Search results for "D region"

showing 10 items of 235 documents

Dom34 Links Translation to Protein O-mannosylation.

2016

In eukaryotes, Dom34 upregulates translation by securing levels of activatable ribosomal subunits. We found that in the yeast Saccharomyces cerevisiae and the human fungal pathogen Candida albicans, Dom34 interacts genetically with Pmt1, a major isoform of protein O-mannosyltransferase. In C. albicans, lack of Dom34 exacerbated defective phenotypes of pmt1 mutants, while they were ameliorated by Dom34 overproduction that enhanced Pmt1 protein but not PMT1 transcript levels. Translational effects of Dom34 required the 5′-UTR of the PMT1 transcript, which bound recombinant Dom34 directly at a CA/AC-rich sequence and regulated in vitro translation. Polysomal profiling revealed that Dom34 stimu…

0301 basic medicineUntranslated regionCancer ResearchGlycosylationMolecular biologyHydrolasesOligonucleotidesGene ExpressionRNA-binding proteinCell Cycle ProteinsYeast and Fungal ModelsPathology and Laboratory MedicineMannosyltransferasesBiochemistryTranscription (biology)Untranslated RegionsCandida albicansMedicine and Health SciencesProtein IsoformsGenetics (clinical)CandidaFungal PathogensNucleotidesMessenger RNACell biologyEnzymesNucleic acidsDenaturationPhenotypesPhenotypeMedical MicrobiologySaccharomyces CerevisiaePathogensResearch ArticleGene isoformSaccharomyces cerevisiae Proteinslcsh:QH426-470NucleasesSaccharomyces cerevisiaeMycologyBiologyResearch and Analysis MethodsMicrobiology03 medical and health sciencesSaccharomycesModel OrganismsRibonucleasesDownregulation and upregulationEndoribonucleasesDNA-binding proteinsGeneticsHumansGeneMicrobial PathogensEcology Evolution Behavior and Systematics030102 biochemistry & molecular biologyOrganismsFungiBiology and Life SciencesProteinsRibosomal RNAbiology.organism_classificationMolecular biologyYeastRNA denaturationlcsh:Genetics030104 developmental biologyMolecular biology techniquesProtein BiosynthesisEnzymologyRNAProtein TranslationRibosomesPLoS Genetics
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Evolutionary conserved mechanisms pervade structure and transcriptional modulation of allograft inflammatory factor-1 from sea anemone Anemonia virid…

2017

Gene family encoding allograft inflammatory factor-1 (AIF-1) is well conserved among organisms; however, there is limited knowledge in lower organisms. In this study, the first AIF-1 homologue from cnidarians was identified and characterised in the sea anemone Anemonia viridis. The full-length cDNA of AvAIF-1 was of 913 bp with a 5' -untranslated region (UTR) of 148 bp, a 3'-UTR of 315 and an open reading frame (ORF) of 450 bp encoding a polypeptide with149 amino acid residues and predicted molecular weight of about 17 kDa. The predicted protein possesses evolutionary conserved EF hand Ca2+ binding motifs, post-transcriptional modification sites and a 3D structure which can be superimposed …

0301 basic medicineUntranslated regionCnidaria; Gene expression; Homology modelling; Inflammation; Sea anemone; Environmental Chemistry; Aquatic ScienceSettore BIO/11 - Biologia MolecolareSea anemoneSea anemoneAquatic ScienceAnemoniaEvolution Molecular03 medical and health sciencesCnidaria0302 clinical medicineComplementary DNABotanyGene familyEnvironmental ChemistryAnimalsAmino Acid SequenceeducationPhylogenyInflammationeducation.field_of_studybiologyBase SequenceEF handCalcium-Binding ProteinsGeneral Medicinebiology.organism_classificationCell biologyCnidaria; Sea anemone; Gene expression; Inflammation; Homology modellingOpen reading frame030104 developmental biologySea Anemones030220 oncology & carcinogenesisAllograft inflammatory factor 1Gene expressionHomology modellingSequence Alignment
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The 5′ Untranslated Region of the EFG1 Transcript Promotes Its Translation To Regulate Hyphal Morphogenesis in Candida albicans

2018

ABSTRACTExtensive 5’ untranslated regions (UTR) are a hallmark of transcripts determining hyphal morphogenesis inCandida albicans.The major transcripts of theEFG1gene, which are responsible for cellular morphogenesis and metabolism, contain a 5’ UTR of up to 1170 nt. Deletion analyses of the 5’ UTR revealed a 218 nt sequence that is required for production of the Efg1 protein and its functions in filamentation, without lowering the level and integrity of theEFG1transcript. Polysomal analyses revealed that the 218 nt 5’ UTR sequence is required for efficient translation of the Efg1 protein. Replacement of theEFG1ORF by the heterologous reporter geneCaCBGlucconfirmed the positive regulatory i…

