HBB

Summary

Gene Symbol: HBB
Description: hemoglobin, beta
Alias: CD113t-C, beta-globin, beta globin chain, hemoglobin beta chain, hemoglobin subunit beta
Species: human

Top Publications

  1. ncbi Influence of Ggamma-158C --> and beta- (AT)x(T)y globin gene polymorphisms on HbF levels in Italian beta-thalassemia carriers and wild-type subjects
    Valentina Guida
    Haematologica 91:1275-6. 2006
  2. pmc Neurons express hemoglobin alpha- and beta-chains in rat and human brains
    Franziska Richter
    Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California 90095, USA
    J Comp Neurol 515:538-47. 2009
  3. ncbi Structure of human oxyhaemoglobin at 2.1 A resolution
    B Shaanan
    J Mol Biol 171:31-59. 1983
  4. ncbi The crystal structure of human deoxyhaemoglobin at 1.74 A resolution
    G Fermi
    J Mol Biol 175:159-74. 1984
  5. ncbi The frequency of the sickle allele in Jamaica has not declined over the last 22 years
    N A Hanchard
    Tropical Metabolism Research Unit, Tropical Medicine Research Institute, University of West Indies, Kingston, Jamaica
    Br J Haematol 130:939-42. 2005
  6. ncbi Beta-thalassemia intermedia from southern Iran: IVS-II-1 (G-->A) is the prevalent thalassemia intermedia allele
    Mehran Karimi
    Department of Pediatrics, Nemazee Hospital, Shiraz, Iran
    Hemoglobin 26:147-54. 2002
  7. ncbi Abnormal display of PfEMP-1 on erythrocytes carrying haemoglobin C may protect against malaria
    Rick M Fairhurst
    Laboratory of Malaria and Vector Research, Research Technologies Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Nature 435:1117-21. 2005
  8. ncbi Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon
    J Lykke-Andersen
    Department of Molecular Biophysics and Biochemistry, Howard Hughes Medical Institute, Yale University School of Medicine, 295 Congress Avenue, New Haven, CT 06536, USA
    Cell 103:1121-31. 2000
  9. ncbi Common 5' beta-globin RFLP haplotypes harbour a surprising level of ancestral sequence mosaicism
    Matthew T Webster
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Headington, Oxford, OX3 9DS, UK
    Hum Genet 113:123-39. 2003
  10. pmc The role of transcriptional activator GATA-1 at human beta-globin HS2
    Youngran Cho
    Department of Molecular Biology, College of Natural Sciences, Pusan National University, Pusan 609 735, Korea
    Nucleic Acids Res 36:4521-8. 2008

Detail Information

Publications202 found, 100 shown here

  1. ncbi Influence of Ggamma-158C --> and beta- (AT)x(T)y globin gene polymorphisms on HbF levels in Italian beta-thalassemia carriers and wild-type subjects
    Valentina Guida
    Haematologica 91:1275-6. 2006
    ..The -158GgammaT and the (AT)9(T)5alleles were found to be associated with increased levels of HbF in beta-thal carriers, but not in wild-type subjects...
  2. pmc Neurons express hemoglobin alpha- and beta-chains in rat and human brains
    Franziska Richter
    Department of Neurology, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California 90095, USA
    J Comp Neurol 515:538-47. 2009
    ..and striatal neurons in mice revealed the presence of hemoglobin alpha, adult chain 2 (Hba-a2) and hemoglobin beta (Hbb) transcripts, whereas other erythroid markers were not detected...
  3. ncbi Structure of human oxyhaemoglobin at 2.1 A resolution
    B Shaanan
    J Mol Biol 171:31-59. 1983
    ....
  4. ncbi The crystal structure of human deoxyhaemoglobin at 1.74 A resolution
    G Fermi
    J Mol Biol 175:159-74. 1984
    ..The independence of these parameters from restraints imposed on the model was verified by unrestrained refinement of the entire molecule starting from a structure with modified haem geometry...
  5. ncbi The frequency of the sickle allele in Jamaica has not declined over the last 22 years
    N A Hanchard
    Tropical Metabolism Research Unit, Tropical Medicine Research Institute, University of West Indies, Kingston, Jamaica
    Br J Haematol 130:939-42. 2005
    ..Refining the expectations for allele and trait frequency change for Jamaica and other similar populations is an area for future study...
  6. ncbi Beta-thalassemia intermedia from southern Iran: IVS-II-1 (G-->A) is the prevalent thalassemia intermedia allele
    Mehran Karimi
    Department of Pediatrics, Nemazee Hospital, Shiraz, Iran
    Hemoglobin 26:147-54. 2002
    ..We also intend to verify the effect of alpha-thalassemia in the genotype/phenotype correlation of beta-thalassemia intermedia...
  7. ncbi Abnormal display of PfEMP-1 on erythrocytes carrying haemoglobin C may protect against malaria
    Rick M Fairhurst
    Laboratory of Malaria and Vector Research, Research Technologies Branch, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Nature 435:1117-21. 2005
    ..Haemoglobin C might protect against malaria by reducing PfEMP-1-mediated adherence of parasitized erythrocytes, thereby mitigating the effects of their sequestration in the microvasculature...
  8. ncbi Human Upf proteins target an mRNA for nonsense-mediated decay when bound downstream of a termination codon
    J Lykke-Andersen
    Department of Molecular Biophysics and Biochemistry, Howard Hughes Medical Institute, Yale University School of Medicine, 295 Congress Avenue, New Haven, CT 06536, USA
    Cell 103:1121-31. 2000
    ..These data suggest that assembly of a dynamic hUpf complex initiates in the nucleus at mRNA exon-exon junctions and triggers NMD in the cytoplasm when recognized downstream of a translation termination site...
  9. ncbi Common 5' beta-globin RFLP haplotypes harbour a surprising level of ancestral sequence mosaicism
    Matthew T Webster
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, University of Oxford, Headington, Oxford, OX3 9DS, UK
    Hum Genet 113:123-39. 2003
    ....
