Search results for "binding"

showing 10 items of 3896 documents

Functional impacts of 5-hydroxymethylcytosine, 5-formylcytosine, and 5-carboxycytosine at a single hemi-modified CpG dinucleotide in a gene promoter

2017

Abstract Enzymatic oxidation of 5-methylcytosine (5-mC) in the CpG dinucleotides to 5-hydroxymethylcytosine (5-hmC), 5-formylcytosine (5-fC) and 5-carboxycytosine (5-caC) has central role in the process of active DNA demethylation and epigenetic reprogramming in mammals. However, it is not known whether the 5-mC oxidation products have autonomous epigenetic or regulatory functions in the genome. We used an artificial upstream promoter constituted of one cAMP response element (CRE) to measure the impact of 5-mC in a hemi-methylated CpG on the promoter activity and further explored the consequences of 5-hmC, 5-fC, and 5-caC in the same system. All modifications induced mild impairment of the …

0301 basic medicineResponse elementCREB03 medical and health sciencesCytosine0302 clinical medicineGeneticsAnimalsHumansCyclic AMP Response Element-Binding ProteinPromoter Regions GeneticRegulation of gene expressionbiologyBase SequenceGene regulation Chromatin and EpigeneticsPromoterDNADNA MethylationThymine DNA GlycosylaseCell biology030104 developmental biologyDNA demethylationCpG siteGene Expression RegulationDNA glycosylaseDNA methylationbiology.protein5-MethylcytosineCpG Islands030217 neurology & neurosurgeryProtein BindingNucleic Acids Research
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Progressive Characterization of Visual Phenotype in Bardet-Biedl Syndrome Mutant Mice

2019

Purpose Bardet-Biedl syndrome (BBS) is an archetypical ciliopathy caused by defective ciliary trafficking and consequent function. Insights gained from BBS mouse models are applicable to other syndromic and nonsyndromic retinal diseases. This progressive characterization of the visual phenotype in three BBS mouse models sets a baseline for testing therapeutic interventions. Methods Longitudinal acquisition of electroretinograms, optical coherence tomography scans, and visual acuity using the optomotor reflex in Bbs6/Mkks, Bbs8/Ttc8, and Bbs5 knockout mice. Gene and protein expression analysis in vivo and in vitro. Results Complete loss of BBS5, BBS6, or BBS8 leads to different rates of reti…

0301 basic medicineRetinal degenerationAgingBBSomeGenotyping Techniquesgenetic structuresBlotting WesternGroup II ChaperoninsBBS5030105 genetics & heredityBiologyReal-Time Polymerase Chain ReactionRetinaMKKSMice03 medical and health sciencesBardet–Biedl syndromeElectroretinographymedicineAnimalsBardet-Biedl SyndromeVision OcularMice Knockoutmedicine.diagnostic_testRetinal DegenerationPhosphate-Binding Proteinsmedicine.diseaseImmunohistochemistryMice Mutant StrainsCytoskeletal ProteinsDisease Models AnimalCiliopathyPhenotype030104 developmental biologyKnockout mouseCarrier ProteinsMicrotubule-Associated ProteinsNeuroscienceTomography Optical CoherenceSignal TransductionElectroretinographyInvestigative Opthalmology & Visual Science
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Mechanism and biological role of Dnmt2 in Nucleic Acid Methylation

2016

ABSTRACT A group of homologous nucleic acid modification enzymes called Dnmt2, Trdmt1, Pmt1, DnmA, and Ehmet in different model organisms catalyze the transfer of a methyl group from the cofactor S-adenosyl-methionine (SAM) to the carbon-5 of cytosine residues. Originally considered as DNA MTases, these enzymes were shown to be tRNA methyltransferases about a decade ago. Between the presumed involvement in DNA modification-related epigenetics, and the recent foray into the RNA modification field, significant progress has characterized Dnmt2-related research. Here, we review this progress in its diverse facets including molecular evolution, structural biology, biochemistry, chemical biology,…

