Human beta globin locus. Medical search. Frequent questions

The human β-globin locus is composed of five genes located on a short region of chromosome 11, responsible for the creation of the beta parts (roughly half) of the oxygen transport protein Haemoglobin. (wikipedia.org)
Expression of all of these genes is controlled by single locus control region (LCR), and the genes are differentially expressed throughout development. (wikipedia.org)
Many CRMs have been mapped within the cluster of genes encoding β-like globins expressed in embryonic (HBE1), fetal (HBG1 and HBG2), and adult (HBB and HBD) erythroid cells. (wikipedia.org)
Because all gene loci are involved in complicated interactions with many other genes (metabolic pathways, for example), the standard two-locus model is significantly oversimplified. (forgottenportal.com)
Discovering how the alpha and beta globin genes are normally regulated and documenting the effects of inherited mutations which cause thalassemia have played a major role in establishing our current understanding of how genes are switched on or off in hematopoietic cells. (ox.ac.uk)
For instance the genes for insulin in pancreas, genes for beta and alpha globins in RBC and genes for digestive enzymes. (biologybard.com)
It is comprised of 2 alpha and 2 beta polypeptide chains that are encoded by genes on two different chromosomes. (biologybard.com)
In case of humans, the cluster of beta-globin is found on chromosome 11 and comprise of 1 pseudogene and 5 active genes. (biologybard.com)
Each of these active genes at a specfic developmental stage produces a beta-globin. (biologybard.com)
The developmental order of these genes include epsilon, gamma-G, gamma-A, delta and beta. (biologybard.com)
The LCR (Locus Control Region) is a regulatory site that activates these genes and this is also crucial to activate transcription of any of the beta-globin genes. (biologybard.com)
At the beta-globin locus, enhancer-promoter interactions appear dynamic and cell-type specific, whereas atthe HoxD locus they are stable and ubiquitous, being present in tissues where the target genes are not expressed. (ens-lyon.fr)
2017). Both the alpha- and beta-globin loci harbour genes encoding globin chains that are specifically expressed only in the first trimester of gestation (termed embryonic globins) in addition to the genes encoding the adult globin chains that are expressed throughout adult life. (ox.ac.uk)
The sequential activation and repression of the globin genes throughout development to maturity is termed haemoglobin switching. (ox.ac.uk)
The locus control region (LCR) of mammalian beta-globin genes covers at least 17 kb at the 5' end of the gene cluster and has been implicated in chromatin domain opening, enhancement, and insulation from neighboring sequences. (shengsci.com)
In a study on vertebrate globins, Jay Storz and his colleagues wrote, "The retention of the proto- Hb and Mb genes in the ancestor of jawed vertebrates permitted a physiological division of labor between the oxygen-carrier function of Hb [hemoglobin] and the oxygen-storage function of Mb [myoglobin]. (icr.org)
The genes are strung together in a particular sequence or order and the position occupied by a particular gene is referred to as a locus , which is simply the location of the gene in relation to all of the other genes of the individual, analogous to a specific address on a street. (vin.com)

My research focuses on the genetic causes of anaemia, regulation of the alpha globin locus and haemoglobin switching. (ox.ac.uk)

The complete sequences of the galago and rabbit beta-globin locus control regions: extended sequence and functional conservation outside the cores of DNase hypersensitive sites. (shengsci.com)
1678 /note='chimeric intron' /note='chimera between introns from chicken?beta-actin and rabbit?beta-globin' /note='color: #ffffff' CDS 1745. (biofeng.com)

This particular record shows the beta globin locus on chromosome 11. (nih.gov)

