Search results for " sequence"

showing 10 items of 3643 documents

Whole-genome sequencing of Neisseria gonorrhoeae in a forensic transmission case.

2019

Abstract Molecular epidemiology and phylogenetic analyses are frequently used in the investigation of viral transmission cases in forensic contexts. Here, we present the methods and results of the analysis of a bacterial transmission episode in an alleged child abuse case using complete genome sequences obtained by high-throughput sequencing (HTS) methods. We obtained genomes of Neisseria gonorrhoeae from the victim, the suspect, and 29 unrelated controls. The analysis of the genomes revealed that the victim and suspect isolates had identical sequences in both the bacterial chromosome and the single plasmid present in them. One of the local controls was very similar (differing in only 2 SNP…

0301 basic medicineChild abuseMaleBacterial genome sizeBiologyGenomePolymerase Chain ReactionPolymorphism Single NucleotideDNA sequencingPathology and Forensic Medicine03 medical and health sciencesGonorrhea0302 clinical medicineGeneticsHumans030216 legal & forensic medicineTypingChildGeneticsWhole genome sequencingLikelihood FunctionsMolecular epidemiologyWhole Genome SequencingHigh-Throughput Nucleotide SequencingChild Abuse SexualSequence Analysis DNANeisseria gonorrhoeaeElectrophoresis Gel Pulsed-Field030104 developmental biologyVaginaMultilocus sequence typingFemaleMultilocus Sequence TypingForensic science international. Genetics
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IL‐10‐producing B cells are characterized by a specific methylation signature

2019

Among the family of regulatory B cells, the subset able to produce interleukin-10 (IL-10) is the most studied, yet its biology is still a matter of investigation. The DNA methylation profiling of the il-10 gene locus revealed a novel epigenetic signature characterizing murine B cells ready to respond through IL-10 synthesis: a demethylated region located 4.5 kb from the transcription starting site (TSS), that we named early IL10 regulatory region (eIL10rr). This feature allows to distinguish B cells that are immediately prone and developmentally committed to IL-10 production from those that require a persistent stimulation to exert an IL-10-mediated regulatory function. These late IL-10 pro…

0301 basic medicineChronic lymphocytic leukemiaRegulatory B cellsImmunologyB-Lymphocyte SubsetsLymphoma Mantle-CellRegulatory Sequences Nucleic AcidBiologyLymphocyte ActivationB-cell malignanciesMice03 medical and health scienceschemistry.chemical_compoundInterleukin 100302 clinical medicineTranscription (biology)Immune ToleranceTumor MicroenvironmentmedicineAnimalsHumansImmunology and AllergyB cells; B-cell malignancies; DNA methylation; epigenetics; Interleukin 10; Immunology and Allergy; ImmunologyEpigeneticsB-Lymphocytes RegulatoryB cellsB cellDNA methylationepigeneticsGene Expression ProfilingB cells; B-cell malignancies; DNA methylation; epigenetics; Interleukin 10Cell DifferentiationMethylationmedicine.diseaseLeukemia Lymphocytic Chronic B-CellImmunity HumoralInterleukin-10Cell biologyMice Inbred C57BLInterleukin 10030104 developmental biologychemistryDNA methylationB-cell malignancieFemaleepigeneticDNA030215 immunologyEuropean Journal of Immunology
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Evolution of Ciona intestinalis Tumor necrosis factor alpha ( Ci TNFα): Polymorphism, tissues expression, and 3D modeling

2017

Although the Tumor necrosis factor gene superfamily seems to be very conserved in vertebrates, phylogeny, tissue expression, genomic and gene organization, protein domains and polymorphism analyses showed that a strong change has happened mostly in invertebrates in which protochordates were a constraint during the immune-molecules history and evolution. RT PCR was used to investigate differential gene expression in different tissues. The expression shown was greater in the pharynx. Single-nucleotide polymorphism has been investigated in Ciona intestinalis Tumor necrosis factor alpha (CiTNFα) mRNA isolated from the pharynx of 30 ascidians collected from Licata, Sicily (Italy), by denaturing …

0301 basic medicineCiona intestinaliIn silicoImmunologyProtein domainTNFSettore BIO/05 - ZoologiaPolymorphism Single NucleotideCiona intestinalis; DGGE; Gene expression; Polymorphism; TNF03 medical and health sciencesNegative selection0302 clinical medicineGene expressionAnimalsComputer SimulationCiona intestinalisRNA MessengerCloning MolecularSelection GeneticDGGEPolymorphismGeneCells CulturedPhylogenyGeneticsGenomebiologyTumor Necrosis Factor-alphaGene Expression ProfilingNucleic acid sequencebiology.organism_classificationBiological EvolutionMolecular biologyCiona intestinalis030104 developmental biologyPharynxGene expressionSequence Alignment030217 neurology & neurosurgeryTemperature gradient gel electrophoresisDevelopmental BiologyDevelopmental & Comparative Immunology
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Efficient Algorithms for Sequence Analysis with Entropic Profiles

