Search results for "Cloning"

showing 10 items of 498 documents

Apolipoprotein CI is a physiological regulator of cholesteryl ester transfer protein activity in human plasma but not in rabbit plasma

2009

Plasma cholesteryl ester transfer protein (CETP) activity is high in rabbits, intermediate in humans, and nondetectable in rodents. Human apolipoprotein CI (apoCI) was found to be a potent inhibitor of CETP. The aim of this study was to compare the ability of rabbit and human apoCI to modulate the interaction of CETP with HDLs and to evaluate to which extent apoCI contributes to plasma cholesteryl ester transfer rate in normolipidemic humans and rabbits. Rabbit apoCI gene was cloned and sequenced, rabbit and human apoCI were purified to homogeneity, and their ability to modify the surface charge properties and the CETP inhibitory potential of HDL were compared. It is demonstrated that unlik…

MaleApolipoprotein CIRegulatorQD415-436Biochemistrychemistry.chemical_compoundEndocrinologyCholesterylester transfer proteinAnimalsHumansAmino Acid SequenceCloning MolecularApolipoproteins CPeptide sequenceLipoprotein lipasebiologyChemistrylipoproteinCell BiologySequence Analysis DNAMiddle AgedCholesterol Ester Transfer Proteinsnormolipidemiacarbohydrates (lipids)Lipoprotein LipaseBiochemistrybiology.proteinCholesteryl esterlipids (amino acids peptides and proteins)FemaleRabbitsRabbit plasmaLipoproteins HDLLipoproteinelectrostatic chargeResearch Article
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Identification and characterization of PlAlix, the Alix homologue from the Mediterranean sea urchin Paracentrotus lividus.

2013

The sea urchin provides a relatively simple and tractable system for analyzing the early stages of embryo development. Here, we use the sea urchin species, Paracentrotus lividus, to investigate the role of Alix in key stages of embryogenesis, namely the egg fertilization and the first cleavage division. Alix is a multifunctional protein involved in different cellular processes including endocytic membrane trafficking, filamentous (F)-actin remodeling, and cytokinesis. Alix homologues have been identified in different metazoans; in these organisms, Alix is involved in oogenesis and in determination/differentiation events during embryo development. Herein, we describe the identification of th…

MaleBlastomeresanimal structuresDNA ComplementaryEmbryo Nonmammalian2-cell stage embryo; Alix/AIP1; F-actin; sea urchin embryoBlotting WesternMolecular Sequence DataParacentrotus lividusF-actinbiology.animalBotany2-cell stage embryoMediterranean SeaAnimalsAmino Acid SequenceCloning MolecularSea urchinPeptide sequenceActinsea urchin embryoMicroscopy ConfocalbiologySequence Homology Amino AcidReverse Transcriptase Polymerase Chain ReactionEmbryogenesisMicrofilament ProteinsGene Expression Regulation DevelopmentalEmbryoCell BiologySequence Analysis DNAbiology.organism_classificationAlix/AIP1Cell biologyCytoplasmFertilizationembryonic structuresParacentrotusFemaleCytokinesisDevelopmental Biology
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Association of a functional deficit of the BKCa channel, a synaptic regulator of neuronal excitability, with autism and mental retardation

2006

International audience; Objective: Autism is a complex, largely genetic psychiatric disorder. In the majority of cases, the cause of autism is not known, but there is strong evidence for a genetic etiology. To identify candidate genes, the physical mapping of balanced chromosomal aberrations is a powerful strategy, since several genes have been characterized in numerous disorders. In this study, the authors analyzed a balanced reciprocal translocation arising de novo in a subject with autism and mental retardation. Method: The authors performed the physical mapping of the balanced 9q23/ 10q22 translocation by fluorescent in situ hybridization experiments using bacterial artificial chromosom…