0301 basic medicineUntranslated regionFive prime untranslated region030106 microbiologyEFG1lcsh:QR1-502Morphogenesishyphal morphogenesistranslationMicrobiologiaHeterologousContext (language use)posttranscriptional regulationBiologyMicrobiologylcsh:Microbiology03 medical and health sciences5′ UTRCandida albicansMolecular BiologyGeneReporter geneTranslation (biology)QR1-502Cell biologyfilamentationOpen reading frame030104 developmental biologyRegulatory sequencemSphere
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Six Serum miRNAs Fail to Validate as Myotonic Dystrophy Type 1 Biomarkers.

2016

Myotonic dystrophy type 1 (DM1) is an autosomal dominant genetic disease caused by expansion of a CTG microsatellite in the 3' untranslated region of the DMPK gene. Despite characteristic muscular, cardiac, and neuropsychological symptoms, CTG trinucleotide repeats are unstable both in the somatic and germinal lines, making the age of onset, clinical presentation, and disease severity very variable. A molecular biomarker to stratify patients and to follow disease progression is, thus, an unmet medical need. Looking for a novel biomarker, and given that specific miRNAs have been found to be misregulated in DM1 heart and muscle tissues, we profiled the expression of 175 known serum miRNAs in …

0301 basic medicineUntranslated regionMalePathologyPhysiologylcsh:MedicineArtificial Gene Amplification and ExtensionDiseaseBioinformaticsBiochemistryPolymerase Chain Reaction0302 clinical medicineTrinucleotide RepeatsMedicine and Health SciencesMyotonic Dystrophylcsh:ScienceMusculoskeletal SystemMultidisciplinaryMusclesHematologyMiddle Aged3. Good healthBody FluidsNucleic acidsBlotting SouthernBloodGenetic DiseasesBiomarker (medicine)AnatomyResearch ArticleAdultmusculoskeletal diseasesmedicine.medical_specialtyBiologyResearch and Analysis MethodsMyotonic dystrophy03 medical and health sciencesExtraction techniquesmicroRNAmedicineGeneticsHumansNon-coding RNAMolecular Biology TechniquesGeneMolecular BiologyClinical GeneticsBiology and life sciencesGene Expression Profilinglcsh:Rmedicine.diseaseRNA extractionGene regulationGene expression profilingMicroRNAs030104 developmental biologySkeletal MusclesRNAlcsh:QGene expressionAge of onset030217 neurology & neurosurgeryBiomarkersPLoS ONE
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The nucleic acid-binding protein PcCNBP is transcriptionally regulated during the immune response in red swamp crayfish Procambarus clarkii

2016

Gene family encoding cellular nucleic acid binding proteins (CNBP) is well conserved among vertebrates; however, there is limited knowledge in lower organisms. In this study, a CNBP homolog from the red swamp crayfish Procambarus clarkii was characterised. The full-length cDNA of PcCNBP was of 1257 bp with a 5′-untranslated region (UTR) of 63 bp and a 3′-UTR of 331 bp with a poly (A) tail, and an open-reading frame (ORF) of 864 bp encoding a polypeptide of 287 amino acids with the predicted molecular weight of about 33 kDa. The predicted protein possesses 7 tandem repeats of 14 amino acids containing the CCHC zinc finger consensus sequence, two RGG-rich single-stranded RNA-binding domain an…

0301 basic medicineUntranslated regionNucleic acid-binding proteinDNA ComplementaryHemocytesTranscription GeneticGene ExpressionHepatopancreasSettore BIO/11 - Biologia MolecolareAstacoideaBiochemistry03 medical and health sciencesComplementary DNAAnimalsGene expression patternTissue DistributionAmino Acid SequenceZinc finger motifsProcambarus clarkiiZinc fingerchemistry.chemical_classificationInnate immunityOriginal PaperbiologyRNA-Binding ProteinsMolecular Sequence AnnotationZinc finger motifCell Biologybiology.organism_classificationCrayfishMolecular biologyCrayfishImmunity InnateCell biologyAmino acid030104 developmental biologychemistryNucleic acidHepatopancreasCrayfish; Gene expression pattern; Innate immunity; Nucleic acid-binding protein; Zinc finger motifs; Biochemistry; Cell Biology
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MicroRNAs miR-19, miR-340, miR-374 and miR-542 regulate MID1 protein expression.