Beta-globin is a component (subunit) of a larger protein called hemoglobin, which is located inside red blood cells. (medlineplus.gov)
In adults, hemoglobin consists of four protein subunits: usually two subunits of beta-globin and two subunits of a protein called alpha-globin, which is produced from another gene called HBA . (medlineplus.gov)
Problems with the subunits that make up hemoglobin, including low levels of beta-globin, reduce or eliminate the production of this molecule. (medlineplus.gov)
Variants in the HBB gene have been found to cause methemoglobinemia, beta-globin type, which is a condition that alters the hemoglobin within red blood cells. (medlineplus.gov)
This form is caused by a particular variant in the HBB gene that results in the production of an abnormal version of beta-globin called hemoglobin S or HbS. (medlineplus.gov)
In this condition, hemoglobin S replaces both beta-globin subunits in hemoglobin. (medlineplus.gov)
The variant that causes hemoglobin S changes a single protein building block (amino acid) in beta-globin. (medlineplus.gov)
In these other types of sickle cell disease, just one beta-globin subunit is replaced with hemoglobin S. The other beta-globin subunit is replaced with a different abnormal variant, such as hemoglobin C or hemoglobin E. (medlineplus.gov)
In hemoglobin SC (HbSC) disease, the beta-globin subunits are replaced by hemoglobin S and hemoglobin C. Hemoglobin C results when the amino acid lysine replaces the amino acid glutamic acid at position 6 in beta-globin (written Glu6Lys or E6K). (medlineplus.gov)
Interestingly, the globins from the lamprey, sea hare and the legumes are as distant from one another as are α-hemoglobin and β-hemoglobin from myoglobin. (pharmaceuticalintelligence.com)
The beta chain of embryonic hemoglobin is formed by epislon globin, that is soon replaced by gamma globins in 3 months. (biologybard.com)
Representation of a human hemoglobin protein molecule. (icr.org)
There are over 300 alleles (one of two or more forms of a gene that produce variations in a given trait) for the hemoglobin gene, part of the globin gene superfamily. (icr.org)
They are characterized by reduced or absent production of 1 or more of the globin chains of which human hemoglobin is composed. (medscape.com)
The oxygen carrying capability of the red blood cells (RBCs) relies on hemoglobin, a tetramer protein that comprises 4 globin chains bound to the heme molecule. (medscape.com)
The dominant hemoglobin in adults (hemoglobin A) is composed of 2 alpha and 2 beta chains. (medscape.com)
DNA polymorphisms at the BCL11A, HBS1L-MYB, and beta-globin loci associate with fetal hemoglobin levels and pain crises in sickle cell disease. (cdc.gov)

Globin phenotype of erythroid cells derived from human induced pluripotent stem cells. (uci.edu)
Our data show that selective silencing of α-globin expression in erythroid cells is pharmacologically feasible, and IOX1 is a lead compound to developing new therapy to treat β-thalassemia through the novel pathway of downregulating α-globin expression. (haematologica.org)

Transcriptional environment and chromatin architecture interplay dictates globin expression patterns of heterospecific hybrids derived from undifferentiated human embryonic stem cells or from their erythroid progeny. (uci.edu)

Commentary on "The modifying effect of Xmn1-HBG2 on thalassemic phenotype is associated with its linked elements in the beta globin locus control region, including the palindromic site at 5' HS4" by M. Neishabury et al. (ox.ac.uk)
2 Clinical genetic data accumulated over the last 30 years indicate that a natural reduction in α-globin chain output by 25-50%, resulting from co-inherited α-thalassemia, ameliorates the disease phenotype in patients with β-thalassemia. (haematologica.org)
Genetic heterogeneity is so extensive that most mendelian conditions are associated with numerous mutations at one locus-or often multiple loci-that produce the same phenotype. (mhmedical.com)

Scott confidently asserts that because of mutations the beta-globin pseudogene "isn't going to do diddly. (uncommondescent.com)
Hundreds of variants (also known as mutations) in the HBB gene have been found to cause beta thalassemia. (medlineplus.gov)
Previously, nearly all mutations causing thalassemia have been found in or around the globin loci, but rare inherited and acquired trans-acting mutations are being found with increasing frequency. (ox.ac.uk)
Such mutations have demonstrated new mechanisms underlying human genetic disease. (ox.ac.uk)
Cross-Sectional Study for the Detection of Mutations in the Beta-Globin Gene Among Patients with Hemoglobinopathies in the Bengali Population. (cdc.gov)