0301 basic medicineRetroelementsRNA methylationChemical biologyReviewBiologyMethylationCatalysisEpigenesis GeneticSubstrate Specificity03 medical and health scienceschemistry.chemical_compoundStructure-Activity RelationshipNucleic AcidsAnimalsHumansEpigeneticsDNA (Cytosine-5-)-MethyltransferasesGene SilencingMolecular BiologytRNAPhylogenyGeneticsNucleic acid methylationDNA methylationBinding SitesepigeneticsCell BiologyTRNA Methyltransferasesmethylcytidine030104 developmental biologyCell Transformation NeoplasticBiochemistrychemistryStructural biologyGene Expression RegulationNucleic acidRNA methylationDNAProtein BindingRNA Biology
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Peripherin-2 differentially interacts with cone opsins in outer segments of cone photoreceptors

2016

Peripherin-2 is a glycomembrane protein exclusively expressed in the light-sensing compartments of rod and cone photoreceptors designated as outer segments (OS). Mutations in peripherin-2 are associated with degenerative retinal diseases either affecting rod or cone photoreceptors. While peripherin-2 has been extensively studied in rods, there is only little information on its supramolecular organization and function in cones. Recently, we have demonstrated that peripherin-2 interacts with the light detector rhodopsin in OS of rods. It remains unclear, however, if peripherin-2 also binds to cone opsins. Here, using a combination of co-immunoprecipitation analyses, transmission electron micr…

0301 basic medicineRhodopsinOpsingenetic structuresmacromolecular substances030105 genetics & heredityBiologymedicine.disease_causeRetinaMice03 medical and health scienceschemistry.chemical_compoundImmunolabelingMicroscopy Electron TransmissionAntigens NeoplasmFluorescence Resonance Energy TransferGeneticsmedicineAnimalsHumansPeripherin 2Molecular BiologyGenetics (clinical)MutationRetinal DegenerationRetinalGeneral MedicineCone Opsinseye diseases030104 developmental biologyFörster resonance energy transfernervous systemchemistryRhodopsinMutationRetinal Cone Photoreceptor CellsBiophysicsbiology.proteinsense organsProtein BindingVisual phototransductionHuman Molecular Genetics
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A protein-RNA interaction atlas of the ribosome biogenesis factor AATF

2018

AbstractAATF is a central regulator of the cellular outcome upon p53 activation, a finding that has primarily been attributed to its function as a transcription factor. Recent data showed that AATF is essential for ribosome biogenesis and plays a role in rRNA maturation. AATF has been implicated to fulfil this role through direct interaction with rRNA and was identified in several RNA-interactome capture experiments. Here, we provide a first comprehensive analysis of the RNA bound by AATF using CLIP-sequencing. Interestingly, this approach shows predominant binding of the 45S pre-ribosomal RNA precursor molecules. Furthermore, AATF binds to mRNAs encoding for ribosome biogenesis factors as …

0301 basic medicineRibosomal ProteinsRegulatorRibosome biogenesisProteomic analysislcsh:MedicineInteractomeArticleCell Line03 medical and health sciencesMice0302 clinical medicineRNA PrecursorsAnimalsHumansSmall nucleolar RNABinding sitelcsh:ScienceTranscription factor030304 developmental biologyRNA metabolism0303 health sciencesMultidisciplinaryBinding SitesChemistrylcsh:RRNARibosomal RNACell biologyRibosome Subunits SmallRepressor Proteins030104 developmental biologyHEK293 Cells030220 oncology & carcinogenesisRNAlcsh:QApoptosis Regulatory ProteinsRibosomes030217 neurology & neurosurgeryProtein BindingScientific Reports
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The ribosome assembly gene network is controlled by the feedback regulation of transcription elongation

2017

Ribosome assembly requires the concerted expression of hundreds of genes, which are transcribed by all three nuclear RNA polymerases. Transcription elongation involves dynamic interactions between RNA polymerases and chromatin. We performed a synthetic lethal screening in Saccharomyces cerevisiae with a conditional allele of SPT6, which encodes one of the factors that facilitates this process. Some of these synthetic mutants corresponded to factors that facilitate pre-rRNA processing and ribosome biogenesis. We found that the in vivo depletion of one of these factors, Arb1, activated transcription elongation in the set of genes involved directly in ribosome assembly. Under these depletion c…

