Search results for "DELETION"

showing 10 items of 383 documents

Identification of Two Mannoproteins Released from Cell Walls of a Saccharomyces cerevisiae mnn1 mnn9 Double Mutant by Reducing Agents

1999

The cell wall of Saccharomyces cerevisiae represents some 30% of the total weight of the cell and is made up of β-glucans, mannose-containing glycoproteins (mannoproteins), and small amounts of chitin (9, 15). The mannoproteins can be divided into three groups according to the linkages that bind them to the structure of the cell wall: (i) noncovalently bound, (ii) covalently bound to the structural glucan, and (iii) disulfide bound to other proteins that are themselves covalently bound to the structural glucan of the cell wall (8). Our work has focused on the disulfide-bound mannoproteins, probably the least well known of the three groups mentioned above. Previous work (25) showed that trea…

GlycosylationSaccharomyces cerevisiae ProteinsGlycosylationBlotting WesternMolecular Sequence DataSaccharomyces cerevisiaeSaccharomyces cerevisiaeMicrobiologyGene Expression Regulation EnzymologicFungal ProteinsCell wallOpen Reading FramesSurface-Active Agentschemistry.chemical_compoundCell WallGene Expression Regulation FungalEndopeptidasesAspartic Acid EndopeptidasesAmino Acid SequenceSubtilisinsFluorescent Antibody Technique IndirectMolecular BiologyMercaptoethanolGlucanGel electrophoresischemistry.chemical_classificationFungal proteinMembrane GlycoproteinsbiologySodium Dodecyl SulfateBiological Transportbiology.organism_classificationRecombinant ProteinsYeastMolecular Weightcarbohydrates (lipids)Cytoskeletal ProteinsEukaryotic CellsPhenotypechemistryBiochemistryMutagenesisReducing AgentsElectrophoresis Polyacrylamide GelProprotein ConvertasesProtein Tyrosine PhosphatasesGlycoproteinGene DeletionJournal of Bacteriology
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Widespread transcriptional gene inactivation initiated by a repair intermediate of 8-oxoguanine.

2016

DNA damage can significantly modulate expression of the affected genes either by direct structural interference with transcription components or as a collateral outcome of cellular repair attempts. Thus, DNA glycosylases of the base excision repair (BER) pathway have been implicated in negative transcriptional response to several spontaneously generated DNA base modifications, including a common oxidative DNA base modification 8-oxoguanine (8-oxoG). Here, we report that single 8-oxoG situated in the non-transcribed DNA strand of a reporter gene has a pronounced negative effect on transcription, driven by promoters of various strength and with different structural properties, including viral…

GuanineDNA RepairTranscription GeneticDNAGenome Integrity Repair and ReplicationHydroxamic AcidsResponse ElementsDNA GlycosylasesDNA-(Apurinic or Apyrimidinic Site) LyaseHumansGene SilencingPromoter Regions GeneticHeLa CellsPlasmidsSequence DeletionNucleic acids research
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Genetic manipulation of longevity-related genes as a tool to regulate yeast life span and metabolite production during winemaking

2013

Abstract Background Yeast viability and vitality are essential for different industrial processes where the yeast Saccharomyces cerevisiae is used as a biotechnological tool. Therefore, the decline of yeast biological functions during aging may compromise their successful biotechnological use. Life span is controlled by a variety of molecular mechanisms, many of which are connected to stress tolerance and genomic stability, although the metabolic status of a cell has proven a main factor affecting its longevity. Acetic acid and ethanol accumulation shorten chronological life span (CLS), while glycerol extends it. Results Different age-related gene classes have been modified by deletion or o…

