Search results for "5' Flanking Region"

showing 8 items of 8 documents

Genomic organization and promoter characterization of the gene encoding a putative endoplasmic reticulum chaperone, ERp29

2002

Abstract ERp29 is a soluble protein localized in the endoplasmic reticulum (ER) of eukaryotic cells, which is conserved in all mammalian species. The N-terminal domain of ERp29 displays sequence and structural similarity to the protein disulfide isomerase despite the lack of the characteristic double cysteine motif. Although the exact function of ERp29 is not yet known, it was hypothesized that it may facilitate folding and/or export of secretory proteins in/from the ER. ERp29 is induced by ER stress, i.e. accumulation of unfolded proteins in the ER. To gain an insight into the mechanisms regulating ERp29 expression we have cloned and characterized the rat ERp29 gene and studied in details …

5' Flanking RegionRecombinant Fusion ProteinsMolecular Sequence DataCHO CellsBiologyCell LineMiceCricetinaeSequence Homology Nucleic AcidGene expressionTumor Cells CulturedGeneticsAnimalsHumansRNA MessengerLuciferasesPromoter Regions GeneticProtein disulfide-isomeraseGeneHeat-Shock ProteinsPhylogenyBase SequenceGene Expression ProfilingEndoplasmic reticulumPromoter3T3 CellsDNAExonsSequence Analysis DNAGeneral MedicineMolecular biologyIntronsRatsHousekeeping geneSecretory proteinGenesUnfolded protein responseFemaleTranscription Initiation SiteSequence AlignmentHeLa CellsGene
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Role and importance of polymorphisms with respect to DNA methylation for the expression of CYP2E1 enzyme

2014

Different individuals possess slightly different genetic information and show genetically-determined differences in several enzyme activities due to genetic variability. Following an integrated approach, we studied the polymorphisms and methylation of sites contained in the 5' flanking region of the metabolizing enzyme CYP2E1 in correlation to its expression in both tumor and non-neoplastic liver cell lines, since to date little is known about the influence of these (epi)genetic elements in basal conditions and under induction by the specific inductor and a demethylating agent. In treated cells, reduced DNA methylation, assessed both at genomic and gene level, was not consistently associate…

Genotype5' Flanking RegionCell Survival5' flanking regionMinisatellite RepeatsBiologyGene Expression Regulation EnzymologicGenotypeGeneticsCYP2E1 gene polymorphismTumor Cells CulturedHumansGeneHepatocellular carcinoma cell lines; CYP2E1 gene polymorphisms; DNA methylation; 5-Azacytidine; Ethanol;GeneticsPolymorphism GeneticEthanolLiver cellHaplotype5-AzacytidineCytochrome P-450 CYP2E1General MedicineMethylationHep G2 CellsHepatocellular carcinoma cell lineDNA MethylationMolecular biologySettore BIO/18 - GeneticaDNA methylationAzacitidineRestriction fragment length polymorphismPolymorphism Restriction Fragment Length
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Chromatin structure of the 5′ flanking region of the yeastLEU2 gene

1989

The chromatin structure of theLEU2 gene and its flanks has been studied by means of nuclease digestion, both with micrococcal nuclease and DNase I. The gene is organized in an array of positioned nucleosomes. Within the promoter region, the nucleosome positioning places the regulatory sequences, putative TATA box and upstream activator sequence outside the nucleosomal cores. The tRNA3 Leu gene possesses a characteristic structure and is protected against nucleases. Most of the 5′ flank is sensitive to DNase I digestion, although no clear hypersensitive sites were found. The chromatin structure is independent of either the transcriptional state of the gene or the chromosomal or episomal loca…

biologyGenes Fungal5' flanking regionSaccharomyces cerevisiaeTATA BoxMolecular biologyChromatinChromatin3-Isopropylmalate DehydrogenaseAlcohol OxidoreductasesGeneticsbiology.proteinDeoxyribonuclease IMicrococcal NucleaseNucleosomeDNase I hypersensitive siteDeoxyribonuclease IMolecular BiologyHypersensitive siteAllelesChIA-PETMicrococcal nucleaseMolecular and General Genetics MGG
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Neuronal precursor-specific activity of a human doublecortin regulatory sequence.

2005

The doublecortin (DCX) gene encodes a 40-kDa microtubule-associated protein specifically expressed in neuronal precursors of the developing and adult CNS. Due to its specific expression pattern, attention was drawn to DCX as a marker for neuronal precursors and neurogenesis, thereby underscoring the importance of its promoter identification and promoter analysis. Here, we analysed the human DCX regulatory sequence and confined it to a 3.5-kb fragment upstream of the ATG start codon. We demonstrate by transient transfection experiments that this fragment is sufficient and specific to drive expression of reporter genes in embryonic and adult neuronal precursors. The activity of this regulator…

Doublecortin Domain ProteinsDoublecortin Protein5' Flanking RegionBlotting WesternMolecular Sequence DataRegulatory Sequences Nucleic AcidTransfectionBiochemistryHippocampusCellular and Molecular NeuroscienceMiceGene expressionAnimalsHumansCell LineageGrowth SubstancesGeneTranscription factorCells CulturedSequence DeletionRegulation of gene expressionNeuronsReporter genebiologyBase SequenceStem CellsNeurogenesisNeuropeptidesBrainSequence Analysis DNAMolecular biologyDoublecortinMice Inbred C57BLGene Expression RegulationRegulatory sequencebiology.proteinMicrotubule-Associated ProteinsJournal of neurochemistry
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Lack of genetic association of neutral endopeptidase (NEP) with complex regional pain syndrome (CRPS)