  10. pmc The role of transcriptional activator GATA-1 at human beta-globin HS2
    Youngran Cho
    Department of Molecular Biology, College of Natural Sciences, Pusan National University, Pusan 609 735, Korea
    Nucleic Acids Res 36:4521-8. 2008
    ....
  11. ncbi A third quaternary structure of human hemoglobin A at 1.7-A resolution
    M M Silva
    Department of Biochemistry, University of Iowa, Iowa City 52242
    J Biol Chem 267:17248-56. 1992
    ....
  12. ncbi Hemoglobin variants and disease manifestations in severe falciparum malaria
    Jurgen May
    Bernhard Nocht Institute for Tropical Medicine, Hamburg, Germany
    JAMA 297:2220-6. 2007
    ....
  13. ncbi Erythroid-specific expression of beta-globin by the sleeping beauty transposon for Sickle cell disease
    Jianhui Zhu
    Department of Medicine, University of Minnesota Medical School, Minneapolis, Minnesota 55455, USA
    Biochemistry 46:6844-58. 2007
    ..The SB-Tn system is a promising nonviral vector for efficient genomic insertion conferring stable, persistent erythroid-specific expression of beta-globin...
  14. pmc Molecular and population genetic analysis of allelic sequence diversity at the human beta-globin locus
    S M Fullerton
    Medical Research Council Molecular Haematology Unit, University of Oxford, John Radcliffe Hospital, Headington, United Kingdom
    Proc Natl Acad Sci U S A 91:1805-9. 1994
    ..Nucleotide diversity at synonymous sites in the sample is 0.14%, suggesting an average age of sequence divergence of approximately 450,000 years, consistent with that expected for a neutrally evolving human nuclear locus...
  15. pmc Initiation of DNA replication at the human beta-globin 3' enhancer
    Alla Buzina
    Developmental Biology Program, Hospital for Sick Children Toronto, Ontario, Canada
    Nucleic Acids Res 33:4412-24. 2005
    ..We conclude that a mammalian enhancer can cooperate with adjacent sequences to create an efficient replicator module...
  16. doi Molecular, hematological and clinical aspects of thalassemia major and thalassemia intermedia associated with Hb E-beta-thalassemia in Northeast Thailand
    Lalana Nuntakarn
    Graduate School, Khon Kaen University, Khon Kaen 40002, Thailand
    Blood Cells Mol Dis 42:32-5. 2009
    ..Our data reveals that in the majority of these Hb E-beta-thalassemia patients, it is very hard to predict the clinical phenotype of the patients from the beta-globin mutations and these secondary genetic modifiers...
  17. ncbi Protective effects of the sickle cell gene against malaria morbidity and mortality
    Michael Aidoo
    Lancet 359:1311-2. 2002
    ..These data are important in understanding the role of malaria in the selection and maintenance of the sickle cell gene...
  18. doi Identification of a novel frameshift mutation at codon 53 (-T) in the beta-globin gene causing dominantly inherited beta-thalassemia in a Chinese Miao family
    Peng Yi
    Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou 510515, Guangdong Province, People s Republic of China
    Blood Cells Mol Dis 41:56-9. 2008
    ..Thus, a novel frameshift cd53 (-T) mutation may lead to mild thalassemia intermedia even though there is no statistically significant difference in beta-globin messenger RNA (mRNA) level between six heterozygotes and six normal subjects...
  19. pmc Coregulated human globin genes are frequently in spatial proximity when active
    Jill M Brown
    MRC Molecular Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford OX3 9DS, England, UK
    J Cell Biol 172:177-87. 2006
    ....
  20. pmc A nucleolin-binding 3' untranslated region element stabilizes beta-globin mRNA in vivo
    Yong Jiang
    Department of Medicine Hematology Oncology, Abramson University of Pennsylvania School of Medicine and The Children s Hospital of Philadelphia, Philadelphia, PA 19104, USA
    Mol Cell Biol 26:2419-29. 2006
    The normal expression of human beta globin is critically dependent upon the constitutively high stability of its encoding mRNA...
  21. ncbi Molecular genetic confirmatory testing from newborn screening samples for the common African-American, Asian Indian, Southeast Asian, and Chinese beta-thalassemia mutations
    Urvashi Bhardwaj
    Department of Pediatrics, David Geffen School of Medicine at UCLA and Mattel Children s Hospital at UCLA, Los Angeles, California 90095 1752, USA
    Am J Hematol 78:249-55. 2005
    ..Multiplexed ARMS for ethnic-specific beta-thalassemia mutations from the original newborn screening dried blood specimens is a rapid and efficient approach for diagnostic confirmation...
  22. ncbi Human 5' --> 3' exonuclease Xrn2 promotes transcription termination at co-transcriptional cleavage sites
    Steven West
    Sir William Dunn School of Pathology, University of Oxford, South Parks Road, Oxford OX1 3RE, UK
    Nature 432:522-5. 2004
    ..Degradation of the downstream cleavage product by Xrn2 results in transcriptional termination, as envisaged in the torpedo model...
  23. pmc Nuclear matrix association of the human beta-globin locus utilizing a novel approach to quantitative real-time PCR
    G Charles Ostermeier
    Department of Obstetrics and Gynecology, Center for Molecular Medicine and Genetics, Wayne State University, Detroit, MI, USA
    Nucleic Acids Res 31:3257-66. 2003
    ..These results provide the first evidence that nuclear matrix association dynamically mediates the looping of the beta-globin locus to achieve transcriptional control...
  24. pmc HS5 of the human beta-globin locus control region: a developmental stage-specific border in erythroid cells
    Albert W K Wai
    Department of Cell Biology, Erasmus MC, PO Box 1738, 3000 DR Rotterdam, The Netherlands
    EMBO J 22:4489-500. 2003
    ..Surprisingly, HS5 functions as an enhancer blocker in embryonic erythroid cells. We conclude that HS5 is a developmental stage-specific border in erythroid cells...
