Reawakening fetal hemoglobin: prospects for new therapies for the β-globin disorders
Tóm tắt
Từ khóa
Tài liệu tham khảo
Weatherall, 2010, The inherited diseases of hemoglobin are an emerging global health burden., Blood, 115, 4331, 10.1182/blood-2010-01-251348
Modell, 2008, Global epidemiology of haemoglobin disorders and derived service indicators., Bull World Health Organ, 86, 480, 10.2471/BLT.06.036673
Kauf, 2009, The cost of health care for children and adults with sickle cell disease., Am J Hematol, 84, 323, 10.1002/ajh.21408
World urbanization prospects, the 2011 revision 2012 Accessed May 15, 2012 http://esa.un.org/unup/documentation/highlights.htm
Pauling, 1949, Sickle cell anemia a molecular disease., Science, 110, 543, 10.1126/science.110.2865.543
Weatherall, 2001, Towards molecular medicine; reminiscences of the haemoglobin field, 1960-2000., Br J Haematol, 115, 729, 10.1046/j.1365-2141.2001.03227.x
Stamatoyannopoulos, 2005, Control of globin gene expression during development and erythroid differentiation., Exp Hematol, 33, 259, 10.1016/j.exphem.2004.11.007
Bank, 2006, Regulation of human fetal hemoglobin: New players, new complexities., Blood, 107, 435, 10.1182/blood-2005-05-2113
Sunshine, 1978, Requirement for therapeutic inhibition of sickle haemoglobin gelation., Nature, 275, 238, 10.1038/275238a0
Dover, 1978, Individual variation in the production and survival of F cells in sickle-cell disease., N Engl J Med, 299, 1428, 10.1056/NEJM197812282992603
Andreani, 2011, Quantitatively different red cell/nucleated cell chimerism in patients with long-term, persistent hematopoietic mixed chimerism after bone marrow transplantation for thalassemia major or sickle cell disease., Haematologica, 96, 128, 10.3324/haematol.2010.031013
Platt, 1994, Mortality in sickle cell disease. life expectancy and risk factors for early death., N Engl J Med, 330, 1639, 10.1056/NEJM199406093302303
DeSimone, 1982, 5-azacytidine stimulates fetal hemoglobin synthesis in anemic baboons., Proc Natl Acad Sci U S A, 79, 4428, 10.1073/pnas.79.14.4428
Ley, 1982, 5-azacytidine selectively increases gamma-globin synthesis in a patient with beta+ thalassemia., N Engl J Med, 307, 1469, 10.1056/NEJM198212093072401
Ley, 1984, DNA methylation and regulation of the human beta-globin-like genes in mouse erythroleukemia cells containing human chromosome 11., Proc Natl Acad Sci U S A, 81, 6618, 10.1073/pnas.81.21.6618
Letvin, 1984, Augmentation of fetal-hemoglobin production in anemic monkeys by hydroxyurea., N Engl J Med, 310, 869, 10.1056/NEJM198404053101401
Platt, 1984, Hydroxyurea enhances fetal hemoglobin production in sickle cell anemia., J Clin Invest, 74, 652, 10.1172/JCI111464
Platt, 2008, Hydroxyurea for the treatment of sickle cell anemia., N Engl J Med, 358, 1362, 10.1056/NEJMct0708272
Taher, 2010, Overview on practices in thalassemia intermedia management aiming for lowering complication rates across a region of endemicity: The OPTIMAL CARE study., Blood, 115, 1886, 10.1182/blood-2009-09-243154
Noordermeer, 2008, Joining the loops: beta-globin gene regulation., IUBMB Life, 60, 824, 10.1002/iub.129
Behringer, 1990, Human gamma- to beta-globin gene switching in transgenic mice., Genes Dev, 4, 380, 10.1101/gad.4.3.380
Enver, 1990, Developmental regulation of human fetal-to-adult globin gene switching in transgenic mice., Nature, 344, 309, 10.1038/344309a0
Chakalova, 2005, The corfu deltabeta thalassemia deletion disrupts gamma-globin gene silencing and reveals post-transcriptional regulation of HbF expression., Blood, 105, 2154, 10.1182/blood-2003-11-4069
Sankaran, 2011, A functional element necessary for fetal hemoglobin silencing., N Engl J Med, 365, 807, 10.1056/NEJMoa1103070
