Search results for "Sequence analysis"

showing 10 items of 1349 documents

Epigenetic biomarkers: A new perspective in laboratory diagnostics.

2012

Epigenetics comprises the study of chemical modifications in the DNA and histones that regulates the gene expression or cellular phenotype. However, during the last decade this term has evolved after the elucidation of different mechanisms (microRNAs and nuclear organization of the chromosomes) involved in regulating gene expression. Epigenetics and the new designed technologies capable to analyze epigenetic changes (e.g., methylated DNA, miRNAs expression, post-translational modifications on histones among others) have disclosed an appealing scenario that will offer for the biomedical sciences new biomarkers for the study of neurodegenerative diseases, multifactorial complex diseases, rare…

EpigenomicsClinical BiochemistryBiologyBiochemistryEpigenesis GeneticHistonesmicroRNACancer; DNA methylation; Histone; MiRNAs; Rare disease;HumansEpigeneticsPathology MolecularEpigenesisEpigenomicsCancerGeneticsEpigenetic biomarkersBiochemistry (medical)Nuclear organizationGeneral MedicineSequence Analysis DNADNA MethylationHistoneMicroRNAsHistoneDNA methylationbiology.proteinMiRNAsRare diseaseProtein Processing Post-TranslationalBiomarkersClinica chimica acta; international journal of clinical chemistry
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Genome-wide promoter methylation analysis in neuroblastoma identifies prognostic methylation biomarkers.

2012

Background: Accurate outcome prediction in neuroblastoma, which is necessary to enable the optimal choice of risk-related therapy, remains a challenge. To improve neuroblastoma patient stratification, this study aimed to identify prognostic tumor DNA methylation biomarkers.Results: To identify genes silenced by promoter methylation, we first applied two independent genome-wide methylation screening methodologies to eight neuroblastoma cell lines. Specifically, we used re-expression profiling upon 5-aza-2'-deoxycytidine (DAC) treatment and massively parallel sequencing after capturing with a methyl-CpG-binding domain (MBD-seq). Putative methylation markers were selected from DAC-upregulated …

EpigenomicsMYCN Single CopyMedizinPrimary Neuroblastoma TumorBioinformaticsNeuroblastoma0302 clinical medicineRisk FactorsMYCN StatusDatabases GeneticPromoter MethylationGTP-Binding Protein alpha Subunits GsHazard Ratio PatientPromoter Regions GeneticEpigenomicsRegulation of gene expression0303 health sciencesMassive parallel sequencingHigh-Throughput Nucleotide SequencingMethylation3. Good healthGene Expression Regulation NeoplasticMedizinische Fakultät » Universitätsklinikum Essen » Zentrum für Kinder- und Jugendmedizin030220 oncology & carcinogenesisDNA methylationAzacitidineBiologieBiologyDecitabine03 medical and health sciencesneuroblastomaCell Line TumorNeuroblastomaBiomarkers TumorChromograninsmedicineHumansddc:61ddc:610Epigenetics030304 developmental biologyepigeneticsGenome HumanResearchBiology and Life SciencesbiomarkersSequence Analysis DNADNA MethylationHCT116 Cellsmedicine.diseaseSurvival AnalysisCancer researchHuman genomeDNA-methylation
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Epigenomic k-mer dictionaries: shedding light on how sequence composition influences in vivo nucleosome positioning

2014

Abstract Motivation: Information-theoretic and compositional analysis of biological sequences, in terms of k-mer dictionaries, has a well established role in genomic and proteomic studies. Much less so in epigenomics, although the role of k-mers in chromatin organization and nucleosome positioning is particularly relevant. Fundamental questions concerning the informational content and compositional structure of nucleosome favouring and disfavoring sequences with respect to their basic building blocks still remain open. Results: We present the first analysis on the role of k-mers in the composition of nucleosome enriched and depleted genomic regions (NER and NDR for short) that is: (i) exhau…

EpigenomicsStatistics and ProbabilityGeneticsSupplementary dataSequenceGenomeSettore INF/01 - InformaticaSequence Analysis DNAComputational biologyAlgorithms and Data Structures BioinformaticsBiologyChromatin Assembly and DisassemblyBiochemistryNucleosomesComputer Science ApplicationsComputational MathematicsComputational Theory and Mathematicsk-merAnimalsHumansNucleosomeMolecular BiologyComposition (language)Epigenomics
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Applications of alignment-free methods in epigenomics

2013

Epigenetic mechanisms play an important role in the regulation of cell type-specific gene activities, yet how epigenetic patterns are established and maintained remains poorly understood. Recent studies have supported a role of DNA sequences in recruitment of epigenetic regulators. Alignment-free methods have been applied to identify distinct sequence features that are associated with epigenetic patterns and to predict epigenomic profiles. Here, we review recent advances in such applications, including the methods to map DNA sequence to feature space, sequence comparison and prediction models. Computational studies using these methods have provided important insights into the epigenetic reg…

