메뉴 건너뛰기




Volumn 3, Issue 1, 2013, Pages

The molecular basis of α-thalassemia

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY RNA; HEMOGLOBIN ALPHA CHAIN;

EID: 84866124484     PISSN: None     EISSN: 21571422     Source Type: Journal    
DOI: 10.1101/cshperspect.a011718     Document Type: Article
Times cited : (123)

References (68)
  • 1
    • 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 GA, Wood WG, Higgs DR. 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
  • 5
    • 76549100511 scopus 로고    scopus 로고
    • Evolution in health and medicine Sackler colloquium: Genomic disorders: A window into human gene and genome evolution
    • Carvalho C.M., Zhang F, Lupski JR. 2010. Evolution in health and medicine Sackler colloquium: Genomic disorders: A window into human gene and genome evolution. Proc Natl Acad Sci 107: 1765-1771.
    • (2010) Proc Natl Acad Sci , vol.107 , pp. 1765-1771
    • Carvalho, C.M.1    Zhang, F.2    Lupski, J.R.3
  • 6
    • 0037305250 scopus 로고    scopus 로고
    • Hemoglobin H disease: Not necessarily a benign disorder
    • Chui D.H., Fucharoen S, Chan V. 2003. Hemoglobin H disease: Not necessarily a benign disorder. Blood 101: 791-800.
    • (2003) Blood , vol.101 , pp. 791-800
    • Chui, D.H.1    Fucharoen, S.2    Chan, V.3
  • 7
    • 77955267950 scopus 로고    scopus 로고
    • Novel large deletions in the human α-globin gene cluster: Clarifying the HS-40 long-range regulatory role in the native chromosome environment
    • Coelho A., Picanco I, Seuanes F, Seixas MT, Faustino P. 2010. Novel large deletions in the human α-globin gene cluster: Clarifying the HS-40 long-range regulatory role in the native chromosome environment. Blood Cells Mol Dis 45: 147-153.
    • (2010) Blood Cells Mol Dis , vol.45 , pp. 147-153
    • Coelho, A.1    Picanco, I.2    Seuanes, F.3    Seixas, M.T.4    Faustino, P.5
  • 8
    • 33645070789 scopus 로고    scopus 로고
    • Quintuple α-globin gene: A novel allele in a Sudanese man
    • Cook R.J., Hoyer JD, Highsmith WE. 2006. Quintuple α-globin gene: A novel allele in a Sudanese man. Hemoglobin 30: 51-55.
    • (2006) Hemoglobin , vol.30 , pp. 51-55
    • Cook, R.J.1    Hoyer, J.D.2    Highsmith, W.E.3
  • 10
    • 74049127353 scopus 로고    scopus 로고
    • dbSNP in the detail and copy number complexities
    • Day IN. 2010. dbSNP in the detail and copy number complexities. Hum Mutat 31: 2-4.
    • (2010) Hum Mutat , vol.31 , pp. 2-4
    • Day, I.N.1
  • 11
    • 0026594127 scopus 로고
    • ααααanti-3.7 type II: A new α-globin gene rearrangement suggesting that the α-globin gene duplication could be caused by intrachromosomal recombination
    • De Angioletti M, Lacerra G, Castaldo C, Cutolo R, de Bonis C., Buonanno G, Carestia C. 1992. ααααanti-3.7 type II: A new α-globin gene rearrangement suggesting that the α-globin gene duplication could be caused by intrachromosomal recombination. Hum Genet 89: 37-41.
    • (1992) Hum Genet , vol.89 , pp. 37-41
    • de Angioletti, M.1    Lacerra, G.2    Castaldo, C.3    Cutolo, R.4    de Bonis, C.5    Buonanno, G.6    Carestia, C.7
  • 14
    • 0019219843 scopus 로고
    • Two different molecular organizations account for the single α-globin gene of the α-thalassemia-2 genotype
    • Embury S.H., Miller JA, Dozy AM, KanYW, Chan V, Todd D. 1980. Two different molecular organizations account for the single α-globin gene of the α-thalassemia-2 genotype. J Clin Invest 66: 1319-1325.
