• Methemoglobinemia, beta-globin type is a condition that affects the function of red blood cells. (nih.gov)
  • The signs and symptoms of methemoglobinemia, beta-globin type are generally limited to cyanosis, which does not cause any health problems. (nih.gov)
  • The incidence of methemoglobinemia, beta-globin type is unknown. (nih.gov)
  • Methemoglobinemia, beta-globin type is caused by mutations in the HBB gene. (nih.gov)
  • HBB gene mutations that cause methemoglobinemia, beta-globin type change the structure of beta-globin and promote the heme iron to change from ferrous to ferric. (nih.gov)
  • Delayed globin synthesis leads to excess heme and the macrocytic anemia of Diamond Blackfan anemia and del(5q) myelodysplastic syndrome. (harvard.edu)
  • Phytogbs polypeptide chain folds into a particular arrangement of 6 to 7 helices (named with letters A to H) known as the globin fold which forms a hydrophobic pocket where heme is located. (wikipedia.org)
  • Like other globins, heme-Fe in Phytogbs is coordinated at the proximal region by a His amino acid (named as proximal His). (wikipedia.org)
  • Heme-Fe coordination is essential for Phytogb (and other globins) function because it regulates the rate of ligand-binding and -releasing as consequence of the kinetic constants kon and koff, respectively. (wikipedia.org)
  • Other tests look for globin, DNA, or other blood factors including transferrin, while conventional stool guaiac tests look for heme. (wikipedia.org)
  • Investigators are currently working on optimizing manufacturing of their vector, which is believed to achieve better expression of β-globin on a per-copy basis, and therefore the potential for superior clinical results, than other vectors utilized in treatments under development elsewhere. (mskcc.org)
  • Fine tuning of globin gene expression by DNA methylation. (nih.gov)
  • Expression patterns in the globin gene cluster are subject to developmental regulation in vivo. (nih.gov)
  • 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)
  • We show that the expression of BCL11A, a repressor of human gamma-globin expression identified by genome-wide association studies, differs between mouse and human. (nih.gov)
  • By comparing the ontogeny of beta-globin gene regulation in mice and humans, we have shown that alterations in the expression of a trans-acting factor constitute a critical driver of gene expression changes during evolution. (nih.gov)
  • c, Human fetal livers contain numerous erythroblasts, which all stain positive for γ-globin expression. (nih.gov)
  • Using human β-globin locus as a model, we investigated how the transcriptional machinery is set and regulated during erythropoiesis and how it impacts globally on gene expression. (umontreal.ca)
  • While α-globin protein alone is known to be unstable, the mechanisms that enable α-globin protein expression remain elusive. (jci.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)
  • These studies determined that the LCR was required for normal regulation of beta-globin gene expression. (wikipedia.org)
  • Two major groups of mutations can be distinguished: Nondeletion forms: These defects, in general, involve a single base substitution or small insertions near or upstream of the β globin gene. (wikipedia.org)
  • Although the fold of the globin superfamily is highly evolutionarily conserved, the sequences that form the fold can have as low as 16% sequence identity. (wikipedia.org)
  • Globin superfamily members share a common three-dimensional fold. (wikipedia.org)
  • Since the globin fold contains only helices, it is classified as an all-alpha protein fold. (wikipedia.org)
  • The globin fold is found in its namesake globin families as well as in phycocyanins. (wikipedia.org)
  • The globin fold was thus the first protein fold discovered (myoglobin was the first protein whose structure was solved). (wikipedia.org)
  • The eight helices of the globin fold core share significant nonlocal structure, unlike other structural motifs in which amino acids close to each other in primary sequence are also close in space. (wikipedia.org)
  • Truncated 2/2 globin: lack the first helix, giving them a 2-over-2 instead of the canonical 3-over-3 alpha-helical sandwich fold. (wikipedia.org)
  • Two types of the globin fold have been identified in Phytogbs: the 3/3- and 2/2-folding, where helices A, E and F overlap to helices B, G and H and helices B and E overlap to helices G and H, respectively. (wikipedia.org)
  • In fact, up to 70% of the mRNA mass is from globin transcripts. (bio-medicine.org)
  • Ambion's GLOBINclear-Human Kit is designed to rapidly deplete alpha and beta globin mRNA from total RNA preparations derived from human whole blood. (bio-medicine.org)
  • The kit employs a novel hybridization capture technology (see "Simple, Effective Globin mRNA Reduction Protocol" at right) that uses the power of biotin/streptavidin binding and the specificity of nucleic acid hybridization to effectively remove 9099.5% globin transcripts from blood total RNA (Figure 1). (bio-medicine.org)
  • To further test the specificity of globin mRNA reduction, synthetic globin transcripts were added to HeLa cell RNA, and samples were processed or left unprocessed with the GLOBINclear Kit (Figure 2). (bio-medicine.org)
  • Percent Present Calls for Samples Treated or Untreated with GLOBINclear-Human Globin mRNA Removal Kit. (bio-medicine.org)
  • Globin mRNA levels can vary among donors, which can unpredictably affect RNA amplification and array results and therefore, confound interpretations that are made when comparing different samples. (bio-medicine.org)
  • The GLOBINclear Kit contains enough reagents to deplete globin mRNA from 20 samples of total RNA derived from human whole blo od (110 g per sample). (bio-medicine.org)
  • Globin E: a globin responsible for storing and delivering oxygen to the retina in birds Globin-coupled sensors: chimeric, with an N-terminal myoglobin-like domain and a C-terminal domain that resembles the cytoplasmic signalling domain of bacterial chemoreceptors. (wikipedia.org)
  • The molecule also carries the important regulatory molecule nitric oxide bound to a globin protein thiol group, releasing it at the same time as oxygen. (wikipedia.org)
  • Neuroglobin is a member of the vertebrate globin family involved in cellular oxygen homeostasis. (wikipedia.org)
  • A few decades after Kubo's report the crystallization of a lupin phytoglobin (known as leghemoglobin) by Vainshtein and collaborator revealed that the tertiary structure of this protein and that of the sperm whale myoglobin was remarkably similar, thus indicating that the phytoglobin discovered by Kubo did indeed correspond to a globin. (wikipedia.org)
  • 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)
  • 2006 ). The first report of a microbial globin was in yeast over half a century ago, but, in the past 20 years, increasing molecular studies have revealed details of their structures and functions and the regulation of their biosynthesis. (springer.com)
  • Villeponteau was awarded a Molecular Biology Postdoctoral Fellowship in the UCLA Department of Chemistry and Biochemistry from 1978 to 1980, where he carried out genomic cloning of the B-globin gene cluster in Chickens. (wikipedia.org)
  • d,e, In contrast, murine fetal liver definitive erythroblasts do not show major γ-globin staining and only occasional cells with megaloblastic primitive morphology show staining (blue arrows). (nih.gov)
  • Cytoglobin is a globin molecule ubiquitously expressed in all tissues and most notably utilized in marine mammals. (wikipedia.org)
  • A. Two IEs (yellow) bounded by loxP elements (stippled black) were inserted into the γ A promoter region of a YAC containing the human β-globin locus , and this was used to generate transgenic mice that were then crossed with two different cre-expressing lines. (nih.gov)
  • FHb provides protection against nitric oxide via its C-terminal domain, which transfers electrons to haem in the globin. (wikipedia.org)
  • Poole RK, Hughes MN (2000) New functions for the ancient globin family: bacterial responses to nitric oxide and nitrosative stress. (springer.com)
  • 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)
  • For the first time, we found that in other hematopoietic lineages, human β-globin locus is in active chromatin and interacts with transcription factors involved in repression. (umontreal.ca)
  • 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)