Globins. Medical search

A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure.

A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains. There are several genetic types with clinical pictures ranging from barely detectable hematologic abnormality to severe and fatal anemia.

Immature ERYTHROCYTES. In humans, these are ERYTHROID CELLS that have just undergone extrusion of their CELL NUCLEUS. They still contain some organelles that gradually decrease in number as the cells mature. RIBOSOMES are last to disappear. Certain staining techniques cause components of the ribosomes to precipitate into characteristic "reticulum" (not the same as the ENDOPLASMIC RETICULUM), hence the name reticulocytes.

A myeloproliferative disorder characterized by neoplastic proliferation of erythroblastic and myeloblastic elements with atypical erythroblasts and myeloblasts in the peripheral blood.

Members of the alpha-globin family. In humans, they are encoded in a gene cluster on CHROMOSOME 16. They include zeta-globin and alpha-globin. There are also pseudogenes of zeta (theta-zeta) and alpha (theta-alpha) in the cluster. Adult HEMOGLOBIN is comprised of 2 alpha-globin chains and 2 beta-globin chains.

Members of the beta-globin family. In humans, they are encoded in a gene cluster on CHROMOSOME 11. They include epsilon-globin, gamma-globin, delta-globin and beta-globin. There is also a pseudogene of beta (theta-beta) in the gene cluster. Adult HEMOGLOBIN is comprised of two ALPHA-GLOBIN chains and two beta-globin chains.

The oxygen-carrying proteins of ERYTHROCYTES. They are found in all vertebrates and some invertebrates. The number of globin subunits in the hemoglobin quaternary structure differs between species. Structures range from monomeric to a variety of multimeric arrangements.

A regulatory region first identified in the human beta-globin locus but subsequently found in other loci. The region is believed to regulate GENETIC TRANSCRIPTION by opening and remodeling CHROMATIN structure. It may also have enhancer activity.

Genes that cause the epigenotype (i.e., the interrelated developmental pathways through which the adult organism is realized) to switch to an alternate cell lineage-related pathway. Switch complexes control the expression of normal functional development as well as oncogenic transformation.

Chloro(7,12-diethenyl-3,8,13,17-tetramethyl-21H,23H-porphine-2,18-dipropanoato(4-)-N(21),N(22),N(23),N(24)) ferrate(2-) dihydrogen.

RNA sequences that serve as templates for protein synthesis. Bacterial mRNAs are generally primary transcripts in that they do not require post-transcriptional processing. Eukaryotic mRNA is synthesized in the nucleus and must be exported to the cytoplasm for translation. Most eukaryotic mRNAs have a sequence of polyadenylic acid at the 3' end, referred to as the poly(A) tail. The function of this tail is not known for certain, but it may play a role in the export of mature mRNA from the nucleus as well as in helping stabilize some mRNA molecules by retarding their degradation in the cytoplasm.

A group of inherited disorders characterized by structural alterations within the hemoglobin molecule.

The production of red blood cells (ERYTHROCYTES). In humans, erythrocytes are produced by the YOLK SAC in the first trimester; by the liver in the second trimester; by the BONE MARROW in the third trimester and after birth. In normal individuals, the erythrocyte count in the peripheral blood remains relatively constant implying a balance between the rate of erythrocyte production and rate of destruction.

A category of nucleic acid sequences that function as units of heredity and which code for the basic instructions for the development, reproduction, and maintenance of organisms.

A disorder characterized by reduced synthesis of the beta chains of hemoglobin. There is retardation of hemoglobin A synthesis in the heterozygous form (thalassemia minor), which is asymptomatic, while in the homozygous form (thalassemia major, Cooley's anemia, Mediterranean anemia, erythroblastic anemia), which can result in severe complications and even death, hemoglobin A synthesis is absent.

The series of cells in the red blood cell lineage at various stages of differentiation.

Widely used technique which exploits the ability of complementary sequences in single-stranded DNAs or RNAs to pair with each other to form a double helix. Hybridization can take place between two complimentary DNA sequences, between a single-stranded DNA and a complementary RNA, or between two RNA sequences. The technique is used to detect and isolate specific sequences, measure homology, or define other characteristics of one or both strands. (Kendrew, Encyclopedia of Molecular Biology, 1994, p503)

Immature, nucleated ERYTHROCYTES occupying the stage of ERYTHROPOIESIS that follows formation of ERYTHROID PRECURSOR CELLS and precedes formation of RETICULOCYTES. The normal series is called normoblasts. Cells called MEGALOBLASTS are a pathologic series of erythroblasts.

The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence.

Members of the beta-globin family. In humans, two non-allelic types of gamma-globin - A gamma and G gamma are encoded in the beta-globin gene cluster on CHROMOSOME 11. Two gamma-globin chains combine with two ZETA-GLOBIN chains to form the embryonic hemoglobin Portland. Fetal HEMOGLOBIN F is formed from two gamma-globin chains combined with two ALPHA-GLOBIN chains.

Red blood cells. Mature erythrocytes are non-nucleated, biconcave disks containing HEMOGLOBIN whose function is to transport OXYGEN.

The cells in the erythroid series derived from MYELOID PROGENITOR CELLS or from the bi-potential MEGAKARYOCYTE-ERYTHROID PROGENITOR CELLS which eventually give rise to mature RED BLOOD CELLS. The erythroid progenitor cells develop in two phases: erythroid burst-forming units (BFU-E) followed by erythroid colony-forming units (CFU-E); BFU-E differentiate into CFU-E on stimulation by ERYTHROPOIETIN, and then further differentiate into ERYTHROBLASTS when stimulated by other factors.

The biosynthesis of PEPTIDES and PROTEINS on RIBOSOMES, directed by MESSENGER RNA, via TRANSFER RNA that is charged with standard proteinogenic AMINO ACIDS.

Normal adult human hemoglobin. The globin moiety consists of two alpha and two beta chains.

A family of hemoglobin-like proteins found in BACTERIA; PLANTS; and unicellular eukaryotes. Truncated hemoglobins are distantly related to vertebrate hemoglobins and are typically shorter than vertebrate hemoglobins by 20-40 residues.

A tissue-specific subunit of NF-E2 transcription factor that interacts with small MAF PROTEINS to regulate gene expression. P45 NF-E2 protein is expressed primarily in MEGAKARYOCYTES; ERYTHROID CELLS; and MAST CELLS.

A disorder characterized by reduced synthesis of the alpha chains of hemoglobin. The severity of this condition can vary from mild anemia to death, depending on the number of genes deleted.

The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.

The color-furnishing portion of hemoglobin. It is found free in tissues and as the prosthetic group in many hemeproteins.

A basic-leucine zipper transcription factor that regulates GLOBIN gene expression and is related to TRANSCRIPTION FACTOR AP-1. NF-E2 consists of a small MAF protein subunit and a tissue-restricted 45 kDa subunit.

A group of transcription factors that were originally described as being specific to ERYTHROID CELLS.

Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories.

A highly polar organic liquid, that is used widely as a chemical solvent. Because of its ability to penetrate biological membranes, it is used as a vehicle for topical application of pharmaceuticals. It is also used to protect tissue during CRYOPRESERVATION. Dimethyl sulfoxide shows a range of pharmacological activity including analgesia and anti-inflammation.

Enzymes that are part of the restriction-modification systems. They catalyze the endonucleolytic cleavage of DNA sequences which lack the species-specific methylation pattern in the host cell's DNA. Cleavage yields random or specific double-stranded fragments with terminal 5'-phosphates. The function of restriction enzymes is to destroy any foreign DNA that invades the host cell. Most have been studied in bacterial systems, but a few have been found in eukaryotic organisms. They are also used as tools for the systematic dissection and mapping of chromosomes, in the determination of base sequences of DNAs, and have made it possible to splice and recombine genes from one organism into the genome of another. EC 3.21.1.

A deoxyribonucleotide polymer that is the primary genetic material of all cells. Eukaryotic and prokaryotic organisms normally contain DNA in a double-stranded state, yet several important biological processes transiently involve single-stranded regions. DNA, which consists of a polysugar-phosphate backbone possessing projections of purines (adenine and guanine) and pyrimidines (thymine and cytosine), forms a double helix that is held together by hydrogen bonds between these purines and pyrimidines (adenine to thymine and guanine to cytosine).

A disease characterized by chronic hemolytic anemia, episodic painful crises, and pathologic involvement of many organs. It is the clinical expression of homozygosity for hemoglobin S.

An adult hemoglobin component normally present in hemolysates from human erythrocytes in concentrations of about 3%. The hemoglobin is composed of two alpha chains and two delta chains. The percentage of HbA2 varies in some hematologic disorders, but is about double in beta-thalassemia.

Any of the processes by which nuclear, cytoplasmic, or intercellular factors influence the differential control (induction or repression) of gene action at the level of transcription or translation.

Chromosomes in which fragments of exogenous DNA ranging in length up to several hundred kilobase pairs have been cloned into yeast through ligation to vector sequences. These artificial chromosomes are used extensively in molecular biology for the construction of comprehensive genomic libraries of higher organisms.

The species Oryctolagus cuniculus, in the family Leporidae, order LAGOMORPHA. Rabbits are born in burrows, furless, and with eyes and ears closed. In contrast with HARES, rabbits have 22 chromosome pairs.

A fractionated cell extract that maintains a biological function. A subcellular fraction isolated by ultracentrifugation or other separation techniques must first be isolated so that a process can be studied free from all of the complex side reactions that occur in a cell. The cell-free system is therefore widely used in cell biology. (From Alberts et al., Molecular Biology of the Cell, 2d ed, p166)

A class of marine annelids including sandworms, tube worms, clamworms, and fire worms. It includes also the genus Myxicola infundibulum.

An abnormal hemoglobin composed of four beta chains. It is caused by the reduced synthesis of the alpha chain. This abnormality results in ALPHA-THALASSEMIA.

A GATA transcription factor that is specifically expressed in hematopoietic lineages and plays an important role in the CELL DIFFERENTIATION of ERYTHROID CELLS and MEGAKARYOCYTES.

An abnormal hemoglobin that results from the substitution of lysine for glutamic acid at position 26 of the beta chain. It is most frequently observed in southeast Asian populations.

A set of genes descended by duplication and variation from some ancestral gene. Such genes may be clustered together on the same chromosome or dispersed on different chromosomes. Examples of multigene families include those that encode the hemoglobins, immunoglobulins, histocompatibility antigens, actins, tubulins, keratins, collagens, heat shock proteins, salivary glue proteins, chorion proteins, cuticle proteins, yolk proteins, and phaseolins, as well as histones, ribosomal RNA, and transfer RNA genes. The latter three are examples of reiterated genes, where hundreds of identical genes are present in a tandem array. (King & Stanfield, A Dictionary of Genetics, 4th ed)

An enzyme capable of hydrolyzing highly polymerized DNA by splitting phosphodiester linkages, preferentially adjacent to a pyrimidine nucleotide. This catalyzes endonucleolytic cleavage of DNA yielding 5'-phosphodi- and oligonucleotide end-products. The enzyme has a preference for double-stranded DNA.

An abnormal hemoglobin resulting from the substitution of valine for glutamic acid at position 6 of the beta chain of the globin moiety. The heterozygous state results in sickle cell trait, the homozygous in sickle cell anemia.

A conjugated protein which is the oxygen-transporting pigment of muscle. It is made up of one globin polypeptide chain and one heme group.

A group of adenine ribonucleotides in which the phosphate residues of each adenine ribonucleotide act as bridges in forming diester linkages between the ribose moieties.

An ERYTHROLEUKEMIA cell line derived from a CHRONIC MYELOID LEUKEMIA patient in BLAST CRISIS.

Any cell, other than a ZYGOTE, that contains elements (such as NUCLEI and CYTOPLASM) from two or more different cells, usually produced by artificial CELL FUSION.

Leukemia induced experimentally in animals by exposure to leukemogenic agents, such as VIRUSES; RADIATION; or by TRANSPLANTATION of leukemic tissues.

The order of amino acids as they occur in a polypeptide chain. This is referred to as the primary structure of proteins. It is of fundamental importance in determining PROTEIN CONFORMATION.