EpigenomicsSupport Vector MachineDNA sequenceSequence alignmentComputational biologyBiologyDNA sequencingEpigenesis GeneticArtificial IntelligenceSequence comparisonHumansNucleosomeEpigeneticsMolecular BiologyGeneEpigenomicsSequence (medicine)GeneticsModels GeneticSettore INF/01 - InformaticanucleosomeChromosome MappingComputational BiologySequence Analysis DNAmachine learningPapersSequence Alignmentepigeneticalignment-free methodInformation SystemsBriefings in Bioinformatics
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Assessment of computational methods for the analysis of single-cell ATAC-seq data

2019

Abstract Background Recent innovations in single-cell Assay for Transposase Accessible Chromatin using sequencing (scATAC-seq) enable profiling of the epigenetic landscape of thousands of individual cells. scATAC-seq data analysis presents unique methodological challenges. scATAC-seq experiments sample DNA, which, due to low copy numbers (diploid in humans), lead to inherent data sparsity (1–10% of peaks detected per cell) compared to transcriptomic (scRNA-seq) data (10–45% of expressed genes detected per cell). Such challenges in data generation emphasize the need for informative features to assess cell heterogeneity at the chromatin level. Results We present a benchmarking framework that …

Epigenomicslcsh:QH426-470Test data generationComputer scienceCellATAC-seqComputational biologyBiologyClusteringTranscriptomeMice03 medical and health scienceschemistry.chemical_compound0302 clinical medicinemedicineAnimalsHumansProfiling (information science)scATAC-seqnatural sciencesEpigeneticsFeature matrixCluster analysislcsh:QH301-705.5GeneTransposaseVisualization030304 developmental biologySparse matrix0303 health sciencesFeaturizationDimensionality reductionResearchComputational BiologySequence Analysis DNADimensionality reductionChromatinBenchmarkinglcsh:Geneticsmedicine.anatomical_structurelcsh:Biology (General)chemistryRegulatory genomicsSingle-Cell AnalysisPeak calling030217 neurology & neurosurgeryDNA
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Expression of Active Streptolysin O in Escherichia coli as a Maltose-Binding-Protein-Streptolysin-O Fusion Protein. The N-Terminal 70 Amino Acids are…

1996

Streptolysin 0 (SLO) is the prototype of a family of cytolysins that consists of proteins which bind to cholesterol and form very large transmembrane pores. Structure/function studies on the pore-forming cytolysin SLO have been complicated by the proteolytic inactivation of a substantial portion of recombinant SLO (rSLO) expressed in Escherichia coli. To overcome this problem, translational fusions between the E. coli maltose-binding protein (MBP) gene and SLO were constructed, using the vectors pMAL-p2 and pMAL-c2. MBP-SLO fusion proteins were degraded if secreted into the E. coli periplasm, but intact, soluble MBP-SLO fusion proteins were produced at high levels in the cytoplasm. Active S…

ErythrocytesMonosaccharide Transport Proteinsgenetic structuresProtein ConformationStreptococcus pyogenesRecombinant Fusion ProteinsMolecular Sequence Datamedicine.disease_causeHemolysisBiochemistryMaltose-Binding ProteinsStructure-Activity RelationshipMaltose-binding proteinProtein structureBacterial ProteinsEscherichia colimedicineHumansCloning MolecularEscherichia coliSequence DeletionPore-forming toxinBase SequencebiologyEscherichia coli ProteinsFluoresceinsFusion proteineye diseasesTransmembrane proteinBiochemistryLiposomesStreptolysinsbiology.proteinATP-Binding Cassette TransportersStreptolysinsense organsCytolysinCarrier ProteinsSequence AnalysisEuropean Journal of Biochemistry
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Photobacterium damselae subsp. damselae Major Virulence Factors Dly, Plasmid-Encoded HlyA, and Chromosome-Encoded HlyA Are Secreted via the Type II S…

2015

ABSTRACT Photobacterium damselae subsp. damselae is a marine bacterium that causes septicemia in marine animals and in humans. Previously, we had determined a major role of pPHDD1 plasmid-encoded Dly (damselysin) and HlyA (HlyA pl ) and the chromosome-encoded HlyA (HlyA ch ) hemolysins in virulence. However, the mechanisms by which these toxins are secreted remain unknown. In this study, we found that a mini-Tn 10 transposon mutant in a plasmidless strain showing an impaired hemolytic phenotype contained an insertion in epsL , a component of a type II secretion system (T2SS). Reconstruction of the mutant by allelic exchange confirmed the specific involvement of epsL in HlyA ch secretion. In…

ErythrocytesTranscription GeneticVirulence FactorsImmunologyMutantVirulenceTransposasesBiologyGene MutantHemolysin ProteinsMicrobiologyHemolysisMicrobiologyHemolysin ProteinsMiceBacterial ProteinsEndopeptidasesAnimalsSecretionBacterial Secretion SystemsMice Inbred BALB CType II secretion systemBase SequencePhotobacteriumHemolysinBacterial InfectionsSequence Analysis DNAInfectious DiseasesPhotobacterium damselaeMutationParasitologyPlasmids
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Temporal relationship between genetic and warning signal variation in the aposematic wood tiger moth (Parasemia plantaginis).