MaleCandidate geneChromosomes Artificial BacterialIndolesDNA Mutational AnalysisRegulatorChromosomal translocationautism mental retardation KCNMA1 genelarge conductance Ca(2+)-activated K(+) (BK(Ca)) channel synaptic transmission chromosomal translocationSynaptic TransmissionTranslocation GeneticPair 10CA2+-ACTIVATED K+ CHANNELSCloning MolecularChildLarge-Conductance Calcium-Activated Potassium Channel alpha SubunitsMUTATIONIn Situ HybridizationIn Situ Hybridization FluorescenceReverse Transcriptase Polymerase Chain ReactionBacterialChromosome MappingETIOLOGYPsychiatry and Mental healthArtificialKCNMA1 Gene[SDV.NEU]Life Sciences [q-bio]/Neurons and Cognition [q-bio.NC]HaploinsufficiencyPsychologyChromosomes Human Pair 9POTASSIUM CHANNELSHumanPair 9Autistic Disorder; Child; Chromosome Aberrations; Chromosome Mapping; Chromosomes; Artificial; Bacterial; Chromosomes; Human; Pair 10; Chromosomes; Human; Pair 9; Cloning; Molecular; DNA Mutational Analysis; Humans; In Situ Hybridization; Fluorescence; Indoles; Intellectual Disability; Large-Conductance Calcium-Activated Potassium Channel alpha Subunits; Male; Reverse Transcriptase Polymerase Chain Reaction; Synaptic Transmission; Translocation; GeneticTranslocationNeurotransmissionChromosomesFluorescenceGeneticIntellectual DisabilitymedicineHumansAutistic DisorderRELEASEChromosome AberrationsCOMPLEXChromosomes Human Pair 10MolecularAutistic Disorder; Child; Chromosome Aberrations; Chromosome Mapping; Chromosomes Artificial Bacterial; Chromosomes Human Pair 10; Chromosomes Human Pair 9; Cloning Molecular; DNA Mutational Analysis; Humans; In Situ Hybridization Fluorescence; Indoles; Intellectual Disability; Large-Conductance Calcium-Activated Potassium Channel alpha Subunits; Male; Reverse Transcriptase Polymerase Chain Reaction; Synaptic Transmission; Translocation GeneticPERVASIVE DEVELOPMENTAL DISORDERSmedicine.diseaseDevelopmental disorderINDIVIDUALSLARGE-CONDUCTANCEAutismSCREENNeuroscience[SDV.MHEP]Life Sciences [q-bio]/Human health and pathologyCloning
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A single mutation alters production and discrimination of Drosophila sex pheromones

2005

0962-8452 (Print) Comparative Study Journal Article Research Support, Non-U.S. Gov't; The evolution of communication is a fundamental biological problem. The genetic control of the signal and its reception must be tightly coadapted, especially in inter-individual sexual communication. However, there is very little experimental evidence for tight genetic linkage connecting the emission of a signal and its reception. We found that a single genomic transposon inserted in the desatl gene of Drosophila melanogaster simultaneously affected the emission and the perception of sex-specific signals. This mutation greatly decreased the production of unsaturated hydrocarbons on the cuticle of mature fl…

MaleChromatographyMutation/geneticsBlottingHistocytochemistryMolecularGene ExpressionDNASex Attractants/*genetics/metabolismAnimal CommunicationDNA Transposable Elements/geneticsGene ComponentsFatty Acid Desaturases/*genetics/metabolismGasHydrocarbons/metabolismAnimalsDrosophila melanogaster/*geneticsFemaleSouthernSequence AnalysisCloning
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Conformational Change in the Pheromone-binding Protein fromBombyx mori Induced by pH and by Interaction with Membranes

1999

The pheromone-binding protein (PBP) from Bombyx mori was expressed in Escherichia coli periplasm. It specifically bound radiolabeled bombykol, the natural pheromone for this species. It appeared as a single band both in native and SDS-polyacrylamide gel electrophoresis and was also homogeneous in most chromatographic systems. However, in ion-exchange chromatography, multiple forms sometimes appeared. Attempts to separate them revealed that they could be converted into one another. Analysis of the protein by circular dichroism and fluorescence spectroscopy demonstrated that its tertiary structure was sensitive to pH changes and that a dramatic conformational transition occurred between pH 6.…

