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)

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

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_β-globin_locus

... flanking region of the beta-globin gene. The CoTC core is highly conserved in the 3' UTR of other primate beta-globin genes. ... The Beta-globin co-transcriptional cleavage ribozyme (CotC ribozyme) was proposed to be an RNA enzyme known as a ribozyme. ... Page for Beta-globin co-transcriptional cleavage ribozyme at Rfam v t e (Orphaned articles from May 2016, All orphaned articles ... This process is also referred to as co-transcriptional cleavage (CoTC). The CoTC process in the human beta-globin gene was ...

https://en.wikipedia.org/wiki/Beta-globin_co-transcriptional_cleavage_ribozyme

... 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. Vol. 47. pp. 255-310. doi:10.1016/ ...

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

... 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 ... The hemoglobin subunit beta is coded by HBB gene which is on chromosome 11 . The amino acid sequences of the globin proteins in ...

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

"N-Baltimore.html". globin.bx.psu.edu. Retrieved 2017-03-30. "Medical Archives - Personal Paper Collections: The C. Lockard ... Disorders of globin and globulin proteins, Mutation). ...

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

These globin genes in the globin family are all well conserved and only differ by a small portion of the gene, indicating that ... The globin gene family is an elaborate network of genes consisting of alpha and beta globin genes including genes that are ... An example of a gene family that may have been created due to copy number variations is the globin gene family. ... Goodman M, Koop BF, Czelusniak J, Weiss ML (December 1984). "The eta-globin gene. Its long evolutionary history in the beta- ...

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

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}}: Cite journal requires ,journal= (help) "World Renowned Geneticist ... 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

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

... zeta globins) and two ε globins (epsilon globins) (ζ2ε2) Hb Gower-2, composed of two alpha globins and two epsilon globins ( ... 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 ... α2ε2) Hb Portland, composed of two zeta globins and two gamma globins (ζ2γ2) Fetal Hb (Hb F) is produced from approximately ...

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

Freitas, Tracey Allen K.; Saito, Jennifer A.; Wan, Xuehua; Hou, Shaobin; Alam, Maqsudul (2008), "Protoglobin and Globin-coupled ... Synteny and Collinearity in Plant Genomes (2008). Protoglobin and globin-coupled sensors (2008). "About Professor Maqsudul Alam ...

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

The gamma globin genes (HBG1 and HBG2) are normally expressed in the fetal liver, spleen and bone marrow. Two gamma chains ... 1979). "Human T gamma globin chain is a variant of A gamma chain (A gamma Sardinia)". Proc. Natl. Acad. Sci. U.S.A. 76 (7): ... Fucharoen S, Shimizu K, Fukumaki Y (1990). "A novel C-T transition within the distal CCAAT motif of the G gamma-globin gene in ... 1977). "Human beta-globin messenger RNA. I. Nucleotide sequences derived from complementary RNA". J. Biol. Chem. 252 (14): 5019 ...

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

Expression of beta globin and the neighbouring globins in the β-globin locus is controlled by single locus control region (LCR ... Hemoglobin subunit beta (beta globin, β-globin, haemoglobin beta, hemoglobin beta) is a globin protein, coded for by the HBB ... The mutant alleles are subdivided into two groups: β0, in which no functional β-globin is made, and β+, in which a small amount ... The order of the genes in the beta-globin cluster is 5' - epsilon - gamma-G - gamma-A - delta - beta - 3'. HBB interacts with ...

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

... while alpha-globin is produced throughout fetal and adult life. The zeta-globin gene is a member of the human alpha-globin gene ... Zeta-globin is an alpha-like hemoglobin. The zeta-globin polypeptide is synthesized in the yolk sac of the early embryo, ... Lau ET, Kwok YK, Chui DH, Wong HS, Luo HY, Tang MH (July 2001). "Embryonic and fetal globins are expressed in adult erythroid ... Proudfoot NJ, Gil A, Maniatis T (December 1982). "The structure of the human zeta-globin gene and a closely linked, nearly ...

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

... is a member of the vertebrate globin family involved in cellular oxygen homeostasis and reactive oxygen/nitrogen ... It is of ancient evolutionary origin, and is homologous to nerve globins of invertebrates. Recent research confirmed the ... Burmester T, Weich B, Reinhardt S, Hankeln T (September 2000). "A vertebrate globin expressed in the brain". Nature. 407 (6803 ... science.gov, Neuroglobins, Pivotal Proteins Associated with Emerging Neural Systems and Precursors of Metazoan Globin Diversity ...

