A superfamily of proteins containing the globin fold which is composed of 6-8 alpha helices arranged in a characterstic HEME enclosing structure.
A bibliographic database that includes MEDLINE as its primary subset. It is produced by the National Center for Biotechnology Information (NCBI), part of the NATIONAL LIBRARY OF MEDICINE. PubMed, which is searchable through NLM's Web site, also includes access to additional citations to selected life sciences journals not in MEDLINE, and links to other resources such as the full-text of articles at participating publishers' Web sites, NCBI's molecular biology databases, and PubMed Central.
A publication issued at stated, more or less regular, intervals.
"The business or profession of the commercial production and issuance of literature" (Webster's 3d). It includes the publisher, publication processes, editing and editors. Production may be by conventional printing methods or by electronic publishing.
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.
The premier bibliographic database of the NATIONAL LIBRARY OF MEDICINE. MEDLINE® (MEDLARS Online) is the primary subset of PUBMED and can be searched on NLM's Web site in PubMed or the NLM Gateway. MEDLINE references are indexed with MEDICAL SUBJECT HEADINGS (MeSH).
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.
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)
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.
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.
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.
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.
Temporary visual deficit or impaired visual processing occurring in a rapid serial visual presentation task. After a person identifies the first of two visual targets, the ability to detect the second target is impaired for the next few hundred milliseconds. This phenomenon is called attentional blink.
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 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.
The practice of compounding and dispensing medicinal preparations.
Normal adult human hemoglobin. The globin moiety consists of two alpha and two beta chains.
A compound formed by the combination of hemoglobin and oxygen. It is a complex in which the oxygen is bound directly to the iron without causing a change from the ferrous to the ferric state.
Proteins prepared by recombinant DNA technology.
The scattering of x-rays by matter, especially crystals, with accompanying variation in intensity due to interference effects. Analysis of the crystal structure of materials is performed by passing x-rays through them and registering the diffraction image of the rays (CRYSTALLOGRAPHY, X-RAY). (From McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)
The study of crystal structure using X-RAY DIFFRACTION techniques. (McGraw-Hill Dictionary of Scientific and Technical Terms, 4th ed)
The formation of crystalline substances from solutions or melts. (McGraw-Hill Dictionary of Scientific and Technical Terms, 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.
The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA.
The Alu sequence family (named for the restriction endonuclease cleavage enzyme Alu I) is the most highly repeated interspersed repeat element in humans (over a million copies). It is derived from the 7SL RNA component of the SIGNAL RECOGNITION PARTICLE and contains an RNA polymerase III promoter. Transposition of this element into coding and regulatory regions of genes is responsible for many heritable diseases.
A member of the beta-globin family. In humans, delta-globin is encoded in the beta-globin gene cluster located on CHROMOSOME 11. Two delta-globin chains along with two alpha-globin chains form HEMOGLOBIN A2 which makes up about 3% of the HEMOGLOBIN in adults.
DNA-binding motifs formed from two alpha-helixes which intertwine for about eight turns into a coiled coil and then bifurcate to form Y shaped structures. Leucines occurring in heptad repeats end up on the same sides of the helixes and are adjacent to each other in the stem of the Y (the "zipper" region). The DNA-binding residues are located in the bifurcated region of the Y.
Endogenous substances, usually proteins, which are effective in the initiation, stimulation, or termination of the genetic transcription process.
A class of proteins that were originally identified by their ability to bind the DNA sequence CCAAT. The typical CCAAT-enhancer binding protein forms dimers and consists of an activation domain, a DNA-binding basic region, and a leucine-rich dimerization domain (LEUCINE ZIPPERS). CCAAT-BINDING FACTOR is structurally distinct type of CCAAT-enhancer binding protein consisting of a trimer of three different subunits.
The biosynthesis of RNA carried out on a template of DNA. The biosynthesis of DNA from an RNA template is called REVERSE TRANSCRIPTION.
Proteins which bind to DNA. The family includes proteins which bind to both double- and single-stranded DNA and also includes specific DNA binding proteins in serum which can be used as markers for malignant diseases.
DNA sequences which are recognized (directly or indirectly) and bound by a DNA-dependent RNA polymerase during the initiation of transcription. Highly conserved sequences within the promoter include the Pribnow box in bacteria and the TATA BOX in eukaryotes.
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.

Correction of sickle cell disease in transgenic mouse models by gene therapy. (1/262)

Sickle cell disease (SCD) is caused by a single point mutation in the human betaA globin gene that results in the formation of an abnormal hemoglobin [HbS (alpha2betaS2)]. We designed a betaA globin gene variant that prevents HbS polymerization and introduced it into a lentiviral vector we optimized for transfer to hematopoietic stem cells and gene expression in the adult red blood cell lineage. Long-term expression (up to 10 months) was achieved, without preselection, in all transplanted mice with erythroid-specific accumulation of the antisickling protein in up to 52% of total hemoglobin and 99% of circulating red blood cells. In two mouse SCD models, Berkeley and SAD, inhibition of red blood cell dehydration and sickling was achieved with correction of hematological parameters, splenomegaly, and prevention of the characteristic urine concentration defect.  (+info)

Gene Therapy for beta-thalassemia. (2/262)

Gene transfer for beta-thalassemia requires gene transfer into hematopoietic stem cells using integrating vectors that direct regulated expression of beta globin at therapeutic levels. Among integrating vectors, oncoretroviral vectors carrying the human beta-globin gene and portions of the locus control region (LCR) have suffered from problems of vector instability, low titers and variable expression. In recent studies, human immunodeficiency virus-based lentiviral (LV) vectors were shown to stably transmit the human beta-globin gene and a large LCR element, resulting in correction of beta-thalassemia intermedia in mice. Several groups have since demonstrated correction of the mouse thalassemia intermedia phenotype, with variable levels of beta-globin expression. These levels of expression were insufficient to fully correct the anemia in thalassemia major mouse model. Insertion of a chicken hypersensitive site-4 chicken insulator element (cHS4) in self-inactivating (SIN) LV vectors resulted in higher and less variable expression of human beta-globin, similar to the observations with cHS4-containing retroviral vectors carrying the human gamma-globin gene. The levels of beta-globin expression achieved from insulated SIN-LV vectors were sufficient to phenotypically correct the thalassemia phenotype from 4 patients with human thalassemia major in vitro, and this correction persisted long term for up to 4 months, in xeno-transplanted mice in vivo. In summary, LV vectors have paved the way for clinical gene therapy trials for Cooley's anemia and other beta-globin disorders. SIN-LV vectors address several safety concerns of randomly integrating viral vectors by removing viral transcriptional elements and providing lineage-restricted expression. Flanking the proviral cassette with chromatin insulator elements, which additionally have enhancer-blocking properties, may further improve SIN-LV vector safety.  (+info)

Intergenic transcription, cell-cycle and the developmentally regulated epigenetic profile of the human beta-globin locus. (3/262)

Several lines of evidence have established strong links between transcriptional activity and specific post-translation modifications of histones. Here we show using RNA FISH that in erythroid cells, intergenic transcription in the human beta-globin locus occurs over a region of greater than 250 kb including several genes in the nearby olfactory receptor gene cluster. This entire region is transcribed during S phase of the cell cycle. However, within this region there are approximately 20 kb sub-domains of high intergenic transcription that occurs outside of S phase. These sub-domains are developmentally regulated and enriched with high levels of active modifications primarily to histone H3. The sub-domains correspond to the beta-globin locus control region, which is active at all developmental stages in erythroid cells, and the region flanking the developmentally regulated, active globin genes. These results correlate high levels of non-S phase intergenic transcription with domain-wide active histone modifications to histone H3.  (+info)

Cis-cotranscription of two beta globin genes during chicken primitive hematopoiesis. (4/262)

Chicken beta globin locus contains four genes, two of which, rho and epsilon, are expressed from the earliest stage of primitive hematopoiesis. Here we show that the transcription of these two genes in the nucleus engages in "on/off" phases. During each "on" phase, cotranscription of rho and epsilon in cis is favored. We propose that these two chicken beta globin genes are transcribed not by competing for a transcription initiation complex, but in a cooperative way.  (+info)

BP1 motif in the human beta-globin promoter affects beta-globin expression during embryonic/fetal erythropoiesis in transgenic mice bearing the human beta-globin gene. (5/262)

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Epigenetics of beta-globin gene regulation. (6/262)

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PNA-peptide conjugates as intracellular gene control agents. (7/262)

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New genes originated via multiple recombinational pathways in the beta-globin gene family of rodents. (8/262)

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beta-Globins: 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.
View Hbb/Hbb Tg(HBB-AR-HBA2,-HBB*)58Rub/0 Tg(LCR-HBA2,LCR-HBB)11Cos/0 involves: FVB/N * Swiss Webster: phenotypes, images, diseases, and references.
Author: Gleixner, E. et al.; Genre: Journal Article; Published in Print: 2008-09; Open Access; Keywords: globin;hyperoxia; hypoxia; respiration; tracheae|br/|; Title: Oxygen-induced changes in hemoglobin expression in Drosophila.
Chromosome conformation capture (3C) technologies can be used to investigate 3D genomic structures. However, high background noise, high costs, and a lack of straightforward noise evaluation in current methods impede the advancement of 3D genomic research. Here we developed a simple digestion-ligation-only Hi-C (DLO Hi-C) technology to explore the 3D landscape of the genome. This method requires only two rounds of digestion and ligation, without the need for biotin labeling and pulldown. Non-ligated DNA was efficiently removed in a cost-effective step by purifying specific linker-ligated DNA fragments. Notably, random ligation could be quickly evaluated in an early quality-control step before sequencing. Moreover, an in situ version of DLO Hi-C using a four-cutter restriction enzyme has been developed. We applied DLO Hi-C to delineate the genomic architecture of THP-1 and K562 cells and uncovered chromosomal translocations. This technology may facilitate investigation of genomic organization, gene
Accumulating evidence converges on the possibility that chromosomes interact with each other to regulate transcription in trans. To systematically explore the epigenetic dimension of such interactions, we devised a strategy termed circular chromosome conformation capture (4C). This approach involves …
We have constructed a minilocus that contains the 5 and 3 flanking regions of the human beta-globin locus and the beta-globin gene. These regions are characterized by erythroid-specific DNAase I-superhypersensitive sites and are normally located approximately 50 kb 5 and 20 kb 3 of the beta-gl …
Takaras Human Beta-globin Control Primer Set contains a set of PCR primers that recognizes the human beta-globin gene at chromosome 11. Beta-globin makes up about half of the human hemoglobin tertrameric protein; in the normal human adult, the hemoglobin tetramer consists of two alpha chains and two beta chains. The Human Beta-globin Control Primer Set may be used as a experimental control during protocols such as PCR ...
Dekker J, Rippe K, Dekker M, Kleckner N. Capturing chromosome conformation. Science. 2002 Feb 15;295(5558):1306-11. Dostie J, Richmond TA, Arnaout RA, Selzer RR, Lee WL, Honan TA, Rubio ED, Krumm A, Lamb J, Nusbaum C et al. Chromosome Conformation Capture Carbon Copy (5C): a massively parallel solution for mapping interactions between genomic elements. Genome Res. 2006 Oct;16(10):1299-309. Fullwood MJ, Han Y, Wei CL, Ruan X, Ruan Y. Chromatin interaction analysis using paired-end tag sequencing. Curr Protoc Mol Biol. 2010 Jan;Chapter 21:Unit 21.15.1-25. Li G, Fullwood MJ, Xu H, Mulawadi FH, Velkov S, Vega V, Ariyaratne PN, Mohamed YB, Ooi HS, Tennakoon C et al. ChIA-PET tool for comprehensive chromatin interaction analysis with paired-end tag sequencing. Genome Biol. 2010;11(2):R22. ...
Papillary meningiomas are rare meningeal tumors which are associated with a grim prognosis. These tumors usually recur locally and in some cases they metastasize. The clinical, radiological and histopathological features of a case of a papillary meningioma with a pleural metastasis in a 13-year-old boy are presented. The literature on metastasizing papillary meningiomas is reviewed. Up to now, 131 cases of papillary meningioma have been reported in the literature. Only 8 cases gave rise to metastases outside the central nervous system. The preferential site of metastasis appeared to be the lung. This is the first report of a papillary meningioma giving rise to a metastasis in the pleura.. ...
TY - JOUR. T1 - Modulation of mouse hemoglobin expression by hydroxyurea and erythropoietin in vivo.. AU - Alter, B. P.. AU - Wagner, C. K.. AU - Susser, L. S.. AU - Weinberg, R. S.. PY - 1989. Y1 - 1989. UR - http://www.scopus.com/inward/record.url?scp=0024795799&partnerID=8YFLogxK. UR - http://www.scopus.com/inward/citedby.url?scp=0024795799&partnerID=8YFLogxK. M3 - Article. C2 - 2616578. AN - SCOPUS:0024795799. VL - 316 B. SP - 317. EP - 325. JO - Progress in Clinical and Biological Research. JF - Progress in Clinical and Biological Research. SN - 0361-7742. ER - ...
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Click to launch & play an online audio visual presentation by Dr. Ann Dean on The beta-globin locus, part of a collection of online lectures.
Our chromosome conformation capture kit simplifies chromatin folding studies enabling determination of DNA contact frequencies and chromosome conformation
Imaging and chromosome conformation capture studies have revealed several layers of chromosome organization, including segregation into megabase-sized active
human beta-globin gene inhibits pre-mRNA splicing: a mechanism for beta+-thalassemia. Proc. Natl. Acad. Sci. U.S.A. 86 (3): 1041-5. doi:10.1073/pnas. ...