Thein, 2007, Intergenic variants of HBS1L-MYB are responsible for a major quantitative trait locus on chromosome 6q23 influencing fetal hemoglobin levels in adults., Proc Natl Acad Sci U S A, 104, 11346, 10.1073/pnas.0611393104
Menzel, 2007, A QTL influencing F cell production maps to a gene encoding a zinc-finger protein on chromosome 2p15., Nat Genet, 39, 1197, 10.1038/ng2108
Uda, 2008, Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia., Proc Natl Acad Sci U S A, 105, 1620, 10.1073/pnas.0711566105
Sedgewick, 2008, BCL11A is a major HbF quantitative trait locus in three different populations with beta-hemoglobinopathies., Blood Cells Mol Dis, 41, 255, 10.1016/j.bcmd.2008.06.007
Lettre, 2008, DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease., Proc Natl Acad Sci U S A, 105, 11869, 10.1073/pnas.0804799105
Nuinoon, 2010, A genome-wide association identified the common genetic variants influence disease severity in beta0-thalassemia/hemoglobin E., Hum Genet, 127, 303, 10.1007/s00439-009-0770-2
Sankaran, 2008, Human fetal hemoglobin expression is regulated by the developmental stage-specific repressor BCL11A., Science, 322, 1839, 10.1126/science.1165409
Sankaran, 2009, Developmental and species-divergent globin switching are driven by BCL11A., Nature, 460, 1093, 10.1038/nature08243
Xu, 2010, Transcriptional silencing of {gamma}-globin by BCL11A involves long-range interactions and cooperation with SOX6., Genes Dev, 24, 783, 10.1101/gad.1897310
Borg, 2010, Haploinsufficiency for the erythroid transcription factor KLF1 causes hereditary persistence of fetal hemoglobin., Nat Genet, 42, 801, 10.1038/ng.630
Siatecka, 2010, Severe anemia in the nan mutant mouse caused by sequence-selective disruption of erythroid kruppel-like factor., Proc Natl Acad Sci U S A, 107, 15151, 10.1073/pnas.1004996107
Perkins, 1995, Lethal beta-thalassaemia in mice lacking the erythroid CACCC-transcription factor EKLF., Nature, 375, 318, 10.1038/375318a0
Nuez, 1995, Defective haematopoiesis in fetal liver resulting from inactivation of the EKLF gene., Nature, 375, 316, 10.1038/375316a0
Guy, 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, 2259, 10.1182/blood.V91.7.2259
Miller, 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., Mol Cell Biol, 13, 2776, 10.1128/MCB.13.5.2776
Feng, 1994, Analyses of beta-thalassemia mutant DNA interactions with erythroid kruppel-like factor (EKLF), an erythroid cell-specific transcription factor., J Biol Chem, 269, 1493, 10.1016/S0021-9258(17)42283-6
Zhou, 2010, KLF1 regulates BCL11A expression and gamma- to beta-globin gene switching., Nat Genet, 42, 742, 10.1038/ng.637
Perkins, 1996, Silencing of human fetal globin expression is impaired in the absence of the adult beta-globin gene activator protein EKLF., Proc Natl Acad Sci U S A, 93, 12267, 10.1073/pnas.93.22.12267
Satta, 2011, Compound heterozygosity for KLF1 mutations associated with remarkable increase of fetal hemoglobin and red cell protoporphyrin., Haematologica, 96, 767, 10.3324/haematol.2010.037333
Singleton, 2008, Mutations in EKLF/KLF1 form the molecular basis of the rare blood group in(lu) phenotype., Blood, 112, 2081, 10.1182/blood-2008-03-145672
Arnaud, 2010, A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia., Am J Hum Genet, 87, 721, 10.1016/j.ajhg.2010.10.010
Perseu, 2011, KLF1 gene mutations cause borderline HbA(2)., Blood, 118, 4454, 10.1182/blood-2011-04-345736
Drissen, 2005, The erythroid phenotype of EKLF-null mice: Defects in hemoglobin metabolism and membrane stability., Mol Cell Biol, 25, 5205, 10.1128/MCB.25.12.5205-5214.2005
Hodge, 2006, A global role for EKLF in definitive and primitive erythropoiesis., Blood, 107, 3359, 10.1182/blood-2005-07-2888
Tallack, 2010, A global role for KLF1 in erythropoiesis revealed by ChIP-seq in primary erythroid cells., Genome Res, 20, 1052, 10.1101/gr.106575.110