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

In 1979, his research group isolated the gene for epsilon-globin (HBE1), a component of human embryonic hemoglobin. He was one ... Proudfoot, NJ; Baralle, FE (November 1979). "Molecular cloning of human epsilon-globin gene". Proceedings of the National ... Tito published the sequence of the messenger RNA coding for beta-globin, the first complete primary structure of a eukaryotic ... "The Structure and evolution of the human b-globin gene family" "TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral ...

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

Flavell, R. A. (1983). "The globin genes of rabbit and man. The eighteenth Colworth medal lecture". Biochemical Society ...

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

Cocca, E (1997). "Do the hemoglobinless icefishes have globin genes?". Comp. Biochem. Physiol. A. 118 (4): 1027-1030. doi: ...

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

The β-globin LCR in mice and humans is found 6-22 kb upstream of the first globin gene (epsilon). It controls the following ... The β-globin LCR was identified over 20 years ago in studies of transgenic mice. These studies determined that the LCR was ... Although the name implies that the LCR is limited to a single region, this implication only applies to the β-globin LCR (HBB- ... It functions in a copy number-dependent manner and is tissue-specific, as seen in the selective expression of β-globin genes in ...

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

... 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

These globins dramatically improve the concentration of molecular oxygen that can be carried in the biological fluids of ... Examples of such designs include: Helichrome Globin-1 Cy-AA-EK Peptides IIa/IId α2 Transmembrane helical designs Later design ... June 1999). "Design and synthesis of a globin fold". Biochemistry. 38 (23): 7431-7443. doi:10.1021/bi983006y. PMID 10360940. ...

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

Hemoglobin synthesis comprises globin and heme synthesis. The heme molecule is formed by the attachment of an Fe2+ ion to ...

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

... 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

1999)‎. Haplotypes of the beta-globin gene as prognostic factors in sickle-cell disease. EMHJ - Eastern Mediterranean Health ... Haplotypes of the beta-globin gene as prognostic factors in sickle-cell disease. ... Our results suggest that beta-globin gene haplotypes influence the clinical presentation of sickle-cell disease, and that there ...

https://apps.who.int/iris/handle/10665/118810

The HBBP1 gene also has the most regulatory associations with active and open chromatin within the entire β-globin cluster and ... One of the iconic (yet enigmatic) arguments for human-ape common ancestry has been the β-globin pseudogene (HBBP1). ... research confirms that the HBBP1 region of the 6-gene β-globulin cluster is highly non-variable compared to the other β-globin ... genomics data showing that the HBBP1 gene is transcriptionally active and a key interactive component of the β-globin gene ...

https://www.icr.org/article/human-beta-globin-pseudogene-non-variable/

1DXV: High-resolution X-ray Study Of Deoxy Recombinant Human Hemoglobins Synthesized From Beta-globins Having Mutated Amino ...

https://www.ncbi.nlm.nih.gov/Structure/pdb/1DXV

More info for Fold a.1: Globin-like. Timeline for Fold a.1: Globin-like: *Fold a.1: Globin-like appears in SCOP 1.57. *Fold a.1 ... Lineage for Fold a.1: Globin-like. *Root: SCOP 1.55 *. Class a: All alpha proteins [46456] (138 folds). ...

https://scop.berkeley.edu/sunid=46457&ver=1.55

Alpha globin variation in the long-tailed macaque suggests malaria selection. View ORCID ProfileC.L. Faust, F. Rangkuti, S. G. ... Alpha globin variation in the long-tailed macaque suggests malaria selection Message Subject (Your Name) has forwarded a page ... Almost all M. fascicularis haemoglobin variation is in the alpha globin chain, encoded by two linked genes: HBA1 and HBA2. We ... We identify a range of missense mutations in M. fascicularis alpha globin and demonstrate that some of these exhibit a striking ...

https://www.biorxiv.org/content/10.1101/2020.10.21.344853v1

https://extranet.who.int/iris/restricted/handle/10665/118810

The studies also suggest that lack of strong heme-globin binding does not hinder the synthesis of globin chains. ... Synthesis of hemoglobin Gun Hill: increased synthesis of the heme-free βGH globin chain and subunit exchange with a free α- ... No evidence was obtained for the existence of "slow points" in the process of globin chain assembly. ...