How is Happy Birthday Brother abbreviated? HBB stands for Happy Birthday Brother. HBB is defined as Happy Birthday Brother very frequently.
Recent evidence suggests that long-range enhancers and gene promoters are in close proximity, which might reflect the formation of chromatin loops. Here, we examined the mechanism for DNA looping at the beta-globin locus. By using chromosome conformation capture (3C), we show that the hematopoietic transcription factor GATA-1 and its cofactor FOG-1 are required for the physical interaction between the beta-globin locus control region (LCR) and the beta-major globin promoter. Kinetic studies reveal that GATA-1-induced loop formation correlates with the onset of beta-globin transcription and occurs independently of new protein synthesis. GATA-1 occupies the beta-major globin promoter normally in fetal liver erythroblasts from mice lacking the LCR, suggesting that GATA-1 binding to the promoter and LCR are independent events that occur prior to loop formation. Together, these data demonstrate that GATA-1 and FOG-1 are essential anchors for a tissue-specific chromatin loop, providing general insights into
Four distinct factors in extracts from murine erythroleukemia (MEL) cells interacted with the human beta-globin gene promoter CAAT box: CP1, GATA-1, and two novel factors, denoted a and b, one of which is highly inducible in the MEL system. GATA-1 binding to the CAAT element was very unstable (half-life | 1 min), whereas bindings of a, b, and CP1 were comparatively stable, with half-lives of 18, 19, and 3.5 min, respectively. Stable transfections of MEL cells showed that in the presence of the beta-globin locus control region (LCR), the wild-type CAAT box, a mutant which bound to GATA-1 with increased stability over the normal sequences, and a mutant which bound a, b, and CP1 specifically could all stimulate transcription greater than ninefold over that induced by a null CAAT mutation in both uninduced and terminally differentiated MEL cells. A mutant which bound the a and b factors specifically gave only a twofold stimulation of promoter activity, and this lower activity correlated with a decrease in
S. Svasti, Suwanmanee, T., Fucharoen, S., Moulton, H. M., Nelson, M. H., Maeda, N., Smithies, O., and Kole, R., RNA repair restores hemoglobin expression in IVS2-654 thalassemic mice., Proceedings of the National Academy of Sciences of the United States of America, vol. 106, no. 4, pp. 1205-10, 2009. ...
1DXV: High-resolution X-ray study of deoxy recombinant human hemoglobins synthesized from beta-globins having mutated amino termini.
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2006年04月, DNA Structure, Chromatin and Gene Expression, Chapter 14, Involvement of nuclear matrix and chromatin loop formation in the function of insulators., Transworld Research Network, 2006年, 04, 単行本(学術書), 共編著, Akasaka K. , ...
Reactivation of fetal hemoglobin (HbF) in adults ameliorates the severity of the common β-globin disorders. The transcription factor BCL11A is a critical modulator of hemoglobin switching and HbF silencing, yet the molecular mechanism through which BCL11A coordinates the developmental switch is incompletely understood. Particularly, the identities of BCL11A cooperating protein complexes and their roles in HbF expression and erythroid development remain largely unknown. Here we determine the interacting partner proteins of BCL11A in erythroid cells by a proteomic screen. BCL11A is found within multiprotein complexes consisting of erythroid transcription factors, transcriptional corepressors, and chromatin-modifying enzymes. We show that the lysine-specific demethylase 1 and repressor element-1 silencing transcription factor corepressor 1 (LSD1/CoREST) histone demethylase complex interacts with BCL11A and is required for full developmental silencing of mouse embryonic β-like globin genes and human γ
High-throughput interaction data from novel chromosome interaction assays has become a staple in genomics research. Methods such as high-throughput chromosome conformation capture (Hi-C) and chromatin interaction analysis by paired-end tag sequencing (ChIA-PET) provide researchers with a way of quantifying three-dimensional chromatin architecture, while also gaining insights into which regions in the genome are interacting frequently. A common downstream data-type from these experimental methods is chromatin loop data. Loops are inferred by marking regions in the genome with high frequency of interaction compared to a background. Typically, we are interested in loops because they provide an insulated environment for interaction of genomic regions, as well as a direct mode of contact for regions near the loop anchors. A classic canonical chromatin loop interaction is one that involves enhancer-promoter interactions in the regulation of gene expression. Therefore, a very common workflow involving ...
Chromosomes are folded in the nuclues according to a specific code. This 3D structure of the chromatin directly affects the regulation of genes by facilitating and restricting the contacts regulatory elements can make. Chromosome conformations capture (3C) technologies (4C and HiC) are used by us to measure and visualize chromatin folding and how it is altered by mutations. We study the mechanisms and rules of chromatin folding in vivo in cells/tissues from mouse embryos. This allows us to be a close as possible to the developmental processes and the diseases that are of interest to us. Mutations are produced by genome editing with CRISPR/Cas9 in mouse embryonic stem (ES) cells and mice are then generated by ES cell aggregation. We use the developing limb as a model system to study how gene regulation changes and directs morphogenesis. The limb has many advantages for this sort of study as it is accessible and the developmental steps and the major genes/molecular mechanisms are known. This ...
Recent advances in high-throughput chromosome conformation capture (3C) technology, such as Hi-C and ChIA-PET, have demonstrated the importance of 3D genome organization in development, cell differentiation and transcriptional regulation. There is now a widespread need for computational tools to generate and analyze 3D structural models from 3C data. Here we introduce our 3D GeNOme Modeling Engine (3D-GNOME), a web service which generates 3D structures from 3C data and provides tools to visually inspect and annotate the resulting structures, in addition to a variety of statistical plots and heatmaps which characterize the selected genomic region. Users submit a bedpe (paired-end BED format) file containing the locations and strengths of long range contact points, and 3D-GNOME simulates the structure and provides a convenient user interface for further analysis. Alternatively, a user may generate structures using published ChIA-PET data for the GM12878 cell line by simply specifying a genomic region of
In chromosome conformation capture experiments (Hi-C), the accuracy with which contacts are detected varies due to the uneven distribution of restriction
The human HBB complex sequence is a compilation of sequences. Most of the sequences flanking the beta-like globin genes and LCR were determined by Mike Bulger in the Groudine lab, and he generated this compilation. A minimal tiling path of GenBank sequences that in combination will make something close to this compilation (after removing overlaps) is accession numbers AF137396, AF064190, U01317, AF137131, X54282, AF289203 and AF289204. THERE IS A ROUGHLY 6 KB GAP IN THE HUMAN SEQUENCE at position 344746. The gene HOR3beta3 and the 3 breakpoint for the Chinese thalassemia deletion precede this gap, and the 3 breakpoint for HPFH1 and the gene HOR3beta4 follow this gap. This gap was resistant to cloning and sequencing in multiple attempts. The Celera contig also ends in roughly this region. ...
Abstract. Mutations within exon 3 of the beta-globin gene are relatively uncommon, and many of these mutations produce a dominant thalassemia- like phenotype.
Cell-free DNA is detected in blood in many diseases, but also in healthy individuals. Cell-free DNA can originate from necrotic cells or apoptotic …
Question - Medication for Beta-thalassemia. Ask a Doctor about diagnosis, treatment and medication for Thalassemia, Ask a Pediatrician
The HBB gene encodes the β-globin component of hemoglobin. Mutations in this gene affect the shape and functionality of hemoglobin ...
TY - JOUR. T1 - ζ-/-thalassemic mice are affected by two modifying loci and display unanticipated somatic recombination leading to inherited variation. AU - Leder, Aya. AU - McMenamin, Jennifer. AU - Fontaine, Karen. AU - Bishop, Alexander. AU - Leder, Philip. PY - 2005/3/1. Y1 - 2005/3/1. N2 - Thalassemia is a disease caused by a variety of mutations affecting both the adult and embryonic α- and β-globin loci. A mouse strain carrying an embryonic ζ-globin gene disrupted by the insertion of a PGK-Neo cassette displays an α-thalassemia-like syndrome. Embryonic survival of this ζ-null mouse is variable and strongly influenced by genetic background, the 129/SvEv mouse strain displaying a more severe phenotype than C57BL/6. We have identified two modifying loci on C57BL/6 chromosomes 2 and 5, which affect the penetrance of embryonic lethality in the 129/SvEv mouse. Through this work, we were able to observe an interesting effect on somatic recombination events in thalassemic embryos. We show ...
Animal models of β-hemoglobinopathies: utility and limitations Bradley McColl, Jim Vadolas Cell and Gene Therapy Laboratory, Murdoch Childrens Research Institute, Royal Childrens Hospital, Parkville, VIC, Australia Abstract: The structural and functional conservation of hemoglobin throughout mammals has made the laboratory mouse an exceptionally useful organism in which to study both the protein and the individual globin genes. Early researchers looked to the globin genes as an excellent model in which to examine gene regulation - bountifully expressed and displaying a remarkably consistent pattern of developmental activation and silencing. In parallel with the growth of research into expression of the globin genes, mutations within the β-globin gene were identified as the cause of the β-hemoglobinopathies such as sickle cell disease and β-thalassemia. These lines of enquiry stimulated the development of transgenic mouse models, first carrying individual human globin genes and then substantial
To test whether human GATA-1 (hGATA-1) is involved in the transcriptional control of globin gene switching, transgenic mice were produced overexpressing hGATA-1. These were crossed with mice carrying a human beta-globin locus yeast artificial chromosome (beta YAC), and globin gene expression was analyzed in their progeny. Mice carrying both the hGATA-1 and the beta YAC transgenes have normal levels of gamma- and beta-globin mRNA, with no distortion in the rate or in the timing of gamma-to-beta switch, indicating that hGATA-1 is not involved in the developmental control of gamma- and beta-globin genes. In contrast, mice carrying the hGATA-1 and the beta YAC transgenes have 5- to 6-fold lower expression of the human epsilon globin gene compared with beta YAC mice lacking the hGATA-1 transgene. These results provide direct in vivo evidence that hGATA-1 is a specific repressor of human epsilon gene expression. These findings also suggest that binary transgenic mouse systems based on overexpression ...
[Molecular mechanisms of globin gene regulation and disregulation].: Human globin genes are expressed in tissue and developmental stage specific manners. Variou
For a molecule with two titrateable groups ($ \mathrm{HB_\alpha B_\beta H}$) and the following equilibrium constants $$ \mathrm{HBBH \rightleftharpoons BBH + H^+} \ \ K_{\alpha1}$$ $$\mathrm{HBBH \rightleftharpoons HBB + H^+} \ \ K_{\beta1}$$ $$ \mathrm{HBB \rightleftharpoons BB + H^+} \ \ K_{\alpha0}$$ $$\mathrm{BBH \rightleftharpoons BB + H^+} \ \ K_{\beta0}$$ The probability of, for example, $\mathrm{BBH}$ is $$ f_{\mathrm{BBH}} =\mathrm{\frac{[BBH]}{[BB]+[BBH]+[HBB]+[HBBH]}= \frac{[BBH]}{\textit{P}}} $$ $f_{\mathrm{BBH}}$ can be rewritten in terms of pK values $$f_{\mathrm{BBH}} = \mathrm{\frac{[BBH]/[BB]}{\textit{P}/[BB]} = \frac{10^{p\textit{K}_{\beta0}-pH}}{\textit{P}/[BB]}} $$ where $$ \mathrm{ \textit{P}/[BB] = 1+10^{p\textit{K}_{\alpha0}-pH}+10^{p\textit{K}_{\beta0}-pH}+ 10^{p\textit{K}_{\alpha0}+p\textit{K}_{\beta1}-2pH}} $$ Similarly, $$ f_{\mathrm{HBB}} = \mathrm{\frac{10^{p\textit{K}_{\alpha0}-pH}}{\textit{P}/[BB]}} $$ and $$ f_{\mathrm{HBBH}} = ...
For a molecule with two titrateable groups ($ \mathrm{HB_\alpha B_\beta H}$) and the following equilibrium constants $$ \mathrm{HBBH \rightleftharpoons BBH + H^+} \ \ K_{\alpha1}$$ $$\mathrm{HBBH \rightleftharpoons HBB + H^+} \ \ K_{\beta1}$$ $$ \mathrm{HBB \rightleftharpoons BB + H^+} \ \ K_{\alpha0}$$ $$\mathrm{BBH \rightleftharpoons BB + H^+} \ \ K_{\beta0}$$ The probability of, for example, $\mathrm{BBH}$ is $$ f_{\mathrm{BBH}} =\mathrm{\frac{[BBH]}{[BB]+[BBH]+[HBB]+[HBBH]}= \frac{[BBH]}{\textit{P}}} $$ $f_{\mathrm{BBH}}$ can be rewritten in terms of pK values $$f_{\mathrm{BBH}} = \mathrm{\frac{[BBH]/[BB]}{\textit{P}/[BB]} = \frac{10^{p\textit{K}_{\beta0}-pH}}{\textit{P}/[BB]}} $$ where $$ \mathrm{ \textit{P}/[BB] = 1+10^{p\textit{K}_{\alpha0}-pH}+10^{p\textit{K}_{\beta0}-pH}+ 10^{p\textit{K}_{\alpha0}+p\textit{K}_{\beta1}-2pH}} $$ Similarly, $$ f_{\mathrm{HBB}} = \mathrm{\frac{10^{p\textit{K}_{\alpha0}-pH}}{\textit{P}/[BB]}} $$ and $$ f_{\mathrm{HBBH}} = ...