  25. ncbi Rapid detection of beta-globin gene (HBB) mutations coupling heteroduplex and primer-extension analysis by DHPLC
    Yi Ning Su
    Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan
    Hum Mutat 22:326-36. 2003
    ..disease, resulting from one or more of a total of more than 200 different mutations in the beta-globin gene (HBB)...
  26. pmc Hairpin-duplex equilibrium reflected in the A-->B transition in an undecamer quasi-palindrome present in the locus control region of the human beta-globin gene cluster
    Mahima Kaushik
    Department of Chemistry, University of Delhi North Campus, Delhi 110007, India
    Nucleic Acids Res 31:6904-15. 2003
    ..We propose that quasi-palindromic sequences may form stable mini- hairpins or cruciforms in the HS4 region and might play a role in regulating beta-globin gene expression by affecting the binding of transcription factors...
  27. pmc Human beta-globin locus control region HS5 contains CTCF- and developmental stage-dependent enhancer-blocking activity in erythroid cells
    Keiji Tanimoto
    Center for Tsukuba Advanced Research Alliance, University of Tsukuba, Tennoudai 1 1 1, Tsukuba, Ibaraki 305 8577, Japan
    Mol Cell Biol 23:8946-52. 2003
    ..These observations demonstrate that the phenotype observed in the LCR-inverted locus was in part attributable to placing the HS5 insulator between the LCR HS enhancers (HS1 to HS4) and the promoter of the beta-globin gene...
  28. pmc Conserved CTCF insulator elements flank the mouse and human beta-globin loci
    Catherine M Farrell
    Laboratory of Molecular Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Mol Cell Biol 22:3820-31. 2002
    ....
  29. pmc Multiple interactions between regulatory regions are required to stabilize an active chromatin hub
    George P Patrinos
    Erasmus University Medical Center, Faculty of Medicine and Health Sciences, MGC Department of Cell Biology and Genetics, Rotterdam, 3000 DR, The Netherlands
    Genes Dev 18:1495-509. 2004
    ..We conclude that multiple interactions between the LCR and the beta-globin gene are required to maintain the appropriate spatial configuration in vivo...
  30. pmc Evidence that DNase I hypersensitive site 5 of the human beta-globin locus control region functions as a chromosomal insulator in transgenic mice
    Qiliang Li
    Division of Medical Genetics, Box 357720, Department of Medicine, University of Washington Medical School, Seattle, WA 98195, USA
    Nucleic Acids Res 30:2484-91. 2002
    ..The 5'HS5 insulator operates in adult as well as in embryonic murine erythroid cells. The insulator has no significant stimulatory effects of its own. These results indicate that 5'HS5 can function as a chromatin insulator in vivo...
  31. ncbi Frequencies of sickle cell trait and glucose-6-phosphate dehydrogenase deficiency differ in highland and nearby lowland malaria-endemic areas of Kenya
    A M Moormann
    Center for Global Health and Diseases, Case Western Reserve University, Cleveland, Ohio 44106 4983, USA
    Trans R Soc Trop Med Hyg 97:513-4. 2003
    ..Lack of protective polymorphisms may contribute to morbidity and mortality during outbreaks of malaria in the highlands...
  32. pmc Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia
    Manuela Uda
    Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, Cittadella Universitaria di Monserrato, Monserrato, Cagliari, Italy
    Proc Natl Acad Sci U S A 105:1620-5. 2008
    ..We expect our findings will help to characterize the molecular mechanisms of fetal globin regulation and could eventually contribute to the development of new therapeutic approaches for beta-thalassemia and sickle cell anemia...
  33. pmc Expression of GATA-1 in a non-hematopoietic cell line induces beta-globin locus control region chromatin structure remodeling and an erythroid pattern of gene expression
    Michael E Layon
    Department of Pharmacology and Toxicology, Dartmouth Medical School, Hanover, NH 03756, USA
    J Mol Biol 366:737-44. 2007
    ..These results imply that GATA-1 is sufficient to direct chromatin structure reorganization within the beta-globin LCR and an erythroid pattern of gene expression in the absence of other hematopoietic transcription factors...
  34. pmc Distinctive signatures of histone methylation in transcribed coding and noncoding human beta-globin sequences
    AeRi Kim
    Department of Molecular Biology, College of Natural Sciences, Pusan National University, Pusan 609 735, South Korea
    Mol Cell Biol 27:1271-9. 2007
    ..Most epigenetic and chromatin structural features did not undergo transitions at the presumed borders of the globin domain where the insulator factor CTCF interacts, raising questions about the function of the borders...
  35. ncbi Linkage of beta-thalassaemia mutations and beta-globin gene polymorphisms with DNA polymorphisms in human beta-globin gene cluster
    S H Orkin
    Nature 296:627-31. 1982
  36. ncbi Increased gamma-globin gene expression in beta-thalassemia intermedia patients correlates with a mutation in 3'HS1
    Adamantia Papachatzopoulou
    Department of General Biology, School of Medicine, University of Patras, Patras, Greece
    Am J Hematol 82:1005-9. 2007
    ..We conclude that the CH haplotypes are useful genetic determinants for beta-thalassemia major and intermedia patients, while the 3'HS1 (+179 C>T) mutation may have functional consequences in gamma-globin genes expression...
  37. ncbi 3' non-coding region sequences in eukaryotic messenger RNA
    N J Proudfoot
    Nature 263:211-4. 1976
    ..In addition, a large selection of the 3' non-coding regions of rabbit and human globulin mRNAs (both the alpha and beta globin mRNAs) are 85% homologous, demonstrating that this region is significantly conserved in evolution.
  38. ncbi Beta-globin gene cluster polymorphisms are strongly associated with severity of HbE/beta(0)-thalassemia
    Q Ma
    Department of Medicine Genetics Program, Boston University School of Medicine, Boston, MA 02118, USA
    Clin Genet 72:497-505. 2007
    ..Further studies are needed to validate this hypothesis and determine whether XmnI or another closely linked variant modulates severity and HbF levels in patients with beta(0)-thalassemia/HbE disease...