HST3GlycerolSaccharomyces cerevisiae ProteinsTranscription Genetic<it>HST3</it>Saccharomyces cerevisiaeLongevitylcsh:QR1-502SOD2BioengineeringApoptosisWinePUB1Saccharomyces cerevisiaeStressApplied Microbiology and Biotechnologylcsh:MicrobiologyHistone DeacetylasesStress granuleSirtuin 2<it>PUB1</it>Gene expressionChronological agingSirtuinsNADH NADPH OxidoreductasesRNA MessengerEthanol metabolismSilent Information Regulator Proteins Saccharomyces cerevisiaeAcetic AcidbiologyEthanolSuperoxide DismutaseResearchRNA-Binding Proteinsbiology.organism_classificationYeastYeastBiochemistryCaspasesFermentationMutationFermentationHistone deacetylaseGene DeletionBiotechnologyMicrobial Cell Factories
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Two Host Clades, Two Bacterial Arsenals: Evolution through Gene Losses in Facultative Endosymbionts.

2015

International audience; Bacterial endosymbiosis is an important evolutionary process in insects, which can harbor both obligate and facultative symbionts. The evolution of these symbionts is driven by evolutionary convergence, and they exhibit among the tiniest genomes in prokaryotes. The large host spectrum of facultative symbionts and the high diversity of strategies they use to infect new hosts probably impact the evolution of their genome and explain why they undergo less severe genomic erosion than obligate symbionts. Candidatus Hamiltonella defensa is suitable for the investigation of the genomic evolution of facultative symbionts because the bacteria are engaged in specific relations…

Hamiltonella defensaVirulence Factors[SDV]Life Sciences [q-bio]fungifood and beveragesGenomicscomparative genomicsbiochemical phenomena metabolism and nutritionBemisia tabaciEvolution MolecularHemipteraaphidsEnterobacteriaceaeCell WallAnimals[INFO.INFO-BI]Computer Science [cs]/Bioinformatics [q-bio.QM]SymbiosisGene DeletionGenome BacterialPhylogenyResearch Article
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Array-CGH and clinical characterization in a patient with subtelomeric 6p deletion without ocular dysgenesis

2011

Subtelomeric terminal 6p deletion has been recognized as a clinically identifiable syndrome including facial dysmorphism, malformation of the anterior eye chamber, hearing loss, heart defect and developmental delay. Genotype –phenotype correlations of previously published patients have been strongly suggested anterior eye segment anomalies as one of major malformation of the syndrome if the critical 6p25 region containing the FOXC 1 gene. In addition it has been hypothesized the presence in this region of one or more genes involved in hearing loss. We report on a case of terminal 6p deletion in a 47, XYY karyotype. Further characterization of the deletion with array comparative genome hybri…

Heart Defects CongenitalMaleHearing lossDevelopmental DisabilitiesKaryotypeBiologyEyeDysgenesisSettore MED/38 - Pediatria Generale E SpecialisticaChromosome 19GeneticsmedicineHumansarray-CGH.Eye AbnormalitiesGeneGenetics (clinical)Genetic Association StudiesIn Situ Hybridization FluorescenceGeneticsComparative Genomic Hybridizationeye abnormalitieInfantKaryotypeForkhead Transcription Factorshearing loSubtelomereAnterior Eye SegmentSettore MED/03 - Genetica MedicaChromosomes Human Pair 6FOXC1medicine.symptomChromosome Deletionchromosome 6p deletionComparative genomic hybridization
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De novo 13q deletions in two patients with mild anorectal malformations as part of VATER/VACTERL and VATER/VACTERL-like association and analysis of E…

2013

Item does not contain fulltext Anorectal malformations (ARMs) comprise a broad spectrum of conditions ranging from mild anal anomalies to complex cloacal malformations. In 40-50% of cases, ARM occurs within the context of defined genetic syndromes or complex multiple congenital anomalies, such as VATER/VACTERL (vertebral defects [V], ARMs [A], cardiac defects [C], tracheoesophageal fistula with or without esophageal atresia [TE], renal malformations [R], and limb defects [L]) association. Here, we report the identification of deletions at chromosome 13q using single nucleotide polymorphism-based array analysis in two patients with mild ARM as part of VATER/VACTERL and VATER/VACTERL-like ass…