2013

Many plants and animals advertise unpalatability through warning signals in the form of colour and shape. Variation in warning signals within local populations is not expected because they are subject to directional selection. However, mounting evidence of warning signal variation within local populations suggests that other selective forces may be acting. Moreover, different selective pressures may act on the individual components of a warning signal. At present, we have a limited understanding about how multiple selection processes operate simultaneously on warning signal components, and even less about their temporal and spatial dynamics. Here, we examined temporal variation of several w…

EstoniaGenetic MarkersMaleAposematismMothsSignalDNA MitochondrialSpatio-Temporal AnalysisGene FrequencyParasemia plantaginisGeneticsAnimalsWings AnimalSelection GeneticEcology Evolution Behavior and SystematicsSelection (genetic algorithm)FinlandCell NucleusWingbiologyDirectional selectionEcologyPigmentationGenetic VariationSequence Analysis DNAbiology.organism_classificationVariation (linguistics)Genetics PopulationPhenotypeEvolutionary biologyGenetic structureta1181Microsatellite RepeatsMolecular ecology
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Back to Gondwanaland: can ancient vicariance explain (some) Indian Ocean disjunct plant distributions?

2015

Oceans, or other wide expanses of inhospitable environment, interrupt present day distributions of many plant groups. Using molecular dating techniques, generally incorporating fossil evidence, we can estimate when such distributions originated. Numerous dating analyses have recently precipitated a paradigm shift in the general explanations for the phenomenon, away from older geological causes, such as continental drift, in favour of more recent, long-distance dispersal (LDD). For example, the ‘Gondwanan vicariance’ scenario has been dismissed in various studies of Indian Ocean disjunct distributions. We used the gentian tribe Exaceae to reassess this scenario using molecular dating with mi…

Evolutionary BiologybiologyPlant DispersalMolecular Sequence DataSequence Analysis DNAGentianaceaePresent dayDisjunctbiology.organism_classificationAgricultural and Biological Sciences (miscellaneous)Evolution MolecularPaleontologyContinental driftVicarianceTribeBiological dispersalGeneral Agricultural and Biological SciencesPlant DispersalEvolution PlanetaryIndian OceanPhylogenyGentianalesPlant ProteinsBiology Letters
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Phylogeography of a Habitat Specialist with High Dispersal Capability: The Savi’s Warbler Locustella luscinioides

2012

In order to describe the influence of Pleistocene glaciations on the genetic structure and demography of a highly mobile, but specialized, passerine, the Savi's Warbler (Locustella luscinioides), mitochondrial DNA sequences (ND2) and microsatellites were analysed in c.330 individuals of 17 breeding and two wintering populations. Phylogenetic, population genetics and coalescent methods were used to describe the genetic structure, determine the timing of the major splits and model the demography of populations. Savi's Warblers split from its sister species c.8 million years ago and have two major haplotype groups that diverged in the early/middle Pleistocene. One of these clades originated in…

Evolutionary Genetics0106 biological sciencesAnimal EvolutionPopulation Dynamicslcsh:MedicinePopulation genetics01 natural sciencesCoalescent theoryWarblerSongbirdslcsh:ScienceGenome EvolutionPhylogenyLikelihood FunctionsPrincipal Component Analysis0303 health scienceseducation.field_of_studyMultidisciplinarybiologyGenomicsEuropePhylogeographyGenetic structureResearch ArticleGene FlowMolecular Sequence DataPopulationDNA Mitochondrial010603 evolutionary biology03 medical and health sciencesAnimalsEvolutionary SystematicseducationBiologyEcosystemDemography030304 developmental biologyAnalysis of VarianceEvolutionary BiologyBase SequenceModels Geneticlcsh:RComputational BiologyLocustella luscinioidesBayes TheoremSequence Analysis DNAbiology.organism_classificationOrganismal EvolutionPhylogeographyGenetics PopulationHaplotypesEvolutionary biologyBiological dispersallcsh:QAnimal MigrationGenome Expression AnalysisPopulation GeneticsMicrosatellite RepeatsPLoS ONE
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