2017

Entropy, being closely related to repetitiveness and compressibility, is a widely used information-related measure to assess the degree of predictability of a sequence. Entropic profiles are based on information theory principles, and can be used to study the under-/over-representation of subwords, by also providing information about the scale of conserved DNA regions. Here, we focus on the algorithmic aspects related to entropic profiles. In particular, we propose linear time algorithms for their computation that rely on suffix-based data structures, more specifically on the truncated suffix tree (TST) and on the enhanced suffix array (ESA). We performed an extensive experimental campaign …

0301 basic medicineCompressed suffix arrayTheoretical computer scienceEntropySuffix tree0206 medical engineeringGeneralized suffix tree02 engineering and technologyString searching algorithmInformation theorylaw.invention03 medical and health scienceslawGeneticsAnimalsHumansMathematicsApplied MathematicsSuffix arrayComputational BiologyDNASequence Analysis DNAData structure030104 developmental biologySuffixAlignment free Entropy Sequence analysis Sequence comparisonAlgorithms020602 bioinformaticsBiotechnologyIEEE/ACM Transactions on Computational Biology and Bioinformatics
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Deep learning architectures for prediction of nucleosome positioning from sequences data

2018

Abstract Background Nucleosomes are DNA-histone complex, each wrapping about 150 pairs of double-stranded DNA. Their function is fundamental for one of the primary functions of Chromatin i.e. packing the DNA into the nucleus of the Eukaryote cells. Several biological studies have shown that the nucleosome positioning influences the regulation of cell type-specific gene activities. Moreover, computational studies have shown evidence of sequence specificity concerning the DNA fragment wrapped into nucleosomes, clearly underlined by the organization of particular DNA substrings. As the main consequence, the identification of nucleosomes on a genomic scale has been successfully performed by com…

0301 basic medicineComputer scienceCellBiochemistrychemistry.chemical_compound0302 clinical medicineStructural Biologylcsh:QH301-705.5Nucleosome classificationSequenceSettore INF/01 - InformaticabiologyApplied MathematicsEpigeneticComputer Science ApplicationsChromatinNucleosomesmedicine.anatomical_structurelcsh:R858-859.7EukaryoteDNA microarrayDatabases Nucleic AcidComputational biologySaccharomyces cerevisiaelcsh:Computer applications to medicine. Medical informatics03 medical and health sciencesDeep LearningmedicineNucleosomeAnimalsHumansEpigeneticsMolecular BiologyGeneBase Sequencebusiness.industryDeep learningResearchReproducibility of Resultsbiology.organism_classificationYeastNucleosome classification Epigenetic Deep learning networks Recurrent neural networks030104 developmental biologylcsh:Biology (General)chemistryRecurrent neural networksROC CurveDeep learning networksArtificial intelligenceNeural Networks Computerbusiness030217 neurology & neurosurgeryDNABMC Bioinformatics
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Transcriptome Analysis of PA Gain and Loss of Function Mutants

2017

Functional genomics has become a forefront methodology for plant science thanks to the widespread development of microarray technology. While technical difficulties associated with the process of obtaining raw expression data have been diminishing, allowing the appearance of tremendous amounts of transcriptome data in different databases, a common problem using "omic" technologies remains: the interpretation of these data and the inference of its biological meaning. In order to assist to this complex task, a wide variety of software tools have been developed. In this chapter we describe our current workflow of the application of some of these analyses. We have used it to compare the transcr…

0301 basic medicineComputer scienceMicroarray analysis techniquesProcess (engineering)MutantComputational biologyOmicsTranscriptomeGene expression profiling03 medical and health sciences030104 developmental biologyMolecular Sequence AnnotationGene chip analysisFunctional genomicsLoss function
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Yeast trehalases: Two enzymes, one catalytic mission

2016

Abstract Background Trehalose is a non-reducing disaccharide highly conserved throughout evolution. In yeasts, trehalose hydrolysis is confined to the enzyme trehalase, an α-glucosidase specific for trehalose as sole substrate. Two kinds of trehalase activity exist in yeasts: neutral and acid enzymes. Scope of the review This review makes a comparative survey of the main biochemical and genetic parameters, regulatory systems, tridimensional structure and catalytic mechanism of the two yeast trehalases. Major conclusions The yeast neutral and acid trehalases display sharp differences in biochemical features (optimum pH, Mr or amino acid sequence) physiological roles, subcellular location (cy…

0301 basic medicineCytoplasm030106 microbiologyBiophysicsCatabolite repressionTrehalase activitySaccharomyces cerevisiaeBiologyBiochemistryCatalysis03 medical and health scienceschemistry.chemical_compoundCell WallTrehalaseTrehalaseMolecular BiologyPeptide sequencechemistry.chemical_classificationHydrolysisTrehaloseTrehaloseYeastCytosol030104 developmental biologyEnzymechemistryBiochemistryBiochimica et Biophysica Acta (BBA) - General Subjects
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Easy One-Step Amplification and Labeling Procedure for Copy Number Variation Detection.