Sequencing of the human genome has opened up several best-kept secrets of the genome. (jove.com)
In its untangled, unfolded and completely linearized state, the human genome has a length of ~2 m. (biomedcentral.com)
Definition of RNA polymerase II CoTC terminator elements in the human genome. (ox.ac.uk)
There are works about, how single nucleotide polymorphisms, or SNPs (pronounced «snips»), in the human genome correlate with disease, with drug response, and other phenotypes. (andrologica.org)
SNP, or single nucleotide polymorphisms, are responsible for a large part of the diversity of the human genome. (andrologica.org)
We calculated the genetic risk of 102 diseases in 1,043 unrelated individuals across 51 populations of the Human Genome Diversity Panel. (prolekarniky.cz)
At the same time, Genome-Wide Association Studies (GWAS) have increased discoveries of disease-associated genetic loci. (prolekarniky.cz)
The human genome has been subjected to many selective pressures in recent history. (prolekarniky.cz)
[6] genotyped 25 disease-associated SNPs in ∼1,000 individuals from 53 populations in the HGDP-CEPH Human Genome Diversity Cell Line panel [15] . (prolekarniky.cz)

The extent to which preformed enhancer-promoter conformations exist at other, more typical, loci and how transcription is eventually triggered is unclear. (ens-lyon.fr)
Our results indicate that the general topology governing enhancer contacts is conserved from flies to humans and suggest that transcription initiates from preformed enhancer-promoter loops through release of paused polymerase. (ens-lyon.fr)
I am developing a live-cell model in which chromatin at the alpha globin promoter and enhancer sequences is bound by fluorescently labelled proteins. (ox.ac.uk)
387 /note='CMV enhancer' /note='human cytomegalovirus immediate early enhancer' /note='color: #000000' promoter 390. (biofeng.com)

Specifically, the amino acid glutamic acid is replaced with the amino acid valine at position 6 in beta-globin, written as Glu6Val or E6V. (medlineplus.gov)
For example, all sickle cell disease is caused by exactly the same change of glutamate to valine at position 6 of beta-globin, and that substitution in turn is due to a change of one nucleotide at the sixth codon in the beta-globin gene. (mhmedical.com)

Here we report the relative contributions of TE-driven CTCF binding site expansions to conserved and divergent chromatin looping in human and mouse. (nature.com)

The HBB gene provides instructions for making a protein called beta-globin. (medlineplus.gov)
In methemoglobinemia, beta-globin type, variants in the HBB gene alter the beta-globin protein and promote the heme iron to change from ferrous to ferric. (medlineplus.gov)
HbA/HbA, HbA/HbS and HbS/HbS are phenotypes of the haemoglobin beta-globin gene identified by protein electrophoresis. (forgottenportal.com)
5881 /codon_start=1 /locus_tag=' ' /product='nuclear localization signal of SV40 large T antigen' /note='SV40 NLS' /note=' ' /note='color: #993366' /protein_id=' ' /translation='PKKKRKV' CDS 5897. (biofeng.com)
A gene in humans that encodes for a transcription factor protein and is involved in the production of speech. (anthropogeny.org)
Regulation of beta catenin signaling and parathyroid hormone anabolic effects in bone by the matricellular protein periostin. (univ-paris5.fr)

In his research, Sjaak Philipsen undertakes multidisciplinary study on Enhancer and Locus control region. (research.com)
Locus control region and Enhancer are two areas of study in which Sjaak Philipsen engages in interdisciplinary research. (research.com)

LOCUS Exported File 9271 bp ds-DNA circular SYN 23-��-2016 DEFINITION Plasmid for co-expression in mammalian cells of enhanced GFP (EGFP) and human codon-optimized Cas9 with the D10A nickase mutation. (biofeng.com)
TGF-Beta codon 25 polymorphism and the risk of graft-versus-host disease after allogenic hematopoietic stem cell transplantation. (cdc.gov)

1 The accumulation of free excess α-globin chains in red blood cells and their precursors, as a result of the decreased production of β-globin, is believed to be the main pathophysiological mechanism leading to hemolytic anemia and ineffective erythropoiesis in β-thalassemia. (haematologica.org)
It's designed as four subunits (two alpha and two beta chains), each with an eight-helix folded pattern. (icr.org)
The red color is from several complex hemoglobins that have 144 globin chains. (icr.org)
A very tightly controlled globin chain production process keeps the ratio of alpha chains to non-alpha chains at 1.00 (± 0.05). (medscape.com)