  39. pmc The beta -globin recombinational hotspot reduces the effects of strong selection around HbC, a recently arisen mutation providing resistance to malaria
    Elizabeth T Wood
    Division of Biotechnology, University of Arizona, Tucson, AZ 85721, USA
    Am J Hum Genet 77:637-42. 2005
    ..The rapid decay in LD upstream of the HbC allele demonstrates the large effect the ss-globin hotspot has in mitigating the effects of positive selection on linked variation...
  40. ncbi Definition of transcriptional promoters in the human beta globin locus control region
    S J E Routledge
    Sir William Dunn School of Pathology, South Parks Road, University of Oxford, Oxford, UK
    J Mol Biol 323:601-11. 2002
    Our previous studies on the human beta globin gene cluster revealed the presence of intergenic transcripts throughout the locus, and demonstrated that transcription of the locus control region (LCR) initiates within an ERV9 endogenous ..
  41. pmc Seasonal childhood anaemia in West Africa is associated with the haptoglobin 2-2 genotype
    Sarah H Atkinson
    Medical Research Council Laboratories, Banjul, The Gambia
    PLoS Med 3:e172. 2006
    ..Previous studies examined the importance of haptoglobin polymorphism in malaria and iron homeostasis, but it is unknown whether haptoglobin genotype might be a risk factor for anaemia in children in a malaria-endemic area...
  42. pmc Cooperativeness of the higher chromatin structure of the beta-globin locus revealed by the deletion mutations of DNase I hypersensitive site 3 of the LCR
    Xiangdong Fang
    Division of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA
    J Mol Biol 365:31-7. 2007
    ..Taken together, these results suggest that the formation of the ACH is dependent on a largely intact LCR structure. We propose that the ACH indeed is an extension of the LCR holocomplex...
  43. pmc Molecular analysis of the beta-globin gene cluster in the Niokholo Mandenka population reveals a recent origin of the beta(S) Senegal mutation
    Mathias Currat
    Genetics and Biometry Laboratory, Department of Anthropology and Ecology, University of Geneva, Geneva, Switzerland
    Am J Hum Genet 70:207-23. 2002
    ....
  44. pmc The human beta-globin replication initiation region consists of two modular independent replicators
    Lixin Wang
    Laboratory of Molecular Pharmacology, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland, USA
    Mol Cell Biol 24:3373-86. 2004
    ....
  45. pmc Beta -Globin mRNA decay in erythroid cells: UG site-preferred endonucleolytic cleavage that is augmented by a premature termination codon
    Audrey Stevens
    Life Sciences Division, Oak Ridge National Laboratory, Oak Ridge, TN 37831, USA
    Proc Natl Acad Sci U S A 99:12741-6. 2002
    ..These data suggest that an endonuclease with preference for UG dinucleotides is involved in the degradation of nonsense-containing and, to a lesser extent, nonsense-free human beta-globin mRNAs in mouse erythroid cells...
  46. ncbi Nonsense and frameshift mutations in beta 0-thalassemia detected in cloned beta-globin genes
    S H Orkin
    J Biol Chem 256:9782-4. 1981
    ..This frameshift mutation produced a termination codon at the position of the new 21st codon. Mutations that lead to premature termination of beta-globin synthesis appear to be among the common causes of beta 0-thalassemia in man...
  47. ncbi The multiple functions of hemoglobin
    B Giardina
    Istituto di Chimica e Chimica Clinica, Facolta di Medicina e Chirurgia, Universita Cattolica, Roma, Italy
    Crit Rev Biochem Mol Biol 30:165-96. 1995
    ....
  48. ncbi Rapid detection of beta-globin gene mutations and polymorphisms by temporal temperature gradient gel electrophoresis
    Ramachandran V Shaji
    Department of Haematology, Christian Medical College, Vellore 632004, India
    Clin Chem 49:777-81. 2003
    ..Prevention programs based on molecular diagnosis of heterozygous carriers and/or patients require the use of reliable mutation scanning methods in at-risk populations...
  49. pmc A human globin enhancer causes both discrete and widespread alterations in chromatin structure
    AeRi Kim
    Laboratory of Cellular and Developmental Biology, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Building 50, 50 South Drive, MSC 8028, Bethesda, MD 20892, USA
    Mol Cell Biol 23:8099-109. 2003
    ....
  50. pmc Nucleosome and transcription activator antagonism at human beta-globin locus control region DNase I hypersensitive sites
    AeRi Kim
    Department of Molecular Biology, College of Natural Sciences, Pusan National University, Pusan 609 735, Korea
    Nucleic Acids Res 35:5831-8. 2007
    ..Our results indicate that each hypersensitive site in the human beta-globin LCR has distinct structural features and suggest that HS2 plays a pivotal role in LCR organization at embryonic and fetal stages of globin gene expression...
  51. pmc Dicer-dependent turnover of intergenic transcripts from the human beta-globin gene cluster
    Dirk Haussecker
    Sir William Dunn School of Pathology, South Parks Road, Oxford OX1 3RE, United Kingdom
    Mol Cell Biol 25:9724-33. 2005
    ....
  52. ncbi The degree of phenotypic correction of murine beta -thalassemia intermedia following lentiviral-mediated transfer of a human gamma-globin gene is influenced by chromosomal position effects and vector copy number
    Derek A Persons
    Division of Experimental Hematology, Department of Hematology and Oncology, St Jude Children s Research Hospital, Memphis, TN 38105, USA
    Blood 101:2175-83. 2003
    ..These data establish the potential of using a gamma-globin lentiviral vector for gene therapy of beta-thalassemia...
  53. doi Beta-thalassemia
    Antonio Cao
    Istituto di Neurogenetica e Neurofarmacologia, Consiglio Nazionale delle Ricerche, Cagliari, Italy
    Genet Med 12:61-76. 2010
    Beta-thalassemia is caused by the reduced (beta) or absent (beta) synthesis of the beta globin chains of the hemoglobin tetramer. Three clinical and hematological conditions of increasing severity are recognized, i.e...