    • (1980) J Clin Invest , vol.66 , pp. 1319-1325
    • Embury, S.H.1    Miller, J.A.2    Dozy, A.M.3    Kan, Y.W.4    Chan, V.5    Todd, D.6
  • 15
    • 78249282090 scopus 로고
    • Triplicated α-globin gene locus with translocation of the whole telomeric end in association with β-thalassemia trait, results in a severe syndrome
    • Fichera M., Rappazzo G, Spalletta A, et al. 1994. Triplicated α-globin gene locus with translocation of the whole telomeric end in association with β-thalassemia trait, results in a severe syndrome. Blood 84: 260a.
    • (1994) Blood , vol.84
    • Fichera, M.1    Rappazzo, G.2    Spalletta, A.3
  • 17
  • 23
    • 0023663887 scopus 로고
    • Position-independent, high-level expression of the human β-globin gene in transgenic mice
    • Grosveld F., van Assendelft GB, Greaves DR, Kollias G. 1987. Position-independent, high-level expression of the human β-globin gene in transgenic mice. Cell 51: 975-985.
    • (1987) Cell , vol.51 , pp. 975-985
    • Grosveld, F.1    van Assendelft, G.B.2    Greaves, D.R.3    Kollias, G.4
  • 25
    • 41949110058 scopus 로고    scopus 로고
    • Segmental duplications involving the α-globin gene cluster are causing β-thalassemia intermedia phenotypes in β-thalassemia heterozygous patients
    • Harteveld C.L., Refaldi C, Cassinerio E, Cappellini MD, Giordano PC. 2008. Segmental duplications involving the α-globin gene cluster are causing β-thalassemia intermedia phenotypes in β-thalassemia heterozygous patients. Blood Cells Mol Dis 40: 312-316.
    • (2008) Blood Cells Mol Dis , vol.40 , pp. 312-316
    • Harteveld, C.L.1    Refaldi, C.2    Cassinerio, E.3    Cappellini, M.D.4    Giordano, P.C.5
  • 27
    • 0021191274 scopus 로고
    • A gradient of sequence divergence in the human adult α-globin duplication units
    • Hess J.F., SchmidCW, Shen CK. 1984. A gradient of sequence divergence in the human adult α-globin duplication units. Science 226: 67-70.
    • (1984) Science , vol.226 , pp. 67-70
    • Hess, J.F.1    Schmid, C.W.2    Shen, C.K.3
  • 28
    • 84932609836 scopus 로고    scopus 로고
    • The molecular basis of α thalassemia
    • In (ed. Steinberg MH, et al.), Cambridge University Press, Cambridge
    • Higgs DR. 2009a. The molecular basis of α thalassemia. In Disorders of hemoglobin (ed. Steinberg MH, et al.), pp. 241-265. Cambridge University Press, Cambridge.
    • (2009) Disorders of hemoglobin , pp. 241-265
    • Higgs, D.R.1
  • 29
    • 84865392873 scopus 로고    scopus 로고
    • The pathophysiology and clinical features of α thalassemia
    • In (ed. Steinberg M.H., et al.), Cambridge University Press, Cambridge
    • Higgs DR. 2009b. The pathophysiology and clinical features of α thalassemia. In Disorders of hemoglobin (ed. Steinberg M.H., et al.), pp. 266-295. Cambridge University Press, Cambridge.
    • (2009) Disorders of hemoglobin , pp. 266-295
    • Higgs, D.R.1
  • 30
    • 41949095010 scopus 로고    scopus 로고
    • Long-range regulation of α globin gene expression during erythropoiesis
    • Higgs D.R., Wood WG. 2008. Long-range regulation of α 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
  • 33
    • 39049083467 scopus 로고    scopus 로고
    • Long-range regulation of α-globin gene expression
    • Higgs D.R., Vernimmen D, Wood B. 2008. Long-range regulation of α-globin gene expression. Adv Genet 61: 143-173.
    • (2008) Adv Genet , vol.61 , pp. 143-173
    • Higgs, D.R.1    Vernimmen, D.2    Wood, B.3
  • 34
    • 0027229390 scopus 로고
    • A new αthalassemia-2 deletion resulting in microcytosis and hypochromia and in vitro chain imbalance in the heterozygote
    • Indrak K., Gu YC, Novotny J, Huisman TH. 1993. A new αthalassemia-2 deletion resulting in microcytosis and hypochromia and in vitro chain imbalance in the heterozygote. Am J Hematol 43: 144-145.