Deletion of a region that is a candidate for the difference between the deletion forms of hereditary persistence of fetal hemoglobin and deltabeta-thalassemia affects beta- but not gamma-globin gene expression. (1/3761)

The analysis of a number of cases of beta-globin thalassemia and hereditary persistence of fetal hemoglobin (HPFH) due to large deletions in the beta-globin locus has led to the identification of several DNA elements that have been implicated in the switch from human fetal gamma- to adult beta-globin gene expression. We have tested this hypothesis for an element that covers the minimal distance between the thalassemia and HPFH deletions and is thought to be responsible for the difference between a deletion HPFH and deltabeta-thalassemia, located 5' of the delta-globin gene. This element has been deleted from a yeast artificial chromosome (YAC) containing the complete human beta-globin locus. Analysis of this modified YAC in transgenic mice shows that early embryonic expression is unaffected, but in the fetal liver it is subject to position effects. In addition, the efficiency of transcription of the beta-globin gene is decreased, but the developmental silencing of the gamma-globin genes is unaffected by the deletion. These results show that the deleted element is involved in the activation of the beta-globin gene perhaps through the loss of a structural function required for gene activation by long-range interactions. (+info)

The splicing factor-associated protein, p32, regulates RNA splicing by inhibiting ASF/SF2 RNA binding and phosphorylation. (2/3761)

The cellular protein p32 was isolated originally as a protein tightly associated with the essential splicing factor ASF/SF2 during its purification from HeLa cells. ASF/SF2 is a member of the SR family of splicing factors, which stimulate constitutive splicing and regulate alternative RNA splicing in a positive or negative fashion, depending on where on the pre-mRNA they bind. Here we present evidence that p32 interacts with ASF/SF2 and SRp30c, another member of the SR protein family. We further show that p32 inhibits ASF/SF2 function as both a splicing enhancer and splicing repressor protein by preventing stable ASF/SF2 interaction with RNA, but p32 does not block SRp30c function. ASF/SF2 is highly phosphorylated in vivo, a modification required for stable RNA binding and protein-protein interaction during spliceosome formation, and this phosphorylation, either through HeLa nuclear extracts or through specific SR protein kinases, is inhibited by p32. Our results suggest that p32 functions as an ASF/SF2 inhibitory factor, regulating ASF/SF2 RNA binding and phosphorylation. These findings place p32 into a new group of proteins that control RNA splicing by sequestering an essential RNA splicing factor into an inhibitory complex. (+info)

Substrate specificities of SR proteins in constitutive splicing are determined by their RNA recognition motifs and composite pre-mRNA exonic elements. (3/3761)

We report striking differences in the substrate specificities of two human SR proteins, SF2/ASF and SC35, in constitutive splicing. beta-Globin pre-mRNA (exons 1 and 2) is spliced indiscriminately with either SR protein. Human immunodeficiency virus tat pre-mRNA (exons 2 and 3) and immunoglobulin mu-chain (IgM) pre-mRNA (exons C3 and C4) are preferentially spliced with SF2/ASF and SC35, respectively. Using in vitro splicing with mutated or chimeric derivatives of the tat and IgM pre-mRNAs, we defined specific combinations of segments in the downstream exons, which mediate either positive or negative effects to confer SR protein specificity. A series of recombinant chimeric proteins consisting of domains of SF2/ASF and SC35 in various combinations was used to localize trans-acting domains responsible for substrate specificity. The RS domains of SF2/ASF and SC35 can be exchanged without effect on substrate specificity. The RNA recognition motifs (RRMs) of SF2/ASF are active only in the context of a two-RRM structure, and RRM2 has a dominant role in substrate specificity. In contrast, the single RRM of SC35 can function alone, but its substrate specificity can be influenced by the presence of an additional RRM. The RRMs behave as modules that, when present in different combinations, can have positive, neutral, or negative effects on splicing, depending upon the specific substrate. We conclude that SR protein-specific recognition of specific positive and negative pre-mRNA exonic elements via one or more RRMs is a crucial determinant of the substrate specificity of SR proteins in constitutive splicing. (+info)

A new alkali-resistant hemoglobin alpha2J Oxford gammaF2 in a Sicilian baby girl with homozygous beta0 thalassemia. (4/3761)

A 10-mo-old baby girl with homozygous beta0 thalassemia and alphaJOxford, presenting the clinical picture of homozygous beta thalassemia is described. Hemoglobin electrophoresis showed three bands: the first two with the mobilities of hemoglobin Hb A2 (1%) and Hb F (69%), respectively, the third migrating a little faster than Hb A (30%). About 30% of her alpha chains were J Oxford which, bound to her gamma chains, produced a new alkali-resistant hemoglobin, alpha2 J Oxford gamma F2, which has not been described previously. Hemoglobin synthesis in vitro showed the absence of beta chain synthesis and an alpha/non-alpha ratio of 2. The patient's father was heterozygous for both the Hb J Oxford and beta0 thalassemia genes, the mother a carrier of beta0 thalassemia; four other relatives were carriers of Hb J Oxford, and one was a carrier of beta thalassemia. (+info)

The identification of ferritin in the nucleus of K562 cells, and investigation of a possible role in the transcriptional regulation of adult beta-globin gene expression. (5/3761)

We studied the subcellular distribution of ferritin in K562 cells by immunofluorescence techniques and have made a reappraisal of a direct binding interaction between ferritin and the proximal promoter region of the human beta-globin gene, as previously mentioned in the literature. Confocal microscopy indicates that ferritin, the iron-storage protein, is present in the nucleus of K562 cells, in addition to its expected cytoplasmic localisation. The stain distribution suggests that it is not directly associated with the nuclear matrix. Using a gel mobility shift assay, a protein that cross-reacts with monoclonal ferritin antibodies competitively binds to a double-stranded oligonucleotide spanning the region situated 150 base pairs upstream from the beta-globin transcription start site. Despite this antibody cross-reactivity, the protein is unlike cytosolic ferritin as it appears to be highly sensitive to both temperature and freeze-thaw cycles, and UV-crosslinking experiments indicate that the molecular mass of the protein factor lies between 90 and 100 kDa. In conclusion, while the intranuclear location of ferritin is described in the present study, ferritin is not in direct contact with the beta-globin promoter region. (+info)

Pre-mRNA splicing of IgM exons M1 and M2 is directed by a juxtaposed splicing enhancer and inhibitor. (6/3761)

Splicing of certain pre-mRNA introns is dependent on an enhancer element, which is typically purine-rich. It is generally thought that enhancers increase the use of suboptimal splicing signals, and one specific proposal is that enhancers stabilize binding of U2AF65 to weak polypyrimidine (Py) tracts. Here, we test this model using an IgM pre-mRNA substrate, which contains a well-characterized enhancer. Although the enhancer was required for in vitro splicing, we found it had no effect on U2AF65 binding. Unexpectedly, replacement of the natural IgM Py tract, branchpoint, and 5' splice site with consensus splicing signals did not circumvent the enhancer requirement. These observations led us to identify a novel regulatory element within the IgM M2 exon that acts as a splicing inhibitor; removal of the inhibitor enabled splicing to occur in the absence of the enhancer. The IgM M2 splicing inhibitor is evolutionarily conserved, can inhibit the activity of an unrelated, constitutively spliced pre-mRNA, and acts by repressing splicing complex assembly. Interestingly, the inhibitor itself forms an ATP-dependent complex that contains U2 snRNP. We conclude that splicing of IgM exons M1 and M2 is directed by two juxtaposed regulatory elements-an enhancer and an inhibitor-and that a primary function of the enhancer is to counteract the inhibitor. (+info)

Identification of heparin-binding EGF-like growth factor as a target in intercellular regulation of epidermal basal cell growth by suprabasal retinoic acid receptors. (7/3761)

The role of retinoic acid receptors (RARs) in intercellular regulation of cell growth was assessed by targeting a dominant-negative RARalpha mutant (dnRARalpha) to differentiated suprabasal cells of mouse epidermis. dnRARalpha lacks transcriptional activation but not DNA-binding and receptor dimerization functions. Analysis of transgenic mice revealed that dnRARalpha dose-dependently impaired induction of basal cell proliferation and epidermal hyperplasia by all-trans RA (tRA). dnRARalpha formed heterodimers with endogenous retinoid X receptor-alpha (RXRalpha) over RA response elements in competition with remaining endogenous RARgamma-RXRalpha heterodimers, and dose-dependently impaired retinoid-dependent gene transcription. To identify genes regulated by retinoid receptors and involved in cell growth control, we analyzed the retinoid effects on expression of the epidermal growth factor (EGF) receptor, EGF, transforming growth factor-alpha, heparin-binding EGF-like growth factor (HB-EGF) and amphiregulin genes. In normal epidermis, tRA rapidly and selectively induced expression of HB-EGF but not the others. This induction occurred exclusively in suprabasal cells. In transgenic epidermis, dnRARalpha dose-dependently inhibited tRA induction of suprabasal HB-EGF and subsequent basal cell hyperproliferation. Together, our observations suggest that retinoid receptor heterodimers located in differentiated suprabasal cells mediate retinoid induction of HB-EGF, which in turn stimulates basal cell growth via intercellular signaling. These events may underlie retinoid action in epidermal regeneration during wound healing. (+info)

Intronless mRNA transport elements may affect multiple steps of pre-mRNA processing. (8/3761)

We have reported recently that a small element within the mouse histone H2a-coding region permits efficient cytoplasmic accumulation of intronless beta-globin cDNA transcripts. This sequence lowers the levels of spliced products from intron-containing constructs and can functionally replace Rev and the Rev-responsive element (RRE) in the nuclear export of unspliced HIV-1-related mRNAs. In work reported here, we further investigate the molecular mechanisms by which this element might work. We demonstrate here through both in vivo and in vitro assays that, in addition to promoting mRNA nuclear export, this element acts as a polyadenylation enhancer and as a potent inhibitor of splicing. Surprisingly, two other described intronless mRNA transport elements (from the herpes simplex virus thymidine kinase gene and hepatitis B virus) appear to function in a similar manner. These findings prompt us to suggest that a general feature of intronless mRNA transport elements might be a collection of phenotypes, including the inhibition of splicing and the enhancement of both polyadenylation and mRNA export. (+info)

... heme/globin-containing molecules (even monomeric globin ones) that deal with gas-binding are referred to as oxyhemoglobins. In ... "Globin Gene Server. Pennsylvania State University. Retrieved 2008-10-12.. *^ Kikuchi, G.; Yoshida, T.; Noguchi, M. (2005). " ... The name hemoglobin is derived from the words heme and globin, reflecting the fact that each subunit of hemoglobin is a ... Such a name is given because this arrangement is the same folding motif used in other heme/globin proteins such as myoglobin.[ ...

https://en.wikipedia.org/wiki/Hemoglobin_deficiency

Many animals have as many or more CYP genes than humans do. Reported numbers range from 35 genes in the sponge Amphimedon queenslandica to 235 genes in the cephalochordate Branchiostoma floridae.[30] Mice have genes for 101 CYPs, and sea urchins have even more (perhaps as many as 120 genes).[31] Most CYP enzymes are presumed to have monooxygenase activity, as is the case for most mammalian CYPs that have been investigated (except for, e.g., CYP19 and CYP5). Gene and genome sequencing is far outpacing biochemical characterization of enzymatic function, though many genes with close homology to CYPs with known function have been found, giving clues to their functionality. The classes of CYPs most often investigated in non-human animals are those either involved in development (e.g., retinoic acid or hormone metabolism) or involved in the metabolism of toxic compounds (such as heterocyclic amines or polyaromatic hydrocarbons). Often there are differences in gene regulation or enzyme function of CYPs ...

https://en.wikipedia.org/wiki/CYP450

Laboratory results may differ depending on the analytical technique, the age of the subject, and biological variation among individuals. Higher levels of HbA1c are found in people with persistently elevated blood sugar, as in diabetes mellitus. While diabetic patient treatment goals vary, many include a target range of HbA1c values. A diabetic person with good glucose control has a HbA1c level that is close to or within the reference range. The International Diabetes Federation and the American College of Endocrinology recommend HbA1c values below 48 mmol/mol (6.5 DCCT %), while the American Diabetes Association recommends HbA1c be below 53 mmol/mol (7.0 DCCT %) for most patients.[24] Recent results from large trials suggest that a target below 53 mmol/mol (7 DCCT %) for older adults with type 2 diabetes may be excessive: Below 53 mmol/mol (7 DCCT %) the health benefits of reduced A1C become smaller, and the intensive glycemic control required to reach this level leads to an increased rate of ...

https://en.wikipedia.org/wiki/Hemoglobin_A1C

The order of the genes in the beta-globin cluster is: 5' - epsilon - gamma-G - gamma-A - delta - beta - 3'.[4] ... 1977). "Human beta-globin messenger RNA. I. Nucleotide sequences derived from complementary RNA". J. Biol. Chem. 252 (14): 5019 ... The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains ... 1993). "Normal delta-globin gene sequences in Sardinian nondeletional delta beta-thalassemia". Hemoglobin. 16 (6): 503-9. doi: ...

https://en.wikipedia.org/wiki/HBG1

... belongs to the globin superfamily of proteins, and as with other globins, consists of eight alpha helices connected ... Wu G, Wainwright LM, Poole RK (2003). Microbial globins. Advances in Microbial Physiology. 47. pp. 255-310. doi:10.1016/S0065- ...

https://en.wikipedia.org/wiki/Myoglobin

Globin synthesis defect *sickle cell disease. *Alpha-thalassemia, e.g. HbH disease ...

https://en.wikipedia.org/wiki/Neonatal_jaundice

Beta thalassaemia (β-globin). *Hurler syndrome. *Dravet Syndrome. Ataluren (previously PTC124) is a pharmaceutical drug that ...

https://en.wikipedia.org/wiki/Nonsense_mutation

... heme/globin-containing molecules (even monomeric globin ones) that deal with gas-binding are referred to as oxyhemoglobins. In ... Nitric oxide can also be transported by hemoglobin; it is bound to specific thiol groups in the globin protein to form an S- ... NO binds reversibly to a specific cysteine residue in globin; the binding depends on the state (R or T) of the hemoglobin. The ... Such a name is given because this arrangement is the same folding motif used in other heme/globin proteins such as myoglobin. ...

https://en.wikipedia.org/wiki/Hemoglobin

... and his inquisitive and mischievous friend Globin. They carry oxygen bubbles or carbon dioxide bubbles in a back pouch, ... Plasmus and Globina for Hemo and Globin, Corpo for Jumbo; Toxicus, Germus and Infectius for the bacterium characters; Virulus ...

https://en.wikipedia.org/wiki/Once_Upon_a_Time..._Life

"N-Baltimore.html". globin.bx.psu.edu. Retrieved 2017-03-30. "Medical Archives - Personal Paper Collections: The C. Lockard ...

https://en.wikipedia.org/wiki/Hemoglobin_Hopkins-2

An increased plasma transferrin level is often seen in patients suffering from iron deficiency anemia, during pregnancy, and with the use of oral contraceptives, reflecting an increase in transferrin protein expression. When plasma transferrin levels rise, there is a reciprocal decrease in percent transferrin iron saturation, and a corresponding increase in total iron binding capacity in iron deficient states[14] A decreased plasma transferrin can occur in iron overload diseases and protein malnutrition. An absence of transferrin results from a rare genetic disorder known as atransferrinemia, a condition characterized by anemia and hemosiderosis in the heart and liver that leads to heart failure and many other complications. Transferrin and its receptor have been shown to diminish tumour cells when the receptor is used to attract antibodies.[9] ...