He incorporates Gene expression and Globin in his studies. (research.com)
Furthermore, they are revealing new pathways in the regulation of globin gene expression which, in turn, may eventually open up new avenues for improving the management of patients with common types of thalassemia. (ox.ac.uk)
5 3 Herein, we have developed and performed a targeted small molecule screen to identify compounds which downregulate α-globin expression. (haematologica.org)
This identified IOX1, a pan-histone demethylase inhibitor, which selectively downregulates α-globin expression without perturbing erythroid differentiation or general gene expression, more specifically β-like globin expression. (haematologica.org)

Titled, "Evolutionary Constraints in the β-Globin Cluster: The Signature of Purifying Selection at the δ-Globin (HBD) Locus and Its Role in Developmental Gene Regulation," the paper reported the beta-globin pseudogene is functional. (uncommondescent.com)

Using our knowledge of the human β-globin terminator mechanism, we have developed a selection strategy for mapping mammalian Pol II terminator elements. (ox.ac.uk)

Because both alleles are transcribed into RNA, they co-dominate in most gene loci. (forgottenportal.com)
In a diploid cell, each locus is occupied by two alleles, one of maternal origin and the other of paternal origin, located on homologous chromosomes. (andrologica.org)

HBB gene variants that decrease beta-globin production result in a condition called beta-plus (β + ) thalassemia. (medlineplus.gov)
Variants that prevent cells from producing any beta-globin result in beta-zero (β 0 ) thalassemia. (medlineplus.gov)
A lack of oxygen in the body's tissues can lead to poor growth, organ damage, and other health problems associated with beta thalassemia. (medlineplus.gov)
2014) derepress zeta-globin to shed light on the regulation of this gene and investigate whether it may be de-repressed in adulthood to ameliorate the symptoms of severe alpha-thalassemia. (ox.ac.uk)
[ 10 ] Individuals with beta thalassemia syndromes have somewhat better protection against malaria than individuals with alpha thalassemia syndromes. (medscape.com)

Analyzing the impact of human migration on genetic disease susceptibility is critical to the understanding of complex disease. (prolekarniky.cz)
While a large set of loci may increase susceptibility to complex disease, individual loci generally make modest contributions, and their effect sizes indicate that they would not be expected to decrease reproductive success [12] . (prolekarniky.cz)

Variants in the HBB gene can also cause other abnormalities in beta-globin, leading to other types of sickle cell disease. (medlineplus.gov)
An example of these markers is the single nucleotide polymorphism of the beta-globin gene, which allows prenatal diagnosis of sickle cell disease. (andrologica.org)

We found that genetic risk for type 2 diabetes and pancreatic cancer decreased as humans migrated toward East Asia. (prolekarniky.cz)
5. Liu C, Huang Y, Zhang Y, Chen X, Kong X, Dong Y. Intracellular methylglyoxal induces oxidative damage to pancreatic beta cell line INS-1 cell through Ire1α-JNK and mitochondrial apoptotic pathway. (ac.ir)

Researching the genetic basis of anaemia, alpha-globin gene regulation and haemoglobin switching. (ox.ac.uk)

Her slide, which she borrowed (with permission, she notes) from Ken Miller's slide deck at the 2005 Kitzmiller v. Dover trial, calls the beta-globin pseudogene "non-functional. (uncommondescent.com)

At birth, The 2 adult hemoglobins present at birth are beta globin and delta globin. (biologybard.com)
While the full physiological significance of the developmental diversity of hemoglobins is not yet understood, it is clear that the multiplicity of hemoglobins produced in a developmentally controlled manner is a strongly conserved feature across vertebrates, including the jawless vertebrates (agnathans), which are the most distantly related extant vertebrate relatives to humans. (icr.org)

Recombinant fragment corresponding to Human Nrf2 aa 108-413 (internal sequence). (abcam.com)
Its sequence, when compared to those of members of the human carcinoembryonic antigen gene family, was most homologous to the sequence of the human biliary glycoprotein (BGP) gene. (shengsci.com)
The identification and sequence of KiSS-1 (HGMW-approved symbol, KISS1), a human malignant melanoma metastasis-suppressor gene, was recently published. (shengsci.com)