0301 basic medicineRibosomal ProteinsSaccharomyces cerevisiae ProteinsTranscription Elongation GeneticCèl·lulesÀcids nucleicsGene regulatory networkRibosome biogenesisSaccharomyces cerevisiaeBiologyRibosome assembly03 medical and health sciencesRegulació genèticaGeneticsGene Regulatory NetworksHistone ChaperonesRNA Processing Post-TranscriptionalGeneAdenosine TriphosphatasesFeedback PhysiologicalMessenger RNAOrganelle BiogenesisGene regulation Chromatin and EpigeneticsRNAChromatinCell biology030104 developmental biologyRNA RibosomalMutationATP-Binding Cassette TransportersOrganelle biogenesisTranscriptional Elongation FactorsSynthetic Lethal MutationsTranscriptomeRibosomes
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Structure-Based Discovery of Small Molecules Binding to RNA

2017

Ribonucleic acids (RNAs) constitute attractive drug targets. The wealth of structural information about RNAs is steadily increasing making it possible to use this information for the design of new ligands. Two methods that make heavy use of structural knowledge for ligand discovery are molecular docking and fragment screening. In molecular docking the structure of the binding site is used as a template for the design of new ligands using computational methods whereas in fragment screening biophysical methods are used for the detection of weak binding ligands which are subsequently elaborated into tighter binding molecules. In this chapter, we give an overview of both methods in the context …

0301 basic medicineRiboswitch010405 organic chemistryChemistryLigandBinding proteinRNAComputational biology01 natural sciencesSmall molecule0104 chemical sciences03 medical and health sciences030104 developmental biologyDocking (molecular)Structure basedBinding site
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Interaction of Intestinal Bacteria with Human Rotavirus during Infection in Children

2021

The gut microbiota has emerged as a key factor in the pathogenesis of intestinal viruses, including enteroviruses, noroviruses and rotaviruses (RVs), where stimulatory and inhibitory effects on infectivity have been reported. With the aim of determining whether members of the microbiota interact with RVs during infection, a combination of anti-RV antibody labeling, fluorescence-activated cell sorting and 16S rRNA amplicon sequencing was used to characterize the interaction between specific bacteria and RV in stool samples of children suffering from diarrhea produced by G1P[8] RV. The genera Ruminococcus and Oxalobacter were identified as RV binders in stools, displaying enrichments between …

0301 basic medicineRotavirusOxalobacter030106 microbiologyMicrobiologiaGut microbiotaBiologyGut floramedicine.disease_causeBacterisCatalysisRotavirus InfectionsArticleMicrobiologylcsh:ChemistryInorganic Chemistry03 medical and health sciencesAntigenBacterial ProteinsRotavirusRuminococcusmedicineHumansPhysical and Theoretical Chemistrylcsh:QH301-705.5Molecular BiologySpectroscopyInfectivity<i>Ruminococcus</i>gut microbiotaRuminococcusOrganic ChemistryAntibody titerGeneral Medicinebiology.organism_classificationComputer Science ApplicationsGastrointestinal MicrobiomeIntestines030104 developmental biologylcsh:Biology (General)lcsh:QD1-999Child Preschoolbiology.proteinAntibodyCaco-2 CellsBacteriaProtein Binding
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SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in fem…

2021

Contains fulltext : 231702.pdf (Publisher’s version ) (Closed access) Deletion 1p36 (del1p36) syndrome is the most common human disorder resulting from a terminal autosomal deletion. This condition is molecularly and clinically heterogeneous. Deletions involving two non-overlapping regions, known as the distal (telomeric) and proximal (centromeric) critical regions, are sufficient to cause the majority of the recurrent clinical features, although with different facial features and dysmorphisms. SPEN encodes a transcriptional repressor commonly deleted in proximal del1p36 syndrome and is located centromeric to the proximal 1p36 critical region. Here, we used clinical data from 34 individuals…

