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proteins. Page last changed on 19 Dec 2016.
Hemoglobin, beta
Beta-globin, Hbb
The alpha (HBA) and beta (HBB) loci determine the structure of the 2 types of polypeptide chains in adult hemoglobin, Hb A. The normal adult hemoglobin tetramer consists of two alpha chains and two beta chains. Mutant beta globin causes sickle cell anemia. Absence of beta chain causes beta-zero-thalassemia. Reduced amounts of detectable beta globin causes beta-plus-thalassemia. The order of the genes in the beta-globin cluster is 5'-epsilon -- gamma-G -- gamma-A -- delta -- beta--3'. [provided by RefSeq, Jul 2008] (from
NCBI)
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HAD, CAN, POLYMERASE, OUT, ACID
Papers on
Beta-globin
The Interplay Between Peroxiredoxin-2 and Nuclear Factor-Erythroid 2 Is Important in Limiting Oxidative Mediated Dysfunction in β-Thalassemic Erythropoiesis.
New
Verona, Italy. In Antioxid Redox Signal, Jan 2016
RESULTS: Here, we showed that Prx2(-/-) mice displayed reactive oxygen species related abnormalities in erythropoiesis similar to that of Hbb(th3/+) mice associated with activation of redox response transcriptional factor nuclear factor-erythroid 2 (Nrf2).
Erythroferrone contributes to hepcidin suppression and iron overload in a mouse model of β-thalassemia.
New
Los Angeles, United States. In Blood, Nov 2015
Erfe expression was highly increased in the marrow and spleen of Hbb(Th3/+) mice (Th3/+), a mouse model of thalassemia intermedia.
EHMT1 and EHMT2 inhibition induces fetal hemoglobin expression.
New
Boston, United States. In Blood, Nov 2015
In murine erythroleukemia cells, UNC0638 and Ehmt2 CRISPR/Cas9-mediated knockout both led to a marked increase in expression of embryonic β-globin genes Hbb-εy and Hbb-βh1.
Beta-globin gene evolution in the ruminants: evidence for an ancient origin of sheep haplotype B.
New
Australia. In Anim Genet, Oct 2015
Domestic sheep (Ovis aries) can be divided into two groups with significantly different responses to hypoxic environments, determined by two allelic beta-globin haplotypes.
miRNA-embedded shRNAs for Lineage-specific BCL11A Knockdown and Hemoglobin F Induction.
New
Boston, United States. In Mol Ther, Sep 2015
This was associated with a significant de-repression of the hemoglobin target of BCL11A, human γ-globin or the murine homolog Hbb-y.
Beta-globin gene haplotypes among cameroonians and review of the global distribution: is there a case for a single sickle mutation origin in Africa?
Review
New
Yaoundé, Cameroon. In Omics, Mar 2015
We evaluated HBB gene cluster haplotypes in SCD patients from Cameroon, and reviewed the literature for a global distribution.
Frequency of Human Papillomavirus Genotypes 6, 11, 16, 18 And 31 in Paraffin-Embedded Tissue Samples of Invasive Breast Carcinoma, North- East of Iran.
Mashhad, Iran. In Iran J Pathol, 2014
RESULTS: Of total 206 (63.2%) samples positive for Beta-globin gene, 54 (26.2%) were HPV-positive and 152 (73.8%) were negative for HPV.
The Effect of Acute and Chronic Social Stress on the Hippocampal Transcriptome in Mice.
Poland. In Plos One, 2014
Chronic stress affected genes involved in the functioning of the vascular system (Alas2, Hbb-b1, Hba-a2, Hba-a1), injury response (Vwf, Mgp, Cfh, Fbln5, Col3a1, Ctgf) and inflammation (S100a8, S100a9, Ctla2a, Ctla2b, Lcn2, Lrg1, Rsad2, Isg20).
Identification of erythroferrone as an erythroid regulator of iron metabolism.
Impact
Los Angeles, United States. In Nat Genet, 2014
ERFE expression is greatly increased in Hbb(th3/+) mice with thalassemia intermedia, where it contributes to the suppression of hepcidin and the systemic iron overload characteristic of this disease.
CTCF-mediated transcriptional regulation through cell type-specific chromosome organization in the β-globin locus.
GeneRIF
Paris, France. In Nucleic Acids Res, 2012
The results show that the set of regional CTCF site interactions drive the beta globin locus control region and globin genes closer together in expressing cells than in silent cells.
Hb S [β6(A3)Glu→Val, GAG>GTG] and β-globin gene cluster haplotype distribution in Mauritania.
GeneRIF
Nouakchott, Mauritania. In Hemoglobin, 2011
Data showed that Hemoglobin S (Hb S) is a serious public health problem in Mauritania.
Role of hemoglobin and serum iron in oral submucous fibrosis: a clinical study.
GeneRIF
Bhopāl, India. In Scientificworldjournal, 2011
Oral submucous fibrosis patients showed significantly lower levels of hemoglobin and serum iron when compared with the healthy subjects.
Unspliced precursors of NMD-sensitive β-globin transcripts exhibit decreased steady-state levels in erythroid cells.
GeneRIF
Lisbon, Portugal. In Plos One, 2011
The steady-state levels of the unspliced transcripts of wild-type and premature translation-termination codons-containing human beta-globin genes, were determined.
The +1,506 (A>C) mutation in the 3' untranslated region affects β-globin expression.
GeneRIF
Ube, Japan. In Hemoglobin, 2011
Data suggest that the +1,506 (A>C) mutation in the 3' untranslated region (3'UTR) destabilizes mRNA and consequently decreases the beta-globin amount to finally cause beta-thalassemia (beta-thal).
Transferrin therapy ameliorates disease in beta-thalassemic mice.
Impact
New York City, United States. In Nat Med, 2010
We tested the ability of transferrin injections to modulate iron metabolism and erythropoiesis in Hbb(th1/th1) mice, an experimental model of beta-thalassemia.
Beta-globin regulation and long-range interactions.
Review
Rotterdam, Netherlands. In Adv Genet, 2007
The demonstration that the major regulatory element of the beta-globin locus, the locus control region (LCR), is in close proximity to the active beta-globin genes validates the contact model for long-range activation.
Beta-globin-gene haplotypes, mitochondrial DNA, the Y-chromosome: their impact on the genetic epidemiology of the major structural hemoglobinopathies.
Review
United States. In Cell Mol Biol Incl Cyto Enzymol, 2004
The history of the discovery of the globin beta-like globin-gene haplotypes and their importance in the understanding of hemoglobinopathies has been reviewed recently.
The intricacies of beta-globin gene expression.
Review
Edmonton, Canada. In Biochem Cell Biol, 1994
Owing to its developmental and tissue-specific expression, the beta-globin gene is an excellent model for studying gene expression.
Beta-globin gene inactivation by DNA translocation in gamma beta-thalassaemia.
Impact
In Nature, 1984
The beta-globin gene present on the deletion locus in a Dutch gamma beta-thalassaemic patient was found to be identical to the normal beta-globin gene with respect to DNA sequence and its transcription in HeLa cells.
Beta Thalassemia: mutations which affect processing of the beta-Globin mRNA precursor.
Impact
In Cell, 1980
To define the molecular lesion which causes decreased beta-globin synthesis in beta+ thalessemia, four patients of diverse ethnic origin were studied.