2018

The MID1 ubiquitin ligase activates mTOR signaling and regulates mRNA translation. Misregulation of MID1 expression is associated with various diseases including midline malformation syndromes, cancer and neurodegenerative diseases. While this indicates that MID1 expression must be tightly regulated to prevent disease states specific mechanisms involved have not been identified. We examined miRNAs to determine mechanisms that regulate MID1 expression. MicroRNAs (miRNA) are small non-coding RNAs that recognize specific sequences in their target mRNAs. Upon binding, miRNAs typically downregulate expression of these targets. Here, we identified four miRNAs, miR-19, miR-340, miR-374 and miR-542…

0301 basic medicineUntranslated regionSmall interfering RNAPhysiologymetabolism [Microtubule Proteins]Alzheimer's DiseaseBiochemistryImmune PhysiologyMedicine and Health SciencesSmall interfering RNAsmetabolism [Transcription Factors]3' Untranslated RegionsImmune System ProteinsMultidisciplinarybiologyReverse Transcriptase Polymerase Chain ReactionMessenger RNAQRNuclear ProteinsNeurodegenerative DiseasesTranslation (biology)EnzymesUbiquitin ligaseCell biologyNucleic acidsNeurologyMicrotubule ProteinsMedicineOxidoreductasesLuciferasemetabolism [Nuclear Proteins]Research ArticleScienceUbiquitin-Protein LigasesImmunologyTransfectionResearch and Analysis MethodsReal-Time Polymerase Chain ReactionAntibodies03 medical and health sciencesMental Health and PsychiatrymicroRNAGeneticsHumansddc:610Non-coding RNAMolecular Biology TechniquesMolecular BiologyMessenger RNABiology and life sciencesThree prime untranslated regionHEK 293 cellsProteinsGene regulationphysiology [MicroRNAs]MicroRNAs030104 developmental biologyHEK293 CellsEnzymologybiology.proteinRNAProtein TranslationDementiaGene expressionTranscription FactorsMid1 protein human
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Characterisation of CDKL5 Transcript Isoforms in Human and Mouse.

2016

Mutations in the X-linked Cyclin-Dependent Kinase-Like 5 gene (CDKL5) cause early onset infantile spasms and subsequent severe developmental delay in affected children. Deleterious mutations have been reported to occur throughout the CDKL5 coding region. Several studies point to a complex CDKL5 gene structure in terms of exon usage and transcript expression. Improvements in molecular diagnosis and more extensive research into the neurobiology of CDKL5 and pathophysiology of CDKL5 disorders necessitate an updated analysis of the gene. In this study, we have analysed human and mouse CDKL5 transcript patterns both bioinformatically and experimentally. We have characterised the predominant brai…

0301 basic medicineUntranslated regionTranscription GeneticCDKL5lcsh:MedicineGene ExpressionArtificial Gene Amplification and ExtensionPolymerase Chain ReactionBiochemistryExonMice0302 clinical medicineCoding regionProtein Isoformslcsh:ScienceGeneticsRegulation of gene expressionMultidisciplinaryMammalian GenomicsHigh-Throughput Nucleotide SequencingExonsGenomicsNucleic acidsRNA isolationPhenotypeSpasms InfantileResearch ArticleGene isoformBiologyProtein Serine-Threonine KinasesPolyadenylationResearch and Analysis MethodsBiomolecular isolation03 medical and health sciencesGeneticsAnimalsHumansAdultsAmino Acid SequenceMolecular Biology TechniquesGeneMolecular BiologyAlternative splicinglcsh:RGene MappingInfant NewbornBiology and Life SciencesReverse Transcriptase-Polymerase Chain ReactionAlternative Splicing030104 developmental biologyGene Expression RegulationRNA processingAge GroupsAnimal GenomicsMutationPeople and PlacesExon MappingRNAlcsh:QPopulation Groupings030217 neurology & neurosurgeryPloS one
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ceRNA Network Regulation of TGF-β, WNT, FOXO, Hedgehog Pathways in the Pharynx of Ciona robusta

2021

The transforming growth factor-β (TGF-β) family of cytokines performs a multifunctional signaling, which is integrated and coordinated in a signaling network that involves other pathways, such as Wintless, Forkhead box-O (FOXO) and Hedgehog and regulates pivotal functions related to cell fate in all tissues. In the hematopoietic system, TGF-β signaling controls a wide spectrum of biological processes, from immune system homeostasis to the quiescence and self-renewal of hematopoietic stem cells (HSCs). Recently an important role in post-transcription regulation has been attributed to two type of ncRNAs: microRNAs and pseudogenes. Ciona robusta, due to its philogenetic position close to verte…