https://www.jci.org/articles/view/106506

Alpha-globin transcription factor CP2, SAA3 enhancer factor, Transcription factor LSF, TFCP2, LSF, SEF ...

https://www.gbiosciences.com/IT14666

... part of the β-globin gene and about 4.5 kb of its upstream flanking region was cloned and sequenced. The sequence was compared ... Evolution of the primate beta-globin gene region: nucleotide sequence of the delta-beta-globin intergenic region of gorilla and ... Evolution of the primate beta-globin gene region: nucleotide sequence of the delta-beta-globin intergenic region of gorilla and ... Abstract : A 6.0-kb DNA fragment from Gorilla gorilla including the 5′ part of the β-globin gene and about 4.5 kb of its ...

https://hal.archives-ouvertes.fr/hal-00698137

Results show that most helices in globins can be identified by high curvature, with the exception of the C and D helices. ... Analysis of the superposition reveals that globins are most strongly conserved structurally in the mid-regions of the E and G ... The algorithm is applied to analyze a set of seven globin structures. Our method identifies 100 corresponding landmarks across ... Modeling and superposition of multiple protein structures using affine transformations: analysis of the globins. Journal ...

https://scholars.duke.edu/display/pub797206

It has been demonstrated that increased embryonic globin (ε-globin) gene expression, similar to fetal globin (γ-globin), can ... We also found that SUV4-20h1 repressed embryonic globin gene expression in mice, suggesting a conserved role for SUV4-20h1 ... Herein, we show that a histone lysine methyltransferase, SUV4-20h1, plays a critical role in silencing ε-globin gene expression ... We found that ε-globin gene expression could be modulated by coordinate SUV4-20h1-dependent histone modification and DNA ...

https://www.cipsm.de/publications/research-area-d/globin-expression-is-regulated-by-suv4-20h1/

Genes, Dominant, *Genes, Structural, 0 (Plasmids), 9004-22-2 (Globins), Animals, Base Sequence, Cell Line, Deoxyribonuclease I, ... Detailed analysis of the site 3 region of the human β-globin Dominant Control Region.. Publication. Publication. EMBO Journal ... Talbot, D, Philipsen, J.N.J, Fraser, P.J, & Grosveld, F.G. (1990). Detailed analysis of the site 3 region of the human β-globin ... We have delineated the hypersensitive site located 10.5 kbp upstream of the epsilon-globin gene by short range DNase I ...

https://repub.eur.nl/pub/2451

3468 Single-Cell RNA Sequencing of Sickle Cell Reticulocytes to Identify Beta-Globin Genotypes and Associated Gene Expression ... is a genetic condition typically caused by a single point mutation in both copies of the beta-globin (HBB) gene, resulting in ...

https://ash.confex.com/ash/2022/webprogram/Paper162370.html

The platypus α-globin cluster (chromosome 21) contains embryonic and adult α- globin genes, a β-like ω-globin gene, and the GBY ... Thus, the mammalian α- and β-globin clusters are orthologous to the bird α- and β-globin clusters respectively. We propose that ... From tandem duplication of a single globin locus, the α- and β-globin clusters expanded, and then were separated onto different ... The platypus β-globin cluster (chromosome 2) contains single embryonic and adult globin genes arranged as 5-ε-β-3. ...

https://bmcbiol.biomedcentral.com/articles/10.1186/1741-7007-6-34/figures/8

Potentially Therapeutic Levels of Anti-Sickling Globin Gene Expression Following Lentivirus-mediated Gene Transfer in Sickle ... Potentially Therapeutic Levels of Anti-Sickling Globin Gene Expression Following Lentivirus-mediated Gene Transfer in Sickle ...

https://www.stembook.org/node/10078

A Globin Domain in a Neuronal Transmembrane Receptor of Caenorhabditis Elegans and Ascaris Suum: Molecular Modeling and ...

https://www.edinst.com/fr/library/globin-domain-neuronal-transmembrane-receptor-caenorhabditis-elegans-ascaris-suum-molecular-modeling-functional-properties/

... kb fragment that contained only the hemoglobin alpha globin gene-2 gene. This finding led to screening and follow up in first- ... in intron 1 of the hemoglobin beta globin gene and a non-pathogenic sequence variant (single nucleotide polimorfism (SNP) ... From: Combination of a triple alpha-globin gene with beta-thalassemia in a gypsy family: importance of the genetic testing in ...

