Search results for "Spliceosomes"

showing 6 items of 6 documents

All-atom simulations disentangle the functional dynamics underlying gene maturation in the intron lariat spliceosome

2018

The spliceosome (SPL) is a majestic macromolecular machinery composed of five small nuclear RNAs and hundreds of proteins. SPL removes noncoding introns from precursor messenger RNAs (pre-mRNAs) and ligates coding exons, giving rise to functional mRNAs. Building on the first SPL structure solved at near–atomic-level resolution, here we elucidate the functional dynamics of the intron lariat spliceosome (ILS) complex through multi-microsecond-long molecular-dynamics simulations of ∼1,000,000 atoms models. The ILS essential dynamics unveils (i) the leading role of the Spp42 protein, which heads the gene maturation by tuning the motions of distinct SPL components, and (ii) the critical particip…

Models Molecular0301 basic medicineProtein ConformationSplicingExonMolecular dynamicsRNA; gene maturation; molecular dynamics; spliceosome; splicingModelsRNA Small NuclearRNA PrecursorsMagnesiumPrincipal Component AnalysisMultidisciplinaryChemistrySpliceosomeFungalPhysical SciencesRNA splicingSpliceosomeRNA Splicing1.1 Normal biological development and functioningStatic ElectricityComputational biologyMolecular dynamicsMolecular Dynamics Simulation03 medical and health sciencesMotionsplicingU5 Small NuclearSmall NuclearGeneticUnderpinning researchSchizosaccharomycesGeneticsComputer SimulationGeneRibonucleoprotein U5 Small NuclearModels Geneticgene maturationIntronRNAMolecularRNA FungalRibonucleoproteinIntronsmolecular dynamicsRepressor Proteins030104 developmental biologyGene maturationHelixSpliceosomesRNANucleic Acid ConformationSchizosaccharomyces pombe ProteinsGeneric health relevancespliceosome
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Prefoldins contribute to maintaining the levels of the spliceosome LSM2–8 complex through Hsp90 in Arabidopsis

2020

14 p.-7 fig.-2 tab.

0106 biological sciencesSpliceosomeAcademicSubjects/SCI00010RNA SplicingMutantArabidopsis01 natural sciencesChaperonin//purl.org/becyt/ford/1 [https]03 medical and health sciencesGene Expression Regulation PlantArabidopsisRNA and RNA-protein complexesGeneticsHSP90 Heat-Shock Proteins//purl.org/becyt/ford/1.6 [https]030304 developmental biologyprefoldins0303 health sciencesbiologyArabidopsis ProteinsRNA-Binding Proteinsbiology.organism_classificationHsp903. Good healthCell biologyProteostasisMultiprotein ComplexesMutationRNA splicingSpliceosomesbiology.proteinLSM2-8 complexspliceosomeSmall nuclear RNAMolecular ChaperonesProtein Binding010606 plant biology & botany
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A Shotgun Proteomics Approach Reveals a New Toxic Role for Alzheimer's Disease Aβ Peptide: Spliceosome Impairment.

2017

Proteomic changes have been described in many neurodegenerative diseases, including Alzheimer's disease (AD). However, the early events in the onset of the pathology are yet to be fully elucidated. A cell model system in which LAN5 neuroblastoma cells were incubated for a short time with a recombinant form of Aβ42 was utilized. Proteins extracted from these cells were subjected to shotgun proteomics analysis by LTQ-Orbitrap-MS followed by label-free quantitation. By bioinformatics tools we found that the most significant of those found to be up-regulated were related to cytoskeletal dynamics (Rho related) and membrane-related processes. The most significant of the down-regulated proteins we…

0301 basic medicineSpliceosomeAmyloid beta-PeptideProteomeComputational biologyDiseaseBiologyBiochemistrylaw.inventionearly events in AD03 medical and health sciencesNeuroblastoma0302 clinical medicinelawAlzheimer DiseaseCell Line TumorHumansShotgun proteomicsCytoskeletonCytoskeletonGeneticsAmyloid beta-PeptidesChemistry (all)Cell MembraneGeneral ChemistryRibosomal RNAAlzheimer's diseaseRecombinant Proteinshotgun proteomicRecombinant Proteins030104 developmental biologySpliceosomeGene Expression RegulationRNA splicingRecombinant DNASpliceosomes030217 neurology & neurosurgeryBiogenesisHumanJournal of proteome research
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Deregulated Splicing Is a Major Mechanism of RNA-Induced Toxicity in Huntington's Disease.