Pilon, 2011, Genome-wide ChIP-seq reveals a dramatic shift in the binding of the transcription factor erythroid kruppel-like factor during erythrocyte differentiation., Blood, 118, e139, 10.1182/blood-2011-05-355107
Mucenski, 1991, A functional c-myb gene is required for normal murine fetal hepatic hematopoiesis., Cell, 65, 677, 10.1016/0092-8674(91)90099-K
Jiang, 2006, cMYB is involved in the regulation of fetal hemoglobin production in adults., Blood, 108, 1077, 10.1182/blood-2006-01-008912
Sankaran, 2011, MicroRNA-15a and -16-1 act via MYB to elevate fetal hemoglobin expression in human trisomy 13., Proc Natl Acad Sci U S A, 108, 1519, 10.1073/pnas.1018384108
Bianchi, 2010, c-myb supports erythropoiesis through the transactivation of KLF1 and LMO2 expression., Blood, 116, e99, 10.1182/blood-2009-08-238311
Aerbajinai, 2009, SCF induces gamma-globin gene expression by regulating downstream transcription factor COUP-TFII., Blood, 114, 187, 10.1182/blood-2008-07-170712
van Dijk, 2010, Fetal globin expression is regulated by friend of Prmt1., Blood, 116, 4349, 10.1182/blood-2010-03-274399
Lopez, 2002, Multiple hematopoietic defects and delayed globin switching in ikaros null mice., Proc Natl Acad Sci U S A, 99, 602, 10.1073/pnas.022412699
Rupon, 2006, Methyl binding domain protein 2 mediates gamma-globin gene silencing in adult human betaYAC transgenic mice., Proc Natl Acad Sci U S A, 103, 6617, 10.1073/pnas.0509322103
Zhou, 2004, The role of p22 NF-E4 in human globin gene switching., J Biol Chem, 279, 26227, 10.1074/jbc.M402191200
Macari, 2011, Induction of human fetal hemoglobin via the NRF2 antioxidant response signaling pathway., Blood, 117, 5987, 10.1182/blood-2010-10-314096
Tanabe, 2007, Embryonic and fetal beta-globin gene repression by the orphan nuclear receptors, TR2 and TR4., EMBO J, 26, 2295, 10.1038/sj.emboj.7601676
Forsberg, 2000, Developmentally dynamic histone acetylation pattern of a tissue-specific chromatin domain., Proc Natl Acad Sci U S A, 97, 14494, 10.1073/pnas.97.26.14494
Yin, 2007, Histone acetylation at the human beta-globin locus changes with developmental age., Blood, 110, 4101, 10.1182/blood-2007-05-091256
Perrine, 2010, Fetal globin gene inducers: novel agents and new potential., Ann N Y Acad Sci, 1202, 158, 10.1111/j.1749-6632.2010.05593.x
Cao, 2004, Induction of human gamma globin gene expression by histone deacetylase inhibitors., Blood, 103, 701, 10.1182/blood-2003-02-0478
Bradner, 2010, Chemical genetic strategy identifies histone deacetylase 1 (HDAC1) and HDAC2 as therapeutic targets in sickle cell disease., Proc Natl Acad Sci U S A, 107, 12617, 10.1073/pnas.1006774107
Zhao, 2009, PRMT5-mediated methylation of histone H4R3 recruits DNMT3A, coupling histone and DNA methylation in gene silencing., Nat Struct Mol Biol, 16, 304, 10.1038/nsmb.1568
Rank, 2010, Identification of a PRMT5-dependent repressor complex linked to silencing of human fetal globin gene expression., Blood, 116, 1585, 10.1182/blood-2009-10-251116
van der Ploeg, 1980, DNA methylation in the human gamma delta beta-globin locus in erythroid and nonerythroid tissues., Cell, 19, 947, 10.1016/0092-8674(80)90086-0
Goren, 2006, Fine tuning of globin gene expression by DNA methylation., PLoS One, 1, e46, 10.1371/journal.pone.0000046
Cioe, 1981, Differential expression of the globin genes in human leukemia K562(S) cells induced to differentiate by hemin or butyric acid., Cancer Res, 41, 237
Zein, 2010, Identification of fetal hemoglobin-inducing agents using the human leukemia KU812 cell line., Exp Biol Med (Maywood), 235, 1385, 10.1258/ebm.2010.010129
Ma, 2008, Generation of functional erythrocytes from human embryonic stem cell-derived definitive hematopoiesis., Proc Natl Acad Sci U S A, 105, 13087, 10.1073/pnas.0802220105