For a molecule with two titrateable groups ($ \mathrm{HB_\alpha B_\beta H}$) and the following equilibrium constants $$ \mathrm{HBBH \rightleftharpoons BBH + H^+} \ \ K_{\alpha1}$$ $$\mathrm{HBBH \rightleftharpoons HBB + H^+} \ \ K_{\beta1}$$ $$ \mathrm{HBB \rightleftharpoons BB + H^+} \ \ K_{\alpha0}$$ $$\mathrm{BBH \rightleftharpoons BB + H^+} \ \ K_{\beta0}$$ The probability of, for example, $\mathrm{BBH}$ is $$ f_{\mathrm{BBH}} =\mathrm{\frac{[BBH]}{[BB]+[BBH]+[HBB]+[HBBH]}= \frac{[BBH]}{\textit{P}}} $$ $f_{\mathrm{BBH}}$ can be rewritten in terms of pK values $$f_{\mathrm{BBH}} = \mathrm{\frac{[BBH]/[BB]}{\textit{P}/[BB]} = \frac{10^{p\textit{K}_{\beta0}-pH}}{\textit{P}/[BB]}} $$ where $$ \mathrm{ \textit{P}/[BB] = 1+10^{p\textit{K}_{\alpha0}-pH}+10^{p\textit{K}_{\beta0}-pH}+ 10^{p\textit{K}_{\alpha0}+p\textit{K}_{\beta1}-2pH}} $$ Similarly, $$ f_{\mathrm{HBB}} = \mathrm{\frac{10^{p\textit{K}_{\alpha0}-pH}}{\textit{P}/[BB]}} $$ and $$ f_{\mathrm{HBBH}} = ...
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. 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). 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. However, sodium butyrate did not induce embryonic gene expression when given alone or after treatment with cytosine arabinonucleoside. Sodium butyrate treatment also caused a DNase I-hypersensitive site to be exposed at the 5 end of the ...
The oxygen-transport function of hemoglobin (HB) is thought to have arisen ~500 million years ago, roughly coinciding with the divergence between jawless (Agnatha) and jawed (Gnathostomata) vertebrates. Intriguingly, extant HBs of jawless and jawed vertebrates were shown to have evolved twice, and independently, from different ancestral globin proteins. This raises the question whether erythroid-specific expression of HB also evolved twice independently. In all jawed vertebrates studied to date, one of the Hb gene clusters is linked to the widely expressed Nprl3 gene. Here we show that the nprl3-linked hb locus of a jawless vertebrate, the river lamprey (Lampetra fluviatilis), shares a range of structural and functional properties with the equivalent jawed vertebrate Hb locus. Functional analysis demonstrates that an erythroid-specific enhancer is located in intron 7 of lamprey nprl3, which corresponds to the NPRL3 intron 7 MCS-R1 enhancer of jawed vertebrates. Collectively, our findings signify ...
Levels of fetal hemoglobin (HbF) bearing reticulocytes (F reticulocytes) range from 2% to 50% in patients with sickle cell (SS) anemia. To learn whether any portion of such variation in F cell production is regulated by loci genetically separable from the beta- globin gene cluster, percentages of F reticulocytes were compared in 59 sib pairs composed solely of SS members, including 40 pairs from Jamaica and 19 from the United States. We reasoned that differences in F reticulocyte levels might arise (1) from any of several kinds of artifact, (2) via half-sib status, or (3) because one or more genes regulating F cell production segregate separately from beta S. We minimized the role of artifact by assay of fresh samples from 84 SS individuals, including both members of 38 sib pairs. In 78 of the 84 subjects, serial values for percent F reticulocytes fell within 99.9% confidence limits or were alike by t test (P greater than or equal to .05). This left 32 sib pairs for which F reticulocyte levels ...
951 1234 DNase hypersensitive site 4 4550 4775 DNase hypersensitive site 3 8486 8860 DNase hypersensitive site 2 12752 13769 DNase hypersensitive site 1 116 431 Right Alu 1968 2258 Left Alu 5605 5918 Right Alu 8019 8314 Right Alu 10612 10924 Right Alu 12912 13066 Left L1 14836 15071 Right L1 16918 17218 Left Alu 17940 18231 Right Alu 19486 21080 epsilon-globin gene 19486 19632 Exon 1 19755 19977 Exon 2 20833 21080 Exon 3 23118 31136 Left L1 25885 27987 Left InnerL1 32407 32711 Right Alu 32986 33101 Left L1 34478 36069 G-gamma-globin gene 34478 34622 Exon 1 34745 34967 Exon 2 35854 36069 Exon 3 37921 38039 Left L1 39414 40985 A-gamma-globin gene 39414 39558 Exon 1 39681 39903 Exon 2 40770 40985 Exon 3 42695 43274 Left L1 44788 45108 Right Alu 45658 47272 eta-globin pseudo gene 45658 45800 Exon 1 45922 46144 Exon 2 46997 47272 Exon 3 50895 51198 Left Alu 51976 52276 Right Alu 53222 53540 Left L1 54740 56389 delta-globin gene 54740 54881 Exon 1 55010 55232 Exon 2 56131 56389 Exon 3 62137 63742 ...
Looking for online definition of beta-thalassemia in the Medical Dictionary? beta-thalassemia explanation free. What is beta-thalassemia? Meaning of beta-thalassemia medical term. What does beta-thalassemia mean?
Applications of adenine base editors (ABEs) have been constrained by the limited compatibility of the deoxyadenosine deaminase component with Cas homologs other than SpCas9. We evolved the deaminase component of ABE7.10 using phage-assisted non-continuous and continuous evolution (PANCE and PACE), which resulted in ABE8e. ABE8e contains eight additional mutations that increase activity (kapp) 590-fold compared with that of ABE7.10. ABE8e offers substantially improved editing efficiencies when paired with a variety of Cas9 or Cas12 homologs. ABE8e is more processive than ABE7.10, which could benefit screening, disruption of regulatory regions and multiplex base editing applications. A modest increase in Cas9-dependent and -independent DNA off-target editing, and in transcriptome-wide RNA off-target editing can be ameliorated by the introduction of an additional mutation in the TadA-8e domain. Finally, we show that ABE8e can efficiently install natural mutations that upregulate fetal hemoglobin expression
Cancer researchers have an exciting new tool at their disposal: circulating cell-free DNA (ccfDNA) collected in minimally invasive liquid biopsies. With the potential to provide real-time mutational information about primary and metastatic tumors, cfDNA has significant potential for the detection and monitoring of biomarkers for cancer and other diseases. ...
[107 Pages Report] Check for Discount on United States Insulator Material Market Report 2017 report by QYResearch Group. In this report, the United States Insulator Material market is...
TY - JOUR. T1 - Secretory factors from OP9 stromal cells delay differentiation and increase the expansion potential of adult erythroid cells in vitro. AU - Trakarnsanga, Kongtana. AU - Wilson, Marieangela C.. AU - Heesom, Kate J.. AU - Andrienko, Tatyana N.. AU - Srisawat, Chatchawan. AU - Frayne, Jan. PY - 2018/1/31. Y1 - 2018/1/31. N2 - Development of in vitro culture systems for the generation of red blood cells is a goal of scientists globally with the aim of producing clinical grade products for transfusion. Although mature reticulocytes can be efficiently generated by such systems, the numbers produced fall short of that required for therapeutics, due to limited proliferative capacity of the erythroblasts. To overcome this hurdle, approaches are required to increase the expansion potential of such culture systems. The OP9 mouse stromal cell line is known to promote haematopoietic differentiation of pluripotent stem cells, however an effect of OP9 cells on erythropoiesis has not been ...
TY - JOUR. T1 - Variation in gamma-globin expression before and after induction with hydroxyurea associated with BCL11A, KLF1 and TAL1. AU - Grieco, Amanda J.. AU - Billett, Henny H.. AU - Green, Nancy S.. AU - Driscoll, M. Catherine. AU - Bouhassira, Eric E.. N1 - Publisher Copyright: © 2015 Grieco et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.. PY - 2015/6/8. Y1 - 2015/6/8. N2 - The molecular mechanisms governing γ-globin expression in a subset of fetal hemoglobin (α2γ2: HbF) expressing red blood cells (F-cells) and the mechanisms underlying the variability of response to hydroxyurea induced γ-globin expression in the treatment of sickle cell disease are not completely understood. Here we analyzed intra-person clonal populations of basophilic erythroblasts (baso-Es) derived from bone marrow ...
Current models suggest that tissue-specific genes are arranged in discrete, independently controlled segments of chromatin referred to as regulatory domains. Transition from a closed to open chromatin structure may be an important step in the regulation of gene expression. To determine whether the human alpha-globin cluster, like the beta-globin cluster, lies within a discrete, erythroid-specific domain, we have examined the long-range genomic organization and chromatin structure around this region. The alpha genes lie adjacent to at least four widely expressed genes. The major alpha-globin regulatory element lies 40 kb away from the cluster within an intron of one of these genes. Therefore, unlike the beta cluster, cis-acting sequences controlling alpha gene expression are dispersed within a region of chromatin that is open in both erythroid and nonerythroid cells. This implies a difference in the hierarchical control of alpha- and beta-globin expression.
The KLF1 gene encodes a key transcription factor regulating the developmental switch from fetal to adult globin. Based on previous and recent experimental data it has been hypothesized that after birth high levels of KLF1 activate the HBB gene and BCL11A expression, which in turn suppresses HBG1/HBG2 expression, while in the fetus reduced KLF1 levels result in very low HBB and BCL11A gene expression and therefore in low beta and high gamma globin levels.6 It is interesting to note that subjects II-1 and II-2, with genetic compound for the two KLF1 mutations, have unbalanced alpha/beta globin chain synthesis ratio (i.e. in the beta-thalassemia carrier range), despite having normal beta globin gene sequence and not increased HbA2 levels. The reduced beta globin production and the excess of G-gamma chains partly resembles a late fetal or newborn condition, consistent with the key role of KLF1 in the globin switching. The milder imbalance in II-2 as compared to II-1 is due to the coinheritance of ...
BACKGROUND: The CCTC-binding factor (CTCF) protein is involved in genome organization, including mediating three-dimensional chromatin interactions. Human patient lymphocytes with mutations in a single copy of the CTCF gene have reduced expression of enhancer-associated genes involved in response to stimuli. We hypothesize that CTCF interactions stabilize enhancer-promoter chromatin interaction domains, facilitating increased expression of genes in response to stimuli. Here we systematically investigate this model using computational analyses. RESULTS: We use CTCF ChIA-PET data from the ENCODE project to show that CTCF-associated chromatin loops have a tendency to enclose regions of enhancer-regulated stimulus responsive genes, insulating them from neighboring regions of constitutively expressed housekeeping genes. To facilitate cell type-specific CTCF loop identification, we develop an algorithm to predict CTCF loops from ChIP-seq data alone by exploiting the CTCF motif directionality in loop ...
Here we present HiC-DC, a principled method to estimate the statistical significance (P values) of chromatin interactions from Hi-C experiments. HiC-DC uses hurdle negative binomial regression account for systematic sources of variation in Hi-C read counts-for example, distance-dependent random polymer ligation and GC content and mappability bias-and model zero inflation and overdispersion. Applied to high-resolution Hi-C data in a lymphoblastoid cell line, HiC-DC detects significant interaction
Insulation for direct current transmission is totally different from that of AC transmission. The behavior of local discharge on the insulator is different from that of AC transmission. The problems of ion migration and thermal runaway in the material of the body of the insulator are matters to be considered only in the case of DC applications. To suppress the problems unique to DC and enable the reliable operation of DC power systems, insulators for DC applications require design and materials different from AC applications.. ...
Common coordinate-based workflows involving processed chromatin loop and genomic element data are considered and packaged into appropriate customizable functions. Includes methods for linking element sets via chromatin loops and creating consensus loop datasets. ...
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/PRNewswire/ -- Natera, Inc. (NASDAQ: NTRA), a leader in non-invasive genetic testing and the analysis of circulating cell-free DNA, today reported financial...
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 ...
The five beta-like globin genes are found within a 45 kb cluster on chromosome 11 in the following order: 5' - epsilon - gamma- ... Tuan D, Solomon W, Li Q, London IM (1985). "The "beta-like-globin" gene domain in human erythroid cells". Proc. Natl. Acad. Sci ... 1977). "Human beta-globin messenger RNA. I. Nucleotide sequences derived from complementary RNA". J. Biol. Chem. 252 (14): 5019 ... Ruskin B, Greene JM, Green MR (1985). "Cryptic branch point activation allows accurate in vitro splicing of human beta-globin ...
Isolation and characterization of the complete chicken beta-globin gene region: frequent deletion of the adult beta-globin ... 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 ... Gamma rays and bleomycin nick DNA and reverse the DNase I sensitivity of beta-globin gene chromatin in vivo. Molecular and ...
The order of the genes in the beta-globin cluster is: 5' - epsilon - gamma-G - gamma-A - delta - beta - 3'. GRCh38: Ensembl ... 1977). "Human beta-globin messenger RNA. I. Nucleotide sequences derived from complementary RNA". J. Biol. Chem. 252 (14): 5019 ... 1993). "Normal delta-globin gene sequences in Sardinian nondeletional delta beta-thalassemia". Hemoglobin. 16 (6): 503-9. doi: ... 1994). "Reexamination of the African hominoid trichotomy with additional sequences from the primate beta-globin gene cluster". ...
These studies determined that the LCR was required for normal regulation of beta-globin gene expression. Evidence of the ... The β-globin LCR in mice and humans is found 6-22 kb upstream of the first globin gene (epsilon). It controls the following ... CS1 maint: discouraged parameter (link) Levings PP, Bungert J (March 2002). "The human beta-globin locus control region". ... Although the name implies that the LCR is limited to a single region, this implication only applies to the β-globin LCR (HBB- ...
Voon HP, Vadolas J (Dec 2008). "Controlling alpha-globin: a review of alpha-globin expression and its impact on beta- ... Sharma V, Kumar B, Kumar G, Saxena R (Oct 2009). "Alpha globin gene numbers: an important modifier of HbE/beta thalassemia". ... The human alpha globin gene cluster is located on chromosome 16 and spans about 30 kb, including seven alpha like globin genes ... "alpha-thalassaemia masked by beta gene defects and a new polyadenylation site mutation on the alpha2-globin gene". European ...