https://en.wikipedia.org/wiki/Transferrin

An antibody (Ab), also known as an immunoglobulin (Ig),[1] is a large, Y-shaped protein produced mainly by plasma cells that is used by the immune system to neutralize pathogens such as pathogenic bacteria and viruses. The antibody recognizes a unique molecule of the pathogen, called an antigen, via the Fab's variable region.[2][3] Each tip of the "Y" of an antibody contains a paratope (analogous to a lock) that is specific for one particular epitope (similarly analogous to a key) on an antigen, allowing these two structures to bind together with precision. Using this binding mechanism, an antibody can tag a microbe or an infected cell for attack by other parts of the immune system, or can neutralize its target directly (for example, by blocking a part of a microbe that is essential for its invasion and survival). Depending on the antigen, the binding may impede the biological process causing the disease or may activate macrophages to destroy the foreign substance. The ability of an antibody to ...

https://en.wikipedia.org/wiki/Antibody

see also disorders of globin and globulin proteins. Retrieved from "https://en.wikipedia.org/w/index.php?title=Plasminogen_ ...

https://en.wikipedia.org/wiki/Plasminogen_activator_inhibitor-2

Normal range of human serum albumin in adults (, 3 y.o.) is 3.5 to 5 g/dL. For children less than three years of age, the normal range is broader, 2.9-5.5 g/dL.[9]. Low albumin (hypoalbuminemia) may be caused by liver disease, nephrotic syndrome, burns, protein-losing enteropathy, malabsorption, malnutrition, late pregnancy, artefact, genetic variations and malignancy.. High albumin (hyperalbuminemia) is almost always caused by dehydration. In some cases of retinol (Vitamin A) deficiency, the albumin level can be elevated to high-normal values (e.g., 4.9 g/dL). This is because retinol causes cells to swell with water (this is also the reason too much Vitamin A is toxic).[10] This swelling also likely occurs during treatment with 13-cis retinoic acid (isotretnoin), a pharmaceutical for treating severe acne, amongst other conditions. In lab experiments it has been shown that all-trans retinoic acid down regulates human albumin production[11]. ...

https://en.wikipedia.org/wiki/Albumins

1. Influence Of Dietary Lactalbumin Hydrolysate On The Immune System Of Mice And Resistance To Salmonellosis Bounous G., Stevenson M.M., Kongshavn P.A. J Infect Dis. Sep; 144(3) :281. (1981). In the present study we investigated the effect of four weeks of treatment with a diet containing lactalbumin hydrolysate (LAH: Nestlé, Vevey, Switzerland) on the immune response of C3H/HeN mice. Our data indicate that it was possible to increase the level of this type of protein in the diet above the minimum requirement (12% LAH) and thus produce augmented humoral immune responsiveness and resistance to salmonellosis. Lactalbumin = Whey Protein Concentrate. 2. Influence Of Dietary Proteins On The Immune System Of Mice Bounous G., Kongshavn P.A. J Nutr.Sep; 112(9) :1747-55 (1982). The effect of graded amounts of dietary laetalbumin (L) and casein (C) hydrolyzates on the immune responsiveness of C3H/HeN and DBA/2 strain mice has been investigated by measuring both the specific humoral immune response to ...

https://en.wikipedia.org/wiki/Lactalbumin

... (ORM) or alpha-1-acid glycoprotein (α1AGp,[1] AGP or AAG) is an acute phase (acute phase protein) plasma alpha-globulin glycoprotein and is modulated by two polymorphic genes. It is synthesized primarily in hepatocytes and has a normal plasma concentration between 0.6-1.2 mg/mL (1-3% plasma protein).[2] Plasma levels are affected by pregnancy, burns, certain drugs, and certain diseases, particularly HIV.[2] The only established function of ORM is to act as a carrier of basic and neutrally charged lipophilic compounds. In medicine, it is known as the primary carrier of basic (positively charged) drugs (whereas albumin carries acidic (negatively charged) and neutral drugs), steroids, and protease inhibitors.[2][3] Aging causes a small decrease in plasma albumin levels; if anything, there is a small increase in alpha-1-acid glycoprotein. The effect of these changes on drug protein binding and drug delivery, however, appear to be minimal.[4] AGP shows a complex interaction with thyroid ...

https://en.wikipedia.org/wiki/Orosomucoid

For example, the four families in the "globin-like" superfamily of the "globin-like" fold are truncated hemoglobin (lack the ... For example, the two superfamilies of the "Globin-like" fold are: the Globin superfamily and alpha-helical ferredoxin ... globins (Heme-binding protein), and phycocyanin-like phycobilisome proteins (oligomers of two different types of globin-like ... For example, the "globin-like" fold is described as core: 6 helices; folded leaf, partly opened. The fold to which a domain ...

https://en.wikipedia.org/wiki/Structural_Classification_of_Proteins

Table 1: α represents the presence of α-globin gene and- represents the deletion of α-globin gene. The chance of a fetus ... As a result, gamma chains will accumulate and form four gamma globins. These gamma globins bind to form hemoglobin Barts. It is ... three alpha globin gene deletions). Deletion of four alpha globin genes was previously felt to be incompatible with life, but ... As an embryo develops, it begins to produce alpha-globins at weeks 5-6 of development. When both of the HBA1 and HBA2 genes ...

https://en.wikipedia.org/wiki/Hemoglobin_Barts

... is a globin molecule ubiquitously expressed in all tissues and most notably utilized in marine mammals. It was ... Geuens E, Brouns I, Flamez D, Dewilde S, Timmermans JP, Moens L (Aug 2003). "A globin in the nucleus!". The Journal of ... Burmester T, Ebner B, Weich B, Hankeln T (Apr 2002). "Cytoglobin: a novel globin type ubiquitously expressed in vertebrate ... Burmester T, Ebner B, Weich B, Hankeln T (Apr 2002). "Cytoglobin: a novel globin type ubiquitously expressed in vertebrate ...

https://en.wikipedia.org/wiki/Cytoglobin

"Regulation of Globin Gene Expression". Cite journal requires ,journal= (help) "World Renowned Geneticist Richard Myers to Speak ... His team sought to understand globin gene expression, studying both cis- and trans-acting components that regulate ...

https://en.wikipedia.org/wiki/Richard_M._Myers

Marotta CA, Wilson JT, Forget BG, Weissman SM (July 1977). "Human beta-globin messenger RNA. III. Nucleotide sequences derived ... it was known that the disease was caused by a mutation in the β-globin gene. In 1977, in the third of a series of 3 research ...

https://en.wikipedia.org/wiki/Variant_of_uncertain_significance

Banerji J, Rusconi S, Schaffner W (December 1981). "Expression of a beta-globin gene is enhanced by remote SV40 DNA sequences ... Evans T, Felsenfeld G, Reitman M (1990). "Control of globin gene transcription". Annual Review of Cell Biology. 6: 95-124. doi: ... high-level expression of the human beta-globin gene in transgenic mice". Cell. 51 (6): 975-85. doi:10.1016/0092-8674(87)90584-8 ...

https://en.wikipedia.org/wiki/Super-enhancer

The red and blue ribbons represent the protein globin; the green structures are the heme groups. ...

https://en.wikipedia.org/wiki/Biochem

These globins reside inside a cell, much like the vertebrate Hb. Multi-subunit Hbs. These globins form complexes and work ... These globins form complexes, work outside a cell, and have multiple globin domains per peptide chain. Erythrocruorin and ... The isolation of the globin gene from plant root cells has suggested that the globin genes that were inherited from a common ... Globin enjoys a large biological distribution, not only occurring among more than 9 different phyla of animals but occurring in ...

https://en.wikipedia.org/wiki/Respiratory_pigment

Weatherall, D. J. (2015). "The Thalassemias: Disorders of Globin Synthesis". Williams Hematology (9e ed.). McGraw Hill ...

https://en.wikipedia.org/wiki/Genetic_disorder

The epsilon globin gene (HBE) is normally expressed in the embryonic yolk sac: two epsilon chains together with two zeta chains ... Tuan D, Solomon W, Li Q, London IM (1985). "The "beta-like-globin" gene domain in human erythroid cells". Proc. Natl. Acad. Sci ... The five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5' - epsilon - gamma- ... 1977). "Human beta-globin messenger RNA. I. Nucleotide sequences derived from complementary RNA". J. Biol. Chem. 252 (14): 5019 ...

https://en.wikipedia.org/wiki/HBE1

Villeponteau, B., Landes, G.M., Pankratz, M.J., and Martinson, H.G. (1982). The chicken beta globin gene region. Delineation of ... Lois, R., Freeman, L., Villeponteau, B., and Martinson, H.G. (1990). Active beta-globin gene transcription occurs in methylated ... Villeponteau, B., and Martinson, H.G. (1981). Isolation and characterization of the complete chicken beta-globin gene region: ... where he carried out genomic cloning of the B-globin gene cluster in Chickens.... He continued in the same department for six ...

https://en.wikipedia.org/wiki/Bryant_Villeponteau

The technology is based on delivery of a lentiviral vector carrying both the human β-globin gene and an ankyrin insulator to ... This test is used to investigate deletions and mutations in the alpha- and beta-globin-producing genes. Family studies can be ... Mutations are characterized as (βo) if they prevent any formation of β globin chains, mutations are characterized as (β+) if ... Most often, mutations occur in the promoter regions preceding the beta-globin genes. Less often, abnormal splice variants are ...

https://en.wikipedia.org/wiki/Beta_thalassemia

... production of the β-globin chain is affected. The β-globin chains are encoded by a single gene on chromosome 11; α-globin ... The severity of alpha and beta thalassemia depends on how many of the four genes for alpha globin or two genes for beta globin ... HbF induction is an attempt to reactivate fetal globin gene transcription. Efforts involve trying to disrupt the fetal globin ... Alpha-thalassemias result in decreased alpha-globin production; therefore, fewer alpha-globin chains are produced, resulting in ...

https://en.wikipedia.org/wiki/Thalassemia

biochemistry) Any globular protein that incorporates a globin fold. *(biochemistry) One of several polypeptides that are the ... Retrieved from "https://en.wiktionary.org/w/index.php?title=globin&oldid=48058080" ...

https://en.wiktionary.org/wiki/globin

... beta-globin type is a condition that affects the function of red blood cells. Explore symptoms, inheritance, genetics of this ... HBB gene mutations that cause methemoglobinemia, beta-globin type change the structure of beta-globin and promote the heme iron ... This gene provides instructions for making a protein called beta-globin. Beta-globin is one of four components (subunits) that ... In adults, hemoglobin normally contains two subunits of beta-globin and two subunits of another protein called alpha-globin. ...

https://medlineplus.gov/genetics/condition/methemoglobinemia-beta-globin-type

Globin_like (cd01067). Accession cd01067 Integration. RsbS co-antagonist protein RsbRA N-terminal domain (IPR014792) Member ...

http://www.ebi.ac.uk/interpro/signature/cd01067

Eight globins are known to occur in vertebrates: androglobin, cytoglobin, globin E, globin X, globin Y, hemoglobin, myoglobin ... The globin fold is found in its namesake globin families as well as in phycocyanins. The globin fold was thus the first protein ... Globin E: a globin responsible for storing and delivering oxygen to the retina in birds Globin-coupled sensors: chimeric, with ... single-domain globins, and two types of chimeric globins, flavohaemoglobins and globin-coupled sensors. Bacteria have all three ...

https://en.wikipedia.org/wiki/Globin

Globin - The protein component of hemoglobi, is clearly explained in Medindia s glossary of medical terms ... Globin - Glossary. Written & Compiled by Medindia Content Team. Medically Reviewed by The Medindia Medical Review Team on May ...

https://www.medindia.net/glossary/globin.htm

Alteration of balanced expression of globin genes, which usually occurs due to damage to adult β-globin genes, leads to ... The phenomenon of stage-specific transcription of globin genes is referred to as globin gene switching. Mechanisms of ... HS4 core element of the human beta-globin locus control region is required for high-level globin gene expression in definitive ... The hematopoietic regulator TAL1 is required for chromatin looping between the beta-globin LCR and human gamma-globin genes to ...

https://link.springer.com/article/10.1134/S0006297918040090

MSKs innovative globin gene transfer therapy offers the potential to free patients from a lifetime of red blood cell ... which is believed to achieve better expression of β-globin on a per-copy basis, and therefore the potential for superior ... utilizing a lentiviral vector to stably insert a functional β-globin gene, and then infusing the patient with engineered HSCs ...

https://www.mskcc.org/research-advantage/support/technology/available/globin-gene-therapy

Belongs to the globin family.PROSITE-ProRule annotation. ,p>Manual validated information which has been generated by the ... sp,Q7SID0,GLBF1_EPTBU Globin-F1 OS=Eptatretus burgeri PE=1 SV=1 PIIDQGPLPTLTDGDKKAINKIWPKIYKEYEQYSLNILLRFLKCFPQAQASFPKFSTKKS ...

http://www.uniprot.org/uniprot/Q7SID0

Belongs to the globin family.PROSITE-ProRule annotation. ,p>Manual validated information which has been generated by the ... sp,P02207,GLB_LAMFL Globin OS=Lampetra fluviatilis OX=7748 PE=1 SV=2 ...

http://www.uniprot.org/uniprot/P02207

This locus contains not only the beta globin gene but also delta, gamma-A, gamma-G, and epsilon globin. Expression of all of ... The human β-globin locus is composed of five genes located on a short region of chromosome 11, responsible for the creation of ... The order of the genes in the beta-globin cluster is: 5 - epsilon - gamma-G - gamma-A - delta - beta - 3. The arrangement of ... Many CRMs have been mapped within the cluster of genes encoding β-like globins expressed in embryonic (HBE1), fetal (HBG1 and ...

https://en.wikipedia.org/wiki/Human_%CE%B2-globin_locus

Fine tuning of globin gene expression by DNA methylation.. Goren A1, Simchen G, Fibach E, Szabo PE, Tanimoto K, Chakalova L, ... γ/γ+β was calculated on the basis of total γ globin (γA+γG).. Results (average of 3 experiments) for real time PCR are included ... Levels of globin expression were obtained from dilution analysis and compared to Aprt (set to 1) in the same cells. Each ... Results for β globin are presented for comparison.. The data shown for non-erythroid cells was obtained using mononucleosomes ...