https://bmcresnotes.biomedcentral.com/articles/10.1186/s13104-016-2027-1/figures/1

COMPARATIVE EVALUATIONS, GLOBINS, HYDROGEN PEROXIDE, REDOX REACTIONS, SPECTROSCOPY, STRUCTURAL CHEMICAL ANALYSIS, ULTRAVIOLET ...

https://inis.iaea.org/search/search.aspx?orig_q=RN:40014288

Expression of GATA-1 in a Non-hematopoietic Cell Line Induces β-Globin Locus Control Region Chromatin Structure Remodeling and ... Expression of GATA-1 in a Non-hematopoietic Cell Line Induces β-Globin Locus Control Region Chromatin Structure Remodeling and ...

https://www.growkudos.com/publications/10.1016%25252Fj.jmb.2006.11.094/reader

Several of these microsatellites have been described within the β-globin locus and some could be involved in controlling gene ... Genetic variations in human fetal globin gene microsatellites and their functional relevance. In: Human Genetics. 1999 ; Vol. ... Several of these microsatellites have been described within the β-globin locus and some could be involved in controlling gene ... Several of these microsatellites have been described within the β-globin locus and some could be involved in controlling gene ...

https://moh-it.pure.elsevier.com/en/publications/genetic-variations-in-human-fetal-globin-gene-microsatellites-and

annotate test-data/globins-masked.sto @ 7:b28e8ed99424 draft default tip Find changesets by keywords (author, files, the commit ...

https://toolshed.g2.bx.psu.edu/repos/iuc/hmmer_nhmmer/annotate/tip/test-data/globins-masked.sto

alpha globin (HBA) gene duplications, next generation sequencing, non-transfusion dependent thalassaemia, Alleles, Gene ... Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next ... Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next ...

https://www.imm.ox.ac.uk/publications/636750

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. ... "beta-Globins" is a descriptor in the National Library of Medicines controlled vocabulary thesaurus, MeSH (Medical Subject ... This graph shows the total number of publications written about "beta-Globins" by people in this website by year, and whether " ...

https://profiles.rush.edu/display/17862

Professor of Biostatistics and Informatics

https://ianhambleton.com/tag/beta-globins/genetics/

As Globin Solutions and the University of Pittsburgh have continued their discovery-based research collaboration, we have ... In this grant program, in conjunction with the University of Pittsburgh, Globin Solutions will continue to develop the ...

https://globinsolutions.com/technology/

A single therapeutic base edit of the BCL11A enhancer prevented sickling and ameliorated globin chain imbalance in erythroid ... CRISPR/Cas9 β-globin gene targeting in human haematopoietic stem cells. Nature 539, 384-389 (2016). ... Three new β-globin gene promoter mutations identified through newborn screening. Hemoglobin 31, 129-134 (2007). ... A single therapeutic base edit of the BCL11A enhancer prevented sickling and ameliorated globin chain imbalance in erythroid ...

https://www.nature.com/articles/s41591-020-0790-y?error=cookies_not_supported&code=39cd1b3d-a74c-4ebe-abf8-2466aaff3af0

LBDRLP - Roche LA low positive globin control. Variable Name: LBDRLP. SAS Label: Roche LA low positive globin control. English ... LBDRHP - Roche LA high positive globin control. Variable Name: LBDRHP. SAS Label: Roche LA high positive globin control. ... If beta-globin is not present, both LBDRHP and LBDRLP are negative in the sample and no HPV type is detected, the sample is ... Roche LA high positive globin control. Target: Females only 14 YEARS - 17 YEARS. Code or Value. Value Description. Count. ...

https://wwwn.cdc.gov/Nchs/Nhanes/limited_access/SWR_E_R.htm

title = "Stat3β inhibits γ-globin gene expression in erythroid cells",. abstract = "We demonstrated previously γ-globin gene ... Foley, HA, Ofori-Acquah, SF, Yoshimura, A, Critz, S, Surendra Baliga, B & Pace, BS 2002, Stat3β inhibits γ-globin gene ... Stat3β inhibits γ-globin gene expression in erythroid cells. In: Journal of Biological Chemistry. 2002 ; Vol. 277, No. 18. pp. ... Stat3β inhibits γ-globin gene expression in erythroid cells. Heather A. Foley, Solomon F. Ofori-Acquah, Akihiko Yoshimura, ...