  54. ncbi The molecular pathology of beta-thalassemia in Turkey: the Boğaziçi university experience
    A Nazi Basak
    Department of Molecular Biology and Genetics, Neurodegeneration Research Laboratory, Bogazici University, Istanbul, Turkey
    Hemoglobin 31:233-41. 2007
    ....
  55. ncbi Effect of 5-aza-2'-deoxycytidine (Dacogen) on covalent histone modifications of chromatin associated with the epsilon-, gamma-, and beta-globin promoters in Papio anubis
    Donald Lavelle
    Jesse Brown VA Medical Center and Department of Medicine, University of Illinois at Chicago, Chicago, IL 60612, USA
    Exp Hematol 34:339-47. 2006
    ..anubis) pre- and posttreatment...
  56. ncbi Infusion of autologous retrodifferentiated stem cells into patients with beta-thalassemia
    Ilham Saleh Abuljadayel
    TriStem U K Limited
    ScientificWorldJournal 6:1278-97. 2006
    ....
  57. ncbi [Two HLA-loci mismatched sibling cord blood transplantation in a severe beta-thalassemia patient]
    Xin Sun
    Department of Pediatrics, Maternity and Child Care Hospital of Guangzhou, Guangzhou 510108, China
    Zhongguo Shi Yan Xue Ye Xue Za Zhi 11:86-8. 2003
    ..6%, HbA1 1.7%, HbA2 1.7%, beta globin gene mutation CD17, A-->T/IVS-II-654, C-->T)...
  58. pmc Origin and ascendancy of a chimeric fusion gene: the beta/delta-globin gene of paenungulate mammals
    Juan C Opazo
    School of Biological Sciences, University of Nebraska, Nebraska, USA
    Mol Biol Evol 26:1469-78. 2009
    ..of eutherian mammals exhibits a propensity for recombinational exchange with the closely linked beta-globin gene (HBB) and has been independently converted by the HBB gene in multiple lineages...
  59. ncbi Factors influencing variable oxidative hemolysis of inbred mouse erythrocytes
    W C Kruckeberg
    University of Mississippi Medical Center, Department of Preventive Medicine, Jackson 39216-4505
    Biochim Biophys Acta 1094:288-91. 1991
    ..g., BALB/c) in response to hydrogen peroxide stress has been shown to be correlated with the type of hemoglobin beta chain (Kruckeberg, W.C., et al. (1987) Blood 70, 909-914)...
  60. ncbi Generation of tryptic maps of alpha- and beta-globin chains by capillary electrophoresis in isoelectric buffers
    L Capelli
    Department of Agricultural and Industrial Biotechnologies, University of Verona, Italy
    J Chromatogr A 791:313-22. 1997
    ..In 30 mM Asp (pH 3.0) or 20 mM Asp (pH 3.1) resolution of these two peptides is fully restored. Isoelectric, amphoteric buffers thus seem to represent a novel, powerful buffer system able to offer high resolution and high selectivity...
  61. ncbi Genetic variation in mouse beta globin cysteine content modifies glutathione metabolism: implications for the use of mouse models
    James M Hempe
    Research Institute for Children, Children s Hospital, 200 Henry Clay Avenue, New Orleans, LA 70118, USA
    Exp Biol Med (Maywood) 232:437-44. 2007
    Allelic variation in the mouse beta globin gene complex (Hbb) produces structurally different beta globins in different mouse strains...
  62. pmc Activation of the human epsilon- and beta-globin promoters by SV40 T antigen
    S X Cao
    Laboratory of Chemical Biology, National Institute of Diabetes, and Digestive and Kidney Diseases, Bethesda, MD 20892
    Biochem J 258:769-76. 1989
    ....
  63. ncbi Enhancer blocking by chicken beta-globin 5'-HS4: role of enhancer strength and insulator nucleosome depletion
    Hui Zhao
    Laboratory of Cellular and Developmental Biology, NIDDK, National Institutes of Health, Bethesda, Maryland 20892, USA
    J Biol Chem 281:30573-80. 2006
    ..These findings provide evidence that a domain of active chromatin is formed by spreading from an enhancer to a target gene and can be blocked by a nucleosome-free gap in an insulator...
  64. ncbi Spectrum of beta-thalassemia mutations and their association with allelic sequence polymorphisms at the beta-globin gene cluster in an Eastern Indian population
    Ritushree Kukreti
    Functional Genomics Unit, Centre for Biochemical Technology CSIR, Delhi, University Campus, Delhi, India
    Am J Hematol 70:269-77. 2002
    ..An analysis of cis-acting regulatory regions showed varied sequence haplotypes associated with some frequent beta-thalassemia mutations in this Eastern Indian population...
  65. ncbi Developmentally distinct effects on human epsilon-, gamma- and delta-globin levels caused by the absence or altered position of the human beta-globin gene in YAC transgenic mice
    R Bauchwitz
    Columbia University, Department of Genetics and Development, 701 West 168th Street, New York, NY 10032, USA
    Hum Mol Genet 9:561-74. 2000
    ..The relationship of these measurements of transgenic globin expression to a possible binary model of globin LCR action and to mimicry from red blood cell loss due to transgenic globin imbalances are discussed...
  66. pmc All of the human beta-type globin genes compete for LCR enhancer activity in embryonic erythroid cells of yeast artificial chromosome transgenic mice
    Eiichi Okamura
    Graduate School of Life and Environmental Sciences, University of Tsukuba, Tennoudai 1 1 1, Tsukuba, Ibaraki 305 8577, Japan
    FASEB J 23:4335-43. 2009
    ....
  67. pmc Genomic evidence for independent origins of beta-like globin genes in monotremes and therian mammals
    Juan C Opazo
    School of Biological Sciences, University of Nebraska, Lincoln, NE 68588
    Proc Natl Acad Sci U S A 105:1590-5. 2008
    ....
  68. ncbi Importance of molecular biology in the characterization of beta-thalassemia carriers
    D Dell'Edera
    Unit of Cytogenetic and Molecular Genetics Madonna delle Grazie Hospital, Matera, Italy
    Eur Rev Med Pharmacol Sci 15:79-86. 2011
    ..Hb), transferred trough a recessive autosomal mechanism, due to a reduced or else defective synthesis of beta globin sequences...