Heart Defects CongenitalMalemedicine.medical_specialtyCandidate geneLimb Deformities CongenitalTracheoesophageal fistulaSingle-nucleotide polymorphismContext (language use)Chromosome DisordersEphrin-B2BiologyGastroenterologyAnus ImperforateMiceEsophagusInternal medicineGeneticsmedicineAnimalsHumansIn patientGenetics (clinical)Mice KnockoutChromosomes Human Pair 13Infant NewbornChromosomeAnatomymedicine.diseaseAnorectal MalformationsSpineTracheaDisease Models AnimalRadiusHuman Reproduction Renal disorder [NCEBP 12]Evaluation of complex medical interventions [NCEBP 2]AtresiaChild PreschoolMutationMutation testingFemaleChromosome DeletionGenetics and epigenetic pathways of disease Genomic disorders and inherited multi-system disorders [NCMLS 6]American Journal of Medical Genetics. Part A
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Interaction of wild-type and naturally occurring deleted variants of hepatitis B virus core polypeptides leads to formation of mosaic particles

2000

AbstractThe simultaneous presence of hepatitis B virus (HBV) genomes carrying wild-type (wt) and in-frame deleted variants of the HBV core gene has been identified as a typical feature of HBV-infected renal transplant patients with severe liver disease. To investigate possible interactions of wt and deleted core polypeptides a two-vector Escherichia coli expression system ensuring their concomitant synthesis has been developed. Co-expression of wt and a mutant core lacking 17 amino acid residues (77–93) within the immunodominant region led to the formation of mosaic particles, whereas the mutant alone was incapable of self-assembly.

Hepatitis B virusBlotting WesternMutantBiophysicsBiologymedicine.disease_causeBiochemistryGenomeHepatitis B virus PRE betaLiver diseaseStructural BiologyEscherichia coliGeneticsmedicineProtein Structure QuaternaryMolecular BiologyEscherichia coliSequence DeletionHepatitis B virusImmunodominant EpitopesHepatitis B virus coreViral Core ProteinsVirus AssemblyWild typeGenetic VariationCell Biologymedicine.diseaseDimer formationHepatitis B Core AntigensPrecipitin TestsVirologyMolecular biologyRecombinant ProteinsMosaic particleMicroscopy ElectronPeptidesDimerizationC gene deletionProtein BindingFEBS Letters
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Deletions in the hepatitis B virus small envelope protein: effect on assembly and secretion of surface antigen particles

1992

The small envelope S protein of hepatitis B virus carrying the surface antigen has the unique property of mobilizing cellular lipids into empty envelope particles which are secreted from mammalian cells. We studied the biogenesis of such particles using site-directed mutagenesis. In this study, we describe the effect of deletions in the N-terminal hydrophobic and hydrophilic domains of the S protein. Whereas short overlapping deletions of hydrophilic sequences flanking the first hydrophobic domain were tolerated, larger deletions of the same sequences were not. Conversely, the hydrophilic region preceding the second hydrophobic domain was not permissive for even short deletions. Deletion of…

Hepatitis B virusMolecular Sequence DataImmunologyMutantMutagenesis (molecular biology technique)Biologymedicine.disease_causeMicrobiologyViral Envelope ProteinsViral envelopeVirologymedicineInterleukin 9SecretionCloning MolecularCells CulturedSecretory pathwayMutationHepatitis B Surface AntigensBase SequenceTunicamycinEndoplasmic reticulumPrecipitin TestsMolecular biologyInsect ScienceMutagenesis Site-DirectedChromosome DeletionPlasmidsResearch ArticleJournal of Virology
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Mosaic particles formed by wild-type hepatitis B virus core protein and its deletion variants consist of both homo- and heterodimers.

