Search results for "binding proteins"

showing 10 items of 911 documents

Sema3a plays a role in the pathogenesis of CHARGE syndrome

2018

CHARGE syndrome is an autosomal dominant malformation disorder caused by heterozygous loss of function mutations in the chromatin remodeler CHD7. Chd7 regulates the expression of Sema3a, which also contributes to the pathogenesis of Kallmann syndrome, a heterogeneous condition with the typical features hypogonadotropic hypogonadism and an impaired sense of smell. Both features are common in CHARGE syndrome suggesting that SEMA3A may provide a genetic link between these syndromes. Indeed, we find evidence that SEMA3A plays a role in the pathogenesis of CHARGE syndrome. First, Chd7 is enriched at the Sema3a promotor in neural crest cells and loss of function of Chd7 inhibits Sema3a expression…

0301 basic medicineEmbryo NonmammalianKallmann syndromePHENOTYPIC SPECTRUMmedicine.disease_causeSeverity of Illness IndexEpigenesis GeneticPathogenesisAXON GUIDANCECHD7CHARGE syndromeXenopus laevis0302 clinical medicineHYPOGONADOTROPIC HYPOGONADISMPromoter Regions GeneticGenetics (clinical)GeneticsMutationGeneral MedicinePhenotypeDNA-Binding ProteinsNEURAL CREST CELLSNeural CrestHomeobox Protein Nkx-2.5MIGRATIONBiology03 medical and health sciencesHypogonadotropic hypogonadismKALLMANN-SYNDROMEGeneticsmedicineAnimalsHumansEpigeneticsSHORT STATUREMolecular BiologyLoss functionMUTATIONSGenetic Complementation TestDNA HelicasesSemaphorin-3AKallmann Syndromemedicine.diseaseDisease Models Animal030104 developmental biologyHEK293 CellsXENOPUS-EMBRYOSMutationCHARGE Syndrome030217 neurology & neurosurgery
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Single-cell trajectories reconstruction, exploration and mapping of omics data with STREAM

2019

Single-cell transcriptomic assays have enabled the de novo reconstruction of lineage differentiation trajectories, along with the characterization of cellular heterogeneity and state transitions. Several methods have been developed for reconstructing developmental trajectories from single-cell transcriptomic data, but efforts on analyzing single-cell epigenomic data and on trajectory visualization remain limited. Here we present STREAM, an interactive pipeline capable of disentangling and visualizing complex branching trajectories from both single-cell transcriptomic and epigenomic data. We have tested STREAM on several synthetic and real datasets generated with different single-cell techno…

0301 basic medicineEpigenomicsMultifactor Dimensionality ReductionComputer scienceGeneral Physics and Astronomy02 engineering and technologyOmics dataMyoblastsMiceSingle-cell analysisGATA1 Transcription FactorMyeloid CellsLymphocyteslcsh:ScienceData processingMultidisciplinaryQGene Expression Regulation DevelopmentalRNA sequencingCell DifferentiationGenomics021001 nanoscience & nanotechnologyData processingDNA-Binding ProteinsInterferon Regulatory FactorsSingle-Cell Analysis0210 nano-technologyAlgorithmsOmics technologiesSignal TransductionLineage differentiationScienceComputational biologyGeneral Biochemistry Genetics and Molecular BiologyArticle03 medical and health sciencesErythroid CellsAnimalsCell LineageGeneral Chemistrydevelopmental trajectories visualizationHematopoietic Stem CellsPipeline (software)Visualization030104 developmental biologyTheoryofComputation_MATHEMATICALLOGICANDFORMALLANGUAGESCellular heterogeneitySingle cell analysilcsh:QGene expressionTranscriptomeTranscription FactorsNature Communications
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7-Keto-Cholesterol and Cholestan-3beta, 5alpha, 6beta-Triol Induce Eryptosis through Distinct Pathways Leading to NADPH Oxidase and Nitric Oxide Synt…

2019

Background/aims We showed that patho-physiological concentrations of either 7-keto-cholesterol (7-KC), or cholestane-3beta, 5alpha, 6beta-triol (TRIOL) caused the eryptotic death of human red blood cells (RBC), strictly dependent on the early production of reactive oxygen species (ROS). The goal of the current study was to assess the contribution of the erythrocyte ROS-generating enzymes, NADPH oxidase (RBC-NOX), nitric oxide synthase (RBC-NOS) and xanthine oxido-reductase (XOR) to the oxysterol-dependent eryptosis and pertinent activation pathways. Methods Phosphatidylserine exposure at the cell surface was estimated from annexin-V-binding, reactive oxygen/nitrogen species (RONS) and nitri…