https://www.ncbi.nlm.nih.gov/pubmed/17183675?dopt=Abstract

... upstream of the epsilon-globin gene. Addition of these sites confers copy number dependent expression on the human beta-globin ... The beta-globin dominant control region: hypersensitive site 2.. Philipsen S1, Talbot D, Fraser P, Grosveld F. ... The Dominant Control Region (DCR) of the human beta-globin gene locus consists of four strong hypersensitive sites (HSS) ... The significance of these results for the regulation of globin gene expression is discussed. ...

https://www.ncbi.nlm.nih.gov/pubmed/2357964?dopt=Abstract

β-Globin Intergenic Transcription and Histone Acetylation Dependent on an Enhancer AeRi Kim, Hui Zhao, Ina Ifrim, Ann Dean ... Subcellular Transport of EKLF and Switch-On of Murine Adult βmaj Globin Gene Transcription Yu-Chiau Shyu, Tung-Liang Lee, Shau- ... GATA-1 Modulates the Chromatin Structure and Activity of the Chicken α-Globin 3′ Enhancer Martín Escamilla-Del-Arenal, Félix ... CpG Hypomethylation in a Large Domain Encompassing the Embryonic β-Like Globin Genes in Primitive Erythrocytes Mei Hsu, Rodwell ...

https://mcb.asm.org/keyword/globins

The mammalian beta-globin locus is a multigene locus containing several globin genes and a number of regulatory elements. ... The mammalian beta-globin locus is a multigene locus containing several globin genes and a number of regulatory elements. ... Joining the loops: beta-globin gene regulation IUBMB Life. 2008 Dec;60(12):824-33. doi: 10.1002/iub.129. ... The discovery of the LCR initially raised the question how this element could exert its effect on the downstream globin genes. ...

https://pubmed.ncbi.nlm.nih.gov/18767169/?ordinalpos=26&itool=Email.EmailReport.Pubmed_ReportSelector.Pubmed_RVDocSum

Roy J, Sen Santara S, Adhikari A, Mukherjee A, Adak S. Control of catalysis in globin coupled adenylate cyclase by a globin-B ... Delayed globin synthesis leads to excess heme and the macrocytic anemia of Diamond Blackfan anemia and del(5q) myelodysplastic ... "Globins" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical Subject Headings) ... A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME ...

https://connects.catalyst.harvard.edu/Profiles/display/Concept/Globins

Our dedicated kits are specifically designed for highly efficient rRNA removal and globin mRNA removal for a range of ... Ribosomal RNA and globin mRNA removal. Efficient ribosomal RNA and globin mRNA removal. To maximize your unique sequencing ... For rapid rRNA and/or globin mRNA removal for RNA-seq library preparation from human, mouse, rat and other mammalian samples ... Our dedicated kits are specifically designed for highly efficient rRNA removal and globin mRNA removal to suit your specific ...

https://www.qiagen.com/au/product-categories/next-generation-sequencing/rna-sequencing/ribosomal-rna-and-globin-mrna-removal/

Heme activates globin transcription and translation; therefore, heme synthesis must precede globin synthesis. As free heme is a ... before ample globin is produced. From the CFU-E/proerythroblast (CD71+ Ter119- cells) stage onward, erythroid progenitors ...

https://www.jci.org/articles/view/83054/figure/1

Incidence of methemoglobinemia in patients with hematologic malignancy or aplastic anemia who received dapsone prophylaxis through a retrospective chart review encompassing the last 15 ...

https://clinicaltrials.gov/ct2/results?cond=%22methemoglobinemia%2C+beta-globin+type%22+OR+%22methemoglobinemia%22&show_rss=Y&sel_rss=mod14

Hemoglobin-like proteins in bacteria Bacterial globins are proteins possessing the classical globin fold and the highly ... myoglobin-like globins (two- or single-domain proteins), sensor globins, and truncated globins. NO detoxification is a well- ... Globins are an ancient superfamily of diverse proteins (Vinogradov et al. 2006). The first report of a microbial globin was in ... Bacterial globins are proteins possessing the classical globin fold and the highly conserved active site residues required for ...

https://rd.springer.com/referenceworkentry/10.1007/978-3-642-35943-9_34-1

Globins. Lecture 10/01/2009. The Backbone structure of Myoglobin. 2. Myoglobin: 44 x 44 x 25 Å single subunit 153 amino acid ... Globins & Enzyme Catalysis -Globins & enzyme catalysis. 10/06/2009. the bohr effect. higher ph i.e. lower [h + ] promotes ... EVOLUTION OF GLOBINS -. evolution of globins evolution of visual pigments and related molecules. evolution of gene clusters. ... Globins & Enzyme Catalysis -. 10/06/2009. the bohr effect. higher ph i.e. lower [h + ] promotes tighter binding of oxygen to ...

https://www.slideserve.com/tosca/globins-1348492

... in which the globin has been obtained from whole blood by depigmentation in a medium tha ... globin that is insoluble at neutral pH, and therefore at physiological pH, ... Preparation of a Directly Sterile Globin Powder or Paste or Globin Based Material. The liquid or solid globin materials of ... a material that comprises globin that is insoluble at physiological pH and that also comprises globin that is soluble at ...

http://www.freepatentsonline.com/y2009/0074736.html

In addition, our findings provide a mechanism for understanding the high levels of γ-globin transcription seen in patients with ... demonstrate that DNA methylation serves as an elegant in vivo fine-tuning device for selecting appropriate genes in the globin ... Expression patterns in the globin gene cluster are subject to developmental regulation in vivo. While the γA and γG genes are ... Hereditary Persistence of Fetal Hemoglobin, and help explain why 5azaC and butyrate compounds stimulate γ-globin expression in ...

http://journals.plos.org/plosone/article/authors?id=10.1371/journal.pone.0000046

They include epsilon-globin, gamma-globin, delta-globin and beta-globin. There is also a pseudogene of beta (theta-beta) in the ... Adult HEMOGLOBIN is comprised of two ALPHA-GLOBIN chains and two beta-globin chains. ... Members of the beta-globin family. In humans, they are encoded in a gene cluster on CHROMOSOME 11. ... beta Globin; Non-alpha Globin Chain, Unspecified; Non alpha Globin Chain, Unspecified; beta Globins; beta-Globin ...

http://www.curehunter.com/public/keywordSummaryD055544-beta-Globins-beta-Globin.do

Depletes alpha and beta globin mRNA from blood total RNA with a simple magnetic bead procedure (no enzymatic treatments) ... GLOBINclear-Human Globin mRNA Removal Kit Depletes alpha and beta globin mRNA from blood total RNA with a simple magnetic bead ... Globin Transcript Removal Ambions GLOBINclear-Human Kit is designed to rapidly deplete alpha and beta globin mRNA from total ... GLOBINclear-Human Globin mRNA Removal Kit Depletes alpha and beta globin mRNA from blood total RNA with a simple magnetic bead ...

http://www.bio-medicine.org/biology-technology/Unmask-Blood-RNA-for-Gene-Expression-Profiling-1056-1/

Restriction fragment length polymorphism analysis of the beta-globin cluster of these … ... Association of thalassaemia intermedia with a beta-globin gene haplotype Br J Haematol. 1987 Mar;65(3):367-73. doi: 10.1111/j. ... This beta haplotype is linked to a DNA sequence variation 5 (at position -158) to the G gamma globin gene which can be ... beta-globin haplotype (-+-++), in contrast to 1/42 of the thalassaemia major patients. Furthermore, the -+-++ beta haplotype is ...

https://pubmed.ncbi.nlm.nih.gov/2436649/?dopt=Abstract

Ann Dean on The beta-globin locus, part of a collection of online lectures. ... Two so-called beta-like globin chains and two alpha-like globin chains. In each tetramer, the four globin chains are held ... and beta globin chains leads to anemia. How the alpha and beta globin genes achieve this balanced protein production is not ... The beta globin locus has long served as a major paradigm for studies of eukaryotic gene regulation and transcription. In ...

https://hstalks.com/t/673/the-beta-globin-locus/?biosci

Developmental specificity of recruitment of TBP to the TATA box of the human γ-globin gene. Zhi-Jun Duan, Xiangdong Fang, Alex ... The in vitro γ-globin gene expression depends upon an intact TATA box and recruitment of TBP. (A) The γTATA binds TBP, and the ... The initiation site of the mRNA transcribed from the TATA box-mutated γ-globin gene is shown in lane 2 (d10 yolk sac) and lane ... Recruitment of TBP, TFIIB, and Pol II in the transgenic mice carrying the TATA box-mutated γ-globin gene. The day-11 yolk sac ...

https://www.pnas.org/content/99/8/5509/tab-figures-data

Crystal structure of cytoglobin: the fourth globin type discovered in man displays heme hexa-coordination.. de Sanctis, D., ... The crystal structure of cytoglobin: the fourth globin type discovered in man. *DOI: 10.2210/pdb1UMO/pdb ... Cytoglobin is a recently discovered hemeprotein belonging to the globin superfamily together with hemoglobin, myoglobin and ... Cytoglobin is a recently discovered hemeprotein belonging to the globin superfamily together with hemoglobin, myoglobin and ...

https://www.rcsb.org/structure/1UMO

... Takaras Human Beta-globin Control Primer Set contains a set of PCR primers that ... The Human Beta-globin Control Primer Set may be used as a experimental control during protocols such as PCR. Primer Sequences. ... Beta-globin makes up about half of the human hemoglobin tertrameric protein; in the normal human adult, the hemoglobin tetramer ... Products , PCR , Pathogen_Detection_and_Screening_Kits , Human_Pathogen_Detection , Human_Beta-globin_Control_Primer_Set. ...

http://www.clontech.com/US/Products/PCR/Pathogen_Detection_and_Screening_Kits/Human_Pathogen_Detection/Human_Beta-globin_Control_Primer_Set

The alpha-globin genes are on chromosome 16, and the beta-globin genes are on chromosome 11. And even among the beta-globin ... Two are alpha-globins and two are beta-globins." (The proteins are named globins, I learned later, reading Goldstrohms thesis ... "If you look at contemporary humans," Hardison added, "we have several alpha-globin genes and several beta-globin genes. ... And, Hardison noted, "everyone who has a bad beta-globin gene also has a good fetal globin gene. ...