  69. pmc Lineage-specific patterns of functional diversification in the alpha- and beta-globin gene families of tetrapod vertebrates
    Federico G Hoffmann
    Instituto Carlos Chagas ICC Fiocruz, Curitiba, Brazil
    Mol Biol Evol 27:1126-38. 2010
    ....
  70. ncbi The primary structure of hemoglobin D from the Aldabra giant tortoise, Geochelone gigantea
    Fumio Shishikura
    Department of Biology, Nihon University School of Medicine, Oyaguchi Kamimachi, Itabashi ku, Tokyo 173 8610, Japan
    Zoolog Sci 19:197-206. 2002
    ....
  71. pmc DNase I hypersensitivity and epsilon-globin transcriptional enhancement are separable in locus control region (LCR) HS1 mutant human beta-globin YAC transgenic mice
    Motoshi Shimotsuma
    Graduate School of Life and Environmental Sciences, University of Tsukuba, Tsukuba, Ibaraki 305 8577, Japan
    J Biol Chem 285:14495-503. 2010
    ..We therefore conclude that, although the GATA site in 5'HS1 is critical for efficient epsilon-globin gene expression, hypersensitive site formation per se is independent of 5'HS1 function, if any, in definitive erythroid cells...
  72. ncbi Function of GATA transcription factors in hydroxyurea-induced HEL cells
    S B Zhang
    Institute of Biochemistry and Cell Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences
    Cell Res 11:301-10. 2001
    ....
  73. ncbi [Quantitative analysis of human globin gene expression in beta-thalassemia using real-time RT-PCR]
    Jun Ying Han
    Department of Medical Genetics, Sun Yat sen Medical College, Sun Yat Sen University, Guangzhou 510080, China
    Yi Chuan 27:57-64. 2005
    ..Different types of beta globin gene mutations were analyzed using reverse dot blotting (RDB) method...
  74. doi Identification of the linkage of a 1.357 KB beta-globin gene deletion and A gamma-globin gene triplication in a Chinese family
    Ji wu Lou
    Department of Medical Genetics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, Guangdong Province, People s Republic of China
    Hemoglobin 34:343-53. 2010
    ..Haplotype analyses indicated that the unusual form of the beta-globin gene deletion and gamma-globin gene triplication in cis were linked to halotype [+ - - - - - -]...
  75. ncbi [Preparation of high-affinity monclonal antibody against hemoglobin delta globin chain and beta globin chain]
    Ping Zhu
    Department of Immunology, School of Basic Medical Science, Southern Medical University, Guangzhou 510515, China
    Xi Bao Yu Fen Zi Mian Yi Xue Za Zhi 26:556-9. 2010
    To prepare monclonal antibody (mAb) against both hemoglobin A2 (HbA2) and hemglobin A (HbA), this antiboy can bind to delta globin chain and beta globin chain, but not to gamma globin chain.
  76. ncbi Dominantly Inherited beta-Thalassemia
    Georgi D Efremov
    Research Centre for Genetic Engineering and Biotechnology, Macedonian Academy of Sciences and Arts Skopje, Republic of Macedonia
    Hemoglobin 31:193-207. 2007
    ..The parents had no history of hemolysis. The paternity of the child was confirmed by DNA analysis...
  77. ncbi The clinical significance of the spectrum of interactions of CAP+1 (A-->C), a silent beta-globin gene mutation, with other beta-thalassemia mutations and globin gene modifiers in north Indians
    Gurjeewan Garewal
    Department of Haematology, Postgraduate Institute of Medical Education and Research, Chandigarh, India
    Eur J Haematol 79:417-21. 2007
    ..To assess the clinical significance of the interactions of CAP+1 (A-->C), a silent beta-globin gene mutation, with other beta-thalassemia mutations and globin gene modifiers in north Indians...
  78. doi A novel transgenic mouse model produced from lentiviral germline integration for the study of beta-thalassemia gene therapy
    Wei Li
    Shanghai Institute of Medical Genetics, Shanghai Children s Hospital, Shanghai Jiaotong University School of Medicine, 1400 24 West Beijing Road, Shanghai, China
    Haematologica 93:356-62. 2008
    ..Using a human beta-globin transgenic mouse line in a beta-thalassemia diseased model generated with a lentiviral-mediated approach, we investigate the stable therapeutic effect on a common thalassemia syndrome...
  79. ncbi Individual stage selector element mutations lead to reciprocal changes in beta- vs. epsilon-globin gene transcription: genetic confirmation of promoter competition during globin gene switching
    K P Foley
    Department of Biochemistry, Molecular Biology, and Cell Biology, Northwestern University, Evanston, Illinois 60208 3500
    Genes Dev 6:730-44. 1992
    ....
  80. ncbi [Increased haemoglobin A2 levels in pseudoxanthoma elasticum]
    L Martin
    Consultation Multidisciplinaire PXE, CHR d Orleans, Cedex, France
    Ann Dermatol Venereol 133:645-51. 2006
    ..A PXE phenotype without mutations in ABCC6 has been described in Greek and Italian patients presenting with beta thalassemia. We attempted to determine the incidence of beta thalassemia in a cohort of French patients with PXE...
  81. doi Characteristics of the beta-globin gene cluster haplotypes of three Han Chinese populations at Beijing, Xi'an, and Kunming as compared with those of other Asian populations
    Koji Shimizu
    Laboratory of Biology, Naruto University of Education, Tokushima, 772 8502, Japan
    Biochem Genet 46:566-82. 2008
    ..A genetic boundary between northern and southern Han Chinese was not evident in the present study...
  82. ncbi Primary sequence, evolution, and repetitive elements of the Gallus gallus (chicken) beta-globin cluster
    M Reitman
    Diabetes Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, Maryland 20892
    Genomics 18:616-26. 1993
    ..The cluster shows a massive overrepresentation of a non-LTR retrotransposon, CR1, which accounts for 16% of the DNA. We suggest that the locus is a preferred site for CR1 insertion...