0301 basic medicineErythrocytesPhysiologyEryptosisNADPH Oxidaselcsh:PhysiologyMethemoglobinHemoglobinsPhosphatidylinositol 3-Kinaseschemistry.chemical_compound0302 clinical medicinelcsh:QD415-436RBC-NOS activationKetocholesterolsHemechemistry.chemical_classificationNADPH oxidaselcsh:QP1-981biologyrac GTP-Binding ProteinsCholestanolErythrocyteNitric oxide synthaseRac GTP-Binding ProteinsRBC-NOX activationToxic oxysterolBiochemistry030220 oncology & carcinogenesisOxidation-ReductionHumanSignal Transductioncirculatory and respiratory physiologyOxidative phosphorylationlcsh:BiochemistryNitrosative stre03 medical and health sciencesHumansHemoglobinReactive oxygen speciesKetocholesterolNADPH Oxidases030104 developmental biologychemistrybiology.proteinTriolPhosphatidylinositol 3-KinaseNitric Oxide SynthaseEryptosiProto-Oncogene Proteins c-aktCholestanolsCellular Physiology and Biochemistry
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Adaptation of gene loci to heterochromatin in the course of Drosophila evolution is associated with insulator proteins.

2020

AbstractPericentromeric heterochromatin is generally composed of repetitive DNA forming a transcriptionally repressive environment. Dozens of genes were embedded into pericentromeric heterochromatin during evolution of Drosophilidae lineage while retaining activity. However, factors that contribute to insusceptibility of gene loci to transcriptional silencing remain unknown. Here, we find that the promoter region of genes that can be embedded in both euchromatin and heterochromatin exhibits a conserved structure throughout the Drosophila phylogeny and carries motifs for binding of certain chromatin remodeling factors, including insulator proteins. Using ChIP-seq data, we demonstrate that ev…

0301 basic medicineEuchromatinHeterochromatinEvolutionMolecular biologyAdaptation Biologicallcsh:MedicineInsulator (genetics)Chromatin remodelingArticleEvolutionary geneticsEvolution Molecular03 medical and health sciences0302 clinical medicineDrosophilidaeHeterochromatinAnimalsDrosophila ProteinsNucleotide Motifslcsh:ScienceEye ProteinsPromoter Regions GeneticGenePericentric heterochromatinPhylogenyGeneticsMultidisciplinarygeenitBinding Sitesbiologylcsh:RfungiChromosome MappingPromoterDNAbiology.organism_classificationChromatinDNA-Binding Proteins030104 developmental biologyGene Expression RegulationGenetic LociChromatin Immunoprecipitation SequencingMolecular evolutionlcsh:QDrosophilaTranscription Initiation SiteTranscription030217 neurology & neurosurgeryProtein BindingScientific reports
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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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Q-nexus: a comprehensive and efficient analysis pipeline designed for ChIP-nexus

2016

Background: ChIP-nexus, an extension of the ChIP-exo protocol, can be used to map the borders of protein-bound DNA sequences at nucleotide resolution, requires less input DNA and enables selective PCR duplicate removal using random barcodes. However, the use of random barcodes requires additional preprocessing of the mapping data, which complicates the computational analysis. To date, only a very limited number of software packages are available for the analysis of ChIP-exo data, which have not yet been systematically tested and compared on ChIP-nexus data. Results: Here, we present a comprehensive software package for ChIP-nexus data that exploits the random barcodes for selective removal …

0301 basic medicineFOS: Computer and information sciencesDuplication ratesChromatin ImmunoprecipitationBioinformaticsPipeline (computing)610Biologycomputer.software_genre600 Technik Medizin angewandte Wissenschaften::610 Medizin und Gesundheit03 medical and health sciencesSoftwareChIP-nexusGeneticsPreprocessorNucleotide MotifsLibrary complexityChIP-exoGeneticsProtocol (science)Binding Sitesbusiness.industryfungiComputational BiologyHigh-Throughput Nucleotide SequencingReproducibility of ResultsChipChromatin immunoprecipitationData mappingDNA-Binding ProteinsAlgorithm030104 developmental biologyChIP-exoData miningbusinessPeak callingcomputerAlgorithmsSoftwareProtein BindingTranscription FactorsResearch ArticleBiotechnologyBMC Genomics
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Visualizing the spatiotemporal map of Rac activation in bovine aortic endothelial cells under laminar and disturbed flows.

2017

Disturbed flow can eliminate the alignment of endothelial cells in the direction of laminar flow, and significantly impacts on atherosclerosis in collateral arteries near the bifurcation and high curvature regions. While shear stress induced Rac polarity has been shown to play crucial roles in cell polarity and migration, little is known about the spatiotemporal map of Rac under disturbed flow, and the mechanism of flow-induced cell polarity still needs to be elucidated. In this paper, disturbed flow or laminar flow with 15 dyn/cm2 of average shear stress was applied on bovine aortic endothelial cells (BAECs) for 30 minutes. A genetically-encoded PAK-PBD-GFP reporter was transfected into BA…