2003

AbstractCo-expression in Escherichia coli of wild-type (wt) hepatitis B virus core protein (HBc) and its naturally occurring variants with deletions at amino acid positions 77–93 or 86–93 leads to formation of mosaic particles, which consist of three dimer subunit compositions. These compositions are wt/variant HBc heterodimers and two types of homodimers, formed by wt HBc or the variant HBc themselves. Mosaic particles were found also when both HBc deletion variants 77–93 and 86–93 were co-expressed in E. coli. These findings are discussed in terms of their significance for hepatitis B virus pathogenesis and prospective use of mosaic particles in vaccine development.

Hepatitis B virusvirusesProtein subunitDimerBiophysicsExpressionPlasma protein bindingBiologymedicine.disease_causeMosaic particlesBiochemistrychemistry.chemical_compoundHepatitis B virus core proteinProtein structureStructural Biologyparasitic diseasesGeneticsmedicineHepatitis B VaccinesCloning MolecularProtein Structure QuaternaryMolecular BiologyEscherichia coliSequence Deletionchemistry.chemical_classificationHepatitis B virusViral Core ProteinsWild typevirus diseasesGenetic VariationCell BiologyHepatitis BDimer formationVirologyMolecular biologydigestive system diseasesAmino acidProtein SubunitschemistryDimerizationProtein BindingFEBS letters
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Ancient Haplotypes at the 15q24.2 Microdeletion Region Are Linked to Brain Expression of MAN2C1 and Children's Intelligence

2016

The chromosome bands 15q24.1-15q24.3 contain a complex region with numerous segmental duplications that predispose to regional microduplications and microdeletions, both of which have been linked to intellectual disability, speech delay and autistic features. The region may also harbour common inversion polymorphisms whose functional and phenotypic manifestations are unknown. Using single nucleotide polymorphism (SNP) data, we detected four large contiguous haplotype-genotypes at 15q24 with Mendelian inheritance in 2,562 trios, African origin, high population stratification and reduced recombination rates. Although the haplotype-genotypes have been most likely generated by decreased or abse…

HeredityAutism Spectrum DisorderIntelligenceSocial SciencesChromosome DisordersMAN2C1 geneFamiliesMicePsychologylcsh:ScienceChildChildrenIn Situ HybridizationCognitive ImpairmentIntelligence Testseducation.field_of_studyIntelligence quotientBrainGenomicsNeurologyChromosome DeletionHumanGenotypeEvolutionSingle-nucleotide polymorphismFluorescenceEvolution Molecular03 medical and health sciencesalpha-MannosidaseIntellectual DisabilityMannosidasesGeneticsChromosome 15q24 2HumansPolymorphismeducationChromosome Aberrationslcsh:RHaplotypePair 15PongoBiology and Life SciencesComputational BiologyMolecularmedicine.diseaseIntellectual Disability/genetics030104 developmental biologyNeurodevelopmental DisordersDevelopmental PsychologyAfricalcsh:QPopulation GroupingsGene expressionEthiopiaAutismePopulation GeneticsNeuroscience0301 basic medicineAutismlcsh:MedicineGene ExpressionHomozygosityGeographical LocationsCohort StudiesChromosome Disorders/geneticsIntellectual disabilityMedicine and Health SciencesIn Situ Hybridization FluorescenceSegmental duplicationMannosidases/geneticsGeneticsMultidisciplinaryGenomeCognitive NeurologyHomozygoteSingle NucleotidePhenotypesymbolsInfantsResearch ArticleCognitive NeurosciencePopulationInfants -- DesenvolupamentBiologyPolymorphism Single NucleotideChromosomessymbols.namesakeDevelopmental NeurosciencemedicineAnimalsBrain/metabolismCromosomes humans -- AnomaliesAlleleChromosomes Human Pair 15Evolutionary BiologyPopulation BiologyGenome HumanChromosome 15qIntelligence/geneticsGenome AnalysisGenomic LibrariesExpressió gènicaMacaca mulattaRatsHaplotypesAge GroupsPeople and PlacesMendelian inheritanceCognitive Science
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