Search results for "sequence"

showing 10 items of 4987 documents

Retene causes multifunctional transcriptomic changes in the heart of rainbow trout (Oncorhynchus mykiss) embryos

2015

Fish are particularly sensitive to aryl hydrocarbon receptor (AhR)-mediated developmental toxicity. The molecular mechanisms behind these adverse effects have remained largely unresolved in salmonids, and for AhR-agonistic polycyclic aromatic hydrocarbons (PAHs). This study explored the cardiac transcriptome of rainbow trout (Oncorhynchus mykiss) eleuteroembryos exposed to retene, an AhR-agonistic PAH. The embryos were exposed to retene (nominal concentration 32 μg/L) and control, their hearts were collected before, at and after the onset of the visible signs of developmental toxicity, and transcriptomic changes were studied by microarray analysis. Retene up- or down-regulated 122 genes. Th…

0301 basic medicineEmbryo Nonmammaliananimal structuresHealth Toxicology and Mutagenesista1172Developmental toxicityProtein metabolismdioxin-like toxicityEmbryonic Development010501 environmental sciencesToxicologyBioinformatics01 natural sciencesTranscriptome03 medical and health scienceschemistry.chemical_compoundfish embryotranscriptomicsAnimalsOligonucleotide Array Sequence Analysis0105 earth and related environmental sciencesPharmacologyRetenebiologyGene Expression Profilingta1184ta1182Gene Expression Regulation DevelopmentalHeartLipid metabolismGeneral MedicinePhenanthrenesAryl hydrocarbon receptorCell biology030104 developmental biologychemistryOncorhynchus mykissbiology.proteinta1181Rainbow troutSignal transduction
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An Intronic cis-Regulatory Element Is Crucial for the Alpha Tubulin Pl-Tuba1a Gene Activation in the Ciliary Band and Animal Pole Neurogenic Domains …

2017

In sea urchin development, structures derived from neurogenic territory control the swimming and feeding responses of the pluteus as well as the process of metamorphosis. We have previously isolated an alpha tubulin family member of Paracentrotus lividus (Pl-Tuba1a, formerly known as Pl-Talpha2) that is specifically expressed in the ciliary band and animal pole neurogenic domains of the sea urchin embryo. In order to identify cis-regulatory elements controlling its spatio-temporal expression, we conducted gene transfer experiments, transgene deletions and site specific mutagenesis. Thus, a genomic region of about 2.6 Kb of Pl-Tuba1a, containing four Interspecifically Conserved Regions (ICRs…

0301 basic medicineEmbryologyPolarity in embryogenesislcsh:MedicineGene ExpressionMedicine (all); Biochemistry Genetics and Molecular Biology (all); Agricultural and Biological Sciences (all)medicine.disease_causeBiochemistryTubulinGene expressionElectron MicroscopyTransgeneslcsh:SciencePromoter Regions GeneticSea urchinConserved SequenceSequence DeletionGeneticsRegulation of gene expressionMicroscopyMutationMultidisciplinaryMedicine (all)Gene Expression Regulation DevelopmentalGenomicsAnimal ModelsTATA BoxEnzymesEnhancer Elements GeneticExperimental Organism Systemsembryonic structuresParacentrotusTranscription Initiation SiteOxidoreductasesLuciferaseResearch ArticleEchinodermsTranscriptional ActivationImaging TechniquesNeurogenesisGreen Fluorescent ProteinsEmbryonic DevelopmentSettore BIO/11 - Biologia MolecolareBiologyResearch and Analysis MethodsGenome ComplexityParacentrotus lividus03 medical and health sciencesSpecies SpecificityTubulinsbiology.animalFluorescence ImagingGeneticsmedicineConsensus sequenceAnimalsCiliaEnhancerBiochemistry Genetics and Molecular Biology (all)Binding SitesModels Geneticlcsh:REmbryosOrganismsBiology and Life SciencesComputational BiologyProteinsbiology.organism_classificationInvertebratesIntronsCytoskeletal Proteins030104 developmental biologyAgricultural and Biological Sciences (all)Bright Field ImagingSea UrchinsEnzymologyMutagenesis Site-Directedlcsh:QTransmission Electron MicroscopyDevelopmental BiologyTranscription FactorsPLOS ONE
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ATR expands embryonic stem cell fate potential in response to replication stress

2020

Fondazione Italiana per la Ricerca sul Cancro FIRC 18112 Sina Atashpaz.Fondazione Umberto Veronesi Sina Atashpaz Associazione Italiana per la Ricerca sul Cancro AIRC 5xmille METAMECH program Vincenzo Costanzo Giovanni Armenise-Harvard Foundation Vincenzo Costanzo European Research Council Consolidator grant 614541 Vincenzo Costanzo Associazione Italiana per la Ricerca sul Cancro Fellowship 23961 Negar ArghavanifarDanish Cancer Society KBVU-2014 Andres Joaquin Lopez-Contreras Danish Council for Independent Research Sapere Aude, DFF Starting Grant 2014 Andres Joaquin Lopez-Contreras European Research Council ERC-2015-STG-679068 Andres Joaquin Lopez-Contreras Danish National Research Foundatio…

