Search results for "gene family"

showing 10 items of 179 documents

Susceptibility to Heart Defects in Down Syndrome Is Associated with Single Nucleotide Polymorphisms in HAS 21 Interferon Receptor Cluster and VEGFA G…

2020

Background: Congenital heart defects (CHDs) are present in about 40&ndash

0301 basic medicineVEGFAAdultHeart Defects CongenitalMaleVascular Endothelial Growth Factor ADown syndromelcsh:QH426-470AdolescentChromosomes Human Pair 21Down syndromeSNPSingle-nucleotide polymorphismBiologyPolymorphism Single NucleotideArticle03 medical and health sciencesHeart disorder0302 clinical medicineGenotypeGeneticsmedicineHumansGeneGenetics (clinical)IFNRReceptors InterferonGeneticsmedicine.diseasePhenotypeHeart defectlcsh:GeneticsVascular endothelial growth factor A030104 developmental biologySettore MED/03 - Genetica Medica030220 oncology & carcinogenesisMultigene Familyheart defectsFemaleChromosome 21SNPsGenes
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Characterization of Translationally Controlled Tumour Protein from the Sea Anemone Anemonia viridis and Transcriptome Wide Identification of Cnidaria…

2018

Gene family encoding translationally controlled tumour protein (TCTP) is defined as highly conserved among organisms; however, there is limited knowledge of non-bilateria. In this study, the first TCTP homologue from anthozoan was characterised in the Mediterranean Sea anemone, Anemonia viridis. The release of the genome sequence of Acropora digitifera, Exaiptasia pallida, Nematostella vectensis and Hydra vulgaris enabled a comprehensive study of the molecular evolution of TCTP family among cnidarians. A comparison among TCTP members from Cnidaria and Bilateria showed conserved intron exon organization, evolutionary conserved TCTP signatures and 3D protein structure. The pattern of mRNA exp…

0301 basic medicinefood.ingredientlcsh:QH426-470Settore BIO/11 - Biologia MolecolareNematostellacomparative genomicsCnidarianSea anemonetranscriptome wide analysisTCTPArticleAnemoniacnidarianstranslationally controlled tumour proteinTranscriptome03 medical and health sciencesTCTPsfoodGeneticComparative genomicGeneticsGene familyhomology modellingGenetics (clinical)Comparative genomicsbiologyAnemonebiology.organism_classificationCell biologycnidarians; transcriptome wide analysis; translationally controlled tumour protein; TCTPs; comparative genomics; homology modelling; gene expressionTranscriptome wide analysilcsh:Genetics030104 developmental biologygene expressionbiology.proteinTranslationally controlled tumour proteinCnidarians; Comparative genomics; Gene expression; Homology modelling; TCTPs; Transcriptome wide analysis; Translationally controlled tumour protein; Genetics; Genetics (clinical)Genes
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The swinholide biosynthesis gene cluster from a terrestrial cyanobacterium, Nostoc sp. strain UHCC 0450

2017

ABSTRACT Swinholides are 42-carbon ring polyketides with a 2-fold axis of symmetry. They are potent cytotoxins that disrupt the actin cytoskeleton. Swinholides were discovered from the marine sponge Theonella sp. and were long suspected to be produced by symbiotic bacteria. Misakinolide, a structural variant of swinholide, was recently demonstrated to be the product of a symbiotic heterotrophic proteobacterium. Here, we report the production of swinholide A by an axenic strain of the terrestrial cyanobacterium Nostoc sp. strain UHCC 0450. We located the 85-kb trans -AT polyketide synthase (PKS) swinholide biosynthesis gene cluster from a draft genome of Nostoc sp. UHCC 0450. The swinholide …

0301 basic medicinemarine environmentterrestrial environmentDIVERSITYcyanobacteria01 natural sciencesApplied Microbiology and BiotechnologyBiochemistryTrans-AT PKSMARINE CYANOBACTERIAGene clusterEnvironmental MicrobiologyskeletonSPONGE THEONELLA-SWINHOEISpotlightAxenicNostocgene transfertoxinSwinholide1183 Plant biology microbiology virologyPhylogenychemistry.chemical_classificationEcologybiologyAnabaena sp.ChemistryAnabaenaHorizontal gene transferKetonesbacteriumenzyme activityphylogeneticsINSIGHTSBiochemistryMultigene Familyhorizontal gene transferscytophycinScandium compoundspolyketidesBiotechnologyNostoctrans-AT PKSScytophycinNONRIBOSOMAL PEPTIDEBiosynthesisCyanobacteriaswinholideCYTOTOXIC DIMERIC MACROLIDES03 medical and health sciencesPolyketideBacterial ProteinsNonribosomal peptidecyanobacteriumPolyketide synthaseProteobacteriaCONGENERSCandidatus Entotheonellabovine spongiform encephalopathygeneNostoc sp.Bacteriacatalysis010405 organic chemistryProteinsSequence Analysis DNAbiology.organism_classificationActin cytoskeletonAnabaenaEVOLUTION"Candidatus Entotheonella"0104 chemical sciencesenzymeNATURAL-PRODUCT DISCOVERY030104 developmental biologyGenesPolyketidesbiology.proteingene expressionbacteria“Candidatus Entotheonella”Theonella sp.Marine ToxinsPolyketide SynthasesFood Sciencecatalyst
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A Two-Component regulatory system with opposite effects on glycopeptide antibiotic biosynthesis and resistance