https://augusta.pure.elsevier.com/en/publications/stat3%CE%B2-inhibits-%CE%B3-globin-gene-expression-in-erythroid-cells

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. (icr.org)
We identify a range of missense mutations in M. fascicularis alpha globin and demonstrate that some of these exhibit a striking HBA1 or HBA2 specificity, a pattern consistent with computational simulations of selection on genes exhibiting copy number variation. (biorxiv.org)
We propose that M. fascicularis accumulated amino acid substitutions in its alpha globin genes under malaria selection, in a process that closely mirrors, but does not entirely converge with, human malaria adaptation. (biorxiv.org)
Four DNase I hypersensitive sites characterize the human beta-globin Dominant Control Region (DCR) providing position independent, high levels of erythroid specific expression to linked homologous and heterologous genes when introduced into cultured cells or in transgenic mice. (eur.nl)
This assay can be used instead of southern blot analysis to determine the total number of intact alpha globin genes. (fantesti.co)
The human genome has two linked alpha-globin genes on chromosome 16. (ox.ac.uk)
Deletion of one or more of them, as occurs in alpha-thalassaemia, leads to a reduced output of alpha-globin mRNA in proportion to the number of alpha-globin genes lost. (ox.ac.uk)
In some racial groups deletion of one of the pair of alpha-globin genes may result from unequal crossing over between the genes on homologous chromosomes by a mechanism resembling that postulated for the formation of the delta beta fusion genes of the Lepore haemoglobins. (ox.ac.uk)
By analogy, the opposite chromosome in this cross-over should have three alpha-globin genes just as the 'anti-Lepore chromosome has three non-alpha chain genes. (ox.ac.uk)
The number of globin genes in human cells was determined by hybridizing DNA from human spleens to 3 H labeled DNA complementary to human globin mRNA. (mssm.edu)
The α-like and β-like globin genes have provided a paradigm for the study of molecular evolution and regulation of multigene families in eukaryotes. (elsevier.com)
Both α-globin genes were screened for deletional and nondeletional mutations using a stepwise diagnostic strategy as described before. (elsevier.com)
globin genes increases the concentration of fetal hemoglobin and hemoglobin A2 in a Saudi Arabian population. (cdc.gov)
A sibling who is fully matched for human leukocyte antigen (HLA) and who is, at most, a carrier for alpha thalassemia (deletion of 2 alpha-globin genes) is the most suitable donor. (medscape.com)
and (iii) molecular analysis of the haemoglobin S mutation , the haplotype in the ß- globin -like genes cluster, the 3.7 kb Î±-thalassaemia gene deletion and 19 selected single- nucleotide polymorphisms ( SNPs ) associated with fetal haemoglobin (HbF) levels.Results. (bvsalud.org)

Mutation of β-globin gene causing translation-premature termination results in significant decrease of the mRNA abundance. (who.int)
In this study, α/β-globin mRNA ratio was determined by semi-quantitative RT-PCR in β-thalassemia carriers with the β17, β41/42, β71/72 and β27 mutations and in a patient with compound heterozygous β17, β27 mutations. (who.int)
The α/β-globin mRNA ratio of normal individual was found to be 0.98 whereas those of heterozygous for β17, β41/42, β71/72 and compound heterozygous β17/β27 were 0.89 1.66 1.60 and 3.09, respectively. (who.int)
This result was in concordance with the α/β-globin mRNA ratio observed. (who.int)
This data indicates that the α/β-globin mRNA ratio is dependent on the type and the location of premature termination mutation and related to some other factors involving NMD mechanism in cells. (who.int)
Enforced expression with the pTarget-HDAC9 vector produced a dose -dependent 2.5-fold increase in Î³- globin mRNA (p (bvsalud.org)
Moreover, enforced HDAC9 expression increased Î³- globin mRNA levels by 2.5-fold with a simultaneous 7-fold increase in HbF. (bvsalud.org)
Which globin mRNAs and rRNAs are depleted with the NEBNext® Globin mRNA & rRNA Depletion Kit (Human/Mouse/Rat)? (neb.sg)

