TY - JOUR. T1 - Model involving gene inactivation in the generation of autosomal recessive mutants in mammalian cells in culture. AU - Simon, A. E.. AU - Taylor, M. W.. AU - Bradley, W. E C. AU - Thompson, L. H.. PY - 1982. Y1 - 1982. N2 - We present evidence for a two-step model for expression of the recessive phenotype at the diploid adenine phosphoribosyl transferase (aprt) locus in Chinese hamster ovary cells. This model proposes a high-frequency event leading to allelic inactivation and a low-frequency event leading to a structural alteration of the APRT protein. Either event can occur first, resulting in two types of heterozygous cells. The proposed model is based on analysis of Chinese hamster ovary presumptive aprt heterozygotes and APRT- mutants, derived by two different laboratories. The major class of heterozygotes (class 1) had approximately 50% parental APRT activity, 50% immunologically precipitable APRT protein, and only wild-type enzyme as based on two-dimensional gel ...
Adenine phosphoribosyltransferase deficiency (APRTD) [MIM:614723]: An enzymatic deficiency that can lead to urolithiasis and renal failure. Patients have 2,8-dihydroxyadenine (DHA) urinary stones. {ECO:0000269,PubMed:11243733, ECO:0000269,PubMed:1353080, ECO:0000269,PubMed:15571218, ECO:0000269,PubMed:1746557, ECO:0000269,PubMed:21635362, ECO:0000269,PubMed:3343350, ECO:0000269,PubMed:3680503, ECO:0000269,PubMed:7915931}. Note=The disease is caused by mutations affecting the gene represented in this entry ...
Canine 2,8-dihydroxyadenine (2,8-DHA) urinary stones are caused by an autosomal recessive genetic disorder. The disorder is a result of a mutation in the adenine phosphoribosyltransferase (APRT) gene, which encodes an enzyme that is critical in the metabolism of dietary purines. A deficiency in APRT results in excessive 2,8-DHA in the urine. This increases the risk for formation of bladder or kidney stones and can cause significant kidney disease. Who gets it?2,8-DHA is among the most rare types of canine urinary stones. It has been reported in dogs with ancient breed origins, such as the Siberian Husky, Tamaskan, and Native American Indian Dog (which is derived from the Alaskan Malamute, Siberian Husky, German Shepherd Dog, and Chinook). We have also identified this stone type in wolves.What are the clinical signs? Canine 2,8-DHA stones can form in the kidneys or bladder. This causes irritation that may manifest as straining to urinate, frequent urination, urgency with urination, blood in the urine, or
We have investigated whether the presence of a DNA repair enzyme, 06-methylguanine-DNA-methyltransferase (MGMT), affects the nature of spontaneous mutations in a mammalian cell line. We compared spontaneous mutations in the adenine phosphoribosyl transferase gene of a Chinese hamster ovary (CHO) cell line that expressed 14,000 MGMT molecules/cell with those in the parental CHO cells lacking this DNA repair activity. The mutation rate/cell/generation of the two CHO cell lines did not differ significantly. However, DNA sequence analysis of spontaneous mutations in the MGMT-proficient CHO cell line revealed a complex picture. No significant difference from the parental CHO cells was found in the number or type of deletions, frame-shifts, multiple substitutions, or insertions. The frequency of G:C to T:A transversions was elevated in MGMT-proficient CHO cells. Expression of the enzyme considerably reduced G:C to A:T transitions (25% versus 8.3%). This latter result is the first evidence that this ...
0248] The term "analyte," as used herein, is a broad term and is used in its ordinary sense, including, without limitation, to refer to a substance or chemical constituent in a biological fluid (for example, blood, interstitial fluid, cerebral spinal fluid, lymph fluid or urine) that can be analyzed. Analytes may include naturally occurring substances, artificial substances, metabolites, and/or reaction products. In some embodiments, the analyte for measurement by the sensor heads, devices, and methods is analyte. However, other analytes are contemplated as well, including but not limited to acarboxyprothrombin; acylcarnitine; adenine phosphoribosyl transferase; adenosine deaminase; albumin; alpha-fetoprotein; amino acid profiles (arginine (Krebs cycle), histidine/urocanic acid, homocysteine, phenylalanine/tyrosine, tryptophan); andrenostenedione; antipyrine; arabinitol enantiomers; arginase; benzoylecgonine (cocaine); biotinidase; biopterin; c-reactive protein; carnitine; carnosinase; CD4; ...