2019

Huntington's disease (HD) is caused by an expanded CAG repeat in the huntingtin (HTT) gene, translating into an elongated polyglutamine stretch. In addition to the neurotoxic mutant HTT protein, the mutant CAG repeat RNA can exert toxic functions by trapping RNA-binding proteins. While few examples of proteins that aberrantly bind to mutant HTT RNA and execute abnormal function in conjunction with the CAG repeat RNA have been described, an unbiased approach to identify the interactome of mutant HTT RNA is missing. Here, we describe the analysis of proteins that preferentially bind mutant HTT RNA using a mass spectrometry approach. We show that (I) the majority of proteins captured by mutant…

congenital hereditary and neonatal diseases and abnormalitiesSpliceosomeHuntingtinRNA SplicingMutantRNA-binding proteinRNA-binding proteinsBiologygenetics [Huntington Disease]Structural Biologymental disordersmedicineAnimalsHumansddc:610genetics [RNA]Molecular BiologyGeneHuntingtin Proteingenetics [Spliceosomes]CAG repeat RNANeurodegenerationneurodegenerationRNAgenetics [Huntingtin Protein]medicine.diseasenervous system diseasesCell biologypolyglutamine diseaseHuntington Diseasenervous systemCardiovascular and Metabolic DiseasesRNA splicingSpliceosomesgenetics [RNA Splicing]RNATechnology PlatformsspliceosomeJournal of molecular biology
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SANS (USH1G) regulates pre-mRNA splicing by mediating the intra-nuclear transfer of tri-snRNP complexes

2021

Abstract Splicing is catalyzed by the spliceosome, a compositionally dynamic complex assembled stepwise on pre-mRNA. We reveal links between splicing machinery components and the intrinsically disordered ciliopathy protein SANS. Pathogenic mutations in SANS/USH1G lead to Usher syndrome—the most common cause of deaf-blindness. Previously, SANS was shown to function only in the cytosol and primary cilia. Here, we have uncovered molecular links between SANS and pre-mRNA splicing catalyzed by the spliceosome in the nucleus. We show that SANS is found in Cajal bodies and nuclear speckles, where it interacts with components of spliceosomal sub-complexes such as SF3B1 and the large splicing cofact…

ProteomicsAcademicSubjects/SCI00010Ribonucleoprotein U4-U6 Small NuclearSF3B1 GeneMass Spectrometry0302 clinical medicineRNA Small NuclearRNA PrecursorsIn Situ Hybridization FluorescenceRibonucleoprotein0303 health sciencesChemistryRibonucleoproteins Small NuclearImmunohistochemistryCell biologyDNA-Binding Proteinsmedicine.anatomical_structureGene Knockdown TechniquesRNA splicingRNA Splicing FactorsUsher SyndromesSpliceosomeCoiled BodiesNerve Tissue ProteinsBiologyMinor Histocompatibility Antigens03 medical and health sciencesMicroscopy Electron TransmissionRNA and RNA-protein complexesGeneticsmedicineHumanssnRNPEye ProteinsGeneCell Proliferation030304 developmental biologyCell NucleusRNAmedicine.diseasePhosphoproteinsCiliopathyAlternative SplicingCell nucleusHEK293 CellsCajal bodyCytoplasmSpliceosomesNucleus030217 neurology & neurosurgeryTranscription FactorsNucleic Acids Research
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NineTeen Complex-subunit Salsa is required for efficient splicing of a subset of introns and dorsal-ventral patterning

2020

© 2020 Rathore et al. This article is distributed exclusively by the RNASociety for the first 12 months after the full-issue publication date (see http://rnajournal.cshlp.org/site/misc/terms.xhtml). After 12 months, it is available under a Creative Commons License (Attribution-NonCommercial 4.0 International), as described at http://creativecommons.org/licenses/by-nc/4.0/.

SpliceosomeBiochemistry & Molecular BiologyRNA SplicingBiologySplicingGermlineArticleMidblastulaDorsal-ventral patterning03 medical and health sciencesAnimalsDrosophila ProteinsFemale fertilityGurkenMolecular BiologyGene030304 developmental biologyBody Patterning0303 health sciencesMessenger RNA030302 biochemistry & molecular biologyfungiIntronGene Expression Regulation DevelopmentalTransforming Growth Factor alphaRNA Helicase AIntronsCell biologyDorsal-ventral patterning; Drosophila; Female fertility; Gurken; Splicing; dorsal–ventral patterning; female fertility; splicingDNA-Binding ProteinsDrosophila melanogasterRNA splicingSpliceosomesFemaleDrosophilaInfertility Female
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