https://news.psu.edu/story/140824/1996/09/01/research/looking-globin-switch

The phenomenon of stage-specific transcription of globin genes is referred to as globin gene switching. (springer.com)
Mechanisms of expression switching, stage-specific activation, and repression of transcription of α- and β-globin genes are of interest from both theoretical and practical points of view. (springer.com)
Alteration of balanced expression of globin genes, which usually occurs due to damage to adult β-globin genes, leads to development of severe diseases-hemoglobinopathies. (springer.com)
In most cases, reactivation of the fetal hemoglobin gene in patients with β-thalassemia and sickle cell disease can reduce negative consequences of irreversible alterations of expression of the β-globin genes. (springer.com)
This review focuses on the current state of research on genetic and epigenetic mechanisms underlying stage-specific switching of β-globin genes. (springer.com)
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)
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)
These studies demonstrate that DNA methylation serves as an elegant in vivo fine-tuning device for selecting appropriate genes in the globin locus. (nih.gov)
Addition of these sites confers copy number dependent expression on the human beta-globin gene in murine erythroleukaemia cells and transgenic mice, at levels comparable with the endogenous mouse globin genes. (nih.gov)
The mammalian beta-globin locus is a multigene locus containing several globin genes and a number of regulatory elements. (nih.gov)
The most important regulatory element in the locus is the locus control region (LCR) upstream of the globin genes that is essential for high-level expression of these genes. (nih.gov)
The discovery of the LCR initially raised the question how this element could exert its effect on the downstream globin genes. (nih.gov)
The question was solved by the finding that the LCR and activate globin genes are in physical contact, forming a chromatin structure named the active chromatin hub (ACH). (nih.gov)
In adults, during the later stages of erythroid differentiation, the genes in both the alpha and beta globin loci are expressed at exceptionally high rates. (hstalks.com)
How the alpha and beta globin genes achieve this balanced protein production is not known. (hstalks.com)
If you look at contemporary humans," Hardison added, "we have several alpha-globin genes and several beta-globin genes. (psu.edu)
The alpha-globin genes are on chromosome 16, and the beta-globin genes are on chromosome 11. (psu.edu)
METHODS: Five polymorphic sites in the β-globin gene cluster were analyzed by polymerase chain reaction (PCR) followed by restriction digestion and agarose gel electrophoresis in a total of 100 patients, including 95 homozygous for HbS (sickle cell anemia) and 5 compound heterozygotes for HbS and HbC genes (HbSC disease). (biomedsearch.com)
Here we report a survey of nucleotide variation in the adult globin genes of house mice from South America. (genetics.org)
HEB, E2A and ETO-2 significantly interact with locus control region (LCR) and promoters of globin genes, and their relative ratio is altered during erythropoiesis. (umontreal.ca)
Strikingly and consistent with the expression of globin genes, we characterized transcription factors involved in open chromatin configuration and basal level of globin gene expression in lymphoid progenitor cells. (umontreal.ca)
Recent research confirms that the HBBP1 region of the 6-gene β-globulin cluster is highly non-variable compared to the other β-globin genes based on large-scale DNA diversity assessment within both humans and chimpanzees. (blogspot.com)
The most significant genetic factor in cis associated with high HbF is Xmn I polymorphism located at −158 upstream to the G γ globin genes [ 9 ]. (hindawi.com)
We have analyzed the nuclear positioning of the coordinately regulated α- and β-globin genes and show that the gene-dense chromatin surrounding the human α-globin genes is frequently decondensed, independent of transcription. (rupress.org)
Against this background, we show the frequent juxtaposition of active α- and β-globin genes and of homologous α-globin loci that occurs at nuclear speckles and correlates with transcription. (rupress.org)
The same degree of proximity does not occur between human β-globin genes or between murine globin genes, which are more constrained to their chromosome territories. (rupress.org)
Our findings suggest that the distribution of globin genes within erythroblast nuclei is the result of a self-organizing process, involving transcriptional status, diffusional ability of chromatin, and physical interactions with nuclear proteins, rather than a directed form of higher-order control. (rupress.org)
To address whether nuclear organization has a functional role, we have chosen to follow the behavior of the coregulated α- and β-globin genes in primary human erythroblasts during terminal erythroid differentiation ( Wickramasinghe, 1975 ). (rupress.org)
This balance is achieved despite the fact that the α- and β-globin genes lie on separate chromosomes and in very different chromatin contexts. (rupress.org)
The human β-globin gene cluster is located on chromosome 11 and encodes the five β-like globin genes: ɛ-, G γ-, A γ- δ-, and β-globin. (haematologica.org)
The vertebrate globin genes encoding the α- and β-subunits of the tetrameric hemoglobins are clustered at two unlinked loci. (bibsys.no)
The highly conserved linear order of the genes flanking the hemoglobins provides a strong anchor for inferring common ancestry of the globin clusters. (bibsys.no)
In fish, the number of α-β-linked globin genes varies considerably between different sublineages and seems to be related to prevailing physico-chemical conditions. (bibsys.no)
The Atlantic cod genome was shown to contain 14 globin genes, including nine hemoglobin genes organized in two unlinked clusters designated β5-α1-β1-α4 and β3-β4-α2-α3-β2. (bibsys.no)
In silico analysis of the six teleost genomes available showed that the two α-β globin clusters are flanked by paralogs of five duplicated genes, in agreement with the proposed teleost-specific duplication of the ancestral vertebrate globin cluster. (bibsys.no)
Screening the genome of extant urochordate and cephalochordate species for conserved globin-flanking genes revealed linkage of RHBDF1, MPG and ARHGAP17 to globin genes in the tunicate Ciona intestinalis, while these genes together with LCMT are closely positioned in amphioxus (Branchiostoma floridae), but seem to be unlinked to the multiple globin genes identified in this species. (bibsys.no)
The proximity of globin-flanking genes in the tunicate and amphioxus genomes resembles the RHBDF1-MPG-α-globin-ARHGAP17-LCMT linked genes in man and chicken. (bibsys.no)
To date only three duplication/inserts of more than 20 nucleotides have been described for the globin genes. (haematologica.org)
Restriction endonuclease mapping of cellular DNA has been used to identify chromosomes that carry the mutant Hb Presbyterian β-globin genes in a family with individuals heterozygous for this disease. (springer.com)
Jeffreys AJ (1979) DNA sequence variants in the G γ-, A γ-, δ and β-globin genes of man. (springer.com)
Phillips JA, Pawny SR, Kazazian HH Jr, Boehm CO, Scott AF, Smith KO (1980) Prenatal diagnosis of sickle cell anemia by restriction endonuclease analysis: Hind III polymorphisms in γ-globin genes extend test applicability. (springer.com)
Wilson JT, Wilson JB, DeRiel JK, Villa-Komaroff L, Efstratiadis A, Forget BG, Weissman SM (1978) Insertion of synthetic copies of human globin genes into bacterial plasmids. (springer.com)
This assay can be used instead of Southern Blot analysis to determine the total number of intact alpha globin genes. (specialtylabs.com)
Amongst the limitations they are faced with is the fact that human embryonic stem cells, due to their origin, produce reticulocytes expressing foetal rather than adult haemoglobin, caused by developmentally regulated genes at the β-globin locus. (gla.ac.uk)
This cluster consists of five β-like globin genes arranged sequentially in the order they are expressed during development. (gla.ac.uk)
Reticulocytes derived from cord blood haematopoietic stem cells or embryonic pluripotent stem cells primarily express the foetal γ- and embryonic ε-globin genes. (gla.ac.uk)
Here, we used the CRISPR/Cas9 system to create different deletions or mutations at the β-globin locus in K562 cells, a human erythroid cancer cell line which expresses embryonic and foetal globin genes. (gla.ac.uk)
Co-inheritance of the rare β hemoglobin variants Hb Yaounde, Hb Görwihl and Hb City of Hope with other alterations in globin genes: impact in genetic counseling. (semanticscholar.org)
Sjakste, T. 2004-10-13 00:00:00 The data on the structure of gene domains of both mammalian and avian α- and β-globin genes are reviewed. (deepdyve.com)
The avian β-globin genes are specifically arranged and their expression is less dependent from the locus control region. (deepdyve.com)
An unidentified housekeeping gene as well as some other transcripts not encoding the structural globin genes is transcribed in the direction opposite to that of the globin genes in both mammalian and avian domains. (deepdyve.com)
A phy¬logenetic survey of β -like globin genes in afrotherian and xenarthran mammals revealed that the origin of the chimeric β/δ fusion gene and the concomitant inactivation of the HBB gene predated the radiation of ''Paenungulata,'' a clade of afrotherian mammals that includes three orders: Proboscidea (elephants), Sirenia (dugongs and manatees), and Hyracoidea (hyraxes). (unl.edu)
In comparison with the homologous gene clusters in mammals, the low retention rate for lineage-specific gene duplicates in the avian globin gene clusters suggests that the developmental regulation of Hb synthesis in birds may be more highly conserved, with orthologous genes having similar stage-specific expression profiles and similar functional properties in disparate taxa. (unl.edu)
Haemoglobins were analysed by ion-exchange HPLC (Variant II) and capillary electrophoresis (Sebia Capillarys Flex) and DNA by automatic Sanger sequencing of δ-globin and β-globin genes. (bmj.com)
Concerted evolution of α globin genes in Podolian cattle (Bos taurus primigenius) and river buffalo (Bubalus bubalis)? (biochemsoctrans.org)
We address this issue by using as a highly informative system the duplicated alpha-globin genes in which ectopic recombination can lead to gene deletions, often very prevalent in populations affected by malaria, as well as reduplications. (le.ac.uk)
Our study demonstrates that CSDA acts as a repressor of gamma-globin genes in vivo and is a novel quantitative trait locus for HPFH. (unina.it)
G/Aγ, intergenic region between Gγ- and Aγ-globin genes. (nih.gov)
BACKGROUND: The genome of the nematode Caenorhabditis elegans contains more than 30 putative globin genes that all are transcribed. (inserm.fr)
The beta-like hemoglobins include the epsilon, gamma, beta, and delta globins, whose genes are present on chromosome 11 in a linked cluster (ie, the beta globin complex). (testcatalog.org)
The genes produce gamma globin chains that form tetramers with alpha globin chains to create fetal hemoglobin (Hb F). HBG1 and HBG2 differ only in which amino acid is located at position 136 (alanine or glycine). (testcatalog.org)
Additionally, some alterations in the promoter regions of the gamma globin genes are known to cause a form of hereditary persistence of fetal hemoglobin (HPFH), which is characterized by a significant but harmless elevation of Hb F into adulthood. (testcatalog.org)
We describe a family in which alpha-thalassemia occurs in association with a deletion of 62 kilobases from a region upstream of the alpha globin genes. (ox.ac.uk)
Hence hemoglobins and the globin genes encoding them have been an important system for investigating many biochemical and evolutionary issues. (semanticscholar.org)
Alpha thalassaemia and extended alpha globin genes in Sri Lanka. (ox.ac.uk)
The α-globin genes were studied in nine families with unexplained hypochromic anaemia and in 167 patients with HbE β thalassaemia in Sri Lanka. (ox.ac.uk)
The human γ-globin genes (both Aγ and Gγ-globin genes) carry three Oct-1 transcription factor consensus sequences within their promoter regions. (wayne.edu)
These results suggest that the decoy oligonucleotide designed for the Oct-1 transcription factor consensus sequence could induce expression of the endogenous γ-globin gene through competitive binding of the Oct-1 transcription factor, resulting in activation of the γ-globin genes. (wayne.edu)
Therefore, disrupting the bindings of the Oct-1 transcriptional factors with the decoy oligonucleotide provides a novel approach for inducing expression of the γ-globin genes. (wayne.edu)
In silico analysis of the genome of Caenorhabditis elegans revealed an unexpectedly high number of globin genes featuring a remarkable diversity in gene structure, amino acid sequence and expression profiles. (wayne.edu)
We also show that the Caenorhabditis globin genes are expressed in distinct, mostly non-overlapping, sets of cells and that they are all under strong purifying selection. (wayne.edu)
A duplication of an ancestral globin gene occurred before the divergence of the Platyhelminthes and the Nematoda and one of the duplicated genes radiated further in the nematode phylum before the split of the Spirurina and Rhabditina and was followed by further radiation in the lineage leading to Caenorhabditis. (wayne.edu)
The resulting globin genes were subject to processes of subfunctionalization and diversification leading to cell-specific expression patterns. (wayne.edu)
The existence of small "silent" deletions in the beta-globin gene cluster emphasizes the importance of deletion size in altering expression of the fetal globin genes. (ox.ac.uk)
Although several genomes of amoebozoan species have been sequenced, little is known about the phyletic distribution of globin genes within this phylum. (ijbs.com)
Only two flavohemoglobins (FHbs) of D. discoideum have been reported and characterized previously while the genomes of Entamoeba species are apparently devoid of globin genes. (ijbs.com)
We investigated eleven amoebozoan species for the presence of globin genes by genomic and phylogenetic in silico analyses. (ijbs.com)
Phylogenetic evidence suggests that these globin genes were independently acquired via horizontal gene transfer from some ancestral bacteria. (ijbs.com)

Our dedicated kits are specifically designed for highly efficient rRNA removal and globin mRNA removal to suit your specific applications. (qiagen.com)
One obstacle for expression profiling RNA from whole blood is the relatively high content of globin messenger RNA (mRNA) from immature red blood cells. (bio-medicine.org)
In fact, up to 70% of the mRNA mass is from globin transcripts. (bio-medicine.org)
Ambion's GLOBINclear-Human Kit is designed to rapidly deplete alpha and beta globin mRNA from total RNA preparations derived from human whole blood. (bio-medicine.org)
The kit employs a novel hybridization capture technology (see "Simple, Effective Globin mRNA Reduction Protocol" at right) that uses the power of biotin/streptavidin binding and the specificity of nucleic acid hybridization to effectively remove 9099.5% globin transcripts from blood total RNA (Figure 1). (bio-medicine.org)
To further test the specificity of globin mRNA reduction, synthetic globin transcripts were added to HeLa cell RNA, and samples were processed or left unprocessed with the GLOBINclear Kit (Figure 2). (bio-medicine.org)
Percent Present Calls for Samples Treated or Untreated with GLOBINclear-Human Globin mRNA Removal Kit. (bio-medicine.org)
Globin mRNA levels can vary among donors, which can unpredictably affect RNA amplification and array results and therefore, confound interpretations that are made when comparing different samples. (bio-medicine.org)
With the removal of globin transcripts, the enriched RNA samples become superior templates for RNA expression profiling because the presence of globin mRNA is no longer a factor in decreasing the sensitivity of gene detection on microarrays (Figure 2). (bio-medicine.org)
This kit was developed to reduce or eliminate the negative effects of globin mRNA on high density oligonucleotide expression profiling, and the resulting enriched RNA is compatible with the RiboPure-Blood Kit and the MessageAmp II aRNA Amplification System . (bio-medicine.org)
The GLOBINclear Kit contains enough reagents to deplete globin mRNA from 20 samples of total RNA derived from human whole blo od (110 g per sample). (bio-medicine.org)
The initiation site of the mRNA transcribed from the TATA box-mutated γ-globin gene is shown in lane 2 (d10 yolk sac) and lane 3 (adult blood). (pnas.org)
Beside producing abnormal variant, hemoglobin E (HbE), the G→A substitution in codon 26 (Glu→Lys) of the β -globin gene ( β E ) could also produce β + thalassemia due to decreased functional HbE-mRNA, secondary to alternative splicing mechanism [ 1 ]. (hindawi.com)
Contaminating DNA can cause inaccurate RNA quantification and impede proper globin mRNA and rRNA removal. (neb.com)
The Ambion® GLOBINclear™-Mouse/Rat Kit employs a novel, non-enzymatic technology that rapidly depletes >95% of the alpha and beta globin mRNA from total RNA preparations derived from whole blood. (thermofisher.com)
This band represents globin mRNA, which is expressed at high levels in red blood cells (RBCs) and reticulocytes (RBC precursors). (thermofisher.com)
Up to 70% of the mRNA (by mass) in whole blood total RNA are globin transcripts. (thermofisher.com)
There are no harsh RNase H enzymatic treatments that may compromise the expression profile by degrading mRNAs other than globin mRNA. (thermofisher.com)
This is the case of hydroxyurea (HU), it increases the total intracellular hemoglobin, γ-globin mRNA and Hb F levels. (scielo.br)
The repression of globin synthesis was not due to modifications of globin mRNA because the level of globin mRNA and its ability to be translated in vitro were unaffected. (asm.org)
In non-heat-shocked reticulocytes, HSP70 mRNA was a moderately abundant mRNA present at 1 to 2% of the level of globin mRNA. (asm.org)
Correct human β-globin mRNA has been restored in erythroid cells from transgenic mice carrying the human gene with β-globin IVS2-654 splice mutation and from thalassemia patients with the IVS2-654/β E genotype. (aspetjournals.org)
This was accomplished in a dose- and time-dependent manner by free uptake of morpholino oligonucleotide antisense to the aberrant splice site at position 652 of intron 2 in β-globin pre-mRNA. (aspetjournals.org)
Under optimal conditions of oligonucleotide uptake, the maximal levels of correct human β-globin mRNA and hemoglobin A in patients' erythroid cells were 77 and 54%, respectively. (aspetjournals.org)
Using a differential mRNA display approach, we identified a cDNA of the cold shock domain protein A (CSDA), a trans-acting factor previously reported to interact in vitro with the gamma-globin gene promoter. (unina.it)
Real time quantitative analysis in the three patients and CSDA expression studies in the human erythroleukemic K562 cell line showed an inverse relationship between gamma-globin and CSDA mRNA levels. (unina.it)
B) Q-RT-PCR analysis of α-globin, β-globin, γ-globin and LYAR gene expression from CB erythroid progenitor cells overexpressing LYAR (LYAR-OE) or containing vector normalized to β-actin mRNA. (nih.gov)
D) Q-RT-PCR analysis of α-globin, γ-globin, β-globin or LYAR gene expression from human AE progenitor cells of LYAR-knockdown (KD) or scrambled control (AE) normalized to β-actin mRNA. (nih.gov)
When K562 human erythroleukemia cells were treated with the Oct-1 decoy oligonucleotide, significant increases in the level of the γ-globin mRNA were observed. (wayne.edu)