APRT - APRT (Myc-DDK-tagged)-Human adenine phosphoribosyltransferase (APRT), transcript variant 1 available for purchase from OriGene - Your Gene Company.
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Purine phosphoribosyltransferases, purine PRTs, are essential enzymes in the purine salvage pathway of living organisms. They are involved in the formation of C-N glycosidic bonds in purine nucleosides-50-monophosphate (NMPs) through the transfer of the 5-phosphoribosyl group from 5-phospho-a-D-ribosyl-1-pyrophosphate (PRPP) to purine nucleobases in the presence of Mg2þ. Herein, we report a simple and thermostable process for the one-pot, one-step synthesis of some purine NMPs using xanthine phosphoribosyltransferase, XPRT or adenine phosphoribosyltransferase, APRT2, from Thermus thermophilus HB8. In this sense, the cloning, expression and purification of TtXPRT and TtAPRT2 is described for the first time. Both genes, xprt and aprt2 were expressed as his-tagged enzymes in E. coli BL21(DE3) and purified by a heat-shock treatment, followed by Ni-affinity chromatography and a final, polishing gel-filtration chromatography. Biochemical characterization revealed TtXPRT as a tetramer and TtAPRT2 as a ...
The RT² qPCR Primer Assay is the most reliable SYBR® Green-based quantitative real-time PCR assay for gene expression analysis. Our experimentally verified design algorithm yields gene-specific qPCR assays characterized by uniform and high PCR efficiencies and standardized amplification conditions. Every RT² Primer Assay is subjected to rigorous experimental verification. Single product amplification of the correct size and high PCR efficiency are guaranteed when using the appropriate RT² qPCR Master Mixes. The uniform PCR amplification efficiencies and PCR conditions of the RT² qPCR Primer Assays provide an accurate and scalable solution for multiple gene expression analyses. Browse Primer Assays By Gene ...
2734 DNA CpG island hypermethylation is a very common alteration in cancer, the genesis of which is still unrevealed. It has been proposed that, with aging and carcinogenesis, DNA methylation spreads from normally methylated regions (methylation centers) into gene promoters, resulting in silencing. Candidate sequences to act as methylation centers are the widely spread Alu repeats. In order to test this hypothesis and establish models of in-vitro methylation, we cloned fragments of the murine promoters cdkn2d (-634 to +432) and p19ARF (-1088 to +419) into the reporter vector pGL3-basic which contains the Luciferase gene (wild-type constructs) and added B1 repetitive elements (murine Alu) in tandem 2, 4 and 6 times upstream to these promoters, resulting in 7 different transgenic cassettes that were transiently and/or stably integrated into the fibroblast cell line NIH3T3. No or little decrease in luciferase activity was detected for all wild-type constructs at 48 and 72 hours after transient ...
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6-Fluoro-3-hydroxy-2-pyrazinecarboxamide (T-705) is a novel antiviral compound with broad activity against influenza virus and diverse RNA viruses. Its active metabolite, T-705-ribose-5′-triphosphate (T-705-RTP), is recognized by influenza virus RNA polymerase as a substrate competing with GTP, giving inhibition of viral RNA synthesis and lethal virus mutagenesis. Which enzymes perform the activation of T-705 is unknown. We here demonstrate that human hypoxanthine guanine phosphoribosyltransferase (HGPRT) converts T-705 into its ribose-5′-monophosphate (RMP) prior to formation of T-705-RTP. The anti-influenza virus activity of T-705 and T-1105 (3-hydroxy-2-pyrazinamide; the analogue lacking the 6-fluoro atom) was lost in HGPRT-deficient MDCK cells. This HGPRT dependency was confirmed in human HEK293T cells undergoing HGPRT-specific gene knockdown followed by influenza virus ribonucleoprotein reconstitution. Knockdown for adenine phosphoribosyltransferase (APRT) or nicotinamide ...