  83. pmc Conservation of the primary structure, organization, and function of the human and mouse beta-globin locus-activating regions
    A M Moon
    Department of Medicine, Jewish Hospital, Washington University Medical Center, Saint Louis, MO 63110
    Proc Natl Acad Sci U S A 87:7693-7. 1990
    ..These results suggest that primary structural elements--and the spatial organization of these elements--are important for function of the beta-globin LAR...
  84. ncbi A single, large deletion accounts for all the beta-globin gene mutations in twenty families from Sabah (North Borneo), Malaysia. Mutation in brief no. 240. Online
    M K Thong
    Department of Paediatrics, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia
    Hum Mutat 13:413. 1999
    ..for a large deletion, which has a 5' breakpoint at position -4279 from the cap site of the beta-globin gene (HBB) with the 3' breakpoint located in a L1 family of repetitive sequences at an unknown distance from the beta-globin ..
  85. ncbi Successful correction of the human Cooley's anemia beta-thalassemia major phenotype using a lentiviral vector flanked by the chicken hypersensitive site 4 chromatin insulator
    Punam Malik
    Saban Research Institute, Division of Hematology Oncology, Childrens Hospital Los Angeles, Department of Pediatrics, Los Angeles, California 90027, USA
    Ann N Y Acad Sci 1054:238-49. 2005
    ..Results show genetic correction of primitive human progenitor cells and normalization of the human thalassemia major phenotype...
  86. ncbi Humanized beta-thalassemia mouse model containing the common IVSI-110 splicing mutation
    Jim Vadolas
    Cell and Gene Therapy Research Group, Murdoch Childrens Research Institute, The University of Melbourne, Royal Children s Hospital, Parkville 3052, Melbourne, Australia
    J Biol Chem 281:7399-405. 2006
    ..The humanized IVSI-110 mouse model accurately recapitulates the splicing defect found in comparable beta-thalassemia patients. This mouse model is available as a platform for testing strategies for the restoration of normal splicing...
  87. doi {beta}-thalassemia major evolution from {beta}-thalassemia minor is associated with paternal uniparental isodisomy of chromosome 11p15
    Jan Gowth Chang
    Department of Internal Medicine, Kaohsiung Medical University Hospital, Kaohsiung, Taiwan
    Haematologica 93:913-6. 2008
    beta-thalassemia major can be caused by homozygosity or compound heterozygosity for beta-globin gene mutations (HBB gene). Most cases are inherited from parents who both have diseased alleles of the HBB gene...
  88. ncbi Evidence that microdeletions in the alpha globin gene protect against the development of sickle cell glomerulopathy in humans
    A Guasch
    Department of Medicine, Emory University School of Medicine, Atlanta, Georgia 30322, USA
    J Am Soc Nephrol 10:1014-9. 1999
    ....
  89. doi High oxygen environment during pregnancy rescues sickle cell anemia mice from prenatal death
    Lin Ye
    Department of Medicine, Cardiovascular Research Institute, Institute for Human Genetics, University of California, San Francisco, CA 94143 0793, USA
    Blood Cells Mol Dis 41:67-72. 2008
    ..The higher yield of these mice has facilitated physiological and therapeutic studies of sickle cell anemia...
  90. ncbi [Family screening for HBB*S gene and detection of new cases of sickle cell trait in Northeastern Brazil]
    Flavia Miranda Gomes C Bandeira
    Fundação de Hematologia e Hemoterapia de Pernambuco, Recife, PE, Brazil
    Rev Saude Publica 42:234-41. 2008
    ..To estimate the additional number of affected individuals based on the prevalence of sickle-cell syndromes among relatives of index cases...
  91. pmc Induction of endogenous gamma-globin gene expression with decoy oligonucleotide targeting Oct-1 transcription factor consensus sequence
    Xiaoxin S Xu
    Institute of Environmental Health Sciences, Wayne State University, 2727 Second Avenue, Detroit, MI 48201, USA
    J Hematol Oncol 2:15. 2009
    ..It also provides an innovative strategy for the treatment of many disease conditions, including sickle cell anemia and beta-thalassemia...
  92. pmc Transgenic knockout mice exclusively expressing human hemoglobin S after transfer of a 240-kb betas-globin yeast artificial chromosome: A mouse model of sickle cell anemia
    J C Chang
    Department of Laboratory Medicine, University of California, San Francisco, CA 94143 0793, USA
    Proc Natl Acad Sci U S A 95:14886-90. 1998
    ..These mice have hemolytic anemia, 10% irreversibly sickled cells in their peripheral blood, reticulocytosis, and other phenotypic features of SCA...
  93. ncbi Inhibition of beta protein 1 expression enhances beta-globin promoter activity and beta-globin mRNA levels in the human erythroleukemia (K562) cell line
    Olga P Zoueva
    Molecular and Clinical Hematology Branch, National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Exp Hematol 32:700-8. 2004
    ..We focused on the role of the silencer II region located upstream of the beta-globin gene, which along with its cognate binding protein BP1, negatively regulates beta-globin transcription...
  94. ncbi Molecular analysis of Iranian families with sickle cell disease
    Maryam Ayatollahi
    Transplant Research Center, Shiraz University of Medical Sciences, Shiraz, Iran
    J Trop Pediatr 51:136-40. 2005
    ..This amplification method is rapid, sensitive and simple, and also has application research that is important for the prenatal diagnosis of sickle cell disease...
  95. ncbi Growth factor receptor expression during in vitro differentiation of partially purified populations containing murine stem cells
    E Ashihara
    Laboratory of Hematopoietic Growth Factors, Lindsley F Kimball Research Institute, New York Blood Center, New York 10021, USA
    J Cell Physiol 171:343-56. 1997
    ..Therefore, activation of the expression of the Epo receptor gene and activation of the erythroid differentiation program are two independent events in normal hematopoiesis...