Instead of normal hemoglobin, people with methemoglobinemia, beta-globin type have an abnormal form called methemoglobin, which is unable to efficiently deliver oxygen to the body's tissues. (medlineplus.gov)
In methemoglobinemia, beta-globin type, the abnormal hemoglobin gives the blood a brown color. (medlineplus.gov)
Beta-globin is one of four components (subunits) that make up hemoglobin. (medlineplus.gov)
In adults, hemoglobin normally contains two subunits of beta-globin and two subunits of another protein called alpha-globin. (medlineplus.gov)
The most famous mutation in the globin fold is a change from glutamate to valine in one chain of the hemoglobin molecule. (wikipedia.org)
This potentially curative treatment involves extracting a patient's hematopoietic stem cells (HSCs), utilizing a lentiviral vector to stably insert a functional β-globin gene, and then infusing the patient with engineered HSCs that should now be capable of producing red blood cells and hemoglobin. (mskcc.org)
In addition, our findings provide a mechanism for understanding the high levels of gamma-globin transcription seen in patients with Hereditary Persistence of Fetal Hemoglobin, and help explain why 5azaC and butyrate compounds stimulate gamma-globin expression in patients with beta-hemoglobinopathies. (nih.gov)
Adult HEMOGLOBIN is comprised of two ALPHA-GLOBIN chains and two beta-globin chains. (curehunter.com)
In mammals, the alpha and beta globin loci encode the polypeptides that form the heteromeric hemoglobin protein molecule. (hstalks.com)
Cytoglobin is a recently discovered hemeprotein belonging to the globin superfamily together with hemoglobin, myoglobin and neuroglobin. (rcsb.org)
It's called hemoglobin," Hardison continued, "because a molecule called a heme, which has iron in it, snuggles right in between the helices of globin proteins. (psu.edu)
Hemoglobin comes in at about 500 million years ago, and 50 million years later, its globin component split into alpha and beta subunits. (psu.edu)
The alternative two-locus β-globin haplotypes are associated with pronounced differences in intraerythrocyte glutathione and nitric oxide metabolism, suggesting a possible mechanism for selection on hemoglobin function. (genetics.org)
Electrophoretic surveys of hemoglobin polymorphism among inbred strains of house mice have revealed two main β-globin variants, HBB-S and HBB-D. Strains that carry the Hbb s haplotype ( e.g . (genetics.org)
Sickle cell anemia (SCA) is a monogenic disorder characterized by homozygous inheritance of an abnormal hemoglobin molecule, hemoglobin S (Hb S), due to the substitution of glutamic acid for valine at position 6 of the beta globin chain. (scielo.br)
1 , 2 SCA is characterized by a variable clinical course and differences in response to medication, reflecting its complex pathophysiology and suggesting that it can be affected by modulator factors such as the haplotypes of the beta globin chain or fetal hemoglobin (Hb F) levels. (scielo.br)
β-thalassemia, autosomal recessive blood disorders that reduce the production of hemoglobin, are majorly caused by the point mutation of the HBB gene resulting in reduced or absent β-globin chains of the hemoglobin tetramer. (physiciansweekly.com)
Upon escape from the lysosomal compartment, CRISPR/Cas9-PLGA-NPs-mediated gene editing of the γ-globin gene locus resulted in elevated expression of fetal hemoglobin (HbF) in primary erythroid cells. (eur.nl)
Impaired switching from fetal hemoglobin (HbF) to adult globin gene expression leads to hereditary persistence of fetal hemoglobin (HPFH) in adult life. (unina.it)
Fetal hemoglobin levels are regulated by complex mechanisms involving factors linked or not to the beta-globin gene locus. (unina.it)
A hemoglobin electrophoresis evaluation (HBELC / Hemoglobin Electrophoresis Cascade, Blood) is always indicated prior to beta globin gene sequencing because these conditions can be complex and protein data allows accurate and rapid classification of the patient phenotype. (mayocliniclabs.com)
Beta globin gene ( HBB ) sequencing can be used to identify hemoglobin variants and the most common beta thalassemia sequence variants, including beta plus and beta zero thalassemias. (mayocliniclabs.com)
Some hemoglobin disorders will not be detected by beta globin gene sequencing, such as large deletional alterations and crossover events. (mayocliniclabs.com)

Human fetal globin gene expression is regulated by LYAR. (nih.gov)
We found that PRMT5 binding on the proximal γ-promoter was LYAR-dependent.We also found that LYAR repressed human fetal globin gene expression in both K562 cells and primary human adult erythroid progenitor cells.Thus, these data indicate that LYAR acts as a novel transcription factor that binds the γ-globin gene, and is essential for silencing the γ-globin gene. (nih.gov)

The globins are a superfamily of heme-containing globular proteins, involved in binding and/or transporting oxygen. (wikipedia.org)
These proteins all incorporate the globin fold, a series of eight alpha helical segments. (wikipedia.org)
This 'globin fold' typically consists of eight alpha helices, although some proteins have additional helix extensions at their termini. (wikipedia.org)
Here we discuss the significance of ACH formation, provide an overview of the proteins implicated in chromatin looping at the beta-globin locus, and evaluate the relationship between nuclear organization and beta-globin gene expression. (nih.gov)
A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure. (harvard.edu)
Bacterial globins are proteins possessing the classical globin fold and the highly conserved active site residues required for ligand-binding function. (springer.com)
Bacterial globins are classified into three major groups - myoglobin-like globins (two- or single-domain proteins), sensor globins, and truncated globins. (springer.com)
Globins are an ancient superfamily of diverse proteins (Vinogradov et al. (springer.com)
2. The preparation as claimed in claim 1, comprising a material that comprises globin that is insoluble at physiological pH with globin that is soluble at physiological pH and, in smaller amounts, plasma proteins, especially albumin, coagulation factors and platelet factors. (freepatentsonline.com)
15. A process for obtaining the preparation as claimed in claim 1, in which whole blood, preferably defrosted or hemolyzed whole blood, is treated in a medium that extracts or dissolves the haem but leaves the globin and the other constituents of proteinic nature in a substantially undissolved state, and then the pigmented medium is removed to yield the globin together with other blood proteins. (freepatentsonline.com)
The proteins are named globins, I learned later, reading Goldstrohm's thesis, because they're globular in shape. (psu.edu)
At first blush, these globin proteins look like each other," Hardison said. (psu.edu)
Class I bHLH proteins are important transcription factors whose binding sites are frequently clustered throughout the β-globin gene locus, suggesting their role in globin gene regulation. (umontreal.ca)
The F family comprises single domain globins and chimeric, -400aa proteins with C-terminal ferredoxin reductase-like domain. (uzh.ch)
The S family consists of single domain globins and chimeric proteins with variable (300-700aa) C-terminal domain(s)involved in chemotaxis and gene regulation. (uzh.ch)
Overall, the globin superfamily has displayed unsuspected versatility and extraordinary success in evolving from useful but dispensable proteins in a majority of prokaryotes, to ubiquitous indispensability in the crown eukaryotes. (uzh.ch)
Incubation of chicken reticulocytes at elevated temperatures (43 to 45 degrees C) resulted in a rapid change in the pattern of protein synthesis, characterized by the decreased synthesis of normal proteins, e.g., alpha and beta globin, and the preferential and increased synthesis of only one heat shock protein, HSP70. (asm.org)
This could be confered by ~22-nucleotide long microRNAs that associate with argonaute proteins to specifically target γ-globin mRNAs and inhibit protein expression. (uzh.ch)
Aims Fusion proteins of unequal recombination events at the β-globin locus have pathological effect. (bmj.com)
The haemoglobin (Hb) variants of type Lepore are fusion proteins characterised by β-like globin chains with a δ-globin ( HBD ) N-terminus and a β-globin ( HBB ) C-terminus, whereas reciprocal products of underlying crossover events hold a HBB N-terminus and HBD C-terminus instead. (bmj.com)
Finally, Hb Parchman contains a β-like globin chain with a central HBB fragment and HBD -derived N-termini and C-termini, whereas reciprocal hybrid proteins are as yet unknown. (bmj.com)
In the past they used to be primarily characterized as oxygen transport/storage proteins, but since the discovery of new members of the globin family like neuroglobin and cytoglobin, more diverse and complex functions have been assigned to this heterogeneous family. (ugent.be)
Fast and accurate computation of protein stability is increasingly important for e.g. protein engineering and protein misfolding diseases, but no consensus methods exist for important proteins such as globins, and performance may depend on the type of structural input given. (dtu.dk)
Globin-like proteins in Caenorhabditis elegans: in vivo localization, ligand binding and structural properties. (inserm.fr)
The 7TM domains of both proteins appeared very similar, but the globin domain of the A. suum receptor surprisingly seemed to lack several helices, suggesting a novel truncated globin fold. (ugent.be)
Globins are small heme proteins that are present in almost all extant organisms. (ijbs.com)
Globins (Gbs) are small heme proteins that have been found in all kingdoms of life in a wide range of different species [ 1 - 3 ]. (ijbs.com)
The chimeric FHb proteins possess an N-terminal globin domain and a C-terminal FAD- and NAD(P)H-binding reductase domain. (ijbs.com)

The molecular defects causing β-thalassemia are point mutations predominantly found within and around the β-globin gene which result in reduced or absent synthesis of β-globin 10 . (nature.com)
Variation of postnatal γ globin expression and HbF production in these patients was thought to be one of the main genetic factors responsible for clinical heterogeneity found in Hb E/ β thalassemia by reducing globin imbalance and ameliorating ineffective erythropoiesis. (hindawi.com)
In a recent study using a more refined SNP analysis of the β globin gene cluster in HbE/ β thalassemia has shown that there was no other variant elsewhere which has a comparable level of association with that of Xmn I site and the T allele ( Xmn I, +) was almost always in cis with the HbE alleles [ 10 ]. (hindawi.com)
Preferred test for molecular confirmation of β thalassemia or a hemoglobinopathy involving the β-globin gene. (arupconsult.com)
Variants in the beta (β)-globin gene ( HBB ) can result in anemia, β thalassemia, or sickling disorders of varying severity. (arupconsult.com)
A thalassemia mutation of the human β-globin gene as a model system. (bloodjournal.org)
A mutation of the human β-globin gene, which is a rare cause of β-positive thalassemia and which was first observed in a patient with homozygous β-thalassemia intermedia. (bloodjournal.org)
We describe a patient originating from Ghana who had combined heterozygous -α 4.2 thalassemia, ααα anti3.7 triplication, the common δ globin variant HbA 2 ' and a new 65 bp duplication/insertion in exon II of the β globin gene causing β 0 -thalassemia. (haematologica.org)
Baird M, Driscoll C, Schreiner H, Sciarratta GV, Sansone GN, Niazi G, Ramirez F, Bank A (1981) A nucleotide change at a splice junction in the human β-globin gene is associated with β°-thalassemia. (springer.com)
Flavell RA, Bernardo R (1979) The structure of the human β-globin gene in b-thalassemia. (springer.com)
Kan Y, Lee KY, Furbetta M, Angius A, Cao A (1980) Polymorphism of DNA sequence in the β-globin gene region: Application to prenatal diagnosis of β°-thalassemia in Sardinia. (springer.com)
Orkin SH, Old JM, Weatherall DJ, Nathan DG (1979) Partial deletion of β-globin gene DNA in certain patients with β°-thalassemia. (springer.com)
Orkin SH, Kazazian HH Jr, Antonarakis SE, Goff SG, Boehm CO, Sexton JR, Waber PG, Giardina PJV (1982a) Linkage of β-thalassemia mutations and β-globin gene polymorphism with DNA polymorphisms in the human β-globin gene cluster. (springer.com)
CRISPR/Cas9 mediated β-globin gene knockout in rabbits recapitulates human β-thalassemia. (physiciansweekly.com)
Here, using CRISPR/Cas9-mediated genome editing, we point mutated the rabbit β-globin gene HBB2 with high efficiency and generated a β-thalassemia rabbit model. (physiciansweekly.com)
This test ca be used to detect the presence of absence of large deletions in the HBA1 or HBA2 gene in patients or their family members suspected of having alpha thalassemia or who are carriers of alpha globin deletions. (specialtylabs.com)
In this study, we compare the expression of the human β-globin gene from either the HS2/HS3 β-globin LCR or the HS40 regulatory element from the α-globin locus in the context of foamy virus (FV) vectors for the genetic correction of β-thalassemia. (ovid.com)
Both regulatory elements expressed comparable levels of human β-globin in a murine erythroleukemic line, whereas in murine hematopoietic stem cells the HS40.β vector proved more efficient in β-globin expression and correction of the β-thalassemia phenotype. (ovid.com)
Our data suggest that FV vectors with the α-globin HS40 element can be used as alternative but equally efficient vehicles for human β-globin gene expression for the genetic correction of β-thalassemia. (ovid.com)
This animal model should be valuable for studying the mechanisms regulating huα-globin production and for development of therapeutic strategies for β-thalassemia based on downregulation of α-globin expression. (deepdyve.com)
To search for factors putatively involved in gamma-globin gene expression, we examined the reticulocyte transcriptome of three siblings who had different HbF levels and different degrees of beta-thalassemia severity although they had the same alpha- and beta-globin gene cluster genotypes. (unina.it)
The myriad manifestations of thalassemia result from the imbalanced synthesis of α-like and non-α-like globin chains and from the accumulation of unpaired counterpart. (alliedacademies.org)
Mutations that completely inactivate the β gene resulting in no β-globin production cause β0-thalassemia. (alliedacademies.org)
This is a second-tier evaluation of beta thalassemia minor, intermedia, and major, as well as beta globin variant identification. (mayocliniclabs.com)
The study aim of the study is to characterize the spectrum of β globin gene mutations in 136 Turkish, Northern Iraqi and Albanian pediatric β thalassemia major patients. (pagepressjournals.org)