2019

Abstract Background The specific characteristics of copy number variations (CNVs) require specific methods of detection and characterization. We developed the Easy One-Step Amplification and Labeling procedure for CNV detection (EOSAL-CNV), a new method based on proportional amplification and labeling of amplicons in 1 PCR. Methods We used tailed primers for specific amplification and a pair of labeling probes (only 1 labeled) for amplification and labeling of all amplicons in just 1 reaction. Products were loaded directly onto a capillary DNA sequencer for fragment sizing and quantification. Data obtained could be analyzed by Microsoft Excel spreadsheet or EOSAL-CNV analysis software. We d…

0301 basic medicineDNA Copy Number VariationsClinical BiochemistryComputational biologyPolymerase Chain Reaction03 medical and health sciences0302 clinical medicineHumansMultiplexMultiplex ligation-dependent probe amplificationCopy-number variationIn Situ Hybridization FluorescenceFluorescent DyesChemistryBiochemistry (medical)Sequence Analysis DNAAmpliconChromosome 17 (human)MSH6DNA sequencer030104 developmental biologyReceptors LDLMSH2030220 oncology & carcinogenesisDNA ProbesMultiplex Polymerase Chain ReactionClinical chemistry
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Photobacterium toruni sp. nov., a bacterium isolated from diseased farmed fish.

2017

Three bacterial strains were isolated from liver and spleen of diseased farmed redbanded seabream (Pagrus auriga) in south-west Spain. Their partial 16S rRNA gene sequences clustered within those of the genus Photobacterium , showing high similarity (98.6–99.3 %) to the type strains of Photobacterium iliopiscarium , P. piscicola , P. kishitanii , P. aquimaris and P. phosphoreum . Multilocus sequence analysis using six housekeeping genes (gapA, topA, mreB, ftsZ, gyrB and 16S rRNA) confirmed the new strains as forming an independent branch with a bootstrap value of 100, likely to represent a novel species. To confirm this, we used whole genome sequencing and genomic analysis (ANIb, ANIm and i…

0301 basic medicineDNA BacterialBacilliSequence analysisMicrobiologyMicrobiology03 medical and health sciencesVibrionaceaeRNA Ribosomal 16SAnimalsGeneEcology Evolution Behavior and SystematicsPhospholipidsPhylogenyWhole genome sequencingGeneticsBase CompositionbiologyPhotobacteriumFatty AcidsNucleic Acid HybridizationVitamin K 2General MedicineSequence Analysis DNA16S ribosomal RNAbiology.organism_classificationPhotobacteriumSea BreamHousekeeping geneBacterial Typing Techniques030104 developmental biologyGenes BacterialSpainMultilocus Sequence TypingInternational journal of systematic and evolutionary microbiology
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Marinomonas spartinae sp. nov., a novel species with plant-beneficial properties.

2016

Two strains of Gram-stain-negative, chemo-organotrophic, aerobic and halophilic gammaproteobacteria, isolated from within the stem and roots of Spartina maritima in salt marshes from the south Atlantic Spanish coast, were found to represent a novel species in the genus Marinomonas through phylogenetic analysis of their 16S rRNA genes and phenotypic characterization. 16S rRNA gene sequences of the two strains shared < 96.2 % similarity with other Marinomonas species, with Marimonas alcarazii being the most similar in sequence. They required sodium ions for growth, were able to thrive at low (4 °C) temperatures and at salinities of 12–15 %, were unable to hydrolyse any tested macromolecule ex…

0301 basic medicineDNA BacterialMarinomonasMolecular Sequence DataBiologyPoaceaeMicrobiologyPlant Roots03 medical and health sciencesRNA Ribosomal 16SGammaproteobacteriaBotanyEndophytesSugarMarinomonasEcology Evolution Behavior and SystematicsPhylogenychemistry.chemical_classificationBase CompositionPhylogenetic treePlant StemsFatty AcidsNucleic Acid HybridizationGeneral MedicineSequence Analysis DNA16S ribosomal RNAbiology.organism_classificationHalophileAmino acidBacterial Typing Techniques030104 developmental biologychemistrySpainWetlandslipids (amino acids peptides and proteins)Spartina maritimaInternational journal of systematic and evolutionary microbiology
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