"Polymorphism of DNA sequence in the beta-globin gene region. Application to prenatal diagnosis of beta 0 thalassemia in ...
... beta-globins and alpha-globins. Beta-hemoglobin is created from the genetic information on the HBB, or "hemoglobin, beta" gene ... The single nucleotide change in the beta-globin means that even the smallest of exertions on the part of the carrier results in ... The single replacement of the sixth amino acid in the beta-globin, glutamic acid, with valine results in deformed red blood ... The β-globin gene is found on the short arm of chromosome 11. The association of two wild-type α-globin subunits with two ...
Onishi Y, Kiyama R (2003). "Interaction of NF-E2 in the human beta-globin locus control region before chromatin remodeling". J ... Blank V, Kim MJ, Andrews NC (1997). "Human MafG is a functional partner for p45 NF-E2 in activating globin gene expression". ... Strauss EC, Andrews NC, Higgs DR, Orkin SH (1992). "In vivo footprinting of the human alpha-globin locus upstream regulatory ... analysis of its role in globin and GCSl genes regulation". Blood Cells Mol. Dis. 29 (2): 145-58. doi:10.1006/bcmd.2002.0550. ...
"Intervening sequence of DNA identified in the structural portion of a mouse beta-globin gene". Proceedings of the National ... Kinniburgh, Alan; mertz, j; Ross, J. (July 1978). "The precursor of mouse β-globin messenger RNA contains two intervening RNA ...
Tanabe O, Katsuoka F, Campbell AD, Song W, Yamamoto M, Tanimoto K, Engel JD (Jul 2002). "An embryonic/fetal beta-type globin ...
Common examples include the bromodomain, the globin fold and the homeodomain fold. All-β proteins are a class of structural ... Common examples include the SH3 domain, the beta-propeller domain, the immunoglobulin fold and B3 DNA binding domain. α+β ...
Her dissertation was titled The organization of repetitive sequences in two cloned mouse beta-globin clusters. Haigwood ... Haigwood, Nancy Logan (1980). "The organization of repetitive sequences in two cloned mouse beta-globin clusters". The ...
The Beta-Globin Gene Cluster Distribution Revisited-Patterns in Native American Populations. Archived September 10, 2008, at ...
... and beta-globin loci. ACHs are formed through extensive DNA looping to form a "hub" of regulatory elements in order to ... "Looping and interaction between hypersensitive sites in the active beta-globin locus". Molecular Cell. 10 (6): 1453-65. doi: ...
There also have been studies that show changes in the globin genes. There have been noted changes in the beta-globin sequence, ... It manifests itself as a decreased expression of alpha-globin chains, causing an imbalance and excess of beta-globin chains, ... Normally, a person inherits two copies of the gene that produces beta-globin, a protein needed to produce normal hemoglobin ( ... Sickle cell trait describes a condition in which a person has one abnormal allele of the hemoglobin beta gene (is heterozygous ...
Costantini F, Lacy E (November 1981). "Introduction of a rabbit beta-globin gene into the mouse germ line". Nature. 294 (5836 ... "Cloned transgenic cattle produce milk with higher levels of beta-casein and kappa-casein". Nature Biotechnology. 21 (2): 157-62 ...
... and delta-genes influences beta-globin gene expression in man". Nature. 283 (5748): 637-42. Bibcode:1980Natur.283..637V. doi: ... For example, in tissues that express globin genes, the β-globin locus control region forms a loop with these genes. This loop ... "Looping and interaction between hypersensitive sites in the active beta-globin locus". Molecular Cell. 10 (6): 1453-65. doi: ... Beta thalassemia is a certain type of blood disorders caused by a deletion of LCR enhancer element. Holoprosencephaly is ...
... beta-alpha-beta units) Alpha and beta proteins (a+b) [53931] (376): Mainly antiparallel beta sheets (segregated alpha and beta ... For example, the four families in the "globin-like" superfamily of the "globin-like" fold are truncated hemoglobin (lack the ... Mainly parallel beta sheets (beta-alpha-beta units) Fold: Subtilisin-like [52742] 3 layers: a/b/a, parallel beta-sheet of 7 ... For example, the two superfamilies of the "Globin-like" fold are: the Globin superfamily and alpha-helical ferredoxin ...
Differences in the regulated expression of cloned human alpha globin and beta globin genes introduced into MEL cells: the role ... Basis for regulating the expression of human alpha- and beta-globin genes. Discovery of a family of vertebrate genes encoding ... Transcriptional regulation of globin gene expression in the human erythroid cell line K562 », Science, (1983), 220, p. 1281- ... where he studied the molecular basis for the regulation of globin gene expression. In 1984, he joined the European Molecular ...
Farrell CM, West AG, Felsenfeld G (2002). "Conserved CTCF insulator elements flank the mouse and human beta-globin loci". Mol. ... Vostrov AA, Quitschke WW (1998). "The zinc finger protein CTCF binds to the APBbeta domain of the amyloid beta-protein ...
Costantini F, Lacy E (November 1981). "Introduction of a rabbit beta-globin gene into the mouse germ line". Nature. 294 (5836 ... Ye X, Al-Babili S, Klöti A, Zhang J, Lucca P, Beyer P, Potrykus I (January 2000). "Engineering the provitamin A (beta-carotene ... It has been engineered with three genes that biosynthesise beta-carotene, a precursor of vitamin A, in the edible parts of rice ... Jefferson RA, Kavanagh TA, Bevan MW (December 1987). "GUS fusions: beta-glucuronidase as a sensitive and versatile gene fusion ...
Due to the lack of beta-globin, accumulation of alpha-globin subunits and alpha tetramers begin to accumulate leading to damage ... Globin synthesis takes place in the ribosomes which are located within the cytosol. Two globin chains that have heme groups ... Hb S beta thalassemia is the least common and is experienced in patients who have inherited beta thalassemia hemoglobin from ... Fetuses have a non-alpha chain called gamma and after birth it is then called beta. The beta chain will pair with the alpha ...
Molete JM, Petrykowska H, Sigg M, Miller W, Hardison R (Jan 2002). "Functional and binding studies of HS3.2 of the beta-globin ... Martin DI, Tsai SF, Orkin SH (Mar 1989). "Increased gamma-globin expression in a nondeletion HPFH mediated by an erythroid- ... R216W: characterized by a beta thalassemia-type disease, i.e. microcytic anemia, absence of hemoglobin B, and hereditary ... R216Q: familial disease characterized by mild anemia with features of heterozygous rather than homozygous (i.e. overt) beta ...
Beta-thalassemia is a genetic disease mostly caused by beta-globin gene mutations. Clinical diagnosis is based on ... Patients with beta thalassemia major are more affected and are recommended to receive transfusion throughout their lives. ... Therefore, other than diagnosing anemias that require transfusion, diagnosis for the two main causes (beta-thalassemia and ... Transfusion is also one of the treatment strategies for beta-thalassemia patients and patients with myelodysplastic syndrome ( ...
"Cell to cell transfer of the chromatin-packaged human beta-globin gene cluster". Nucleic Acids Research. 38 (5): e33. doi: ...
Banerji J, Rusconi S, Schaffner W (December 1981). "Expression of a beta-globin gene is enhanced by remote SV40 DNA sequences ... 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 ... Evans T, Felsenfeld G, Reitman M (1990). "Control of globin gene transcription". Annual Review of Cell Biology. 6: 95-124. doi: ...
"Insertion of DNA sequences into the human chromosomal beta-globin locus by homologous recombination". Nature. 317 (6034): 230-4 ...
Beta thalassaemia (β-globin). *Hurler syndrome. *Dravet Syndrome. Ataluren (previously PTC124) is a pharmaceutical drug that ...
"The HMG domain protein SSRP1/PREIIBF is involved in activation of the human embryonic beta-like globin gene". Mol. Cell. Biol. ... Transcriptional synergy with NF-IL6 beta (C/EBP delta, CRP3)". J. Immunol. 155 (9): 4330-8. PMID 7594592. Orphanides G, LeRoy G ...
The HBB gene encodes information to make the beta-globin subunit of hemoglobin, which is the protein red blood cells use to ... Sickle cell anemia occurs when the HBB gene mutation causes both beta-globin subunits of hemoglobin to change into hemoglobin S ...
Dopamine beta-hydroxylase participates in the biosynthesis of norepinephrine from dopamine.[97][98] ... "Phylogeny and Evolution of Selected Primates as Determined by Sequences of the ε-Globin Locus and 5′ Flanking Regions". ... Kaufman S (1974). "Dopamine-beta-hydroxylase". Journal of Psychiatric Research. 11: 303-316. doi:10.1016/0022-3956(74)90112-5. ...
methemoglobinemia, beta-globin type. *Mixed Lineage Leukemia. *multiple endocrine neoplasia type 1 ...
The protein is composed of alpha helices and beta sheets that form two domains.[8] The N- and C- terminal sequences are ...
... and beta-globin in mesencephalic dopaminergic neurons and glial cells". Proc. Natl. Acad. Sci. 106 (36): 15454-59. Bibcode: ... differing by only one amino acid in both the alpha and the beta globin protein chains.[24] These differences grow larger ... 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). " ...
Spatial regulation of bold beta-actin translation by Src-dependent phosphorylation of ZBP1 Nature04115. ... "Structural and Functional Analysis of an mRNP Complex That Mediates the High Stability of Human β-Globin mRNA". Mol Cell Biol ...
"Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia". ... anemia is a human genetic disease that results from a single base difference within the coding region for the β-globin section ...
They have a characteristic immunoglobulin fold in which two beta sheets create a "sandwich" shape, held together by ...
1999). "Conservation of sequence and structure flanking the mouse and human beta-globin loci: the beta-globin genes are ... 2001). "Comparative structural and functional analysis of the olfactory receptor genes flanking the human and mouse beta-globin ...
Feingold EA, Penny LA, Nienhuis AW, Forget BG (1999). „An olfactory receptor gene is located in the extended human beta-globin ... 2001). „Comparative structural and functional analysis of the olfactory receptor genes flanking the human and mouse beta-globin ...
Saiki, R.; Scharf, S; Faloona, F; Mullis, K.; Horn, G.; Erlich, H.; Arnheim, N (1985). "Enzymatic amplification of beta-globin ...
Like other serpins, PAI-2 has three beta sheets (A, B, C) and nine alpha helices (hA-hI).[6][7] The structure of PAI-2 mutants ... in which the RCL of one molecule sequentially inserts into the A-beta-sheet of the next molecule. This process occurs ... see also disorders of globin and globulin proteins. Retrieved from "https://en.wikipedia.org/w/index.php?title=Plasminogen_ ...
... moderate reduction of beta globin gene transcriptional activity by a novel mutation of the proximal CACCC promoter element". ...
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 ...
Danckwardt, S.; Neu-Yilik, G; Thermann, R; Frede, U; Hentze, MW; Kulozik, AE (2002). "Abnormally spliced beta -globin mRNAs: A ...
Beta-lactoglobulin *Lactoferrin. *Thyroglobulin. *Alpha-lactalbumin. *11S globulin family (seeds). *7S globulin family (seeds) ...
Saiki, RK; Scharf, S; Faloona, F; Mullis, KB; Horn, GT; Erlich, HA; Arnheim, N (1985). "Enzymatic amplification of beta-globin ... anemia is a human genetic disease that results from a single base difference within the coding region for the β-globin section ...
Saiki, R.; Scharf, S; Faloona, F; Mullis, K.; Horn, G.; Erlich, H.; Arnheim, N (1985). "Enzymatic amplification of beta-globin ... "Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia". ... "Enzymatic Amplification of β-globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia"-the ...
"Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia". ... "Enzymatic Amplification of β-globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia"-the ...
Globin synthesis defect *Alpha-, and beta-thalassemia. *HbE syndrome. *HbC syndrome. *Various other unstable hemoglobin ... Thalassemias, causing deficient globin synthesis[17]. *Congenital dyserythropoietic anemias, causing ineffective erythropoiesis ... Beta thalassemia may also result in transfusion dependence.[60][61] Concerns from repeated blood transfusions include iron ... unimpaired DNA globin synthesis,) which occur, for example, in alcoholism. In addition to the nonspecific symptoms of anemia, ...
Beta-lactoglobulin. References[edit]. 1. Influence Of Dietary Lactalbumin Hydrolysate On The Immune System Of Mice And ... There are alpha and beta lactalbumins; both are contained in milk.. Scientific studies suggest that certain types of ...
Hemoglobin yang terkandung di dalamnya dipecah menjadi zat besi, globin, dan heme. Zat besi dan globin didaur ulang, sedangkan ... "Coffee and type 2 diabetes: from beans to beta-cells". Department of Nutrition, Harvard School of Public Health; van Dam RM. ... "Hypermethylation of growth arrest DNA damage-inducible gene 45 beta promoter in human hepatocellular carcinoma". Department of ... dengan peningkatan laju oksidasi-beta asam lemak, akan terjadi akumulasi elektron pada respiratory chain kompleks I dan III ...
Hemoglobin kang kakandhut ing njeroné dipecah dadi dat wesi, globin, lan heme. Dat wesi lan globin didhaur ulang, éwadéné heme ... "Coffee and type 2 diabetes: from beans to beta-cells". Department of Nutrition, Harvard School of Public Health; van Dam RM. ... "Hypermethylation of growth arrest DNA damage-inducible gene 45 beta promoter in human hepatocellular carcinoma.". Department of ... kanthi paningkatan laju oksidasi-beta asem lemak, bakal dumadi akumulasi èlèktron ing respiratory chain komplèks I lan III kang ...