2010

Complex regional pain syndrome (CRPS) is a condition that is characterized by severe pain and exaggerated neurogenic inflammation, which may develop after injury or surgery. Neurogenic inflammation is mediated by neuropeptides, such as calcitonin gene-related peptide (CGRP) and substance P (SP) that are released from nociceptors. Genetic factors may play a role in CRPS as was suggested by the occurrence of familial cases and several genetic association studies investigating mainly the human leukocyte antigen (HLA) system. Here we investigated the role of neutral endopeptidase (NEP), a key enzyme in neuropeptide catabolism. NEP dysfunction resulting in reduced inactivation of neuropeptides m…

AdultMalemedicine.medical_specialtyLinkage disequilibrium5' Flanking RegionSubstance PHuman leukocyte antigenBiologyCalcitonin gene-related peptideLinkage Disequilibriumchemistry.chemical_compoundInternal medicinemedicineHumansGenetic Predisposition to DiseaseDinucleotide RepeatsPromoter Regions GeneticNeprilysinGenetic Association StudiesGenetic associationNeurogenic inflammationPolymorphism GeneticGeneral NeurosciencefungiMiddle Agedmedicine.diseaseCRPS Pain NEP Association reflex sympathetic dystrophy syndrome type-i facilitated neurogenic inflammation nociceptive abnormalities alzheimers-disease neprilysin gene rat model enkephalinase prevalence dystoniaEndocrinologyComplex regional pain syndromechemistryCase-Control StudiesFemaleNeprilysinComplex Regional Pain Syndromes
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Sequence of a sea urchin hsp70 gene and its 5' flanking region.

1990

We report the nucleotide sequence of a 4470-bp fragment derived from a sea urchin genomic clone containing part of a heat-shock protein 70 (Hsp70)-encoding gene. This fragment, named hsp70 gene II, contains 1271 bp of the flanking region and 3299 bp of structural gene sequence interrupted by five introns and encoding the N-terminal 371 amino acids (aa) of the protein. The 5' flanking region contains a putative TATA element, two CCAAT boxes, four heat-shock consensus sequence elements (hse) and one consensus sequence for binding of Sp1. Remarkable homologies were observed for deduced aa sequence and intron-exon organization between hsp70 gene II and rat hsc73 gene.

5' flanking regionMolecular Sequence DataRestriction MappingBiologyExonSequence Homology Nucleic AcidConsensus SequenceGeneticsConsensus sequenceAnimalsAmino Acid SequencePromoter Regions GeneticGenePeptide sequenceHeat-Shock ProteinsGeneticsBase SequenceStructural geneNucleic acid sequenceGeneral MedicineExonsMolecular biologyIntronsGenesRegulatory sequenceSea UrchinsGene
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Transcription of human neuronal nitric oxide synthase mRNAs derived from different first exons is partly controlled by exon 1-specific promoter seque…

2006

AbstractThe human neuronal nitric oxide synthase (NOS1) gene is subject to extensive splicing. A total of 12 NOS1 mRNA species have been identified. They differ in their 5′ ends and are derived from 12 different first exons (termed exons 1a to 1l). Various cell lines whose NOS1 first exon expression patterns were representative of human brain, skin, and skeletal muscle were identified. These included A673 neuroepithelioma cells, SK-N-MC neuroblastoma cells, HaCaT keratinocyte-like cells, and C2C12 myocyte-like cells. In these cell lines, correlations were found between the exon 1 variants preferentially expressed and the promoter activities of their cognate 5′ flanking sequences. These data…

Transcription Genetic5' Flanking Region5' flanking regionReporter gene assaysSkeletal muscleNitric Oxide Synthase Type IBiologyKidneyHippocampusCell LineRT real-time PCRExonExon trappingGenes ReporterTestisGeneticsHumansRNA MessengerCloning MolecularLuciferasesPromoter Regions GeneticGeneSkinBinding SitesSplice site mutationReverse Transcriptase Polymerase Chain ReactionAlternative splicingGenetic VariationHeartExonsMolecular biologyAlternative SplicingRNA splicingCortexTandem exon duplicationProtein BindingTranscription FactorsGenomics
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Genomic structure and functional characterization of the human ADAM10 promoter

2005

The ADAM10 gene encodes a membrane-bound disintegrin-metalloproteinase, which, after overexpression in an Alzheimer disease (AD) mouse model, prevents amyloid pathology and improves long-term potentiation and memory. Because enhancing ADAM10 expression appears to be a reasonable approach for treatment of AD, we functionally analyzed the ADAM10 gene. Both human and mouse ADAM10 genes comprise approximately 160 kbp, are composed of 16 exons, and are evolutionarily highly conserved within 500 bp upstream of either translation initiation site. By using luciferase reporter assays, we demonstrate that nucleotides -2179 to -1 upstream of the human ADAM10 translation initiation site represent a fun…

5' Flanking Region5' flanking regionTretinoinBiologyPolymorphism Single NucleotideBiochemistryCell LineConserved sequenceADAM10 ProteinMiceOpen Reading FramesExonAlzheimer DiseaseGeneticsAnimalsHumansPromoter Regions GeneticMolecular BiologyTranscription factorGeneConserved SequenceExpressed Sequence TagsIntronMembrane ProteinsPromoterExonsMolecular biologyIntronsADAM ProteinsOpen reading frameMutagenesis Site-DirectedAmyloid Precursor Protein SecretasesBiotechnologyThe FASEB Journal
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