0301 basic medicineFluorescence-lifetime imaging microscopyCell Membraneslcsh:MedicineMicrotubulesCell membraneLaminar Flow0302 clinical medicineCell polarityFluorescence microscopeMembrane fluidityCytoskeletonlcsh:ScienceShear StressesCytoskeletonAortaMultidisciplinaryChemistryPhysicsClassical MechanicsCell Polarityrac GTP-Binding Proteinsmedicine.anatomical_structurePhysical SciencesMechanical StressCellular Structures and OrganellesResearch ArticleCell PhysiologyImaging TechniquesMembrane FluidityFluid MechanicsResearch and Analysis MethodsContinuum Mechanics03 medical and health sciencesFluorescence ImagingShear stressmedicineAnimalsFluid Flowlcsh:RBiology and Life SciencesFluid DynamicsLaminar flowCell Biology030104 developmental biologyBiophysicsCattlelcsh:QEndothelium Vascular030217 neurology & neurosurgeryPLoS ONE
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Evolutionary conserved role of eukaryotic translation factor eIF5A in the regulation of actin-nucleating formins

2017

AbstractElongation factor eIF5A is required for the translation of consecutive prolines, and was shown in yeast to translate polyproline-containing Bni1, an actin-nucleating formin required for polarized growth during mating. Here we show that Drosophila eIF5A can functionally replace yeast eIF5A and is required for actin-rich cable assembly during embryonic dorsal closure (DC). Furthermore, Diaphanous, the formin involved in actin dynamics during DC, is regulated by and mediates eIF5A effects. Finally, eIF5A controls cell migration and regulates Diaphanous levels also in mammalian cells. Our results uncover an evolutionary conserved role of eIF5A regulating cytoskeleton-dependent processes…

0301 basic medicineFluorescent Antibody Techniquelcsh:Medicinemacromolecular substancesBiologyArticleMiceEukaryotic cells03 medical and health sciencesEukaryotic translationCell MovementPeptide Initiation FactorsCitosqueletProtein biosynthesisAnimalsProtein Interaction Domains and Motifslcsh:ScienceCytoskeletonActinMultidisciplinaryCèl·lules eucariotesMicrofilament Proteinsfungilcsh:RGene Expression Regulation DevelopmentalRNA-Binding ProteinsTranslation (biology)Biological EvolutionActinsDorsal closureCell biologyElongation factor030104 developmental biologyProtein BiosynthesisForminsMutationbiology.proteinDrosophilalcsh:QEIF5AScientific Reports
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ZNF518B gene up-regulation promotes dissemination of tumour cells and is governed by epigenetic mechanisms in colorectal cancer

2019

AbstractMost of colorectal cancer CRC-related death is due to metastasis and the finding of markers for prognosis of invasiveness, constitutes an appealing challenge. Here, after analysing cDNA array containing 43 tumour and 5 normal mucosa samples, we report that the expression of the ZNF518B gene as a whole and that of its two major splicing isoforms are significantly increased in tumours. The canonical isoform was also up-regulated in a patients’ cohort containing 70 tumour and 69 adjacent tissue samples. The effects of silencing ZNF518B on the phenotype of CRC cell lines were then studied. The gene does not affect cell proliferation, but plays a significant role in cell migration and in…

0301 basic medicineGene isoformEpithelial-Mesenchymal TransitionCelllcsh:MedicineBiologyArticleHistone DeacetylasesEpigenesis GeneticHistones03 medical and health sciences0302 clinical medicineCell MovementCell Line TumorGene expressionmedicineGene silencingHumansProtein IsoformsEpigeneticsNeoplasm Metastasislcsh:ScienceGeneCell ProliferationNeoplasm StagingMultidisciplinaryGene Expression Profilinglcsh:RPrognosisColorectal cancer3. Good healthDNA-Binding ProteinsGene Expression Regulation Neoplastic030104 developmental biologymedicine.anatomical_structureHistoneGene Knockdown TechniquesCancer researchbiology.proteinH3K4me3lcsh:QEpigeneticsColorectal Neoplasms030217 neurology & neurosurgeryScientific Reports
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The MDS and EVI1 complex locus (MECOM) isoforms regulate their own transcription and have different roles in the transformation of hematopoietic stem…

2016

Transcriptional activation of the EVI1 oncogene (3q26) leads to aggressive forms of human acute myeloid leukemia (AML). However, the mechanism of EVI1-mediated leukemogenesis has not been fully elucidated. Previously, by characterizing the EVI1 promoter, we have shown that RUNX1 and ELK1 directly regulate EVI1 transcription. Intriguingly, bioinformatic analysis of the EVI1 promoter region identified the presence of several EVI1 potential binding sites. Thus, we hypothesized that EVI1 could bind to these sites regulating its own transcription. In this study, we show that there is a functional interaction between EVI1 and its promoter, and that the different EVI1 isoforms (EVI1-145kDa, EVI1-Δ…

0301 basic medicineGene isoformMECOMResponse elementBiophysicsBiologyBiochemistryCell LineMice03 medical and health scienceschemistry.chemical_compoundStructural BiologyTranscription (biology)Proto-OncogenesGeneticsAnimalsHumansProgenitor cellPromoter Regions GeneticMolecular BiologyTranscription factorGeneticsLeukemiaGene Expression Regulation LeukemicPromoterHematopoietic Stem CellsMDS1 and EVI1 Complex Locus ProteinCell biologyDNA-Binding ProteinsCell Transformation Neoplastic030104 developmental biologyRUNX1chemistryTranscription FactorsBiochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms
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