Methemoglobinemia, beta-globin type is caused by mutations in the HBB gene. (medlineplus.gov)
HBB gene mutations that cause methemoglobinemia, beta-globin type change the structure of beta-globin and promote the heme iron to change from ferrous to ferric. (medlineplus.gov)
Naturally-occurring mutations show that coordinated regulation of the two loci is required, since imbalance between the alpha and beta globin chains leads to anemia. (hstalks.com)
The clinical and genetic data accumulated over several decades through naturally occurring human mutations have identified, two independent pathways that could counter-act the globin imbalance in order to ameliorate the severity of β-thalassaemia 12 . (nature.com)
Other mutations allow the production of some β globin but in markedly decreased amounts, and are classified as β+-thalassemias. (alliedacademies.org)
Human β-globin disorders are relatively common genetic diseases cause by mutations in the β-globin gene. (wayne.edu)

The beta globin locus has long served as a major paradigm for studies of eukaryotic gene regulation and transcription. (hstalks.com)
B ) The TATA box mutation abolishes transcription of the γ-globin gene. (pnas.org)
C ) In vitro γ-globin gene transcription is inhibited by addition of the TATA box oligonucleotide (lane 2) into the assay system but not by poly(dI-dC) or the oligonucleotide with mutated TATA box. (pnas.org)
Transcription initiation site of the TATA box-mutated γ-globin gene. (pnas.org)
For the first time, we found that in other hematopoietic lineages, human β-globin locus is in active chromatin and interacts with transcription factors involved in repression. (umontreal.ca)
Gordon, C & Perkins, AC 1999, ' A transcription factor complex at the beta-globin CCAAT site involving members of the C/EBP family of B-zip protein may be involved in haemoglobin switching ', 11th Lorne Cancer Conference, Victoria, Australia, 11/02/99 - 14/02/99 pp. 1006 - 1006. (monash.edu)
The Oct-1 transcription factor is involved in the transcriptional regulation of the γ-globin gene. (wayne.edu)
We have studied the possibility of inducing γ-globin gene expression using decoy oligonucleotides that target the Oct-1 transcription factor consensus sequence. (wayne.edu)
The results of our immunoprecipitation (IP) studies revealed that the treatment of K562 cells with the Oct-1 decoy oligonucleotide significantly reduced the level of the endogenous γ-globin gene promoter region DNA co-precipitated with the Oct-1 transcription factor. (wayne.edu)

This gene provides instructions for making a protein called beta-globin. (medlineplus.gov)
Since the globin fold contains only helices, it is classified as an all-alpha protein fold. (wikipedia.org)
The globin fold was thus the first protein fold discovered (myoglobin was the first protein whose structure was solved). (wikipedia.org)
Levels of nucleotide polymorphism and linkage disequilibrium at the two β-globin paralogs suggest a complex history of diversity-enhancing selection that may be responsible for long-term maintenance of alternative protein alleles. (genetics.org)
GATA binding protein 1 (globin. (wikigenes.org)
The WD40-repeat protein, WDR5, is an essential component of the MLL complex that induces histone H3 K4 methylation, but the role of WDR5 in human globin gene regulation has not yet been established. (haematologica.org)
Results We found that WDR5 interacted with protein arginine methyltransferase 5 (PRMT5), a known repressor of γ-globin gene expression, and was essential for generating tri-methylated H3K4 (H3K4me3) at the γ-globin promoter in K562 cells. (haematologica.org)
We found that WDR5 interacted with HDAC1 and a PHD domaincontaining protein, ING2 (inhibitor of growth), an H3K4me3 mark reader, to enhance γ-globin gene transcriptional repression. (haematologica.org)
A protein in the globin-like fold contains six alpha-helices, A, B, E, F, G and H. Among them, the E-to-H helix unit (E, F, G and H helices) forms a compact structure. (mdpi.com)
report that ribosomal deficiencies in individuals with either DBA or Del(5q) MDS lead to insufficient globin protein synthesis but normal heme synthesis, which results in excess heme and reactive oxygen species in early erythroid precursors and proerythroblast cell death. (sciencemag.org)
We cultured marrow cells from DBA ( n = 3) and del(5q) MDS ( n = 6) patients and determined how heme (a toxic chemical) and globin (a protein) are coordinated. (sciencemag.org)
This results in insufficient globin protein, excess heme and excess reactive oxygen species in early erythroid precursors, and CFU-E (colony-forming unit-erythroid)/proerythroblast cell death. (sciencemag.org)
Furthermore, we studied the expression patterns of glb-1 (ZK637.13) and glb-26 (T22C1.2) in the worms using green fluorescent protein technology and measured alterations of their transcript abundances under hypoxic conditions.GLB-1* displays the classical three-over-three alpha-helical sandwich of vertebrate globins, assembled in a homodimer associated through facing E- and F-helices. (inserm.fr)
This unique chimeric protein is composed of a 7-transmembrane domain (7TM), GLB-33 7TM, typical of a G-protein-coupled receptor, and of a globin domain (GD), GLB-33 GD. (ugent.be)
In contrast to the control globin, approximately 30% of the somatostatin propeptide-globin fusion protein was transported to the distal elements of the Golgi apparatus where it was endoproteolytically processed. (rupress.org)

Delayed globin synthesis leads to excess heme and the macrocytic anemia of Diamond Blackfan anemia and del(5q) myelodysplastic syndrome. (harvard.edu)
therefore, heme synthesis must precede globin synthesis. (jci.org)
Unbalanced production of α-globin in the presence of defective synthesis of β-globin is the primary mechanism for anaemia in β-thalassaemia. (nature.com)
Heat shock-induced translational control of HSP70 and globin synthesis in chicken reticulocytes. (asm.org)
Upon return to control temperatures (37 degrees C), heat-shocked reticulocytes continued to synthesize HSP70 at elevated levels whereas globin synthesis continued to be repressed. (asm.org)
We show that globin translation initiates slowly, whereas heme synthesis proceeds normally. (sciencemag.org)
By crossing huα+/0, muα++/−− mice, we were able to generate mice entirely dependent on huα-globin synthesis. (deepdyve.com)
Nevertheless, they fail to direct alpha globin synthesis in an interspecific hybrid containing the abnormal (alpha alpha)RA chromosome. (ox.ac.uk)

Clinical genetic data accumulated over three decades have clearly demonstrated that direct suppression of α-globin and induction of γ-globin are effective in reducing the globin chain imbalance in erythroid cells hence improving the clinical outcome of patients with β-thalassaemia. (nature.com)
We further show that vorinostat exhibits these synergistic beneficial effects in globin gene expression at nanomolar concentrations without perturbing erythroid expansion, viability, differentiation or the transcriptome. (nature.com)
We show that vorinostat directly reduces the production of α-globin whilst inducing the expression of γ-globin in human erythroid cells without perturbing erythroid proliferation, viability, differentiation or global gene expression. (nature.com)
We previously performed a small molecule screen using Fluidigm high throughput qPCR platform to identify compounds that alter globin gene expression in human erythroid cells to identify compounds that produce favourable effects for β-thalassaemia. (nature.com)
Through erythroid development, the γ globin expression was regulated by interactions between cis -acting sequences within the β globin cluster and trans -acting factors such as BCL-11A, cMYB, and TOX [ 1 , 6 - 8 ]. (hindawi.com)
Design and Methods To study the role of WDR5 in human globin gene regulation, we performed knockdown experiments in both K562 cells and primary human bone marrow erythroid progenitor cells (BMC). (haematologica.org)
Enforced expression of WDR5 in K562 cells reduced γ-globin gene expression, whereas knockdown of WDR5 increased γ-globin gene expression in both K562 cells and primary human bone marrow erythroid progenitor cells. (haematologica.org)
In human BMC, levels of WDR5 were highly enriched on the γ-promoter relative to levels on other globin promoters and compared to the γ-promoter in cord blood erythroid progenitors, suggesting that WDR5 is important in the developmental globin gene expression program. (haematologica.org)

Globin superfamily members share a common three-dimensional fold. (wikipedia.org)
Although the fold of the globin superfamily is highly evolutionarily conserved, the sequences that form the fold can have as low as 16% sequence identity. (wikipedia.org)
The globin superfamily can be divided into three lineages, namely the S, F, and T globins, which belong to two structural classes [ 5 - 7 ]. (ijbs.com)

Takara's Human Beta-globin Control Primer Set contains a set of PCR primers that recognizes the human beta-globin gene at chromosome 11. (clontech.com)
Location of the two adult α-globin paralogs, HBA-T1 and HBA-T2, on chromosome 11 (top). (genetics.org)
Location of the two adult β-globin paralogs, HBB-T1 and HBB-T2, on chromosome 7 (bottom). (genetics.org)
To explore the role of cis -regulatory sequences within the β globin gene cluster at chromosome 11 on human γ globin gene expression related to Hb E allele, we analyze baseline hematological data and Hb F values together with β globin haplotypes in homozygous Hb E. Patients and Methods . (hindawi.com)
Ioannou, Panayiotis 2005-11-11 00:00:00 A 191-kb human bacterial artificial chromosome (BAC) containing the human α-globin genomic locus was used to generate transgenic mice that express, exclusively, human α-globin (huα-globin). (deepdyve.com)

β-globin gene cluster haplotypes in sickle cell patients from Panamá. (biomedsearch.com)
OBJECTIVE: To analyze the frequency of the haplotypes of β-globin gene cluster in randomly selected patients with sickle cell disease (SCD), attended in the Children's Hospital of Panama. (biomedsearch.com)
Surprisingly high levels of nucleotide polymorphism at the two β-globin paralogs were attributable to the segregation of two highly divergent haplotypes, Hbb s (which carries two identical β-globin paralogs) and Hbb d (which carries two functionally divergent β-globin paralogs). (genetics.org)
80 individuals with molecularly confirmed homozygous Hb E were analyzed for the β globin haplotypes and Xmn I polymorphism using PCR-RFLPs. (hindawi.com)
To further explore the role of cis -acting sequences on Hb F production under the less hematopoietic stress and globin chain imbalance in Hb E disorders, we analyzed 7 known single nucleotide polymorphisms within the 50 kb of the β globin gene cluster to construct Hb E-linked β globin haplotypes together with Xmn I polymorphism. (hindawi.com)
The β globin haplotypes of Hb E have been characterized previously in Thailand and within the region of Southeast Asia but they were principally utilized to identify origin, spread, and anthropology of different ethnic groups found with Hb E [ 11 - 13 ]. (hindawi.com)

Protoglobin: a single domain globin found in archaea that is related to the N-terminal domain of globin-coupled sensors. (wikipedia.org)
Frey AD, Shepherd M, Jokipii-Lukkari S, Haggman H, Kallio PT (2011) The single-domain globin of Vitreoscilla: augmentation of aerobic metabolism for biotechnological applications. (springer.com)
Shepherd M, Barynin V, Lu CY, Bernhardt PV, Wu GH et al (2010) The single-domain globin from the pathogenic bacterium Campylobacter jejuni . (springer.com)
Moreover, a single-domain globin (SDFgb) of Hartmannella vermiformis , as well as two truncated hemoglobins (trHbs) of Acanthamoeba castellanii were identified. (ijbs.com)

An analog of the locus control region is located 40 kb upstream of the ζ-globin gene. (deepdyve.com)
β-Globin locus control region (LCR) sequences have been widely used for the regulated expression of the human β-globin gene in therapeutic viral vectors. (ovid.com)

Two so-called beta-like globin chains and two alpha-like globin chains. (hstalks.com)
In each tetramer, the four globin chains are held together by noncovalent attractions. (hstalks.com)
This unbalanced production of α- and β-like globin chains leads to precipitation of free α-globin chains in red blood cells (RBC) and their precursors to cause haemolysis and ineffective erythropoiesis which are considered as the primary pathophysiological mechanism for the anaemia in thalassaemia 11 . (nature.com)
This paper describes the use of high-performance capillary electrophoresis for the separation of globin chains. (nus.edu.sg)
like globin chains and from the accumulation of unpaired counterpart. (alliedacademies.org)
Unpaired globin chains are unstable: they form intracellular aggregates which are insoluble and precipitate causing decreased deformability, membrane damage and selective removal of the damaged cell. (alliedacademies.org)
The β-thalassemias are characterized by a quantitative deficiency of β-globin chains underlaid by a striking heterogeneity of molecular defects. (alliedacademies.org)

The globin fold is found in its namesake globin families as well as in phycocyanins. (wikipedia.org)
The eight helices of the globin fold core share significant nonlocal structure, unlike other structural motifs in which amino acids close to each other in primary sequence are also close in space. (wikipedia.org)
Truncated 2/2 globin: lack the first helix, giving them a 2-over-2 instead of the canonical 3-over-3 alpha-helical sandwich fold. (wikipedia.org)
An attempt to increase embryonic globin RNA induction by treatment with parenteral sodium butyrate after 7 days of 5-azacytidine administration resulted in a 5- to 10-fold increase in the level of embryonic globin RNA. (pnas.org)
All bacterial Hbs belong to one of three families: the flavohemoglobins (F) and sensor (S) globins, that display the canonical 3/3 α-helical fold characteristic of the metazoan Hbs, and the 2/2 ("truncated") Hbs (T), that exhibit a shortened 2/2 α-helical fold. (uzh.ch)
Although their translated amino acid sequences fit the globin fold, a variety of amino-acid substitutions and extensions generate a wide structural diversity among the putative globins. (inserm.fr)
The members of the F and S lineages possess the typical globin fold, i.e. a 3-over-3 (3/3) α-helical fold consisting of seven or eight α-helices, designated A through H [ 8 ]. (ijbs.com)