0301 basic medicineEndogenyAtaxia Telangiectasia Mutated ProteinsMice0302 clinical medicineTandem Mass SpectrometryTranscription (biology)GENE ATRcell biologyCloning MolecularBiology (General)Cells Cultured0303 health sciencesGeneral NeuroscienceQRTotipotentCell DifferentiationEmbryoGeneral MedicineCell biologyMedicinebiological phenomena cell phenomena and immunityResearch ArticleQH301-705.5replication stressDNA damageScienceSettore MED/08 - Anatomia PatologicaBiologyGeneral Biochemistry Genetics and Molecular Biology03 medical and health sciencesAnimalsRNA MessengerGeneEmbryonic Stem CellsmouseCell Proliferation030304 developmental biologyMessenger RNAGeneral Immunology and MicrobiologyChimeraSequence Analysis RNAEmbryogenesisTELOMERE ELONGATIONEPIGENETIC RESTRICTIONembryonic stem cellEmbryonic stem cellATR030104 developmental biologyGene Expression RegulationDNA-DAMAGECheckpoint Kinase 1GENOMIC STABILITY030217 neurology & neurosurgeryChromatography LiquidDNA DamageeLife
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Genetic and Epigenetic Characteristics of Inflammatory Bowel Disease-Associated Colorectal Cancer.

2021

doi: 10.1053/j.gastro.2021.04.042 Background & Aims Inflammatory bowel disease (IBD) is a chronic, relapsing inflammatory disorder associated with an elevated risk of colorectal cancer (CRC). IBD-associated CRC (IBD-CRC) may represent a distinct pathway of tumorigenesis compared to sporadic CRC (sCRC). Our aim was to comprehensively characterize IBD-associated tumorigenesis integrating multiple high-throughput approaches, and to compare the results with in-house data sets from sCRCs. Methods Whole-genome sequencing, single nucleotide polymorphism arrays, RNA sequencing, genome-wide methylation analysis, and immunohistochemistry were performed using fresh-frozen and formalin-fixed tissue sam…

0301 basic medicineEpigenomicsMaleColorectal cancerDNA Mutational AnalysisPHENOTYPEmedicine.disease_causeEpigenesis GeneticPATHWAY0302 clinical medicineMUTATIONAL PROCESSESDRIVERSTumor MicroenvironmentFinlandOligonucleotide Array Sequence AnalysisAged 80 and overDNA methylationMETHYLATIONGastroenterologyWnt signaling pathwaytulehdukselliset suolistosairaudetHigh-Throughput Nucleotide SequencingMiddle AgedDNA-metylaatio3. Good healthCell Transformation NeoplasticepigenetiikkaDNA methylationCONSENSUS MOLECULAR SUBTYPES030211 gastroenterology & hepatologyFemaleconsensus molecular subtypeKRASgeneettiset tekijätAdultEpithelial-Mesenchymal TransitionINTESTINAL INFLAMMATIONConsensus Molecular Subtype3122 Cancersepithelial-mesenchymal transitioncolorectal cancersuolistosyövätBiology3121 Internal medicinePolymorphism Single Nucleotide03 medical and health sciencesinflammatory bowel diseaseCOLONAXIN2medicineBiomarkers TumorHumansEpithelial–mesenchymal transitionEpigeneticsneoplasmsSIGNATURESAgedNeoplasm StagingColorectal CancerHepatologyWhole Genome SequencingSequence Analysis RNAGene Expression ProfilingInflammatory Bowel DiseaseDNA Methylationmedicine.diseaseInflammatory Bowel DiseasesEVOLUTIONdigestive system diseases030104 developmental biologyMutationCancer research3111 BiomedicineColitis-Associated NeoplasmsNeoplasm GradingCarcinogenesisTranscriptomeGastroenterology
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Informational and linguistic analysis of large genomic sequence collections via efficient Hadoop cluster algorithms

2018

Abstract Motivation Information theoretic and compositional/linguistic analysis of genomes have a central role in bioinformatics, even more so since the associated methodologies are becoming very valuable also for epigenomic and meta-genomic studies. The kernel of those methods is based on the collection of k-mer statistics, i.e. how many times each k-mer in {A,C,G,T}k occurs in a DNA sequence. Although this problem is computationally very simple and efficiently solvable on a conventional computer, the sheer amount of data available now in applications demands to resort to parallel and distributed computing. Indeed, those type of algorithms have been developed to collect k-mer statistics in…