2020

AbstractThe glycopeptide A40926, produced by the actinomycete Nonomuraea gerenzanensis, is the precursor of dalbavancin, a second-generation glycopeptide antibiotic approved for clinical use in the USA and Europe in 2014 and 2015, respectively. The final product of the biosynthetic pathway is an O-acetylated form of A40926 (acA40926). Glycopeptide biosynthesis in N. gerenzanensis is dependent upon the dbv gene cluster that encodes, in addition to the two essential positive regulators Dbv3 and Dbv4, the putative members of a two-component signal transduction system, specifically the response regulator Dbv6 and the sensor kinase Dbv22. The aim of this work was to assign a role to these two ge…

0301 basic medicinemedicine.drug_class030106 microbiologylcsh:MedicineGlycopeptide antibioticIndustrial microbiologyArticle03 medical and health sciencesBacterial ProteinsTranscription (biology)Genes RegulatorGene clustermedicinelcsh:ScienceGeneRegulator geneRegulation of gene expressionMultidisciplinaryAntimicrobialsChemistrylcsh:RGene Expression Regulation BacterialGlycopeptideAnti-Bacterial AgentsBiosynthetic PathwaysCell biologyActinobacteriaResponse regulator030104 developmental biologyMultigene FamilyTwo component regulatory system glycopeptide A40926 actinomycete Nonomuraea gerenzanensislcsh:QTeicoplaninMicrobial geneticsScientific Reports
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Genome Sequencing and Transcriptome Analysis Reveal Recent Species-specific Gene Duplications in the Plastic Gilthead Sea Bream

2019

AbstractGilthead sea bream is an economically important fish species that is remarkably well-adapted to farming and changing environments. Understanding the genomic basis of this plasticity will serve to orientate domestication and selective breeding towards more robust and efficient fish. To address this goal, a draft genome assembly was reconstructed combining short- and long-read high-throughput sequencing with genetic linkage maps. The assembled unmasked genome spans 1.24 Gb of an expected 1.59 Gb genome size with 932 scaffolds (∼732 Mb) anchored to 24 chromosomes that are available as a karyotype browser at www.nutrigroup-iats.org/seabreambrowser. Homology-based functional annotation, …

0303 health sciencesRetrotransposonBiologyGenomeDNA sequencing03 medical and health sciences0302 clinical medicineEvolutionary biologyGene family14. Life underwaterMobilomeGenome sizeGene030217 neurology & neurosurgery030304 developmental biologySynteny
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Inhibition of ATP-Binding Cassette Transporters by Chinese Herbs and Phytochemicals

2012

The gene family of ATP-binding cassette (ABC) transporters is widely distributed over the evolutionary tree of life from bacteria to man. In cancer, several ABC transporters are involved in the transport of anticancer drugs. This leads to the development of resistance to a broad spectrum of anticancer agents, termed multidrug resistance. An attractive strategy to overcome multidrug resistance is to block the transport function of ABC transporters leading to lethal intracellular concentrations of anticancer drugs. Efforts to identify transport inhibitors lead to a huge amount of chemical substances, none of which successfully passed clinical trials in cancer patients because of high toxicity…

Abcg2CancerATP-binding cassette transporterTransporterBiologymedicine.diseaseMultiple drug resistancechemistry.chemical_compoundchemistryBiochemistrymedicinebiology.proteinGene familyXenobioticFunction (biology)
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The role of IL-1 gene cluster in longevity: a study in Italian population.

2003

In this study, we analysed the polymorphic variants of IL-1alpha (C-T transition at position -889), IL-1beta (C-T transition at position -511) and IL-1 receptor antagonist (Ra) (86-bp repeated sequence in intron 2) in 1131 subjects (453 females and 678 males) from Northern and Central Italy, including 134 centenarians, to evaluate whether IL-1 cluster alleles might be differently represented in people selected for longevity. In addition, IL-1Ra and IL-1beta plasma levels were quantified by ELISA in 130 randomly selected subjects. No significant differences in the genotype and allele frequency distributions were observed between young, elderly and centenarian subjects. IL-1Ra plasma levels s…