0301 basic medicineascidianpseudogenepseudogeneslcsh:ChemistryTransforming Growth Factor betaProtein Interaction MappingHomeostasisRNA-Seqlcsh:QH301-705.53' Untranslated RegionsSpectroscopyTissue homeostasisForkhead Box Protein O1Wnt signaling pathwayHigh-Throughput Nucleotide Sequencingvirus diseasesGeneral Medicinefemale genital diseases and pregnancy complicationsComputer Science ApplicationsCell biologyNGSStem cellTGF-βCell fate determinationBiologyCatalysisArticleInorganic ChemistryWNT03 medical and health sciencesmicroRNAAnimalsCell LineageHedgehog ProteinsTGF-Physical and Theoretical ChemistryMolecular BiologyHedgehogneoplasmsmiRNA030102 biochemistry & molecular biologyCompeting endogenous RNAOrganic ChemistryfungiComputational BiologyHematopoiesisWnt ProteinsMicroRNAs030104 developmental biologylcsh:Biology (General)lcsh:QD1-999Gene Expression RegulationImmune SystemPharynxFOXOCionaTransforming growth factorInternational Journal of Molecular Sciences
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miR-23b and miR-218 silencing increase Muscleblind-like expression and alleviate myotonic dystrophy phenotypes in mammalian models

2018

Functional depletion of the alternative splicing factors Muscleblind-like (MBNL 1 and 2) is at the basis of the neuromuscular disease myotonic dystrophy type 1 (DM1). We previously showed the efficacy of miRNA downregulation in Drosophila DM1 model. Here, we screen for miRNAs that regulate MBNL1 and MBNL2 in HeLa cells. We thus identify miR-23b and miR-218, and confirm that they downregulate MBNL proteins in this cell line. Antagonists of miR-23b and miR-218 miRNAs enhance MBNL protein levels and rescue pathogenic missplicing events in DM1 myoblasts. Systemic delivery of these “antagomiRs” similarly boost MBNL expression and improve DM1-like phenotypes, including splicing alterations, histo…

0301 basic medicinemusculoskeletal diseasesMalecongenital hereditary and neonatal diseases and abnormalitiesScienceMyoblasts SkeletalGeneral Physics and AstronomyMice TransgenicBiologyMyotonic dystrophyGeneral Biochemistry Genetics and Molecular BiologyArticleCell Line03 medical and health scienceschemistry.chemical_compoundMice0302 clinical medicineRNA interferencemicroRNAmedicineMBNL1Gene silencingAnimalsHumansMyotonic DystrophyGene SilencingRNA Messengerlcsh:ScienceMuscle Skeletal3' Untranslated RegionsMultidisciplinaryThree prime untranslated regionAlternative splicingQRNA-Binding ProteinsGeneral Chemistrymedicine.diseaseMyotoniaCell biologyUp-RegulationAlternative SplicingDisease Models AnimalMicroRNAs030104 developmental biologyPhenotypechemistrylcsh:Q030217 neurology & neurosurgeryHeLa CellsNature Communications
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Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the…

2015

The human chromosome 14q32 carries a cluster of imprinted genes which include the paternally expressed genes (PEGs) DLK1 and RTL1, as well as the maternally expressed genes (MEGs) MEG3, RTL1as, and MEG8. PEGs and MEGs expression at the 14q32.2-imprinted region are regulated by two differentially methylated regions (DMRs): the IG-DMR and the MEG3-DMR, which are respectively methylated on the paternal and unmethylated on the maternal chromosome 14 in most cells. Genetic and epigenetic abnormalities affecting these imprinted gene clusters result in two different phenotypes currently known as maternal upd(14) syndrome and paternal upd(14) syndrome. However, only few patients carrying a maternal…

14q32.2 imprinted regionGenotypeBiologyPregnancy ProteinsMEG3-DMRGenomic ImprintingPaternal uniparental disomy chromosome 14 [upd(14)pat]GeneticsmedicineHumans14q32.2 maternal deletionEpigenetics"coat-hanger" rib signGeneGenetics (clinical)Sequence DeletionGeneticsMEG3Chromosomes Human Pair 14Comparative Genomic HybridizationIG-DMRMEG3 geneCalcium-Binding ProteinsInfant NewbornChromosomeMembrane ProteinsSyndromeDNA MethylationUniparental Disomymedicine.diseasePrognosisPhenotypeMolecular biologyUniparental disomyDifferentially methylated regionsPhenotypeSkeletal dysplasiaIntercellular Signaling Peptides and ProteinsFemaleRNA Long NoncodingRTL1as geneGenomic imprintingAmerican journal of medical genetics. Part A
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