For example, in patients with sickle cell anemia, a single base substitution from adenine to thymine in a specific locus of the beta-globin gene causes sickle-shaped red blood cells. (jove.com)

In addition, we review the importance of histone H3.3 turnover in human health as well as its emerging role in disorders. (aging-us.com)

Human CD34 + hematopoietic stem and progenitor cells purified from umbilical cord or adult peripheral blood were cultured in a two-phase liquid culture system in a serum-free medium for 21 days. (haematologica.org)

We report the identification of 78 cotranscriptional cleavage (CoTC)-type terminator elements at endogenous gene loci. (ox.ac.uk)

A regulatory region first identified in the human beta-globin locus but subsequently found in other loci. (bvsalud.org)

Human Molecular Genetics vol. 31 , n° 1 , dir. (mnhn.fr)

And as we'll see below, a 2021 paper in Developmental Cell found that this pseudogene-which Dr. Scott claimed does "diddly"-has "essentiality" and "indispensability" for human red blood cell formation. (uncommondescent.com)

We first optimized a serum-free, miniature erythroid differentiation system starting from primary human CD34 cells, the exact type of cells we would ultimately like to target in vivo ( Figure 1 ). (haematologica.org)

The miRNAs miR-211-5p and miR-204-5p modulate ER stress in human beta cells. (ac.ir)

This locus contains not only the beta globin gene but also delta, gamma-A, gamma-G, and epsilon globin. (wikipedia.org)
There are 4 major types of globins: alpha (α), beta (β), gamma (γ), and delta (δ). (medscape.com)

One manifestation of negative selection in the globins is that minimal 3-base type amino acid replacements occur less frequently than would be expected if base replacements had occurred and were accepted at random. (pharmaceuticalintelligence.com)

Accelerated rates of globin evolution were found in lineages of cold-blooded vertebrates, some marsupials, and early placental mammals, while slower rates were found in warm-blooded vertebrates, especially higher primates. (pharmaceuticalintelligence.com)
Transcripts related to the human carcinoembryonic antigen were found in mRNA isolated from both dimethylbenzanthracene-induced and mouse mammary tumor virus-induced mammary tumors. (shengsci.com)

Programs also support the development of novel cell-based therapies to bring the expertise of transfusion medicine and stem cell technology to the repair and regeneration of human tissues and organs. (hhs.gov)
The blood-brain barrier (BBB) and the blood-spinal cord barrier (BSCB) are responsible for controlling the microenvironment within neural tissues in humans. (hindawi.com)

Epigenetic modifications and chromosome conformations of the beta globin locus throughout development. (uci.edu)

Genetic diversity across different human populations can enhance understanding of the genetic basis of disease. (prolekarniky.cz)

Structural organization of the human prostaglandin EP3 receptor subtype gene (PTGER3). (shengsci.com)
We report here the structural organization of the human EP3 gene (PTGER3). (shengsci.com)
Structural characterization of amyloid fibrils from the human parathyroid hormone. (univ-paris5.fr)

Anatomy2

Organisms1

Diseases4

Chemicals and Drugs24

Analytical, Diagnostic and Therapeutic Techniques and Equipment3

Phenomena and Processes10

Information Science3

Genes17

Alpha-globin locus1

Rabbit beta-globin2

Chromosome 111

Hemoglobin17

Erythroid Cells2

Embryonic1

Phenotype3

Mutations5

Genome9

Promoter4

Valine at position2

Chromatin1

Protein6

Enhancer2

Codon2

Chains4

Expression4

Cluster1

Mammalian1

Alleles2

Thalassemia5

Susceptibility2

Sickle cell di2

Pancreatic2

Haemoglobin1

Functional1

Hemoglobins2

Sequence3

Substitution1

Histone1

Hematopoietic1

Endogenous1

Region1

Molecular genetics1

Developmental1

Vivo1

Cells1

Gamma2

Amino acid1

Found2

Tissues2

Conformations1

Genetic basis1

Structural3