Draft sequences of the Atlantic cod genome enabled us to determine the genomic organization of the globin repertoire in this marine species that copes with fluctuating environments of the temperate and Arctic regions. (bibsys.no)
We transfected mouse erythroleukemia cells with a 15 kbp plasmid containing a lac operator repeat plus β-globin regulatory sequences driving a β-galactosidase reporter gene. (biologists.org)
Conclusion Hb Palencia contains the first globin variant with internal HBD sequences and HBB -derived N-terminal and C-terminal and regulatory sequences. (bmj.com)
It seems probable that previously unidentified positive regulatory sequences analogous to those detected in a corresponding position of the human beta globin cluster are removed by this deletion. (ox.ac.uk)

Altogether, clarifies Goldstrohm, humans can make six different hemoglobins-three during the embryo stage, one as a fetus, and two as adults-using the different forms of globins. (psu.edu)
Here's a diagram showing the pseudogene in the β-globin gene cluster in humans and chimps. (blogspot.com)
Gas chromatographic-mass spectrometric determination of benzo[a]pyrene and chrysene diol epoxide globin adducts in humans. (aacrjournals.org)
The results of this study demonstrate the feasibility of the GC-NICI-MS-SIM method for measurement of BPDE globin adducts in humans. (aacrjournals.org)
In humans, the β-globin gene domain is located in the GC-depleted isochore and contains multiple nuclear matrix attachment regions. (deepdyve.com)

article{3239049, abstract = {Globins occur in all kingdoms of life where they fulfill a wide variety of functions. (ugent.be)

Total RNA from yolk sac or adult blood was hybridized with a 32 P-labeled RNA probe spanning exon 1 to −382 promoter of the γ-globin gene. (pnas.org)
And even among the beta-globin gene family, we have embryonic, fetal, and adult forms. (psu.edu)
Adult White Leghorn chickens were rendered anemic by injection with 1-acetyl-2-phenylhydrazine and then treated with parenteral 5-azacytidine, and levels of embryonic globin RNA in circulating reticulocytes were measured. (pnas.org)
Numerous studies have been carried out in humanised mice models and have shown that genetic manipulations of the locus could activate adult β-globin expression. (gla.ac.uk)
Due to consistent differences in O 2 -binding properties between HbD and the major adult-expressed Hb isoform, HbA (which incorporates products of the α A -globin gene), recurrent losses of α D -globin contribute to among-species variation in blood-O 2 affinity. (unl.edu)

This locus contains not only the beta globin gene but also delta, gamma-A, gamma-G, and epsilon globin. (wikipedia.org)
The Dominant Control Region (DCR) of the human beta-globin gene locus consists of four strong hypersensitive sites (HSS) upstream of the epsilon-globin gene. (nih.gov)
They include epsilon-globin, gamma-globin, delta-globin and beta-globin. (curehunter.com)

The study also confirmed the presence of a 150-base pair Alu insertion element and a 1.8-kb deletion in the g 1 -globin pseudogene in A. fusca , features found previously in the remaining three species. (scielo.br)
Leicester Research Archive: Processes of copy-number change in human DNA: the dynamics of {alpha}-globin gene deletion. (le.ac.uk)
Processes of copy-number change in human DNA: the dynamics of {alpha}-globin gene deletion. (le.ac.uk)
Finally, direct knowledge of germ-line deletion rates can give insights into the fitness of individuals with these alpha-globin gene deletions, providing a new approach to investigating historical levels of selection operating in human populations. (le.ac.uk)
A silent deletion in the beta-globin gene cluster. (ox.ac.uk)
A survey of the gamma-globin gene region of over 1000 normal individuals revealed a novel 2.5 kb deletion which removes the 5' end of the A gamma-globin gene. (ox.ac.uk)
Unusually, this deletion in the beta-globin gene cluster is not associated with increased fetal haemoglobin production. (ox.ac.uk)

A. Two IEs (yellow) bounded by loxP elements (stippled black) were inserted into the γ A promoter region of a YAC containing the human β-globin locus , and this was used to generate transgenic mice that were then crossed with two different cre-expressing lines. (nih.gov)
Recruitment of TBP, TFIIB, and Pol II in the transgenic mice carrying the TATA box-mutated γ-globin gene. (pnas.org)
Hemizygous transgenic mice carrying the huα-globin locus on a heterozygous knockout background (huα+/0, muα++/−−) demonstrated complementation of most hematologic parameters. (deepdyve.com)
Our studies demonstrate that the huα-globin locus in the 191-kb transgene contains all the necessary elements for the regulated expression of huα-globin in transgenic mice. (deepdyve.com)

A very small but detectable amount of correctly initiated embryonic p-type globin RNA was detected in reticulocytes from birds treated with 5-azacytidine, while none was detected in reticulocytes from those receiving only phenylhydrazine or phenylhydrazine plus 1-beta-D-arabinofuranosylcytosine (cytosine arabinonucleoside). (pnas.org)
Most interspecific variation in gene content is attributable to multiple independent inactivations of the α D -globin gene, which encodes the α-chain subunit of a functionally distinct Hb isoform (HbD) that is expressed in both embryonic and definitive erythrocytes. (unl.edu)

Short in-Frame Insertions/Deletions in the Coding Sequence of the α-Globin Gene. (inserm.fr)

Tuan D, Biro PA, De Riel JK, Lazarus H, Forget BG (1979) Restriction endonuclease mapping of the human γ-globin gene loci. (springer.com)

800), clearly related to the familiar vertebrate myoglobins,α- and β-globins and the recently discovered neuroglobins and cytoglobins. (uzh.ch)
We hypothesize that the fusion of the three chordate linkage groups 3, 15 and 17 more than 800 MYA led to the ancestral vertebrate globin cluster during a geological period of increased atmospheric oxygen content. (bibsys.no)
New views of evolution and regulation of vertebrate beta-like globin gene clusters from an orphaned gene in marsupials. (semanticscholar.org)

Expression patterns in the globin gene cluster are subject to developmental regulation in vivo. (nih.gov)
The HBBP1 gene also has the most regulatory associations with active and open chromatin within the entire β-globin cluster and its transcripts are expressed in at least 251 different human cell and/or tissue types. (blogspot.com)
Antonarakis SE, Boehm CD, Giardina PJV, Kazazian HH Jr (1982) Nonrandom association of polymorphic restriction sites in the β-globin gene cluster. (springer.com)

In search to visualize and measure these dynamic changes in chromatin structure of the β-globin locus, we used a 3D DNA-FISH method in combination with 3D image acquisition to volume render fluorescent signals into 3D objects. (biologists.org)

Globin E: a globin responsible for storing and delivering oxygen to the retina in birds Globin-coupled sensors: chimeric, with an N-terminal myoglobin-like domain and a C-terminal domain that resembles the cytoplasmic signalling domain of bacterial chemoreceptors. (wikipedia.org)
The globin domain of C. elegans GLB-33, however, was very similar to a genuine myoglobin-type molecule. (ugent.be)

Gene Turnover in the Avian Globin Gene Families and Evolutionary Chan" by Juan C. Opazo, Federico G. Hoffmann et al. (unl.edu)

Role of LYAR in developmental globin gene silencing. (nih.gov)

The cavity, which may provide a heme ligand diffusion pathway, is connected to the external space through a narrow tunnel nestled between the globin G and H helices. (rcsb.org)

We surveyed nucleotide polymorphism in two closely linked α-globin paralogs and two closely linked β-globin paralogs to test whether patterns of variation are consistent with a model of long-term balancing selection. (genetics.org)
Kan YM, Dozy AM (1978) Polymorphism of DNA sequence adjacent to human β-globin structural gene: Relationship to sickle mutation. (springer.com)

Human genomic DNA was amplified by using a pair of primers covering the TATA box of the γ-globin promoter. (pnas.org)
Genomic structure of the α- and β-globin gene families of M. musculus . (genetics.org)
A comparative genomic analysis of 52 bird species revealed that the size and membership composition of the α- and β-globin gene families have remained remarkably constant during approximately 100 My of avian evolution. (unl.edu)
In the present study we have analyzed whole genomic data from C. briggsae, C. remanei, Pristionchus pacificus and Brugia malayi and EST data from several other nematode species to study the evolutionary history of the nematode globin gene family. (wayne.edu)

In addition, in an ex vivo assay using CD34+ cells from thalassemic patients, both vectors achieved significant human β-globin expression and restoration of the thalassemic phenotype as evidenced by enhanced erythropoiesis and decreased apoptosis. (ovid.com)
In vivo, this globin is found in the membrane of the head mesodermal cell and in the tail stomato-intestinal and anal depressor muscle cells. (ugent.be)

Anatomy9

Organisms2

Diseases8

Chemicals and Drugs24

Analytical, Diagnostic and Therapeutic Techniques and Equipment2

Phenomena and Processes12

Information Science3

Deletion of a region that is a candidate for the difference between the deletion forms of hereditary persistence of fetal hemoglobin and deltabeta-thalassemia affects beta- but not gamma-globin gene expression. (1/3761)

The splicing factor-associated protein, p32, regulates RNA splicing by inhibiting ASF/SF2 RNA binding and phosphorylation. (2/3761)

Substrate specificities of SR proteins in constitutive splicing are determined by their RNA recognition motifs and composite pre-mRNA exonic elements. (3/3761)

A new alkali-resistant hemoglobin alpha2J Oxford gammaF2 in a Sicilian baby girl with homozygous beta0 thalassemia. (4/3761)

The identification of ferritin in the nucleus of K562 cells, and investigation of a possible role in the transcriptional regulation of adult beta-globin gene expression. (5/3761)

Pre-mRNA splicing of IgM exons M1 and M2 is directed by a juxtaposed splicing enhancer and inhibitor. (6/3761)

Identification of heparin-binding EGF-like growth factor as a target in intercellular regulation of epidermal basal cell growth by suprabasal retinoic acid receptors. (7/3761)

Intronless mRNA transport elements may affect multiple steps of pre-mRNA processing. (8/3761)

Globins

Thalassemia

Reticulocytes

Leukemia, Erythroblastic, Acute

alpha-Globins

beta-Globins

Hemoglobins

Locus Control Region

Genes, Switch

Hemin

RNA, Messenger

Hemoglobinopathies

Erythropoiesis

Genes

beta-Thalassemia

Erythroid Cells

Nucleic Acid Hybridization

Erythroblasts

Base Sequence

gamma-Globins

Erythrocytes

Erythroid Precursor Cells

Protein Biosynthesis

Hemoglobin A

Truncated Hemoglobins

NF-E2 Transcription Factor, p45 Subunit

alpha-Thalassemia

Transcription, Genetic

Heme

NF-E2 Transcription Factor

Erythroid-Specific DNA-Binding Factors

Molecular Sequence Data

Dimethyl Sulfoxide

DNA Restriction Enzymes

DNA

Anemia, Sickle Cell

Hemoglobin A2

Gene Expression Regulation

Carcinoma, Krebs 2

Chromosomes, Artificial, Yeast

Rabbits

Cell-Free System

Polychaeta

Hemoglobin H

GATA1 Transcription Factor

Hemoglobin E

Multigene Family

Deoxyribonuclease I

Hemoglobin, Sickle

Myoglobin

Poly A

K562 Cells

Hybrid Cells

Leukemia, Experimental

Amino Acid Sequence

Deletion of a region that is a candidate for the difference between the deletion forms of hereditary persistence of fetal hemoglobin and deltabeta-thalassemia affects beta- but not gamma-globin gene expression. (1/3761)

The splicing factor-associated protein, p32, regulates RNA splicing by inhibiting ASF/SF2 RNA binding and phosphorylation. (2/3761)

Substrate specificities of SR proteins in constitutive splicing are determined by their RNA recognition motifs and composite pre-mRNA exonic elements. (3/3761)

A new alkali-resistant hemoglobin alpha2J Oxford gammaF2 in a Sicilian baby girl with homozygous beta0 thalassemia. (4/3761)

The identification of ferritin in the nucleus of K562 cells, and investigation of a possible role in the transcriptional regulation of adult beta-globin gene expression. (5/3761)

Pre-mRNA splicing of IgM exons M1 and M2 is directed by a juxtaposed splicing enhancer and inhibitor. (6/3761)

Identification of heparin-binding EGF-like growth factor as a target in intercellular regulation of epidermal basal cell growth by suprabasal retinoic acid receptors. (7/3761)

Intronless mRNA transport elements may affect multiple steps of pre-mRNA processing. (8/3761)

High-level, erythroid-specific expression of the human alpha-globin gene in transgenic mice and the production of human...

Analysis of the human alpha-globin gene cluster in transgenic mice. - MRC Weatherall Institute of Molecular Medicine

Regulation of human embryonic globin genes zeta 2 and epsilon in stably transformed mouse erythroleukemia cells. - Radcliffe...

High-level, erythroid-specific expression of the human alpha-globin gene in transgenic mice and the production of human...

Analysis of the human alpha globin upstream regulatory element (HS-40) in transgenic mice. - Radcliffe Department of Medicine

Activation of a chicken embryonic globin gene in adult erythroid cells by 5-azacytidine and sodium butyrate | PNAS

Induction of endogenous γ-globin gene expression with decoy oligonucleotide targeting . . . by Xiaoxin S. Xu, Xin Hong et al.

Globin - Wikipedia

Features in the human beta-like globin gene cluster

HBE1 - Wikipedia

Neuroglobin, a novel member of the globin family, is expressed in focal regions of the brain<...

Nonsense mutations in the human beta globin gene affect mRNA metabolis by Susan J. Baserga

The primary transcription unit of the human alpha 2 globin gene defined by quantitative RT/PCR. - Oxford Neuroscience

Proximity among distant regulatory elements at the beta-globin locus r by Christopher R. Vakoc, Danielle L. Letting et al.

Translational Properties of Rabbit Globin mRNA after Specific Removal of Poly(A) with Ribonuclease H - CORE

An erythroid chaperone that facilitates folding of α-globin subunits for hemoglobin synthesis<...

Molecular mechanisms of globin gene regulation and disregulat...