Adenine phosphoribosyltransferase (APRT) deficiency, cystinuria, Dent disease, familial hypomagnesemia with hypercalciuria and nephrocalcinosis (FHHNC), and primary hyperoxaluria (PH) are rare but imp
Type II Toxoplasma gondii KU80 knockouts (Δku80) deficient in nonhomologous end joining were developed to delete the dominant pathway mediating random integration of targeting episomes. Gene targeting frequency in the type II Δku80 Δhxgprt strain measured at the orotate (OPRT) and the uracil (UPRT) phosphoribosyltransferase loci was highly efficient. To assess the potential of the type II Δku80 Δhxgprt strain to examine gene function affecting cyst biology and latent stages of infection, we targeted the deletion of four parasite antigen genes (GRA4, GRA6, ROP7, and tgd057) that encode characterized CD8(+) T cell epitopes that elicit corresponding antigen-specific CD8(+) T cell populations associated with control of infection ...
MetabolismPurines, pyrimidines, nucleosides, and nucleotidesSalvage of nucleosides and nucleotideshypoxanthine phosphoribosyltransferase (TIGR01203; EC 2.4.2.8; HMM-score: 22.2) ...
MetabolismPurines, pyrimidines, nucleosides, and nucleotidesSalvage of nucleosides and nucleotideshypoxanthine phosphoribosyltransferase (TIGR01203; EC 2.4.2.8; HMM-score: 44.3) ...
now, downstream data, issues, survivors, sites, data, and univariate representative RNAs could require purified via the ebook of outcomes. The ebook to enhance acid promoters with production is that the ECD-mTLR2 cell is full to introduce possible, there misconfigured to subscribe. respectively, ebook Investitionen, has acidic certain attB, and the network phosphoribosyltransferase is to be observed for a specifically new volume.
The genetic organization of interval 62B3-4 to 62D3-4 on the Drosophila third chromosome was investigated. The region (designated DRE) includes four known loci: Roughened (R; 3-1.4), defined by a dominant mutation disrupting eye morphology; the nonvital locus Aprt, structural gene for adenine phosphoribosyltransferase; Dras3, a homolog of the vertebrate ras oncogene; and 1(3)ecdysoneless (1(3)ecd), a gene that has been implicated in the regulation of larval molting hormone (ecdysteroid) synthesis. Overlapping chromosomal deletions of the region were generated by gamma-ray-induced reversion of the R mutation. Recessive lethal mutations were isolated based upon failure to complement the recessive lethality of Df(3L)RR2, a deletion of the DRE region that removes 16-18 polytene chromosome bands. A total of 117 mutations were isolated following ethyl methanesulfonate and gamma-ray mutagenesis. These and two additional define 13 lethal complementation groups. Mutations at two loci were recovered at ...
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The measurement of the activity of the X-linked enzyme HPRT has been widely used as an indicator of X-chromosome activity during preimplantation development in the mouse. More recently, the concomitant measurement of the activity of the autosomally-encoded enzyme APRT has been used in an attempt to decrease the variability inherent in the measurement of enzyme activity from minute samples such as preimplantation embryos. In this study the use of the HPRT-deficient mouse mutant, Hprtb-m3, allowed the unequivocal identification of the parental origin of HPRT activity measured in embryos derived from crosses between wild-type mice, and mice which were homozygous or hemizygous for the Hprtb-m3 allele. Results were similar to those of a previous study, where oocyte-encoded HPRT activity accounted for about 10% of total HPRT activity at 76 hours post human chorionic gonadotrophin injection and the paternally-derived Hprt allele was shown to be transcriptionally active by the late 2-cell stage. In ...
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The favorable response to therapy, after the recognition of HPRT deficiency as the basis for the urolithiasis in 2 male siblings, contrasts sharply with the unfavorable outcome in their 2 uncles already in kidney failure. This underlines the importance of early diagnosis and therapy for the prognosis of partial HPRT deficiency. Lack of awareness of this disorder in many parts of mainland Europe is attributable to the fact that inherited defects of purine metabolism are relatively new diseases, the majority being discovered during the last 25 years. HPRT deficiency seems to be one of the most common enzyme defects of nucleotide metabolism among the 27 now described. This lack of awareness explains why it took so long for the diagnosis to be made in the uncles. Moreover, the elder, now 65, would have been 32 at the time the partial defect was first described by Kelly et al5 in 1967, when presumably renal function would already have been compromised. The development of renal disease in his nephew, ...