MaleConformational changeCircular dichroismSensory Receptor CellsProtein ConformationBiochemistryBombykolchemistry.chemical_compoundEscherichia coliAnimalsDenaturation (biochemistry)Pheromone bindingCloning MolecularMolecular BiologyChemistryCircular DichroismCell BiologyHydrogen-Ion ConcentrationBombyxChromatography Ion ExchangeLigand (biochemistry)Protein tertiary structureProtein Structure TertiarySpectrometry FluorescenceBiochemistryBiophysicsInsect ProteinsIntercellular Signaling Peptides and ProteinsThermodynamicsElectrophoresis Polyacrylamide GelCarrier ProteinsPheromone binding proteinJournal of Biological Chemistry
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Deficient membrane integration of the novel p.N14D-GJB2mutant associated with non-syndromic hearing impairment

2006

Mutations in GJB2, the gene encoding for the Gap Junction protein Connexin 26 (Cx26), have been established as the major cause of hereditary, non-syndromic hearing impairment (HI). We report here the identification of a novel point mutation in GJB2, c.40A>G [p.N14D], detected in compound heterozygosity with the c.35delG mutation in two brothers with moderate non-syndromic sensorineural HI. The mother who carried one wildtype and a p.N14D allele displayed normal hearing. The mutation leads to substitution of the neutral amino acid asparagine (N) by the negatively charged aspartic acid (D) at amino acid number 14, a position that is conserved among Cx26 of different organisms and among many o…

MaleDNA Mutational AnalysisMutantGene ExpressionConnexinIn Vitro TechniquesBiologymedicine.disease_causeCompound heterozygosityConnexinsXenopus laevisAspartic acidotorhinolaryngologic diseasesGeneticsmedicineAnimalsHumansCloning MolecularChildHearing LossGenetics (clinical)chemistry.chemical_classificationMutationPoint mutationCell MembraneWild typeGap JunctionsMolecular biologyPedigreeAmino acidConnexin 26Protein TransportchemistryChild PreschoolAntigens SurfaceMutationOocytesHuman Mutation
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The Drosophila Cystoblast Differentiation Factor, benign gonial cell neoplasm, Is Related to DExH-box Proteins and Interacts Genetically With bag-of-…

2000

Abstract Selection of asymmetric cell fates can involve both intrinsic and extrinsic factors. Previously we have identified the bag-of-marbles (bam) gene as an intrinsic factor for cystoblast fate in Drosophila germline cells and shown that it requires active product from the benign gonial cell neoplasm (bgcn) gene. Here we present the cloning and characterization of bgcn. The predicted Bgcn protein is related to the DExH-box family of RNA-dependent helicases but lacks critical residues for ATPase and helicase functions. Expression of the bgcn gene is extremely limited in ovaries but, significantly, bgcn mRNA is expressed in a very limited number of germline cells, including the stem cells.…

MaleDNA ComplementaryMolecular Sequence DataGermlineGeneticsProtein biosynthesisAnimalsDrosophila ProteinsAmino Acid SequenceRNA MessengerCloning MolecularPromoter Regions GeneticGeneAllelesGene LibraryCloningGeneticsModels GeneticSequence Homology Amino AcidbiologyDNA HelicasesHelicasePhenotypeEnhancer Elements GeneticGerm CellsPhenotypeProtein Biosynthesisbiology.proteinInsect ProteinsDrosophilaFemaleStem cellRNA HelicasesDrosophila ProteinResearch ArticleGenetics
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Rapid cloning of cDNA ends polymerase chain reaction of G-protein-coupled receptor kinase 6: an improved method to determine 5′- and 3′-cDNA ends

1999

Abstract Rapid cloning of 5′- and 3′-cDNA ends polymerase chain reaction (5′-/3′-RACE-PCR) is useful to determine unknown 5′- and 3′-cDNA termini. Even if the method can yield complete cDNA sequences within a couple of days, the RACE procedure bears some characteristic traps and often results in amplification of unspecific PCR-products. Here we used improved 5′- and 3′-RACE-PCR protocols to obtain the complete cDNA sequence of the G-protein-coupled receptor kinase 6 (GRK6) from a rat brain cDNA library. The use of an anchored oligo-(dT) 16 -V-primer in the cDNA synthesis, the addition of single-sided PCR steps prior to the RACE-PCRs and the optimization of the dA-tailing reaction conditions…