Second, the breast-milk of some women contains a metabolite of progesterone called 3-alpha-20-beta pregnanediol. This substance ... Globin synthesis defect *sickle cell disease. *Alpha-thalassemia, e.g. HbH disease ... "Prolonged neonatal unconjugated hyperbilirubinemia associated with breast feeding and a steroid, pregnane-3(alpha), 20(beta)- ...
HbA1c is a measure of the beta-N-1-deoxy fructosyl component of hemoglobin.[2] The origin of the naming derives from Hemoglobin ... This reaction produces a Schiff base (R-N=CHR', R = beta chain, CHR'= glucose-derived), which is itself converted to 1- ... Bookchin RM, Gallop PM (1968). "Structure of haemoglobin A1c: nature of the N-terminal beta chain blocking group". Biochem. ... a nonenzymatic condensation reaction occurs between glucose and the N-end of the beta chain. ...
... moderate reduction of beta globin gene transcriptional activity by a novel mutation of the proximal CACCC promoter element". ... Hobbs K, Negri J, Klinnert M, Rosenwasser LJ, Borish L (December 1998). "Interleukin-10 and transforming growth factor-beta ...
Genetic relationship of a Mexican Afromestizo population through the analysis of the 3' haplotype of the beta globin gene in ...
"Enzymatic amplification of beta-globin genomic sequences and restriction site analysis for diagnosis of sickle cell anemia". ...
... 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 ... medlineplus.gov/genetics/condition/methemoglobinemia-beta-globin-type/ Methemoglobinemia, beta-globin type. ...
... of the human beta-globin gene locus consists of four strong hypersensitive sites (HSS) upstream of the epsilon-globin gene. ... The beta-globin dominant control region: hypersensitive site 2.. Philipsen S1, Talbot D, Fraser P, Grosveld F. ... Addition of these sites confers copy number dependent expression on the human beta-globin gene in murine erythroleukaemia cells ... We show that a 225 bp fragment is sufficient to direct high levels of expression of the human beta-globin gene which is copy ...
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. ... provide an overview of the proteins implicated in chromatin looping at the beta-globin locus, and evaluate the relationship ...
... 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. ... This process is also referred to as co-transcriptional cleavage (CoTC). The CoTC process in the human beta-globin gene was ... Page for Beta-globin co-transcriptional cleavage ribozyme at Rfam v t e. ...
Incidence of methemoglobinemia in patients with hematologic malignancy or aplastic anemia who received dapsone prophylaxis through a retrospective chart review encompassing the last 15 ...
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-Globins (beta Globin). Subscribe to New Research on beta-Globins Members of the beta-globin family. In humans, they are ...
When the human beta-globin gene is transfected into Hela cells, no beta-globin RNA is detected unless the gene is linked to a ... Analysis of beta-globin promoter mutants indicates that between 75 and 128 bp of sequence 5 to the mRNA cap site is required ... In contrast, beta-globin transcription in the presence of viral immediate-early gene products requires only 36 bp of 5- ... Transcriptional activation of cloned human beta-globin genes by viral immediate-early gene products.. Green MR, Treisman R, ...
Restriction fragment length polymorphism analysis of the beta-globin cluster of these … ... We have identified 14 Asian patients with homozygous beta zero thalassaemia who had a mild clinical disorder related to an ... beta-globin haplotype (-+-++), in contrast to 1/42 of the thalassaemia major patients. Furthermore, the -+-++ beta haplotype is ... Association of thalassaemia intermedia with a beta-globin gene haplotype Br J Haematol. 1987 Mar;65(3):367-73. doi: 10.1111/j. ...
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 ...
... Takaras Human Beta-globin Control Primer Set contains a set of PCR primers that ... recognizes the human beta-globin gene at chromosome 11. Beta-globin makes up about half of the human hemoglobin tertrameric ... The Human Beta-globin Control Primer Set may be used as a experimental control during protocols such as PCR. Primer Sequences. ... Products , PCR , Pathogen_Detection_and_Screening_Kits , Human_Pathogen_Detection , Human_Beta-globin_Control_Primer_Set. ...
High-resolution X-ray study of deoxy recombinant human hemoglobins synthesized from beta-globins having mutated amino termini. ... HIGH-RESOLUTION X-RAY STUDY OF DEOXY RECOMBINANT HUMAN HEMOGLOBINS SYNTHESIZED FROM BETA-GLOBINS HAVING MUTATED AMINO TERMINI. ... Description: HEMOGLOBIN (DEOXY) (BETA CHAIN) protein , Length: 146 No structure alignment results are available for 1DXV.B, ...
We have examined the effect of one of these sites, HS2, on human beta-globin gene expression in a murine erythroleukemia cell ... A 36-base-pair core sequence of locus control region enhances retrovirally transferred human beta-globin gene expression. J C ... We incorporated a 732- or 412-base-pair (bp) segment of HS2 in the retroviral construct carrying the human beta-globin gene. ... The locus control region of the human beta-globin cluster consists of four major DNase I hypersensitive sites (HS). When linked ...
It resembles a beta-globin gene but it doesnt make any globin. Theres no solid evidence that the pseudgene sequences ... The Human Beta-Globin Pseudogene is Non-Variable and Functional.. Jeffrey P. Tomkins, Institute for Creation research, Dallas, ... Oddly enough, according to the UCSC Genome Browser histogram Larry posted, the whole beta-globin gene cluster locus in Green ... He starts by writing One of the iconic (yet enigmatic) arguments for human-ape common ancestry has been the β-globin ...
... beta-globin locus YAC transgenic lines carrying delta- and beta-globin gene deletions with 5 breakpoints similar to those of ... production of beta-globin locus YAC mice carrying human globin developmental mutants. K R Peterson, Q L Li, C H Clegg, T ... to beta-globin gene switch and continued to express A gamma-globin chains in the adult stage of development as expected for ... production of beta-globin locus YAC mice carrying human globin developmental mutants ...
... 951 1234 DNase hypersensitive site 4 4550 4775 DNase hypersensitive site 3 ... 53540 Left L1 54740 56389 delta-globin gene 54740 54881 Exon 1 55010 55232 Exon 2 56131 56389 Exon 3 62137 63742 beta-globin ... G-gamma-globin gene 34478 34622 Exon 1 34745 34967 Exon 2 35854 36069 Exon 3 37921 38039 Left L1 39414 40985 A-gamma-globin ... 10924 Right Alu 12912 13066 Left L1 14836 15071 Right L1 16918 17218 Left Alu 17940 18231 Right Alu 19486 21080 epsilon-globin ...
Supplementary test information for Beta Globin (HBB) Sequencing and Deletion/Duplication such as test interpretation, ... Variants in the beta (β)-globin gene (HBB) can result in anemia, β thalassemia, or sickling disorders of varying severity. ... Beta Globin (HBB) Sequencing and Deletion/Duplication (Temporary Referral as of 12/07/20) 2010117 ... Normal adults have two functional β-globin genes (HBB) and four functional α-globin genes (two copies each of HBA1 and HBA2) ...
... suitable for scanning the particularly heterogeneous beta globin gene mutations present in the Greek population, and thus ... Therefore, the development of a reliable, cost-effective and rapid scanning method for β globin gene point mutations, easily ... Within this context, β globin gene regions containing mutations frequently identified in the Greek population were divided in ... Beta-thalassaemia is one of the most common autosomal recessive disorders worldwide. The diseases high incidence, which is ...
Short donor site sequences inserted within the intron of beta-globin pre-mRNA serve for splicing in vitro.. A Mayeda, Y Ohshima ... Short donor site sequences inserted within the intron of beta-globin pre-mRNA serve for splicing in vitro. ... We constructed SP6-human beta-globin derivative plasmids that included possible donor site (5 splice site) sequences at a ... Short donor site sequences inserted within the intron of beta-globin pre-mRNA serve for splicing in vitro. ...
Tag Archives: beta-globin Gary Gilbert, Spectrum, and Pseudogenes. By Arthur V. Chadwick, Ph.D. . In October of 1992, Spectrum ...
Gordon, C., & Perkins, A. C. (1999). A transcription factor complex at the beta-globin CCAAT site involving members of the C/ ... Gordon, C & Perkins, AC 1999, A transcription factor complex at the beta-globin CCAAT site involving members of the C/EBP ... T1 - A transcription factor complex at the beta-globin CCAAT site involving members of the C/EBP family of B-zip protein may be ... A transcription factor complex at the beta-globin CCAAT site involving members of the C/EBP family of B-zip protein may be ...
The human b-like globin gene cluster has five active globin genes, encoding the embryonic «-globin, two fetal g-globins, the ... 1), with two embryonic genes, encoding r-globin and «-globin, at the ends of the cluster and two b-globin genes, one expressed ... encoding bA-globin). Given that the avian r-b-«globin gene cluster and the eutherian «-gd-b-globin gene clusters are the only b ... globin and bglobin genes (Fig. 1). This prediction was verified by the discovery of linked «-globin and b-globin genes in two ...
... unusually severe beta thalassemia trait) Evaluation of an abnormal hemoglobin electrophoresis identifying a rare beta globin ... Preconception screening when there is a concern for a beta hemoglobin disorder based on family history ... Identification of a specific beta thalassemia sequence variant (ie, ... Beta Globin. Beta Thalassemia. Beta-thalassemia. Thalassemia: Beta. Hemoglobin Variant: Beta. HBB. Hemoglobin S. Hb S. ...
... end of the A gamma-globin gene. Unusually, this deletion in the beta-globin gene cluster is not associated with increased fetal ... deletions in the beta-globin gene cluster emphasizes the importance of deletion size in altering expression of the fetal globin ... 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. Unusually, this deletion in the beta-globin gene cluster is not associated with increased fetal ...
Decreased β-globin mRNA accumulation can be caused by the presence of a nonsense mutation, independent of its type or location. ... These studies strongly suggest that the presence of a nonsense mutation (but not a missense mutation) in β-globin mRNA ... A number of nonsense and missense mutations of the β globin gene were constructed by oligonucleotide-directed site-specific ... nonsense mutation at the 39th codon of the human β globin gene, the β-39 mutation. Studies of mRNA metabolism in reticulocytes ...
StartFragmentLCR hypersensitive sites mediate the association of the β-globin locus with transcription factories and the ... In the case of each nucleus, the beta-globin locus was probed by DNA FISH (green), and the nucleoplasm was counterstained with ... During red blood cell maturation, the beta-globin locus (green) moves away from the nuclear periphery and becomes associated ... β-globin genes associate with TFs. In contrast to the mild effect that loss of HSs has on the probability of β-globin genes ...
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Browse College of Medicine at Chicago by Subject "beta globin locus". Previous Page Now showing items 1-1 of 1 ...
By quantitative gene expression assay beta globin mRNA was found to be reduced by more than 70% in all heterozygous subjects ... beta globin G-,C, codon 30) is a missense mutation. We could not detect either the mutant peptide or transcript in reticulocyte ... Hemoglobin Monroe (beta globin G-,C, codon 30) is a missense mutation. We could not detect either the mutant peptide or ... Missense mutation of the last nucleotide of exon 1 (G-,C) of beta globin gene not only leads to undetectable mutant peptide and ...
Hemoglobin composition and alpha-globin gene analysis in a family of combined alpha- and beta-thalassemias]. ... Hemoglobin composition and alpha-globin gene analysis in a family of combined alpha- and ...
The beta-globin dominant control region. Greaves DR., Antoniou M., van Assendelft GB., Collis P., Dillon N., Hanscombe O., ... Beta-Coronaviruses use lysosomal organelles for cellular egress * Serology in Children with Multisystem Inflammatory Syndrome ( ... The SARS-CoV-2 spike protein primes inflammasome-mediated interleukin-1- beta secretion in COVID-19 patient-derived macrophages ... SARS-CoV-2 reactive T cells in uninfected individuals are likely expanded by beta-coronaviruses ...