    • (1993) Am J Hematol , vol.43 , pp. 144-145
    • Indrak, K.1    Gu, Y.C.2    Novotny, J.3    Huisman, T.H.4
  • 35
    • 7244245762 scopus 로고    scopus 로고
    • Finishing the euchromatic sequence of the human genome
    • International Human Genome Sequencing Consortium
    • International Human Genome Sequencing Consortium. 2004. Finishing the euchromatic sequence of the human genome. Nature 431: 931-945.
    • (2004) Nature , vol.431 , pp. 931-945
  • 36
    • 0021014396 scopus 로고
    • β-Globin gene inactivation by DNA translocation in γ β-thalassaemia
    • Kioussis D., Vanin E, deLange T, Flavell RA, Grosveld FG. 1983. β-Globin gene inactivation by DNA translocation in γ β-thalassaemia. Nature 306: 662-666.
    • (1983) Nature , vol.306 , pp. 662-666
    • Kioussis, D.1    Vanin, E.2    deLange, T.3    Flavell, R.A.4    Grosveld, F.G.5
  • 37
    • 84857074361 scopus 로고    scopus 로고
    • Molecular biology: RNA discrimination
    • Kowalczyk M.S., Higgs DR, Gingeras TR. 2012a. Molecular biology: RNA discrimination. Nature 482: 310-311.
    • (2012) Nature , vol.482 , pp. 310-311
    • Kowalczyk, M.S.1    Higgs, D.R.2    Gingeras, T.R.3
  • 39
    • 34547395282 scopus 로고    scopus 로고
    • Processes of de novo duplication of human α-globin genes
    • Lam K.W., Jeffreys AJ. 2007. Processes of de novo duplication of human α-globin genes. Proc Natl Acad Sci 104: 10950-10955.
    • (2007) Proc Natl Acad Sci , vol.104 , pp. 10950-10955
    • Lam, K.W.1    Jeffreys, A.J.2
  • 40
    • 0018903047 scopus 로고
    • The chromosomal arrangement of human α-like globin genes: Sequence homology and α-globin gene deletions
    • Lauer J., Shen CK, Maniatis T. 1980. The chromosomal arrangement of human α-like globin genes: Sequence homology and α-globin gene deletions. Cell 20: 119-130.
    • (1980) Cell , vol.20 , pp. 119-130
    • Lauer, J.1    Shen, C.K.2    Maniatis, T.3
  • 41
    • 0025634029 scopus 로고
    • Inactivation of human α-globin gene expression by a de novo deletion located upstream of the α-globin gene cluster
    • Liebhaber S.A., Griese EU, Weiss I, Cash FE, Ayyub H, Higgs D.R., Horst J. 1990. Inactivation of human α-globin gene expression by a de novo deletion located upstream of the α-globin gene cluster. Proc Natl Acad Sci 87: 9431-9435.
    • (1990) Proc Natl Acad Sci , vol.87 , pp. 9431-9435
    • Liebhaber, S.A.1    Griese, E.U.2    Weiss, I.3    Cash, F.E.4    Ayyub, H.5    Higgs, D.R.6    Horst, J.7
  • 43
    • 77649144557 scopus 로고    scopus 로고
    • Repeat instability as the basis for human diseases and as a potential target for therapy
    • Lopez Castel A, Cleary JD, Pearson CE. 2010. Repeat instability as the basis for human diseases and as a potential target for therapy. Nat Rev Mol Cell Biol 11: 165-170.
    • (2010) Nat Rev Mol Cell Biol , vol.11 , pp. 165-170
    • Lopez Castel, A.1    Cleary, J.D.2    Pearson, C.E.3
  • 46
    • 34547664096 scopus 로고    scopus 로고
    • Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes
    • Lupski J.R., Stankiewicz P. 2005. Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet 1: e49.
    • (2005) PLoS Genet , vol.1
    • Lupski, J.R.1    Stankiewicz, P.2
  • 48
    • 0021044736 scopus 로고
    • Boundaries of gene conversion within the duplicated human α-globin genes. Concerted evolution by segmental recombination
    • Michelson A.M., Orkin SH. 1983. Boundaries of gene conversion within the duplicated human α-globin genes. Concerted evolution by segmental recombination. J Biol Chem 258: 15245-15254.
    • (1983) J Biol Chem , vol.258 , pp. 15245-15254
    • Michelson, A.M.1    Orkin, S.H.2
  • 49
    • 77954758157 scopus 로고    scopus 로고
    • Polycomb group protein-mediated repression of transcription
    • Morey L., Helin K. 2010. Polycomb group protein-mediated repression of transcription. Trends Biochem Sci 35: 323-332.