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)
Sickle cell disease (SCD) is a genetic condition typically caused by a single point mutation in both copies of the beta-globin (HBB) gene, resulting in sickle (S) hemoglobin (HbS) production instead of adult (A) hemoglobin (HbA). (confex.com)
Adult HEMOGLOBIN is comprised of two ALPHA-GLOBIN chains and two beta-globin chains. (rush.edu)
As Globin Solutions and the University of Pittsburgh have continued their discovery-based research collaboration, we have created modified hemoglobin molecules, originally isolated from expired human donor packed red blood cells, that have demonstrated high affinity for carbon monoxide (GSI-1901 and GSI-2001). (globinsolutions.com)
Predominant vertebrate peptides in all if questing ticks were examined not only for infection but pools were - and -globin chains of hemoglobin and im- also for the source of the last blood meal because the tick munoglobulins. (cdc.gov)
Strategies to induce fetal hemoglobin (HbF) synthesis for the treatment of ß- hemoglobinopathies probably involve protein modifications by histone deacetylases (HDACs) that mediate Î³- globin gene regulation . (bvsalud.org)
This is accomplished by using hemoglobin (Hb), a tetramer protein composed of heme and globin. (medscape.com)
8. Miller YI, Altamentova SM, Shaklai N. Oxidation of low-density lipoprotein by hemoglobin stems from a heme-initiated globin radical. (bvsalud.org)
MatthiasThursday, 13 September 2012 08:53:55 UTCWe have removed in our watch some moral UI melanoma for some protocol hemoglobin globins, and the Express multi-media suggests not more than preceding for our different security. (robertfischer.name)
After infusion, transduced CD34+ HSCs engraft in bone marrow and differentiate to produce RBCs containing biologically active beta A-T87Q -globin (a modified beta-globin protein) that combines with alpha globin to produce functional hemoglobin containing beta A-T87Q -globin (Hb A-T87Q ). (medscape.com)

This gene provides instructions for making a protein called beta-globin. (medlineplus.gov)
Modeling and superposition of multiple protein structures using affine transformations: analysis of the globins. (duke.edu)
DNA-protein binding studies established Stat3 interaction in the 5′-untranslated γ-globin promoter region. (elsevier.com)
Since the purified protein exhibited sequence homology to beta globin, globin was also isolated from rat blood by acid-acetone precipitation and was purified on Superdex-75 column in FPLC. (ias.ac.in)
Results obtained suggest that globin or globin-related protein present in the PMNs supernatant inhibits platelet aggregation response. (ias.ac.in)
Each haemoglobin molecule consists of four iron-containing parts ( haems ) and four protein chains ( globins ). (encyclopedia.com)

They include epsilon-globin, gamma-globin, delta-globin and beta-globin. (rush.edu)
Delta globin gene variations leading to reduction in HbA levels. (cdc.gov)

Histone deacetylase 9 activates gamma-globin gene expression in primary erythroid cells. (bvsalud.org)

We have delineated the hypersensitive site located 10.5 kbp upstream of the epsilon-globin gene by short range DNase I sensitivity mapping to a 600 bp region. (eur.nl)

It has been demonstrated that increased embryonic globin (ε-globin) gene expression, similar to fetal globin (γ-globin), can ameliorate the severity of SCD and β-thalassemia in mice. (cipsm.de)
We also found that SUV4-20h1 repressed embryonic globin gene expression in mice, suggesting a conserved role for SUV4-20h1 during mammalian evolution. (cipsm.de)

Herein, we show that a histone lysine methyltransferase, SUV4-20h1, plays a critical role in silencing ε-globin gene expression in both K562 cells and primary erythroid progenitor cells. (cipsm.de)

Research efforts to establish therapeutic modalities for treating sickle cell disease (SCD) and β-thalassemia have been hindered by our incomplete understanding of the developmental regulation of human β-like globin gene expression. (cipsm.de)
Potentially Therapeutic Levels of Anti-Sickling Globin Gene Expression Following Lentivirus-mediated Gene Transfer in Sickle Cell Disease Bone Marrow CD34(+)Cells. (stembook.org)
A single therapeutic base edit of the BCL11A enhancer prevented sickling and ameliorated globin chain imbalance in erythroid progeny from sickle cell disease and β-thalassemia patient-derived HSPCs, respectively. (nature.com)
Sickle cell disease (SCD) is caused by a point mutation in the β-globin gene and can be cured by the replacement of hematopoietic stem cells (HSCs). (cell.com)