  • 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 locus control region of the human beta-globin cluster consists of four major DNase I hypersensitive sites (HS). (pnas.org)
  • When linked to globin genes, the locus control region confers a high level of erythroid-specific expression of these genes in transgenic mice or transfected erythroid cell lines. (pnas.org)
  • How exactly does the locus control region regulate beta-globin genes? (fredhutch.org)
  • The β-globin locus consists of five genes encoding components of the oxygen transport protein, hemoglobin, plus an upstream locus control region (LCR) that works to drive high-level expression of these genes. (fredhutch.org)
  • The hypersensitive sites of the murine β-globin locus control region act independently to affect nuclear localization and transcriptional elongation. (fredhutch.org)
  • Moving left to right, we have a locus control region (which is essential for the expression of genes within the β globin complex), the ε globin gene, two γ globin genes (G and A), the ψβ1 'pseudogene' (which is preserved in most mammals that have been studied), the δ globin gene, and finally, the β globin gene. (blogspot.com)
  • Which genes are expressed at which time is heavily regulated by the locus control region, which regulates the transcription levels of genes in the β globin gene complex. (blogspot.com)
  • Some studies have indicated that DNAse hypersensitive I sites within the locus control region are what control gene exposure to transcription factories, and/or that the locus control region may form a chromatin loop, actually coming into direct contact with the genes within the β globin complex. (blogspot.com)
  • The β-globin locus spans at least 100 kb on chromosome 11 and consists of a distal enhancer, called the locus control region (LCR), and five functional genes, ε, G γ, A γ, δ, and β, organized in the order of their developmental expression (reviewed in reference 23 ). (asm.org)
  • Erythroid Krüppel-like factor (EKLF) is active in primitive and definitive erythroid cells and is required for the function of 5'HS3 of the beta-globin locus control region. (qxmd.com)
  • By using chromosome conformation capture (3C), we show that the hematopoietic transcription factor GATA-1 and its cofactor FOG-1 are required for the physical interaction between the beta-globin locus control region (LCR) and the beta-major globin promoter. (umassmed.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)
  • 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)
  • in the normal human adult, the hemoglobin tetramer consists of two alpha chains and two beta chains. (clontech.com)
  • 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)
  • It also identifies hyperunstable hemoglobin variants and dominant beta thalassemia sequence variants, as well as other hemoglobin variants that cannot be identified by protein methods. (mayocliniclabs.com)
  • Some hemoglobin disorders will not be detected by beta globin gene sequencing, such as large deletional alterations and crossover events. (mayocliniclabs.com)
  • Hemoglobin composition and alpha-globin gene analysis in a family of combined alpha- and beta-thalassemias]. (bvsalud.org)
  • Sickle Cell Disease (SCD) is a devastating disorder caused by a single base change in the ß-globin gene ( HBB ) that is one component of the adult hemoglobin tetramer (HbA, which contains 2 a-globin and 2 ß-globin proteins). (ehaweb.org)
  • Normal hemoglobin is composed of two α-globin proteins and two β-globin proteins, with each protein being capable of transporting oxygen (which binds to each globin's heme) throughout the body. (blogspot.com)
  • This switch isn't exactly binary as there are cline-like changes that ultimately lead to shifts in the proportion of globins that are present in hemoglobin. (blogspot.com)
  • At that point fetal (γ) globin has reduced in its proportion of total hemoglobin to a level lower than adult hemoglobin, and continues to decrease. (blogspot.com)
  • 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)
  • Zeta-globin is an alpha-like hemoglobin. (antibody-antibodies.com)
  • After reading Dr. Pauling's 1949 paper on the molecular nature of the sickle cell trait, I understood that he was seeing during my talk the very same experiments in my discovery of a mutant human beta-actin that he and Harvey Itano had performed, which led to the prediction of a mutation in the hemoglobin protein that caused sickle cell anemia. (wordpress.com)
  • Previous analysis of the hemoglobin phenotype of the K562 human erythroleukemia cell line showed regulated expression of the epsilon-, zeta-, gamma-, alpha-, and delta-globin genes. (ashpublications.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)
  • 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)
  • In the non-pathological condition known as hereditary persistence of fetal hemoglobin (HPFH), gamma globin expression is continued into adulthood. (wikipedia.org)
  • Human beta-globin expression was monitored in transplanted animals by using a monoclonal antibody specific for human beta-globin polypeptide, and hematopoietic reconstitution was monitored by using donor and recipient mice which differed in hemoglobin type. (fredhutch.org)
  • A non-deletion hereditary persistence of fetal hemoglobin (HPFH) determinant not linked to the beta-globin gene complex. (ox.ac.uk)
  • We describe an Asian Indian family with a non-deletion form of hereditary persistence of fetal hemoglobin (HPFH) and beta zero thalassemia. (ox.ac.uk)
  • Hemoglobin is made up of heme and globin. (encyclopedia.com)
  • The type of hemoglobin found in healthy adults contains two alpha chains and two beta chains. (encyclopedia.com)
  • This form of hemoglobin is called HbA (hemoglobin A). As discussed below, sickle cell disease is due to mutations in the beta chains in HbA. (encyclopedia.com)
  • The beta globin allele that leads to sickle cell disease is called the hemoglobin S (HbS) allele. (encyclopedia.com)
  • 1 The research is related to the beta-globin pseudogene and shows it to be functional and important to hemoglobin gene regulation. (icr.org)
  • All hemoglobin consists of two parts: heme and globin). (medicinenet.com)
  • The second set is called the 'beta-hemoglobin' chain which specifically changes at the embryo-to-fetal transition and again at the fetal-to-adult transition. (icr.org)
  • Hemoglobin SB+ (beta) thalassemia affects beta globin gene production. (healthline.com)
  • If inherited with the Hb S gene, you will have hemoglobin S beta thalassemia. (healthline.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)
  • This is a second-tier evaluation of beta thalassemia minor, intermedia, and major, as well as beta globin variant identification. (mayocliniclabs.com)
  • A common mutation causing thalassemia in Mediterranean populations is an amber (UAG) nonsense mutation at the 39th codon of the human β globin gene, the β-39 mutation. (yale.edu)
  • Insulin resistance is a common problem in patients with different types of hemoglobinopathies including beta thalassemia major. (biomedcentral.com)
  • Considering high number of complications associated with insulin resistance and impaired glucose metabolism, the present study was designed to evaluate the prevalence of these metabolic disorders in patients with beta thalassemia minor. (biomedcentral.com)
  • After being approved by the Ethical Board of Mazandaran University of Medical Sciences, Sari, Iran this study was conducted on 82 individuals with beta thalassemia minor and 82 healthy subjects as control group[according to P1=6% (prevalence of IGT in normal population), P2=14% (prevalence of IGT in beta thalassemia minor), d 2 =10% , Z 1 -β ,Z 1 - α/ 2 =1.96]. (biomedcentral.com)
  • To determine the composition and distribution of beta-thalassemia-associated genotypes in Liuzhou area of Guangxi, China. (cdc.gov)
  • The subjects were analyzed by reverse dot blotting (RDB) for 17 common beta-thalassemia-associated variants among the Chinese population. (cdc.gov)
  • Liuzhou area has a high incidence of beta-thalassemia, but with a complex variant spectrum and clinical phenotypes different from other regions. (cdc.gov)
  • Our result may provide valuable information for the prevention and control of beta-thalassemia in this area. (cdc.gov)
  • Genotype of thalassemia genes and the polymorphism of β- globin gene in Cantonese]. (cdc.gov)
  • Prevalence survey and molecular characterization of alpha and beta thalassemia in Liuzhou city of Guangxi]. (cdc.gov)
  • Beta thalassemia is one of the most prevalent forms of heritable blood disorders in the world. (grantome.com)
  • Patients afflicted with the most severe forms of beta thalassemia require lifelong blood transfusions and iron chelation treatment. (grantome.com)
  • Our preliminary data on efficient ex-vivo editing of 3 selected genomic loci in normal and 1 in beta thalassemic MPB hCD34+ cells, robust gamma globin reactivation, and durable editing and gamma reactivation in exogeneic recipients are compelling and suggest that this novel approach has the potential to be developed into curative therapies for beta thalassemia. (grantome.com)
  • Our proposal will edit the genome of patient's own stem cells to safely and efficiently correct the beta thalassemia phenotype, as a strategy for future thalassemia treatment. (grantome.com)
  • Also, in cases of beta-thalassemia and related conditions, gamma chain production may be maintained, possibly as a mechanism to compensate for the mutated beta-globin. (wikipedia.org)
  • Among 17 individuals with beta +- and beta 0-thalassemia, we observed three patients of Indian origin with beta 0-thalassemia whose DNA revealed a consistent mapping abnormality. (ox.ac.uk)
  • Partial beta-globin gene deletion appears, therefore, to be a primary molecular defect seen in certain patients with beta 0-thalassemia. (ox.ac.uk)
  • 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)
  • A new beta-thalassemia mutation produced by a single nucleotide substitution in the conserved dinucleotide sequence of the IVS-I consensus acceptor site (AG----AA). (biomedsearch.com)
  • An Egyptian child with thalassemia major was found to carry two different haplotypes (I and VI) associated with two beta-thalassemic chromosomes. (biomedsearch.com)
  • A G----A substitution was found at position 130 of the IVS-I which alters the conserved dinucleotide AG present in the consensus acceptor sequence, thus producing a beta (0)-thalassemia. (biomedsearch.com)
  • This situation may interfere with correct diagnosis and genetic counseling of alpha- and beta-thalassemia in screening programs. (bvsalud.org)
  • A new beta-globin mutation responsible of a beta-thalassemia (HbVar database ID 2928) was observed in 8 unrelated French families. (ega-archive.org)
  • Beta-thalassemia is prevalent in Sri Lanka and imposes a heavy economic and social burden in the country due to the patients' life-long need for regular blood transfusion and treatment with iron chelation therapy. (ac.lk)
  • Thus, there is a need to develop a rapid, reliable and effective population-based presymptomatic and prenatal screening method for beta-thalassemia. (ac.lk)
  • A hotspot region of beta-globin gene containing 98% of known beta-thalassemia mutations was amplified from 24 clinically diagnosed beta-thalassemia patients and two normal individuals. (ac.lk)
  • The SSCP banding patterns of these two fragments from beta-thalassemia patients were different from the corresponding regions of normal individuals. (ac.lk)
  • Therefore, the SSCP protocol developed in this study together with ASP should provide an appropriate screening approach for presymptomatic and parental diagnosis of beta-thalassemia in the Sri Lankan population. (ac.lk)
  • The propositus who has homozygous beta zero thalassemia has an unusually mild form of the disease which is ascribed to the co-inheritance of HPFH. (ox.ac.uk)
  • The interaction of HPFH and beta thalassemia was studied in five generations of this family. (ox.ac.uk)
  • Molecular analysis of gamma-globin promoters, HS-111 and 3HS1, in beta-thalassemia intermedia patients associated with high levels of Hb F. (duhnnae.com)
  • Abstract : The nucleotide nt variations in the promoter region of the gamma-globin genes, HS-111 and 3-HS1 regions, were studied in Iranian patients with beta-thalassemia intermedia beta-TI, beta-thalassemia major beta-TM and healthy individuals. (duhnnae.com)
  • thalassemia with a C.RAR.T Substitution at Position 654 of the Second Intervening Sequence of the .BETA. (nii.ac.jp)
  • 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)
  • Alpha thalassemia occurs when a gene or genes related to the alpha globin protein are missing or changed (mutated). (pennmedicine.org)
  • Beta thalassemia occurs when similar gene defects affect production of the beta globin protein. (pennmedicine.org)
  • Beta thalassemia major is also called Cooley anemia. (pennmedicine.org)
  • Children born with beta thalassemia major (Cooley anemia) are normal at birth, but develop severe anemia during the first year of life. (pennmedicine.org)
  • People with the minor form of alpha and beta thalassemia have small red blood cells but no symptoms. (pennmedicine.org)
  • Alpha thalassemia happens when one or more of the genes that control the making of alpha globins is absent or defective. (kidshealth.org)
  • What is beta thalassemia? (medicinenet.com)
  • There are two forms of beta thalassemia: thalassemia minor and thalassemia major (also called Cooley's anemia ). (medicinenet.com)
  • Beta thalassemia is classically described in people of Italian and Greek origin. (medicinenet.com)
  • The most familiar type of thalassemia is beta thalassemia. (medicinenet.com)
  • In persons with beta thalassemia, there is reduced or absent production of beta globin chains. (medicinenet.com)
  • There are two forms of beta thalassemia. (medicinenet.com)
  • Thalassemia minor: The individual with thalassemia minor has only one copy of the beta thalassemia gene (together with one perfectly normal beta-chain gene). (medicinenet.com)
  • The person is said to be heterozygous for beta thalassemia. (medicinenet.com)
  • Thalassemia major (Cooley's anemia): The child born with thalassemia major has two genes for beta thalassemia and no normal beta-chain gene. (medicinenet.com)
  • The child is homozygous for beta thalassemia. (medicinenet.com)
  • This causes a striking deficiency in beta chain production and in the production of Hb A. Thalassemia major is a significant illness. (medicinenet.com)
  • HbF has two alpha chains (like Hb A) and two gamma chains (unlike Hb A). It has no beta chains so the baby is protected at birth from the effects of thalassemia major. (medicinenet.com)
  • The gene for beta thalassemia is not evenly distributed among peoples. (medicinenet.com)
  • The reason that the gene for beta thalassemia is relatively common, for example, among people of Italian and Greek origin is that parts of Italy and Greece were once full of malaria . (medicinenet.com)
  • What is the genetic pattern of inheritance of beta thalassemia? (medicinenet.com)
  • The pattern of genetic transmission of beta thalassemia (and sickle cell disease ) was deciphered by James V. Neel when he was at the University of Rochester (and later at the University of Michigan). (medicinenet.com)
  • Dr. Neel recognized that the parents of children with thalassemia major had thalassemia minor with one beta thalassemia gene. (medicinenet.com)
  • 2012. A Single Nucleotide Polymorphism in the HBBP1 Gene in the Human β-Globin Locus is Associated with a Mild β-Thalassemia Disease Phenotype. (icr.org)
  • Sickle beta-zero thalassemia is the fourth type of sickle cell disease. (healthline.com)
  • However, sometimes the symptoms of beta zero thalassemia are more severe. (healthline.com)
  • 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)
  • Here's a diagram showing the pseudogene in the β-globin gene cluster in humans and chimps. (blogspot.com)
  • It is thought that, over evolutionary time, gene duplications, changes in regulatory regions, and splitting of the genes onto different chromosomes allowed for developmental and stage specific expression of the globin genes we now see in humans. (blogspot.com)
  • If you look at contemporary humans," Hardison added, "we have several alpha-globin genes and several beta-globin genes. (psu.edu)