0301 basic medicineEpigenomicsgenomic analysis; hadoop; distributed computingStatistics and ProbabilityComputer scienceBig dataSequence assemblyGenomeBiochemistryDomain (software engineering)Set (abstract data type)03 medical and health sciencesdistributed computingSoftwareComputational Theory and MathematicAnimalsCluster AnalysisHumansA-DNAk-mer counting distributed computing hadoop map reduceMolecular BiologyEpigenomicsBacteriabusiness.industryk-mer countingEukaryotaLinguisticsComputer Science Applications1707 Computer Vision and Pattern RecognitionGenomicsSequence Analysis DNAComputer Science ApplicationsComputational Mathematics030104 developmental biologymap reduceComputational Theory and MathematicsDistributed algorithmgenomic analysisKernel (statistics)MetagenomehadoopbusinessAlgorithmAlgorithmsSoftware
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Maternal DNA lineages at the gate of Europe in the 10th century AD

2018

Given the paucity of archaeogenetic data available for medieval European populations in comparison to other historical periods, the genetic landscape of this age appears as a puzzle of dispersed, small, known pieces. In particular, Southeastern Europe has been scarcely investigated to date. In this paper, we report the study of mitochondrial DNA in 10th century AD human samples from Capidava necropolis, located in Dobruja (Southeastern Romania, Southeastern Europe). This geographical region is particularly interesting because of the extensive population flux following diverse migration routes, and the complex interactions between distinct population groups during the medieval period. We suc…

0301 basic medicineEuropean PeopleremainsHeredityPopulation geneticslcsh:Medicinepopulation030105 genetics & heredityBiochemistryHaplogroupGeographical Locationscontaminationmitochondrial-dnaEthnicitieslcsh:SciencePhylogenymtDNA control regionPrincipal Component Analysiseducation.field_of_studyMultidisciplinaryGeographyHigh-Throughput Nucleotide SequencingPaleogeneticscontrol regionMitochondrial DNAEuropeNucleic acidsGenetic MappingPhylogeographyGeographyArchaeologyBiogeographyRomanian PeopleGenetic structurehistoryResearch ArticleMitochondrial DNAancient DNA mitochondrial DNA population genetics Romania Capidava medieval necropolisForms of DNAPopulationNear-EasternDNA MitochondrialBone and BonesWhite Peoplediversity03 medical and health sciencesgenetic affinitiesGeneticsHumanseducationEvolutionary BiologyBiology and life sciencesPopulation BiologyRomaniaEcology and Environmental Scienceslcsh:RPaleontologySequence Analysis DNADNAsequenceHistory MedievalPhylogeographyGenetics Population030104 developmental biologyHaplotypesEvolutionary biologyPeople and PlacesEarth SciencesHaplogroupsPopulation Groupingslcsh:QPaleogeneticsPopulation Genetics
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Diversification of spatiotemporal expression and copy number variation of the echinoid hbox12/pmar1/micro1 multigene family

2017

Changes occurring during evolution in the cis-regulatory landscapes of individual members of multigene families might impart diversification in their spatiotemporal expression and function. The archetypal member of the echinoid hbox12/pmar1/micro1 family is hbox12-a, a homeobox-containing gene expressed exclusively by dorsal blastomeres, where it governs the dorsal/ventral gene regulatory network during embryogenesis of the sea urchin Paracentrotus lividus. Here we describe the inventory of the hbox12/pmar1/micro1 genes in P. lividus, highlighting that gene copy number variation occurs across individual sea urchins of the same species. We show that the various hbox12/pmar1/micro1 genes grou…

0301 basic medicineEvolutionary GeneticsEmbryologyGene regulatory networklcsh:MedicineGene ExpressionMedicine (all); Biochemistry Genetics and Molecular Biology (all); Agricultural and Biological Sciences (all)Database and Informatics MethodsGene duplicationGene Regulatory NetworksCopy-number variationlcsh:ScienceSea urchinPhylogenyMultidisciplinarybiologyPhylogenetic treeMedicine (all)Genes HomeoboxGene Expression Regulation DevelopmentalAnimal ModelsGenomicsExperimental Organism SystemsMultigene FamilySequence AnalysisResearch ArticleEchinodermsDNA Copy Number VariationsBioinformaticsDNA transcriptionZoologySettore BIO/11 - Biologia MolecolareResearch and Analysis MethodsParacentrotus lividus03 medical and health sciencesSequence Motif Analysisbiology.animalGeneticsGene familyAnimalsGeneEvolutionary BiologyBiochemistry Genetics and Molecular Biology (all)lcsh:REmbryosOrganismsBiology and Life SciencesComputational Biologybiology.organism_classificationGenome AnalysisGenomic LibrariesInvertebrates030104 developmental biologyAgricultural and Biological Sciences (all)Evolutionary biologySea Urchinslcsh:QSequence AlignmentDevelopmental Biology
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iDamIDseq and iDEAR: an improved method and computational pipeline to profile chromatin-binding proteins