  96. doi Clinical and haematological features in a compound heterozygote (HBB:c.92 + 5G > C/HBB:c.93-2A > C) case of thalassaemia major
    S Agarwal
    Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India
    Int J Lab Hematol 32:369-72. 2010
    ..6 pg, MCHC: 33.5%, HbA(2): 5.3%, HbF: 0% and HbA: 85.4%. The boy was found to be compound heterozygote for beta globin gene mutations (HBB:c.92 + 5G > C/HBB:c.93-2A > C). The mutation HBB:c...
  97. pmc Peptide nucleic acid (PNA) binding-mediated induction of human gamma-globin gene expression
    G Wang
    Department of Structural and Cellular Biology, University of South Alabama College of Medicine, MSB 2042, Mobile, AL 36688 0002, USA
    Nucleic Acids Res 27:2806-13. 1999
    ..PNA-induced gene expression strategy also may have implications in gene therapy of other diseases such as genetic diseases, cancer and infectious diseases...
  98. ncbi {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
    C Anthony Blau
    Division of Hematology, Department of Medicine, University of Washington Medical Center, Seattle, Washington 98195, USA
    J Biol Chem 280:36642-7. 2005
    ..These cells may be useful for identifying transcription factors that reactivate gamma-globin synthesis or screening gamma-globin inducers for the treatment of sickle cell disease or beta-thalassemia...
  99. ncbi An analysis of fetal hemoglobin variation in sickle cell disease: the relative contributions of the X-linked factor, beta-globin haplotypes, alpha-globin gene number, gender, and age
    Y C Chang
    Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD
    Blood 85:1111-7. 1995
    ..The variation within each FCP phenotype is modulated by factors associated with the three common beta-globin haplotypes and other as yet unidentified factor(s)...
  100. pmc Correction of murine sickle cell disease using gamma-globin lentiviral vectors to mediate high-level expression of fetal hemoglobin
    Tamara I Pestina
    Division of Experimental Hematology, Department of Hematology, St Jude Children s Research Hospital, Memphis, Tennessee, USA
    Mol Ther 17:245-52. 2009
    ..These data support the rationale for a gene therapy approach to SCD by permanently enhancing HbF using a gamma-globin lentiviral vector...
  101. ncbi Screening of Iranian thalassemic families for the most common deletions of the beta-globin gene cluster
    Fatemehsadat Esteghamat
    Kariminejad Najmabadi Pathology and Genetics Center, Tehran, Iran
    Hemoglobin 31:463-9. 2007
    ..This is the first study of the deletions involved in deltabeta-thal in Iranian patients. Our study highlights the importance of detecting these mutations for prenatal diagnosis carrier detection and genotype/phenotype prediction...

Research Grants77

  1. A MODEL FOR SICKLE CELL DISEASE & GENETIC THERAPIES
    Tim Townes; Fiscal Year: 1999
    ..Inhibition of in vivo pathology by either of the methods described above will demonstrate athe efficacy of these strategies and will provide a foundation for genetic therapy of sickle cell disease in humans. ..
  2. Intracelllar Pathways That Silence the Fetal Globin Gene
    Tohru Ikuta; Fiscal Year: 2006
    ..Furthermore, important information to develop novel Hb F inducers will be disclosed by this study. ..
  3. Transactivation of Fetal Hemoglobin Genes for Treatment*
    Tim Townes; Fiscal Year: 2004
    ..These studies will provide a solid foundation for subsequent clinical trials in human patients with this devastating disease. ..
  4. The influence of genotype on the outcome of gene transfer in beta-thalassemia
    Stefano Rivella; Fiscal Year: 2010
    ..With this model, based on the genotype and analysis of the mRNA stability, we aim to predict the potential success of gene therapy given a specific mutation. ..
  5. REGULATION OF BETA GLOBIN LOCUS CHROMATIN STRUCTURE
    Christopher Lowrey; Fiscal Year: 2001
    ..These experiments provide a comprehensive approach to understanding the regulation of beta-globin locus chromatin structure and potential applications to development of gene therapy strategies. ..
  6. Characterization of a alpha-globin chaperone protein
    Mitchell Weiss; Fiscal Year: 2006
    ..abstract_text> ..
  7. Gamma-globin gene silencing in human red cells
    Dorothy Tuan; Fiscal Year: 2006
    ..abstract_text> ..
  8. REGULATION AND FUNCTION OF A HUMAN EMBRYONIC GLOBIN
    J Russell; Fiscal Year: 2007
    ..The proposed research comprises a crucial step in evaluating the promise of developmentally silenced globin genes for individuals with beta-thalassemia and sickle cell anemia. ..
  9. BETA-GLOBIN TRANSCRIPTIONAL REGULATION
    JAMES ENGEL; Fiscal Year: 2007
    ....
  10. BETA GLOBIN TRANSCRIPTIONAL REGULATION
    JAMES ENGEL; Fiscal Year: 1999
    ..The proposal will also examine the question of whether or not developmental stage-specific transcription factor binding to the beta/epsilon-globin gene enhancer differentially contributes to chicken beta-globin gene switching. ..
  11. The role of hepcidin in beta-thalassemia
    Stefano Rivella; Fiscal Year: 2007
    ....
  12. Cell Therapies for Cooley's Anemia
    Thomas Ryan; Fiscal Year: 2006
    ..abstract_text> ..
  13. Nonsense codon activation of endonuclease-mediated mRNA decay
    Daniel R Schoenberg; Fiscal Year: 2010
    ..This research seeks to understand how these defective gene products are destroyed and how this information might be used to develop new treatments for this debilitating disease. ..
  14. Antisense Treatment for Thalassemia. Preclinical study.
    Ryszard Kole; Fiscal Year: 2007
    ..3) To confirm that the most effective oligonucleotides identified in Specific Aims 1 and 2 are effective in erythroid cells from patients with thalassemia. ..
  15. REGULATION OF HUMAN GLOBIN GENE EXPRESSION
    Arthur Bank; Fiscal Year: 2004
    ..to identify and characterize DNA sequences and trans-acting factors that regulate the expression of the human beta globin gene complex, especially those involved in the switch from gamma to beta synthesis in late fetal life...