  • 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)
  • The ability to consistently transfer an active beta-globin gene into mouse hematopoietic cells improves the feasibility of using these techniques for somatic cell gene therapy in humans. (fredhutch.org)
  • 1 Researchers compared the beta-globin gene clusters in many different individuals in both humans and chimpanzees. (icr.org)
  • Analysis of beta-globin promoter mutants indicates that between 75 and 128 bp of sequence 5' to the mRNA cap site is required for enhancer-dependent transcription in Hela cells. (nih.gov)
  • 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)
  • Consistent with this, both histone H3 and H4 acetylation at the γ-globin promoter were increased, while histone H4R3 and H3K9 methylation were decreased, in WDR5 knockdown cells compared to controls. (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)
  • H3K4me3 induced at the γ-globin promoter by WDR5 may result in the recruitment of the ING2-associated HDAC1 component and consequent silencing of γ-globin gene expression. (haematologica.org)
  • To investigate the control of the γ-globin gene during development, we produced transgenic mice in which sequences of the β-gene promoter were replaced by equivalent sequences of the γ-gene promoter in the context of a human β-globin locus yeast artificial chromosome (βYAC) and analyzed the effects on globin gene expression during development. (asm.org)
  • Measurements of the expression of the γ promoter/β-globin gene as well as the wild γ genes showed that gene competition is also involved in the control of γ-gene expression in the fetal stage of development. (asm.org)
  • Analysis of this unique K562 variant shows that a construct containing a beta-globin promoter is quite active upon transient transfection into these cells. (ashpublications.org)
  • None of the K562 transformants with beta-globin promoter constructs shows transcription initiation from the normal cap site (+1). (elsevier.com)
  • In the case of the BH 2 transfectants, the alternative explanation is possibly more likely, i.e. the +200 transcript might originate from a cryptic promoter in the H 2 K gene, rather than a spliced in transcript from an upstream promoter, because this RNA is expressed in all cases at similar levels.In either case, the normal beta-globin promoter is completely silent. (elsevier.com)
  • We cannot conclude whether the inactivity of the promoter is caused by the presence of a trans acting suppressor factor or the absence of a trans acting factor that is required to activate the beta-globin promoter. (elsevier.com)
  • On this basis, it was prematurely concluded that at least part of the sequences responsiblefor the absence of normal beta-globin cap mRNA are located between -77 and +28 of the beta-globin promoter. (elsevier.com)
  • The deletion to -77 of the beta-globin promoter renders it almost completely inactive in beta-globin expressing MEL cells (Antoniou and deBoer, unpublished) and therefore no conclusions can be drawn from the absence of detectable expression of such a promoter. (elsevier.com)
  • However, we do know that the -208 deletion of the beta-globin gene is still active in MEL cells and that sequences upstream from -400 in the beta-globin promoter have no effect on the expression of a -400 gamma-globln promoter in K562 cells (Antoniou and deBoer, unpublished). (elsevier.com)
  • Transcription factors KLF1 and KLF2 positively regulate embryonic and fetal beta-globin genes through direct promoter binding. (qxmd.com)
  • To determine the frequency of Gc- globin promoter 158 [C>T] XmnI polymorphism [XmnI polymorphism] in patients with homozygous or compound heterozygous beta thalassaemia. (bvsalud.org)
  • GATA-1 occupies the beta-major globin promoter normally in fetal liver erythroblasts from mice lacking the LCR, suggesting that GATA-1 binding to the promoter and LCR are independent events that occur prior to loop formation. (umassmed.edu)
  • 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)
  • The α globin gene complex is located on chromosome 16 while the β globin gene complex is located on chromosome 11, meaning that globin production is nicely synchronized with coordination from two very different genomic locations. (blogspot.com)
  • For now, I will only focus on the β globin gene complex, which is sandwiched in between some olfactory receptor genes on the short arm of chromosome 11. (blogspot.com)
  • Location of the two adult α-globin paralogs, HBA-T1 and HBA-T2, on chromosome 11 (top). (genetics.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 alpha-globin genes are on chromosome 16, and the beta-globin genes are on chromosome 11. (psu.edu)
  • 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)
  • The mutation carriers originated from Nord-Pas-de-Calais, a Northern French region where the chief town is Lille.5 unrelated mutation carriers were genotyped for a set of 12 microsatellites from chromosome 11, around the beta-globin gene. (ega-archive.org)
  • 5 unrelated mutation carriers were genotyped for a set of 12 microsatellites from chromosome 11, around the beta-globin gene. (ega-archive.org)
  • The human beta-globin proteins are encoded by five genes inside a cluster of six genes on chromosome 11. (icr.org)
  • The human beta-globin proteins are encoded in a cluster of six genes that extends over 80,000 bases on chromosome 11. (icr.org)
  • 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)
  • The relationship between classical betas haplotypes and long-range haplotype similarity may have both anthropological and clinical implications, but to date has not been explored. (ox.ac.uk)
  • Here we evaluate the haplotype similarity of classical betas haplotypes over 400 kb in population samples from Jamaica, The Gambia, and among the Yoruba of Nigeria (Hapmap YRI). (ox.ac.uk)
  • Among the Yoruba, Benin haplotypes were highly conserved, with very strong linkage disequilibrium (LD) extending a megabase across the betas mutation. (ox.ac.uk)
  • CONCLUSION: Two different classical betas haplotypes, sampled from different populations, exhibit comparable and extensive long-range haplotype similarity and strong LD. (ox.ac.uk)
  • Although the multi-centric geographic distribution of betas haplotypes indicates strong subdivision among early Holocene sub-Saharan populations, we find no evidence that selective pressures imposed by falciparum malaria varied in intensity or timing between these subpopulations. (ox.ac.uk)
  • The mtDNA ancestry markers and BetaA-globin haplotypes were analyzed by PCR/RFLP. (krisp.org.za)
  • Beta-globin Gene Haplotypes Among Cameroonians and Review of the Global Distribution: Is There a Case for a Single Sickle Mutation Origin in Africa? (cdc.gov)
  • They include epsilon-globin, gamma-globin, delta-globin and beta-globin. (curehunter.com)
  • In this report, we describe the isolation of a variant of the K562 cell line that actively expresses beta-globin messenger RNA (mRNA) and polypeptide and shows greatly reduced expression of the delta-globin genes. (ashpublications.org)
  • co- inheritance of beta- and delta-globin mutations in Iran is not uncommon. (bvsalud.org)
  • Both human genetic disease studies and deletion studies in mice have shown this region to be imperative for β globin gene expression, however the exact mechanism through which it promotes expression isn't fully known. (blogspot.com)
  • In September 2010, the company BlueBird Bio announced that it had cured a patient with the hemoglobinopathy, beta-thalessemia, by correcting the genetic defect in beta-globin that this patient inherited from his parents. (wordpress.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)
  • Linkage analysis showed that the genetic determinant for the HPFH segregates independently from the gamma delta beta globin gene complex. (ox.ac.uk)
  • Analysis of HPFH linkage to a panel of genetic markers in such a large family offers the possibility of defining a transacting locus (or loci) involved in the expression of the gamma globin gene. (ox.ac.uk)
  • Therefore, the A allele of -588, + allele of XmnI and HS-111 -21 A variation are useful genetic markers to differentiate between beta-TM and beta-TI patients. (duhnnae.com)
  • Shortly following this, another research paper was published indicating the HBBP1 gene exhibited the more genetic regulatory connections in the various regions of the globin-gene cluster than the other beta-globin genes. (icr.org)
  • While five out of the six genes in the beta-globin cluster produce proteins, one of the genes called HBBP1 does not because of several stop sequences in its code previously postulated to be mutations. (icr.org)
  • Out of the six genes in the beta-globin cluster, the HBD gene and its companion (the next gene in the cluster), the HBBP1 pseudogene, are highly non-variable compared to the other beta-globin genes. (icr.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)
  • Here, we examined the mechanism for DNA looping at the beta-globin locus. (umassmed.edu)
  • 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)
  • We have examined the effect of one of these sites, HS2, on human beta-globin gene expression in a murine erythroleukemia cell line (MEL) after retrovirus-mediated gene transfer. (pnas.org)
  • These developmental changes in human globin gene activity are recapitulated in transgenic mice carrying human β-locus yeast artificial chromosome (βYAC) constructs, except for the fact that in this murine model the human γ-globin genes display both embryonic and fetal expression ( 12 , 18 , 20 , 24 ). (asm.org)
  • KLF2 is essential for primitive erythropoiesis and regulates the human and murine embryonic beta-like globin genes in vivo. (qxmd.com)
  • Subcellular transport of EKLF and switch-on of murine adult beta maj globin gene transcription. (qxmd.com)
  • 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)
  • Murine bone marrow was infected with a high-titer retrovirus vector containing the human beta-globin and neomycin phosphotransferase genes. (fredhutch.org)
  • In this paper we show that trans-acting adenovirus and herpesvirus (pseudorabies) transcriptional regulatory proteins can circumvent this enhancer requirement for detectable beta-globin transcription in transient expression assays. (nih.gov)
  • 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)
  • 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)
  • 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)
  • 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)
  • A mutation displayed a delayed gamma- to beta-globin gene switch and continued to express A gamma-globin chains in the adult stage of development as expected for carriers of Greek HPFH, indicating that the YAC/transgenic mouse system allows the analysis of the developmental role of cis-acting motifs. (pnas.org)
  • Without beta globin chains to pair with, excess alpha globin chains are susceptible to oxidation to hemichromes, precipitate and damage red blood cell precursors as well as mature red blood cells, leading to ineffective erythropoiesis and profound anemia. (grantome.com)
  • Globin, which holds the heme and influences how easily it stores and releases oxygen, is a protein consisting of two pairs of polypeptide chains. (encyclopedia.com)
  • Globin can contain several different types of polypeptide chains, termed alpha, beta, and gamma. (encyclopedia.com)
  • But in place of the beta chains, it contains a pair of gamma chains. (encyclopedia.com)
  • One of these chains is called the alpha-globin and remains similar in composition during human development. (icr.org)
  • 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 part of Hb A has 4 protein sections called polypeptide chains. (medicinenet.com)
  • The other two chains are also identical to one another but differ from the alpha chains and are termed the beta chains. (medicinenet.com)
  • One of these chains is called the 'alpha-globin' which remains the same from embryo development to adulthood. (icr.org)
  • It normally has two alpha chains and two beta chains. (healthline.com)
  • This gene provides instructions for making a protein called beta-globin. (medlineplus.gov)
  • How the alpha and beta globin genes achieve this balanced protein production is not known. (hstalks.com)
  • 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)
  • 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)
  • This gene encodes a protein that is involved in globin gene expression in erythrocytes. (antibody-antibodies.com)
  • 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)
  • 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)
  • We mapped the topography of a terminal stage-specific chromatin-condensing protein, MENT, across the active chicken beta-globin domain. (edu.kz)
  • Kinetic studies reveal that GATA-1-induced loop formation correlates with the onset of beta-globin transcription and occurs independently of new protein synthesis. (umassmed.edu)
  • The size of the red blood cell is reduced because less beta protein is made. (healthline.com)
  • Short donor site sequences inserted within the intron of beta-globin pre-mRNA serve for splicing in vitro. (asm.org)
  • We constructed SP6-human beta-globin derivative plasmids that included possible donor site (5' splice site) sequences at a specified position within the first intron. (asm.org)
  • The active donor site sequences included a 9-nucleotide consensus sequence, 14- or 16-nucleotide sequences at the human beta-globin first or second donor, and those at simian virus 40 large T antigen or small t antigen donor. (asm.org)
  • 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)
  • Early transgenic studies have shown that a DNA fragment containing the entire γ-globin gene, but no sequences of the LCR, expresses the γ gene only in the embryonic erythroid cells ( 2 , 13 ). (asm.org)
  • Second, if AS globin species do exist they could in turn form double-stranded RNA species which might induce post-transcriptional gene silencing, a phenomenon somehow provoked in eukaryotic cells by AS RNA sequences. (biomedcentral.com)
  • 13. Immunogenic Complex according to claim 11, whereby the regulatory sequences comprise the rabbit β-globin gene transcription terminator sequence. (freepatentsonline.com)
  • Multiple sequences regulate human beta-globin gene expression in transgenic mice. (elsevier.com)
  • Fingerprint Dive into the research topics of 'Multiple sequences regulate human beta-globin gene expression in transgenic mice. (elsevier.com)
  • This deletion involved 3' beta-globin gene sequences and eliminated the EcoRI site normally present at codons 121/122, but it did not extend to the BamHI site at codons 98--100 on the 5' side of the 0.90-kilobase intervening sequence normally present in beta-globin genes. (ox.ac.uk)
  • Comparison of flanking sequences revealed that all jawed vertebrate α-globin clusters are flanked by MPG - C16orf35 and LUC7L , whereas all bird and mammal β-globin clusters are embedded in olfactory genes. (beds.ac.uk)
  • RecBC, sbcB independent, (AT)n-mediated deletion of sequences flanking a Xenopus laevis beta globin gene on propagation in E. coli. (ox.ac.uk)
  • Plasmids containing sequences 3' of the adult beta 1 globin gene of Xenopus laevis are unstable on propagation in a range of E. coli host strains. (ox.ac.uk)
  • The zeta-globin polypeptide is synthesized in the yolk sac of the early embryo, while alpha-globin is produced throughout fetal and adult like. (antibody-antibodies.com)
  • These papers focused on mouse β-globin in particular, but they also proposed AS to the mRNAs for serum amyloid A, insulin receptor, eukaryotic transcription factor eIF-4D, vasoactive intestinal polypeptide and syndecan. (biomedcentral.com)
  • In some experiments all transplanted mice expressed the human beta-globin polypeptide for over 4 months, and up to 50% of peripheral erythrocytes contained detectable levels of polypeptide. (fredhutch.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)
  • This locus contains not only the beta globin gene but also delta, gamma-A, gamma-G, and epsilon globin. (wikipedia.org)
  • We incorporated a 732- or 412-base-pair (bp) segment of HS2 in the retroviral construct carrying the human beta-globin gene. (pnas.org)
  • 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)
  • 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)