Total proteins were precipitated in 95% ethanol at components, including - and -globin chains, histones, and -20°C and recovered by centrifugation. (cdc.gov)
Cole, LJ, Huston, WM & Moir, JWB 2008, Delivery of nitric oxide for analysis of the function of cytochrome c' . in GLOBINS AND OTHER NITRIC OXIDE-REACTIVE PROTEINS, PT A. Elsevier, SAN DIEGO, pp. 21-33. (york.ac.uk)
A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure. (bvsalud.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)
Origin and Expansion of Four Different Beta Globin Mutations in a Single Arab Village. (aravindachakravartilab.org)
Zlotogora J, Hujerat Y, Zalman L, Barges S, Filon D, Koren A, Shalev SA, Chakravarti A: Origin and Expansion of Four Different Beta Globin Mutations in a Single Arab Village. (aravindachakravartilab.org)
0 0 aravinda-admin aravinda-admin 2005-05-08 20:45:05 2022-06-11 17:23:55 Origin and Expansion of Four Different Beta Globin Mutations in a Single Arab Village. (aravindachakravartilab.org)
First report of the spectrum of d-globin gene mutations in Omani subjects - identification of novel mutations. (cdc.gov)

These results identify SUV4-20h1 as a novel epigenetic suppressor of ε-globin gene expression implying a potential alternative therapeutic approach for the treatment of β-thalassemia and SCD. (cipsm.de)
This test can be used to detect the presence or 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. (fantesti.co)
DNA isolated from the spleen of a patient with β + thalassemia contained a number of globin gene copies similar to that of normal DNA. (mssm.edu)
thalassemia caused by novel start codon variant in conjunct with right deletion variant of ?2-globin gene]. (cdc.gov)

A novel deletion of the entire alpha-globin gene cluster in a British individual. (ox.ac.uk)
The co-inheritance of a single 3.7 kb Î±- globin deletion was found in 42.3% of cases (n=11). (bvsalud.org)

The studies also suggest that lack of strong heme-globin binding does not hinder the synthesis of globin chains. (jci.org)
Thalassemias are characterized by decreased production of globin (alpha and beta) chains. (medscape.com)

We demonstrated previously γ-globin gene inhibition in K562 cells and primary erythroid progenitors treated with interleukin-6. (elsevier.com)

globin genotypes. (cdc.gov)

A 6.0-kb DNA fragment from Gorilla gorilla including the 5′ part of the β-globin gene and about 4.5 kb of its upstream flanking region was cloned and sequenced. (archives-ouvertes.fr)
Furthermore, ChIP assays showed HDAC9 binding in vivo in the upstream GÎ³- globin gene promoter region . (bvsalud.org)

One of the iconic (yet enigmatic) arguments for human-ape common ancestry has been the β-globin pseudogene (HBBP1). (icr.org)

These results cast a new light on the primate α-globin gene family, and have intriguing implications for the existence of previously unreported, functional globin-like gene(s) in the primate genomes. (elsevier.com)

Assuming the rates of reannealing of complementary DNA and cellular DNA are similar, the extent of hybridization of complementary DNA at various ratios of cellular DNA to complementary DNA indicate that there are fewer than 10 globin gene copies per haploid human genome. (mssm.edu)

Superfamilia de proteínas que contienen el pliegue de globina, que está compuesto de 6 a 8 hélices alfa dispuestas en una estructura característica que encierra el HEME. (bvsalud.org)

Plasmids encoding -globin cDNA (cG), Smad cDNA (cS) had been referred to previously (20,21). (biotech2012.org)

Haplotypes of the Alpha-Globin Gene Regulatory Element in two Brazilian Native Populations. (bvsalud.org)

Biochemical evidence for functionality is indicated by multiple categories of functional genomics data showing that the HBBP1 gene is transcriptionally active and a key interactive component of the β-globin gene network. (icr.org)
Betibeglogene autotemcel is an autologous one-time gene therapy that adds functional copies of a modified beta-globin gene into the patients' hematopoietic stem cells (HSCs) through transduction of autologous CD34+ cells with BB305 lentiviral vector (LVV). (medscape.com)

We report here the complete nucleotide sequence of a gene located immediately downstream from the adult α1-globin gene of the orang-utan, along with its flanking DNA. (elsevier.com)
The putative polypeptide is 141 amino acids long, identical to that of the α- or ζ-globin, but its predicted amino-acid sequence is nearly as different from the orang-utan α-globin (55 differences) as the human ζ-globin is from the human α-globin (59 differences), suggesting an ancient history for the θ1 -globin gene. (elsevier.com)