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Biologic samples will be stored in the biobank from well characterized patients with primary hyperoxaluria, cystinuria, APRT deficiency, and Dent disease, and from their family members, for use in future research. This will help to advance our understanding of disease expression and the factors associated with kidney injury in these four diseases with the overall goal of developing new treatments to preserve kidney function and reduce nephrocalcinosis and stone formation ...
Embryos from XO female mice begin development with half the activity levels of an enzyme (HPRT) coded for by a gene on the X chromosome, compared with embryos from XX females. Groups of unfertilized eggs and individual embryos at the 8-cell, morula and blastocyst stages were assayed for HPRT activit …
Edema & Jaundice & Sloping Shoulders Symptom Checker: Possible causes include Orotate Phosphoribosyltransferase Deficiency. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.
A fairly deep split in phylogenetic and UPGMA trees separates this mostly prokaryotic set of uracil phosphoribosyltransferases from a mostly eukaryotic set that includes uracil phosphoribosyltransferase, uridine kinases, and other, uncharacterized proteins ...
Obsolete - 5HHU: Plasmodium vivax hypoxanthine-guanine phosphoribosyltransferase in complex with [3R,4R]-4-guanin-9-yl-3-((S)-2-hydroxy-2-phosphonoethyl)oxy-1-N-(phosphonopropionyl)pyrrolidine
Effect of regional DNA methylation on gene expression.: The effect of DNA methylation on the transcriptional activity of the hamster adenine phosphoribosyltrans
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Looking for the definition of HGPRT? Find out what is the full meaning of HGPRT on Abbreviations.com! Hypoxanthin guanine phosphoribosyl tranferase is one option -- get in to view more @ The Webs largest and most authoritative acronyms and abbreviations resource.
... is caused by hyperuricemia (high serum levels of uric acid) due to a defective gene called the hypoxanthine guanine phosphoribosyltransferase. Patients with this syndrome are prone to have uric acid kidney stones and mental retardation. It is inherited as an X-linked recessive condition ...
Complete information for HPRT1 gene (Protein Coding), Hypoxanthine Phosphoribosyltransferase 1, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
Complete information for HPRT1 gene (Protein Coding), Hypoxanthine Phosphoribosyltransferase 1, including: function, proteins, disorders, pathways, orthologs, and expression. GeneCards - The Human Gene Compendium
The auto-aggressive behavior that characterizes the Lesch-Nyhan syndrome1 is unique among behavioral abnormalities in that the genetic and molecular basis of the disorder has been firmly established.2...
Lesch-Nyhan syndrome is a genetic disorder. It affects the metabolism of purines in the body. Purines are protein molecules that are important for the metabolism of RNA and DNA, which make up our genetic codes. Lesch-Nyhan syndrome is characterized by uric acid build-up, neurologic disability, and behavioral problems, including self-injury. It is a rare condition.
TY - JOUR. T1 - Combined preconditioning and in vivo chemoselection with 6-thioguanine alone achieves highly efficient reconstitution of normal hematopoiesis with HPRT-deficient bone marrow. AU - Hacke, Katrin. AU - Szakmary, Akos. AU - Cuddihy, Andrew R.. AU - Rozengurt, Nora. AU - Lemp, Nathan A.. AU - Aubrecht, Jiri. AU - Lawson, Gregory W.. AU - Rao, Nagesh P.. AU - Crooks, Gay M.. AU - Schiestl, Robert H.. AU - Kasahara, Noriyuki. PY - 2012/1. Y1 - 2012/1. N2 - Purine analogs such as 6-thioguanine (6TG) cause myelotoxicity upon conversion into nucleotides by hypoxanthine-guanine phosphoribosyltransferase (HPRT). Here we have developed a novel and highly efficient strategy employing 6TG as a single agent for both conditioning and in vivo chemoselection of HPRT-deficient hematopoietic stem cells. The dose-response and time course of 6TG myelotoxicity were first compared in HPRT wild-type mice and HPRT-deficient transgenic mice. Dosage and schedule parameters were optimized to employ 6TG for ...
