journal of Haematology, 144, 308316.
  • Tsai, S.F., Martin, D.I., Zon, L.I., D’Andrea, A.D., Wong, G.G. & Orkin, S.H. (1989) Cloning of cDNA for the major DNA-binding protein of the erythroid lineage through expression in mammalian cells. Nature, 339, 446451.
  • Tuan, D., Solomon, W., Li, Q. & London, I.M. (1985) The “beta-like-globin” gene domain in human erythroid cells. Proceedings of the National Academy of Sciences of the United States of America, 82, 63846388.
  • Uda, M., Galanello, R., Sanna, S., Lettre, G., Sankaran, V.G., Chen, W., Usala, G., Busonero, F., Maschio, A., Albai, G., Piras, M.G., Sestu, N., Lai, S., Dei, M., Mulas, A., Crisponi, L., Naitza, S., Asunis, I., Deiana, M., Nagaraja, R., Perseu, L., Satta, S., Cipollina, M.D., Sollaino, C., Moi, P., Hirschhorn, J.N., Orkin, S.H., Abecasis, G.R., Schlessinger, D. & Cao, A. (2008) Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. Proceedings of the National Academy of Sciences of the United States of America, 105, 16201625.
  • Vakoc, C.R., Letting, D.L., Gheldof, N., Sawado, T., Bender, M.A., Groudine, M., Weiss, M.J., Dekker, J. & Blobel, G.A. (2005) Proximity among distant regulatory elements at the beta-globin locus requires GATA-1 and FOG-1. Molecular Cell, 17, 453462.
  • Wahlberg, K., Jiang, J., Rooks, H., Jawaid, K., Matsuda, F., Yamaguchi, M., Lathrop, M., Thein, S.L. & Best, S. (2009) The HBS1L-MYB intergenic interval associated with elevated HbF levels shows characteristics of a distal regulatory region in erythroid cells. Blood, 114, 12541262.
  • Watson, J. (1948) The significance of the paucity of sickle cells in newborn Negro infants. American Journal of the Medical Sciences, 215, 419423.
  • Weatherall, D.J. (2001) Phenotype-genotype relationships in monogenic disease: lessons from the thalassaemias. Nature Reviews. Genetics, 2, 245255.
  • Weatherall, D.J. & Clegg, J.B. (2001) The Thalassaemia Syndromes. Blackwell Science, Oxford; Malden, MA.
  • Wegner, M. (1999) From head to toes: the multiple facets of Sox proteins. Nucleic Acids Research, 27, 14091420.
  • Weiss, M.J. & Orkin, S.H. (1995) Transcription factor GATA-1 permits survival and maturation of erythroid precursors by preventing apoptosis. Proceedings of the National Academy of Sciences of the United States of America, 92, 96239627.
  • Whitelaw, E., Tsai, S.F., Hogben, P. & Orkin, S.H. (1990) Regulated expression of globin chains and the erythroid transcription factor GATA-1 during erythropoiesis in the developing mouse. Molecular and Cellular Biology, 10, 65966606.
  • Wijgerde, M., Gribnau, J., Trimborn, T., Nuez, B., Philipsen, S., Grosveld, F. & Fraser, P. (1996) The role of EKLF in human beta-globin gene competition. Genes and Development, 10, 28942902.
  • Wood, W.G., Bunch, C., Kelly, S., Gunn, Y. & Breckon, G. (1985) Control of haemoglobin switching by a developmental clock? Nature, 313, 320323.
  • Wozniak, R.J., Keles, S., Lugus, J.J., Young, K.H., Boyer, M.E., Tran, T.M., Choi, K. & Bresnick, E.H. (2008) Molecular hallmarks of endogenous chromatin complexes containing master regulators of hematopoiesis. Molecular and Cellular Biology, 28, 66816694.
  • Yang, Z. & Engel, J.D. (1994) Biochemical characterization of the developmental stage- and tissue-specific erythroid transcription factor, NF-E4. Journal of Biological Chemistry, 269, 1007910087.
  • Yavarian, M., Karimi, M., Bakker, E., Harteveld, C.L. & Giordano, P.C. (2004) Response to hydroxyurea treatment in Iranian transfusion-dependent beta-thalassemia patients. Haematologica, 89, 11721178.
  • Yi, Z., Cohen-Barak, O., Hagiwara, N., Kingsley, P.D., Fuchs, D.A., Erickson, D.T., Epner, E.M., Palis, J. & Brilliant, M.H. (2006) Sox6 directly silences epsilon globin expression in definitive erythropoiesis. PLoS Genetics, 2, e14.
  • Zhang, W., Kadam, S., Emerson, B.M. & Bieker, J.J. (2001) Site-specific acetylation by p300 or CREB binding protein regulates erythroid Kruppel-like factor transcriptional activity via its interaction with the SWI-SNF complex. Molecular and Cellular Biology, 21, 24132422.
  • Zhao, Q., Cumming, H., Cerruti, L., Cunningham, J.M. & Jane, S.M. (2004) Site-specific acetylation of the fetal globin activator NF-E4 prevents its ubiquitination and regulates its interaction with the histone deacetylase, HDAC1. Journal of Biological Chemistry, 279, 4147741486.
  • Zhou, W., Clouston, D.R., Wang, X., Cerruti, L., Cunningham, J.M. & Jane, S.M. (2000) Induction of human fetal globin gene expression by a novel erythroid factor, NF-E4. Molecular and Cellular Biology, 20, 76627672.
  • Zhou, W., Zhao, Q., Sutton, R., Cumming, H., Wang, X., Cerruti, L., Hall, M., Wu, R., Cunningham, J.M. & Jane, S.M. (2004) The role of p22 NF-E4 in human globin gene switching. Journal of Biological Chemistry, 279, 2622726232.
  • Zhou, D., Pawlik, K.M., Ren, J., Sun, C.W. & Townes, T.M. (2006) Differential binding of erythroid Krupple-like factor to embryonic/fetal globin gene promoters during development. Journal of Biological Chemistry, 281, 1605216057.
  • Zipursky, A. (1965) The erythrocytes of the newborn infant. Seminars in Hematology, 36, 167203.