AdultMaleAgingGenotypemedia_common.quotation_subjectLongevityBiologyGenetic determinismRandom AllocationGene FrequencyPolymorphism (computer science)Gene clusterGenotypeHumansAlleleAllele frequencymedia_commonAgedGeneticsAged 80 and overPolymorphism GeneticLongevityMiddle AgedItalyMultigene FamilyFemaleCentenarianDevelopmental BiologyInterleukin-1Mechanisms of ageing and development
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Risk gene variants for nicotine dependence in the CHRNA5-CHRNA3-CHRNB4 cluster are associated with cognitive performance

2010

Recent studies strongly support an association of the nicotinic acetylcholine receptor gene cluster CHRNA5-CHRNA3-CHRNB4 with nicotine dependence (ND). However, the precise genotype-phenotype relationship is still unknown. Clinical and epidemiological data on smoking behavior raise the possibility that the relevant gene variants may indirectly contribute to the development of ND by affecting cognitive performance in some smokers who consume nicotine for reasons of "cognition enhancement." Here, we tested seven single nucleotide polymorphisms (SNPs) rs684513, rs637137, rs16969968, rs578776, rs1051730, rs3743078, rs3813567 from the CHRNA5-CHRNA3-CHRNB4 gene cluster for association with ND, me…

AdultMaleRiskGenotypeGene ExpressionNerve Tissue ProteinsSingle-nucleotide polymorphismReceptors NicotinicBiologyBioinformaticsPolymorphism Single NucleotideNicotineCellular and Molecular NeuroscienceCognitionGene clustermedicineHumansGenetic Predisposition to DiseaseRNA MessengerRisk factorAlleleGenetic Association StudiesGenetics (clinical)AgedGeneticsChromosomes Human Pair 15Gene Expression ProfilingCHRNA5HaplotypeWechsler ScalesGenetic VariationCognitionTobacco Use DisorderMiddle AgedPsychiatry and Mental healthMultigene Familybiology.proteinFemalemedicine.drugAmerican Journal of Medical Genetics Part B: Neuropsychiatric Genetics
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Genetic variation of the interleukin-1 family and nongenetic factors determining the interleukin-1 receptor antagonist phenotypes.

2009

The natural anti-inflammatory protein interleukin-1 receptor antagonist (IL-1Ra) inhibits the activity of IL-1 and is associated with vascular injury and metabolic disorders. We analyzed genetic and nongenetic determinants of the IL-1Ra phenotype. Fifteen haplotype-tagging single nucleotide polymorphisms (SNPs) in the IL-1α (IL1A), IL-1β (IL1B), and IL-1 receptor antagonist (IL-1RN) genes were determined in the Health 2000 survey (n = 6771) and European myocardial infarction (MI) survivors (n = 972). Three SNPs were genotyped in the FINRISK97 (FR97) study (n = 7222). We found 3 IL1RN variants that were associated with the IL-1Ra phenotype in the study populations and remained significant af…

AdultMalemedicine.medical_specialtyEndocrinology Diabetes and MetabolismMyocardial InfarctionSingle-nucleotide polymorphism030204 cardiovascular system & hematologyBiologyPolymorphism Single Nucleotide03 medical and health sciences0302 clinical medicineEndocrinologyGene FrequencyMeta-Analysis as TopicInternal medicineGenetic variationmedicineHumansLongitudinal StudiesSurvivorsAllele frequency030304 developmental biologyAged2. Zero hungerGenetics0303 health sciencesGenetic VariationMiddle AgedExplained variation3. Good healthMinor allele frequencyInterleukin 1 Receptor Antagonist ProteinInterleukin 1 receptor antagonistEndocrinologyPhenotypeIL1AMultigene FamilyFemaleBody mass indexInterleukin-1Metabolism: clinical and experimental
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Genes involved in immune response/inflammation, IGF1/insulin pathway and response to oxidative stress play a major role in the genetics of human long…

2005

In this paper, we review data of recent literature on the distribution in centenarians of candidate germ-line polymorphisms that likely affect the individual chance to reach the extreme limit of human life. On the basis of previous observations on the immunology, endocrinology and cellular biology of centenarians we focused on genes that regulate immune responses and inflammation (IL-6, IL-1 cluster, IL-10), genes involved in the insulin/IGF-I signalling pathway and genes that counteract oxidative stress (PON1). On the whole, data indicate that polymorphisms of these genes likely contribute to human longevity, in accord with observations emerging from a variety of animal models, and suggest…

AdultSenescenceAgingCandidate geneGenotypemedia_common.quotation_subjectLongevityBiologyModels BiologicalGenomeImmune systemHumansInsulinInsulin-Like Growth Factor IGeneAgedmedia_commonAged 80 and overInflammationGeneticsPolymorphism GeneticAryldialkylphosphataseInterleukin-6Age FactorsImmunityLongevityHedgehog signaling pathwayInterleukin-10Oxidative StressMultigene FamilyFunction (biology)Interleukin-1Signal TransductionDevelopmental BiologyMechanisms of Ageing and Development
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