Lapillonne, 2010, Red blood cell generation from human induced pluripotent stem cells: Perspectives for transfusion medicine., Haematologica, 95, 1651, 10.3324/haematol.2010.023556
Zou, 2011, Site-specific gene correction of a point mutation in human iPS cells derived from an adult patient with sickle cell disease., Blood, 118, 4599, 10.1182/blood-2011-02-335554
Papapetrou, 2011, Genomic safe harbors permit high beta-globin transgene expression in thalassemia induced pluripotent stem cells., Nat Biotechnol, 29, 73, 10.1038/nbt.1717
Chang, 2010, Globin phenotype of erythroid cells derived from human induced pluripotent stem cells., Blood, 115, 2553, 10.1182/blood-2009-11-252650
Fibach, 1993, The two-step liquid culture: A novel procedure for studying maturation of human normal and pathological erythroid precursors., Stem Cells, 11, 36, 10.1002/stem.5530110608
Giarratana, 2005, Ex vivo generation of fully mature human red blood cells from hematopoietic stem cells., Nat Biotechnol, 23, 69, 10.1038/nbt1047
van den Akker, 2010, The majority of the in vitro erythroid expansion potential resides in CD34(-) cells, outweighing the contribution of CD34(+) cells and significantly increasing the erythroblast yield from peripheral blood samples., Haematologica, 95, 1594, 10.3324/haematol.2009.019828
Giarratana, 2011, Proof of principle for transfusion of in vitro-generated red blood cells., Blood, 118, 5071, 10.1182/blood-2011-06-362038
Li, 2012, Characterization of the transcriptome profiles related to globin gene switching during in vitro erythroid maturation., BMC Genomics, 13, 153, 10.1186/1471-2164-13-153
Sripichai, 2009, Cytokine-mediated increases in fetal hemoglobin are associated with globin gene histone modification and transcription factor reprogramming., Blood, 114, 2299, 10.1182/blood-2009-05-219386
Chan, 2012, Generation of a genomic reporter assay system for analysis of gamma- and beta-globin gene regulation., FASEB J, 26, 1736, 10.1096/fj.11-199356
Blau, 2005, {Gamma}-globin gene expression in chemical inducer of dimerization (CID)-dependent multipotential cells established from human {beta}-globin locus yeast artificial chromosome ({beta}-YAC) transgenic mice., J Biol Chem, 280, 36642, 10.1074/jbc.M504402200
Hardison, 1998, Hemoglobins from bacteria to man: evolution of different patterns of gene expression., J Exp Biol, 201, 1099, 10.1242/jeb.201.8.1099
Peterson, 1993, Transgenic mice containing a 248-kb yeast artificial chromosome carrying the human beta-globin locus display proper developmental control of human globin genes., Proc Natl Acad Sci U S A, 90, 7593, 10.1073/pnas.90.16.7593
Porcu, 1997, The human beta globin locus introduced by YAC transfer exhibits a specific and reproducible pattern of developmental regulation in transgenic mice., Blood, 90, 4602, 10.1182/blood.V90.11.4602
Xu, 2011, Correction of sickle cell disease in adult mice by interference with fetal hemoglobin silencing., Science, 334, 993, 10.1126/science.1211053
Pászty, 1997, Transgenic knockout mice with exclusively human sickle hemoglobin and sickle cell disease., Science, 278, 876, 10.1126/science.278.5339.876
Kingsley, 2006, “Maturational” globin switching in primary primitive erythroid cells., Blood, 107, 1665, 10.1182/blood-2005-08-3097
McGrath, 2011, A transient definitive erythroid lineage with unique regulation of the beta-globin locus in the mammalian embryo., Blood, 117, 4600, 10.1182/blood-2010-12-325357
Chada, 1986, An embryonic pattern of expression of a human fetal globin gene in transgenic mice., Nature, 319, 685, 10.1038/319685a0
Papayannopoulou, 1979, Cellular regulation of hemoglobin switching: Evidence for inverse relationship between fetal hemoglobin synthesis and degree of maturity of human erythroid cells., Proc Natl Acad Sci U S A, 76, 6420, 10.1073/pnas.76.12.6420