Recently, we have isolated the adult α-globin gene region from orang-utan, olive baboon and rhesus macaque by molecular cloning. (elsevier.com)

No evidence was found to suggest heterogeneity of genetic linkage between alpha-globin and the APKD locus in this population. (ox.ac.uk)

Methylene violet staining for the evaluation of HbH-IBs' reduction, in HbH RBCs upon incubation with 10xHisXa SITE -TAT-α-globin-HA. (biomedcentral.com)
A Untreated HbH patient's RBCs, and B HbH patient's RBCs incubated with IBs, enriched in 10xHis-Xa SITE -TAT-α-globin-HA, for 48 h. (biomedcentral.com)

Therefore, elucidating the molecular mechanism of ε-globin gene silencing is of biologic and clinical importance. (cipsm.de)
characterized by a decrease or complete absence of As a chronic disorder, thalassaemia is a clinical and globin chain production ( 1 ). (who.int)

Dikshit, Madhu (2002) Inhibition of platelet aggregation by rat globin Thrombosis Research: Vascular Obstruction, Hemorrhage and Hemostasis, 107 (5). (ias.ac.in)

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. (icr.org)
RePub, Erasmus University Repository: Detailed analysis of the site 3 region of the human β-globin Dominant Control Region. (eur.nl)
CRISPR/Cas9 β-globin gene targeting in human haematopoietic stem cells. (nature.com)
The primer mix amplifies essentially all HPV types found in the genital tract along with the human β-globin gene. (cdc.gov)

Sickle cell anemia is caused by a point mutation on the DNA of the beta-globin chain. (medscape.com)

An alternative analysis of the data, which introduces no assumptions concerning the relative rates of reaction of complementary DNA and cellular DNA, indicates fewer than 20 globin gene copies are present. (mssm.edu)

beta-Globins" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (rush.edu)

Methemoglobinemia, beta-globin type is a condition that affects the function of red blood cells. (medlineplus.gov)
The signs and symptoms of methemoglobinemia, beta-globin type are generally limited to cyanosis, which does not cause any health problems. (medlineplus.gov)
The incidence of methemoglobinemia, beta-globin type is unknown. (medlineplus.gov)
We therefore conclude that a combination of factor binding sites is necessary to allow site 3 to function as a strong transcriptional activator, resulting in position independent expression of the beta-globin gene. (eur.nl)
Beta thalassaemia intermedia due to co-inheritance of three unique alpha globin cluster duplications characterised by next generation sequencing analysis. (ox.ac.uk)
Members of the beta-globin family. (rush.edu)
This graph shows the total number of publications written about "beta-Globins" by people in this website by year, and whether "beta-Globins" was a major or minor topic of these publications. (rush.edu)
Below are the most recent publications written about "beta-Globins" by people in Profiles. (rush.edu)
Globin-gene mapping of DNA from 13 families with normal Hb A2 beta-thalassaemia (both type 1 and type 2) failed to detect any difference from normal in their globin-gene arrangement. (ox.ac.uk)
Seven polymorphic sites in the beta-globin gene cluster were analyzed on a sample of 96 chromosomes of Venezuelan sickle cell patients from the State of Aragua. (embrapa.br)
The factor involved behind the sickling of RBC is the mutant of Beta Globin cistron located in chromosome 11. (freebooksummary.com)
About one 3rd autochthonal people of Sub- Saharan Africa bear this mutated Beta globin cistron. (freebooksummary.com)
globin cistron of chromosome 11, which consequences in the permutation of hydrophilic glutamic acidA to hydrophobic A valineA at the 6th place gives rise to mutated beta hematohiston sub unit. (freebooksummary.com)

No evidence was obtained for the existence of "slow points" in the process of globin chain assembly. (jci.org)

We demonstrate that alpha globin variation in M. fascicularis correlates with the strength of malaria selection. (biorxiv.org)

Results show that most helices in globins can be identified by high curvature, with the exception of the C and D helices. (duke.edu)
Analysis of the superposition reveals that globins are most strongly conserved structurally in the mid-regions of the E and G helices. (duke.edu)

we observed 40 and 60% Î³- globin gene silencing in day 11 (early) and day 28 (late) progenitors. (bvsalud.org)

Samples that were negative for HPV and the β-globin control indicated lack of a suitable sample and were considered inadequate for interpretation (Linear Array HPV Genotyping Test Application manual, 2008). (cdc.gov)

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...