    • (2010) Trends Biochem Sci , vol.35 , pp. 323-332
    • Morey, L.1    Helin, K.2
  • 50
    • 0023647951 scopus 로고
    • Recombination at the human α-globin gene cluster: Sequence features and topological constraints
    • Nicholls R.D., Fischel-Ghodsian N, Higgs DR. 1987. Recombination at the human α-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
  • 51
    • 59649097916 scopus 로고    scopus 로고
    • Joining the loops: β-Globin gene regulation
    • Noordermeer D., de LaatW. 2008. Joining the loops: β-Globin gene regulation. IUBMB Life 60: 824-833.
    • (2008) IUBMB Life , vol.60 , pp. 824-833
    • Noordermeer, D.1    de Laat, W.2
  • 52
    • 0033995606 scopus 로고    scopus 로고
    • The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome
    • Pfeifer D., Poulat F, Holinski-Feder E, Kooy F, Scherer G. 2000. The SOX8 gene is located within 700 kb of the tip of chromosome 16p and is deleted in a patient with ATR-16 syndrome. Genomics 63: 108-116.
    • (2000) Genomics , vol.63 , pp. 108-116
    • Pfeifer, D.1    Poulat, F.2    Holinski-Feder, E.3    Kooy, F.4    Scherer, G.5
  • 54
    • 0035234557 scopus 로고    scopus 로고
    • Genomic imprinting: Parental influence on the genome
    • ReikW, Walter J. 2001. Genomic imprinting: Parental influence on the genome. Nat Rev Genet 2: 21-32.
    • (2001) Nat Rev Genet , vol.2 , pp. 21-32
    • Reik, W.1    Walter, J.2
  • 55
    • 52949115720 scopus 로고    scopus 로고
    • A large deletion in the human α-globin cluster caused by a replication error is associated with an unexpectedly mild phenotype
    • Rugless M.J., Fisher CA, Old JM, Sloane-Stanley J, Ayyub H, Higgs D.R., GarrickD. 2008. A large deletion in the human α-globin cluster caused by a replication error is associated with an unexpectedly mild phenotype. Hum Mol Genet 17: 3084-3093.
    • (2008) Hum Mol Genet , vol.17 , pp. 3084-3093
    • Rugless, M.J.1    Fisher, C.A.2    Old, J.M.3    Sloane-Stanley, J.4    Ayyub, H.5    Higgs, D.R.6    Garrick, D.7
  • 59
    • 0038581890 scopus 로고    scopus 로고
    • Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease
    • Tufarelli C., Stanley JA, Garrick D, Sharpe JA, Ayyub H, Wood W.G., Higgs DR. 2003. Transcription of antisense RNA leading to gene silencing and methylation as a novel cause of human genetic disease. Nat Genet 34: 157-165.
    • (2003) Nat Genet , vol.34 , pp. 157-165
    • Tufarelli, C.1    Stanley, J.A.2    Garrick, D.3    Sharpe, J.A.4    Ayyub, H.5    Wood, W.G.6    Higgs, D.R.7
  • 60
    • 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 JA, WoodWG, Higgs DR. 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
  • 62
    • 0344406182 scopus 로고    scopus 로고
    • De novo deletion within the telomeric region flanking the human α globin locus as a cause of α thalassaemia
    • Viprakasit V., Kidd AM, Ayyub H, Horsley S, Hughes J, Higgs DR. 2003. De novo deletion within the telomeric region flanking the human α globin locus as a cause of α thalassaemia. Br J Haematol 120: 867-875.
    • (2003) Br J Haematol , vol.120 , pp. 867-875
    • Viprakasit, V.1    Kidd, A.M.2    Ayyub, H.3    Horsley, S.4    Hughes, J.5    Higgs, D.R.6
  • 67
    • 67650001851 scopus 로고    scopus 로고
    • Complex human chromosomal and genomic rearrangements
    • Zhang F., Carvalho CM, Lupski JR. 2009. Complex human chromosomal and genomic rearrangements. Trends Genet 25: 298-307.
    • (2009) Trends Genet , vol.25 , pp. 298-307
    • Zhang, F.1    Carvalho, C.M.2    Lupski, J.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.