MaleDNA ComplementaryNerve Tissue ProteinsProtein Serine-Threonine KinasesBiologylaw.inventionRats Sprague-DawleyRapid amplification of cDNA endslawComplementary DNAAnimalsRNA MessengerCloning MolecularGenePolymerase chain reactionBrain ChemistryCloningMessenger RNAG protein-coupled receptor kinaseReverse Transcriptase Polymerase Chain ReactioncDNA libraryGeneral NeuroscienceReceptor Protein-Tyrosine KinasesG-Protein-Coupled Receptor KinasesMolecular biologyRatsCell biologyBrain Research Protocols
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Differential regulation by a peroxisome proliferator of the different multifunctional proteins in guinea pig: cDNA cloning of the guinea pig D-specif…

1998

After our previous report on the cloning of two cDNA species in guinea pig, both encoding the same hepatic 79 kDa multifunctional protein 1 (MFP-1) [Caira, Cherkaoui-Malki, Hoefler and Latruffe (1996) FEBS Lett. 378, 57-60], here we report the cloning of a cDNA encoding a second multifunctional peroxisomal protein (MFP-2) in guinea-pig liver. This 2356 nt cDNA encodes a protein of 735 residues (79.7 kDa) whose sequence shows 83% identity with rat MFP-2 [Dieuaide-Noubhani, Novikov, Baumgart, Vanhooren, Fransen, Goethals, Vandekerckhove, Van Veldhoven and Mannaerts (1996) Eur. J. Biochem. 240, 660-666]. In parallel, we studied the effect of ciprofibrate, a hypolipaemic agent also known as per…

MaleDNA ComplementaryTranscription GeneticGuinea PigsMolecular Sequence DataBiologyMicrobodiesBiochemistryEstradiol DehydrogenasesRats Sprague-DawleyGuinea pigClofibric AcidComplementary DNAGene expressionmedicineAnimalsAmino Acid SequenceRNA MessengerNorthern blotCloning MolecularEnoyl-CoA HydrataseMolecular BiologyHypolipidemic AgentsMessenger RNABase SequenceThiolaseFibric AcidsCell BiologyPeroxisomeMolecular biologyRatsGene Expression RegulationLiverBiochemistryCiprofibrateOxidoreductasesResearch Articlemedicine.drugBiochemical Journal
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The new gene DmX from Drosophila melanogaster encodes a novel WD-repeat protein

1998

DmX is a novel gene from Drosophila melanogaster located on the X chromosome in region 5D5/6-E1. The molecular analysis of the genomic and cDNA sequences of DmX shows that the gene spans appr. 16kb and displays a mosaic structure with 15 exons. The 12kb long DmX transcript is present in Drosophila embryos, larvae and adults of both sexes. The open reading frame of DmX encodes a novel WD-repeat protein, containing at least 30 WD-repeat units. WD-repeat proteins contain a conserved motif of approximately 40 amino acids (aa), usually ending with the dipeptide Trp-Asp (WD). Homologues of the DmX gene exist in other dipteran species, in Caenorhabditis elegans and human, revealing that DmX is an …

MaleDNA ComplementaryX ChromosomeTranscription GeneticMolecular Sequence DataGenes InsectOpen Reading FramesExonComplementary DNAGeneticsAnimalsDrosophila ProteinsAmino Acid SequenceRNA MessengerCloning MolecularPeptide sequenceGeneConserved SequenceX chromosomeCaenorhabditis elegansRepetitive Sequences Nucleic AcidGeneticsAspartic AcidbiologyTryptophanChromosome MappingGene Expression Regulation DevelopmentalSequence Analysis DNAGeneral Medicinebiology.organism_classificationOpen reading frameDrosophila melanogasterInsect ProteinsFemaleDrosophila melanogasterSequence AlignmentGene
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