2016

DNA adenine methyltransferase identification (DamID) has emerged as an alternative method to profile protein-DNA interactions; however, critical issues limit its widespread applicability. Here, we present iDamIDseq, a protocol that improves specificity and sensitivity by inverting the steps DpnI-DpnII and adding steps that involve a phosphatase and exonuclease. To determine genome-wide protein-DNA interactions efficiently, we present the analysis tool iDEAR (iDamIDseq Enrichment Analysis with R). The combination of DamID and iDEAR permits the establishment of consistent profiles for transcription factors, even in transient assays, as we exemplify using the small teleost medaka (Oryzias lati…

0301 basic medicineExonucleaseSite-Specific DNA-Methyltransferase (Adenine-Specific)Embryo NonmammalianOryziasOryziasComputational biologyBiology03 medical and health scienceschemistry.chemical_compoundTechniques and ResourcesTranscriptional regulationDatabases GeneticProtein Interaction MappingTranscriptional regulationAnimalsEpigeneticsPromoter Regions GeneticMolecular BiologyTranscription factorGeneticsBinding SitesChromatin bindingComputational BiologyPromoterSequence Analysis DNADNA Methylationbiology.organism_classificationChromatinDNA-Binding Proteins030104 developmental biologychemistryGene Expression Regulation207Chromatin profilingbiology.proteinDamIDEpigeneticsTranscription factorDNAAlgorithmsDevelopmental BiologyProtein BindingTranscription FactorsDevelopment (Cambridge, England)
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FASTdoop: A versatile and efficient library for the input of FASTA and FASTQ files for MapReduce Hadoop bioinformatics applications

2017

Abstract Summary MapReduce Hadoop bioinformatics applications require the availability of special-purpose routines to manage the input of sequence files. Unfortunately, the Hadoop framework does not provide any built-in support for the most popular sequence file formats like FASTA or BAM. Moreover, the development of these routines is not easy, both because of the diversity of these formats and the need for managing efficiently sequence datasets that may count up to billions of characters. We present FASTdoop, a generic Hadoop library for the management of FASTA and FASTQ files. We show that, with respect to analogous input management routines that have appeared in the Literature, it offers…

0301 basic medicineFASTQ formatStatistics and ProbabilityComputer scienceSequence analysismedia_common.quotation_subjectInformation Storage and RetrievalBioinformaticscomputer.software_genreGenomeBiochemistryDomain (software engineering)03 medical and health sciencesComputational Theory and MathematicHumansGenomic libraryQuality (business)DNA sequencingFASTQ; NGS; FASTQ; DNA sequencingMolecular Biologymedia_commonGene LibrarySequenceDatabaseSettore INF/01 - InformaticaGenome HumanComputer Science Applications1707 Computer Vision and Pattern RecognitionGenomicsSequence Analysis DNAFASTQFile formatComputer Science ApplicationsStatistics and Probability; Biochemistry; Molecular Biology; Computer Science Applications1707 Computer Vision and Pattern Recognition; Computational Theory and Mathematics; Computational MathematicsComputational Mathematics030104 developmental biologyComputational Theory and MathematicsNGSDatabase Management Systemscomputer
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Alignment-free sequence comparison using absent words

2018

Sequence comparison is a prerequisite to virtually all comparative genomic analyses. It is often realised by sequence alignment techniques, which are computationally expensive. This has led to increased research into alignment-free techniques, which are based on measures referring to the composition of sequences in terms of their constituent patterns. These measures, such as $q$-gram distance, are usually computed in time linear with respect to the length of the sequences. In this paper, we focus on the complementary idea: how two sequences can be efficiently compared based on information that does not occur in the sequences. A word is an {\em absent word} of some sequence if it does not oc…

0301 basic medicineFOS: Computer and information sciencesFormal Languages and Automata Theory (cs.FL)Computer Science - Formal Languages and Automata TheorySequence alignmentInformation System0102 computer and information sciencesCircular wordAbsent words01 natural sciencesUpper and lower boundsSequence comparisonTheoretical Computer ScienceCombinatorics03 medical and health sciencesComputer Science - Data Structures and AlgorithmsData Structures and Algorithms (cs.DS)Absent wordCircular wordsMathematicsSequenceSettore INF/01 - InformaticaProcess (computing)q-gramComputer Science Applications1707 Computer Vision and Pattern Recognitionq-gramsComposition (combinatorics)Computer Science Applications030104 developmental biologyComputational Theory and MathematicsForbidden words010201 computation theory & mathematicsFocus (optics)Forbidden wordWord (computer architecture)Information SystemsInteger (computer science)
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