0301 basic medicineSHARPMaleobesitygenotype-phenotype correlationsAutism Spectrum DisorderPROTEINChromosome DisordersHaploinsufficiencyRNA-Binding ProteinPHENOTYPE CORRELATIONS1p36; distal 1p36 deletion syndrome; DNA methylome analysis; episignature; genotype-phenotype correlations; neurodevelopmental disorder; obesity; proximal 1p36 deletion syndrome; SPEN; X chromosome; Adolescent; Autism Spectrum Disorder; Child; Child Preschool; Chromosome Deletion; Chromosome Disorders; Chromosomes Human Pair 1; Chromosomes Human X; DNA Methylation; DNA-Binding Proteins; Epigenesis Genetic; Female; Haploinsufficiency; Humans; Intellectual Disability; Male; Neurodevelopmental Disorders; Phenotype; RNA-Binding Proteins; Young AdultEpigenesis GeneticX chromosome0302 clinical medicineNeurodevelopmental disorderNeurodevelopmental DisorderIntellectual disabilityMOLECULAR CHARACTERIZATIONdistal 1p36 deletion syndromeChildGenetics (clinical)X chromosomeGeneticsXDNA methylome analysiRNA-Binding ProteinsSPLIT-ENDSHypotoniaDNA-Binding ProteinsPhenotypeAutism spectrum disorderChromosomes Human Pair 1Child PreschoolDNA methylome analysisMONOSOMY 1P36Pair 1SPENFemalemedicine.symptomChromosome DeletionHaploinsufficiencyRare cancers Radboud Institute for Health Sciences [Radboudumc 9]HumanAdolescentDNA-Binding ProteinBiologygenotype-phenotype correlationChromosomes03 medical and health sciencesYoung AdultGeneticSDG 3 - Good Health and Well-beingReportIntellectual DisabilityREVEALSGeneticsmedicineHumansEpigeneticsPreschoolChromosomes Human XNeurodevelopmental disorders Donders Center for Medical Neuroscience [Radboudumc 7]1p361p36 deletion syndromeIDENTIFICATIONMUTATIONSproximal 1p36 deletion syndromeDNA Methylationmedicine.diseaseneurodevelopmental disorderGENEepisignature030104 developmental biologyChromosome DisorderNeurodevelopmental Disorders030217 neurology & neurosurgeryEpigenesis
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The Absence of HIF-1α Increases Susceptibility to Leishmania donovani Infection via Activation of BNIP3/mTOR/SREBP-1c Axis

2020

Summary: Hypoxia-inducible factor-1 alpha (HIF-1α) is considered a global regulator of cellular metabolism and innate immune cell functions. Intracellular pathogens such as Leishmania have been reported to manipulate host cell metabolism. Herein, we demonstrate that myeloid cells from myeloid-restricted HIF-1α-deficient mice and individuals with loss-of-function HIF1A gene polymorphisms are more susceptible to L. donovani infection through increased lipogenesis. Absence of HIF-1α leads to a defect in BNIP3 expression, resulting in the activation of mTOR and nuclear translocation of SREBP-1c. We observed the induction of lipogenic gene transcripts, such as FASN, and lipid accumulation in inf…

0301 basic medicineSREBP-1cHIF1A Gene[SDV]Life Sciences [q-bio]Leishmania donovaniHIF-1αGeneral Biochemistry Genetics and Molecular BiologyMitochondrial Proteins03 medical and health sciences0302 clinical medicinevisceral leishmaniasisAnimalsHumansMyeloid Cellslcsh:QH301-705.5GenelipogenesisPI3K/AKT/mTOR pathwayDisease ResistanceMice Inbred BALB CInnate immune systembiologyIntracellular parasiteLipogenesisMacrophagesTOR Serine-Threonine KinasesGenetic VariationMembrane Proteinsbiology.organism_classificationLeishmaniaHypoxia-Inducible Factor 1 alpha SubunitFASNLipidsmacrophages3. Good healthCell biologyUp-RegulationMice Inbred C57BL030104 developmental biologylcsh:Biology (General)myeloid cellsLipogenesisLeishmaniasis VisceralDisease SusceptibilityacetateSterol Regulatory Element Binding Protein 1030217 neurology & neurosurgeryLeishmania donovaniSignal Transduction
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