  • Chromatin remodelling and the interaction between enhancers and promoters in the beta-globin locus. (semanticscholar.org)
  • 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)
  • 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)
  • 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)
  • 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)
  • When the human beta-globin gene is transfected into Hela cells, no beta-globin RNA is detected unless the gene is linked to a viral transcription enhancer. (nih.gov)
  • In contrast, beta-globin transcription in the presence of viral immediate-early gene products requires only 36 bp of 5'-flanking sequence, which includes the TATA box. (nih.gov)
  • Thus both cis and trans-acting viral factors activate beta-globin gene transcription in transient expression experiments, but the mechanisms by which they act appear to be fundamentally different. (nih.gov)
  • The beta globin locus has long served as a major paradigm for studies of eukaryotic gene regulation and transcription. (hstalks.com)
  • During red blood cell maturation, the beta-globin locus (green) moves away from the nuclear periphery and becomes associated with a focus of serine-5 phosphorylated RNA polymerase II, designated a transcription factory. (fredhutch.org)
  • Right: immunostaining of phospho-Poll II (red) defines numerous transcription factories, one of which is associated with the beta-globin locus. (fredhutch.org)
  • The LCR was clearly necessary for efficient relocalization of the β-globin locus, its association with TFs, and high-levels of transcription, thus raising a new question about this process. (fredhutch.org)
  • To address this, and to investigate the intricacies of how the LCR regulates gene expression, Dr. Bender (affiliate member in the Clinical Research Division), Dr. Groudine and co-authors recently compared differentiation-dependent β-globin gene transcription, nuclear positioning of the β-globin locus and its association with TFs among a series of mice with targeted HS deletions. (fredhutch.org)
  • How then does the control of β-globin gene transcription arise? (fredhutch.org)
  • In contrast to the mild effect that loss of HSs has on the probability of β-globin genes being actively transcribed, the authors found that HSs have a strong effect on the amount of β-globin RNA generated during each burst of transcription. (fredhutch.org)
  • 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)
  • 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)
  • GENTAUR antibody-antibodies.com The Marketplace for Antibodies : Cross-Sectional Study for the Detection of Mutations in the Beta-Globin Gene Among Patients with Hemoglobinopathies in the Bengali Population. (antibody-antibodies.com)
  • Cross-Sectional Study for the Detection of Mutations in the Beta-Globin Gene Among Patients with Hemoglobinopathies in the Bengali Population. (antibody-antibodies.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)
  • Our observations also suggest that cis-acting loci, which may influence outcomes in sickle cell disease, could lie considerable distances away from beta-globin. (ox.ac.uk)
  • In sickle cell disease, there is a change in only one nucleotide in the sequence that codes for the beta chain: A thymine is substituted for an adenine. (encyclopedia.com)
  • 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)
  • A Single Nucleotide Polymorphism in MGEA5 Encoding O-G1cNAc-selective N-Acetyl-Beta-D Glucosaminidase Is Associated With Type 2 Diabetes in Mexican Americans", Diabetes, 54:1214-1221, 2005. (freepatentsonline.com)
  • Response to hydroxyurea therapy in homozygous or compound heterozygous beta thalassaemia [BT] has been reported as more favourable in the presence of XmnI polymorphism. (bvsalud.org)
  • Single strand conformational polymorphism (SSCP) technique was developed as an adjunct for the previously developed allele-specific PCR (ASP) technique to screen the presence of mutationsin beta-globin gene. (ac.lk)
  • However, the A allele of the -588 variation and + allele of the XmnI polymorphism were more frequent in beta-TI patients, especially those who had the IVS-II-1G>A-IVS-II-1G>A genotype. (duhnnae.com)
  • These studies strongly suggest that the presence of a nonsense mutation (but not a missense mutation) in β-globin mRNA decreases the accumulation of its mRNA. (yale.edu)
  • Decreased β-globin mRNA accumulation can be caused by the presence of a nonsense mutation, independent of its type or location. (yale.edu)
  • BACKGROUND: The sickle (betas) mutation in the beta-globin gene (HBB) occurs on five "classical" betas haplotype backgrounds in ethnic groups of African ancestry. (ox.ac.uk)
  • Beta-thalessemia like sickle cell anemia is caused by an inherited mutation in the beta-globin gene, just a different mutation. (wordpress.com)
  • Analysis with several oligonucleotides and restriction enzymes, which identify the mutations most common in the Mediterranean area, allowed the identification of only one mutation, namely T----C at position 6 of the first intervening sequence (IVS-I). In order to characterize the other mutation the beta gene was amplified with polymerase chain reaction and sequenced. (biomedsearch.com)
  • This new functional data meshes well with another recent study showing that a single base mutation in the HBBP1 pseudogene is associated with a blood disease called beta-thalasemia. (icr.org)
  • We show that a 225 bp fragment is sufficient to direct high levels of expression of the human beta-globin gene which is copy number dependent and integration site independent. (nih.gov)
  • The significance of these results for the regulation of globin gene expression is discussed. (nih.gov)
  • 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)
  • β-globin gene regulation during red blood cell maturation has become a powerful model for inquiry into how dynamic nuclear organization contributes generally to the control of gene expression during development. (fredhutch.org)
  • demonstrated that red blood cell maturation was accompanied by movement of the β-globin locus away from the nuclear periphery, and that this correlated with increased β-globin gene expression. (fredhutch.org)
  • What, exactly, was it about the LCR that regulates β-globin position and expression? (fredhutch.org)
  • C) of beta globin gene not only leads to undetectable mutant peptide and transcript but also interferes with the expression of wild allele. (semanticscholar.org)
  • NFE2L1 activates erythroid-specific, globin gene expression. (antibody-antibodies.com)
  • The efficiency of editing and general effects on globin expression, erythropoiesis, and other potential side-effects will first be evaluated using normal MPB hCD34+ cells. (grantome.com)
  • The effects of WDR5 knockdown on γ-globin gene expression were determined. (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)
  • The ε-globin gene is the first gene expressed during ontogeny, and its expression is restricted to the blood islands of the yolk sac. (asm.org)
  • Around birth, β- and δ-globin gene activity dramatically increases and the γ-globin gene expression progressively declines to about 0.5% of the total globin expression. (asm.org)
  • Expression of the beta- globin genes has not been previously detected in this cell line. (ashpublications.org)
  • Other globin genes of this variant are appropriately regulated and show increased expression after hemin induction. (ashpublications.org)
  • Previous studies by Volloch and coworkers have reported that during the expression of high levels of β-globin mRNA in the spleen of anemic mice, they could also detect small but significant levels of an antisense (AS) globin RNA species, which they postulated might have somehow arisen by RNA-directed RNA synthesis. (biomedcentral.com)
  • We would therefore suggest that differences between the gamma and beta-globin genes within -208 (certainly within -400) are at least partly responsible for the lack of expression of the beta-globin gene in K562 cells. (elsevier.com)
  • Erythroid Krüppel-like factor (EKLF or KLF1) regulates adult beta-globin gene expression and is necessary for normal definitive erythropoiesis. (qxmd.com)
  • The data indicate that EKLF and KLF2 have redundant functions in embryonic beta-like globin gene expression, primitive erythropoiesis, and endothelial development. (qxmd.com)
  • 315 million years ago), then duplicated and diverged to form orthologous clusters of β-globin genes with different expression profiles in different lineages. (beds.ac.uk)
  • Induction of alpha- and beta-globin mRNA expression at the pituitary by neonatal exposure to estrogen was demonstrated as dose-dependent and it was persistently detected up to puberty. (ku.dk)
  • A majority of mice show long-term expression of a human beta-globin gene after retrovirus transfer into hematopoietic stem cells. (fredhutch.org)
  • Multiple RNA transcript variants are produced by this gene that are thought to be involved with the regulation of beta-globin gene expression. (icr.org)
  • 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)
  • 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)
  • 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)
  • To learn whether any portion of such variation in F cell production is regulated by loci genetically separable from the beta- globin gene cluster, percentages of F reticulocytes were compared in 59 sib pairs composed solely of SS members, including 40 pairs from Jamaica and 19 from the United States. (ashpublications.org)
  • Still unanswered is (1) whether or not these genes are actually linked to beta S, (2) why F reticulocyte levels in Americans tend to be lower than in Jamaicans, and (3) whether or not differences in F cell production among SS patients are regulated by several major loci or by only one. (ashpublications.org)
  • Here we report a survey of nucleotide variation in the adult globin genes of house mice from South America. (genetics.org)
  • 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)
  • In the case of beta-genes, the number of transfectants is very low and although initiation at +40 is not excluded, these transcripts probably originate from the upstream vector or K562 integration site and are spliced onto position +40, as previously described for the rabbit beta-globin gene. (elsevier.com)
  • The CoTC core is highly conserved in the 3' UTR of other primate beta-globin genes. (wikipedia.org)
  • The most promising approaches based on the evaluation of normal hCD34+ cells will be applied to beta thalassemic hCD34+ cells where the improvement in erythroid parameters both in vitro, and in vivo, will be examined. (grantome.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)
  • 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)
  • 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)
  • 2013. Evolutionary constraints in the β-globin cluster: The signature of purifying selection at the δ-globin (HBD) locus and its role in developmental gene regulation. (icr.org)
  • Furthermore, the -+-++ beta haplotype is also associated with amelioration of disease severity in beta thalassaemia in an Italian population. (nih.gov)
  • This beta haplotype is linked to a DNA sequence variation 5' (at position -158) to the G gamma globin gene which can be detected by the presence (+) of an Xmn I restriction enzyme site. (nih.gov)
  • Strong selection in favour of the betas allele - a consequence of protection from severe malarial infection afforded by heterozygotes - has been associated with a high degree of extended haplotype similarity. (ox.ac.uk)
  • RESULTS: The most common betas sub-haplotype among Jamaicans and the Yoruba was the Benin haplotype, while in The Gambia the Senegal haplotype was observed most commonly. (ox.ac.uk)
  • As regards the ethnicity of HTLV-infected women, the haplotype characterization of Beta-globin gene and the mtDNA ethnicity of HTLV-infected women, we have detected a major African contribution, with a predominance of Benin and Bantu types. (krisp.org.za)
  • There is also a pseudogene of beta (theta-beta) in the gene cluster. (curehunter.com)
  • The first was on the β-globin pseudogene and the second was on the GULO pseudogene. (blogspot.com)
  • I'll deal with the β-globin pseudogene in this post and the GULO pseudogene in a subsequent post. (blogspot.com)
  • The Human Beta-Globin Pseudogene is Non-Variable and Functional. (blogspot.com)
  • One of the iconic (yet enigmatic) arguments for human-ape common ancestry has been the β-globin pseudogene (HBBP1). (blogspot.com)
  • Instead of being a useless genomic fossil according to errant evolutionary predictions, the HBBP1 beta-globin pseudogene is genetically active and plays a key functional role in the genome as a cleverly engineered feature programmed by God the Creator. (icr.org)
  • The researchers then analyzed the HBBP1 pseudogene region for gene-function data, related to the ENCODE project, 2, 3 and found that it is actively associated with transcriptional (gene control) regulation in conjunction with the LCR region that controls the whole beta-globin gene cluster. (icr.org)
  • In addition, new information in the PseudoMap database 4 shows that the HBBP1 pseudogene encodes two different regulatory RNAs that are thought to control the first gene in the beta-globin cluster (HBE) that is involved in early embryogenesis. (icr.org)
  • We conclude that much of the observed clinical variability of beta thalassaemia can now be explained by the inheritance of beta thalassaemia chromosomes with different propensities for fetal haemoglobin production. (nih.gov)
  • From tandem duplication of a single globin locus, the α- and β-globin clusters expanded, and then were separated onto different chromosomes. (beds.ac.uk)
  • The previous finding of a fossil β-globin gene (ω) in the marsupial α-cluster, however, suggested that duplication of the α-β cluster onto two chromosomes, followed by lineage-specific gene loss and duplication, produced paralogous α- and β-globin clusters in birds and mammals. (beds.ac.uk)
  • In amniotes, α- and β-globin clusters are located on different chromosomes. (beds.ac.uk)
  • Each person possesses two copies of the beta globin gene, on separate homologous chromosomes. (encyclopedia.com)
  • Recall that the two beta chain alleles occur on different chromosomes. (encyclopedia.com)
  • 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)
  • Contrary to earlier reports, induction of a major increase in globin transcripts in the mouse spleen was not associated with a detectable level of antisense RNA to globin mRNA. (biomedcentral.com)
  • The vertical axis shows the relative amounts of β-globin gene primary transcripts, as determined by RT-qPCR analysis of RNA samples prepared from the blood of 3- and 9-day old chicken embryos. (biomedcentral.com)
  • The amounts of β-globin gene transcripts detected in different RNA samples were normalized to the number of cells used for preparation of these RNA samples. (biomedcentral.com)
  • In fact, up to 70% of the mRNA mass is from globin transcripts. (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)
  • However, the GLOBINclear process was able to rescue the decreased gene detection observed with RNA samples containing high levels of exogenous globin transcripts. (bio-medicine.org)
  • In contrast, the GLOBINclear Kit rescued the decreased gene detection observed when exogenous globin transcripts were spiked into the HeLa RNA samples. (bio-medicine.org)
  • It is caused by mutations in human beta globin genes that result in reduced or abolished beta globin synthesis. (grantome.com)
  • Hence hemoglobins and the globin genes encoding them have been an important system for investigating many biochemical and evolutionary issues. (semanticscholar.org)
  • Tests included qualitative and quantitative analyses of hemoglobins and qualitative and quantitative analyses of α and β globins, as well as hemochromocytometric analysis. (mdpi.com)
  • Two are alpha-globins and two are beta-globins. (psu.edu)
  • Genomic structure of the α- and β-globin gene families of M. musculus . (genetics.org)
  • Analysis of β-globin mRNA levels in chicken 3-day and 9-day embryonic red blood cells. (biomedcentral.com)
  • 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)
  • 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)