Ganis, 2012, Zebrafish globin switching occurs in two developmental stages and is controlled by the LCR., Dev Biol, 366, 185, 10.1016/j.ydbio.2012.03.021
Jing, 2011, Zebrafish as a model for normal and malignant hematopoiesis., Dis Model Mech, 4, 433, 10.1242/dmm.006791
Lavelle, 1986, On the mechanism of hb F elevations in the baboon by erythropoietic stress and pharmacologic manipulation., Blood, 67, 1083, 10.1182/blood.V67.4.1083.1083
Chin, 2009, Transcriptional activation of the gamma-globin gene in baboons treated with decitabine and in cultured erythroid progenitor cells involves different mechanisms., Exp Hematol, 37, 1131, 10.1016/j.exphem.2009.06.007
Papayannopoulou, 1981, Asynchronous synthesis of HbF and HbA during erythroblast maturation. II. studies of G gamma, A gamma, and beta chain synthesis in individual erythroid clones from neonatal and adult BFU-E cultures., Blood, 57, 531, 10.1182/blood.V57.3.531.bloodjournal573531
Perkins, 2000, Fetal expression of a human agamma globin transgene rescues globin chain imbalance but not hemolysis in EKLF null mouse embryos., Blood, 95, 1827, 10.1182/blood.V95.5.1827.004k10_1827_1833
Leid, 2004, CTIP1 and CTIP2 are differentially expressed during mouse embryogenesis., Gene Expr Patterns, 4, 733, 10.1016/j.modgep.2004.03.009
Kuo, 2010, Bcl11A/CTIP1 mediates the effect of the glutamate receptor on axon branching and dendrite outgrowth., J Neurochem, 114, 1381, 10.1111/j.1471-4159.2010.06852.x
John, 2012, Bcl11a is required for neuronal morphogenesis and sensory circuit formation in dorsal spinal cord development., Development, 139, 1831, 10.1242/dev.072850
Zeggini, 2008, Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes., Nat Genet, 40, 638, 10.1038/ng.120
Langberg, 2012, Single nucleotide polymorphisms in JAZF1 and BCL11A gene are nominally associated with type 2 diabetes in african-american families from the GENNID study., J Hum Genet, 57, 57, 10.1038/jhg.2011.133
Koehler, 2010, A complex task? Direct modulation of transcription factors with small molecules., Curr Opin Chem Biol, 14, 331, 10.1016/j.cbpa.2010.03.022
Filippakopoulos, 2010, Selective inhibition of BET bromodomains., Nature, 468, 1067, 10.1038/nature09504
Nicodeme, 2010, Suppression of inflammation by a synthetic histone mimic., Nature, 468, 1119, 10.1038/nature09589
Dawson, 2011, Inhibition of BET recruitment to chromatin as an effective treatment for MLL-fusion leukaemia., Nature, 478, 529, 10.1038/nature10509
Saunthararajah, 2003, Effects of 5-aza-2′-deoxycytidine on fetal hemoglobin levels, red cell adhesion, and hematopoietic differentiation in patients with sickle cell disease., Blood, 102, 3865, 10.1182/blood-2003-05-1738
Olivieri, 2011, A pilot study of subcutaneous decitabine in beta-thalassemia intermedia., Blood, 118, 2708, 10.1182/blood-2011-03-341909
Moutouh-de Parseval, 2008, Pomalidomide and lenalidomide regulate erythropoiesis and fetal hemoglobin production in human CD34+ cells., J Clin Invest, 118, 248, 10.1172/JCI32322
Meiler, 2011, Pomalidomide augments fetal hemoglobin production without the myelosuppressive effects of hydroxyurea in transgenic sickle cell mice., Blood, 118, 1109, 10.1182/blood-2010-11-319137
Ito, 2010, Identification of a primary target of thalidomide teratogenicity., Science, 327, 1345, 10.1126/science.1177319
Moellering, 2009, Direct inhibition of the NOTCH transcription factor complex., Nature, 462, 182, 10.1038/nature08543
Lanford, 2010, Therapeutic silencing of microRNA-122 in primates with chronic hepatitis C virus infection., Science, 327, 198, 10.1126/science.1178178
Wilber, 2011, Therapeutic levels of fetal hemoglobin in erythroid progeny of beta-thalassemic CD34+ cells after lentiviral vector-mediated gene transfer., Blood, 117, 2817, 10.1182/blood-2010-08-300723