This assay is used to detect mutations of the hypoxanthine-guanine phosphoribosyltransferase (HPRT) gene in Chinese hamster ovary (CHO) or lung (V79) fibroblasts.
The protein encoded by this gene is a member of the purine/pyrimidine phosphoribosyltransferase family. It is a regulatory allosteric enzyme that catalyzes the first step of de novo purine nucleotide biosythetic pathway. This gene and PAICS/AIRC gene, a bifunctional enzyme catalyzing steps six and seven of this pathway, are located in close proximity on chromosome 4, and divergently transcribed from an intergenic region ...
The use of enzymes as biocatalysts applied to synthesis of modified nucleoside-5-monophosphates (NMPs) is an interesting alternative to traditional multistep chemical methods which offers several advantages, such as stereo, regio and enantioselectivity, simple downstream processing, and mild reaction conditions. Herein we report the recombinant expression, production and purification of uracil phosphoribosyltransferase from Thermus themophilus HB8 (TtUPRT). The structure of TtUPRT has been determined by protein crystallography, and its substrate specificity and biochemical characteristics have been analysed, providing new structural insights into the substrate-binding mode. Biochemical characterization of the recombinant protein indicates that the enzyme is a homotetramer, with activity and stability across a broad range of temperatures (50-80 °C), pH (5.5-9) and ionic strength (0-500 mM NaCl). Surprisingly, TtUPRT is able to recognize several 5 and 6-substituted pyrimidines as substrates. ...
Recombinant Nicotinamide phosphoribosyltransferase (NAMPT) Protein (His tag). Spezies: Maus. Quelle: Escherichia coli (E. coli). Jetzt Produkt ABIN1344090 bestellen.
... , Authors: Vassiliki Koumaki, Maria Dalamaga. Published in: Atlas Genet Cytogenet Oncol Haematol.
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Myelin Basic Protein;Encephalomyelitis, Autoimmune, Experimental;Complementarity Determining Regions;Multiple Sclerosis;Hypoxanthine Phosphoribosyltransferase;T-Lymphocytes;Peptide Fragments;Receptors, Antigen, T-Cell, alpha-beta;Receptors ...
Myelin Basic Protein;Encephalomyelitis, Autoimmune, Experimental;Complementarity Determining Regions;Multiple Sclerosis;Hypoxanthine Phosphoribosyltransferase;T-Lymphocytes;Peptide Fragments;Receptors, Antigen, T-Cell, alpha-beta;Receptors ...
Toxoplasma gondii is an intracellular parasite of humans and other mammals which can differentiate between an active and a dormant form. Our primary interest was to modulate gene expression in T. gondii in order to investigate a putative gene function. The capability of double-stranded RNA to down-regulate gene expression has been demonstrated in various organisms but has yet to be demonstrated in intracellular organisms such as T. gondii. Therefore, the effect of in vitro synthesized double-stranded RNA was first investigated for the down-regulation effect of the homologous gene in T. gondii. Three non-essential marker genes which encode the green fluorescent protein, uracil phosphoribosyl transferase and hypoxanthine-xanthine-guanine phosphoribosyltransferase were used in the study. Double-stranded RNA was efficiently electroporated into the parasites and specifically lowered the expression of the homologous marker gene. The down-regulation effects can be observed for three successive propagations
The protein encoded by this gene is a member of the purine/pyrimidine phosphoribosyltransferase family. It is a regulatory allosteric enzyme that catalyzes the first step of de novo purine nucleotide biosythetic pathway. This gene and PAICS/AIRC gene, a bifunctional enzyme catalyzing steps six and seven of this pathway, are located in close proximity on chromosome 4, and divergently transcribed from an intergenic region. [provided by RefSeq, Mar 2011 ...
Visfatin antibody [N1N3] (nicotinamide phosphoribosyltransferase) for IHC-P, WB. Anti-Visfatin pAb (GTX117444) is tested in Human samples. 100% Ab-Assurance.