Search results for "FUNCTIONAL"

showing 10 items of 4822 documents

Molecular and clinical characterization of a small duplication Xp in a human female with psychiatric disorders

2011

CGH techniques allow us to detect small duplications thatoccur in humans with phenotypic manifestations and demon-strate the importance of these duplications in the etiologyof neurodevelopmental impairment. As in the case of otherX-linked disorders, X-inactivation plays a major role in theclinical expression of such X chromosomal imbalances withusually milder symptoms in females than in males. Mostmale patients carrying Xp duplication have mental retarda-tion (X-linked mental retardation) and variable facial dys-morphic features (Gimelli

GeneticsChromosomes Human XComparative Genomic HybridizationMental Disordershuman geneticsBiologyPhenotypeHuman geneticspsychiatric disorderfunctional Xp disomySettore MED/38 - Pediatria Generale E SpecialisticaSettore MED/03 - Genetica MedicaX Chromosome InactivationChild PreschoolGene duplicationChromosome DuplicationGeneticsMental Retardation X-LinkedHumansarray CGHFemaleChildfunctional Xp disomy; array CGH; psychiatric disorders; human geneticsGenetic Association StudiesSex Chromosome Aberrations
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Functional analysis of 12 ORFs fromSaccharomyces cerevisiae chromosome II

1999

Twelve different ORFs have been deleted from the right arm of Saccharomyces cerevisiae chromosome II; namely YBR193c, YBR194w, YBR197c, YBR198c, YBR201w, YBR203w, YBR207w, YBR209w, YBR210w, YBR211c, YBR217w and YBR228w. Tetrad analysis of heterozygous deletant strains revealed that YBR193c, YBR198c and YBR211c are essential genes for vegetative growth. No effects were detected in any of the haploid deletion mutants for the rest of the ORFs with respect to growth, gross morphology or mating.

GeneticsFunctional analysisbiologySaccharomyces cerevisiaeChromosomeBioengineeringbiology.organism_classificationApplied Microbiology and BiotechnologyBiochemistryGeneticsORFSPloidyTetradGeneFunctional genomicsBiotechnologyYeast
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Epistasis between new mutations and genetic background and a test of genetic canalization.

2001

The importance for fitness of epistatic interactions among mutations is poorly known, yet epistasis can exert important effects on the dynamics of evolving populations. We showed previously that epistatic interactions are common between pairs of random insertion mutations in the bacterium Escherichia coli. In this paper, we examine interactions between these mutations and other mutations by transducing each of twelve insertion mutations into two genetic backgrounds, one ancestral and the other having evolved in, and adapted to, a defined laboratory environment for 10,000 generations. To assess the effect of the mutation on fitness, we allowed each mutant to compete against its unmutated cou…

GeneticsMutationGenotypeMutantEpistasis and functional genomicsEpistasis GeneticBiologymedicine.disease_causePositive correlationEvolution MolecularMutagenesis InsertionalEvolutionary biologyTransduction GeneticMutationmedicineGeneticsEscherichia coliEpistasisGeneral Agricultural and Biological SciencesEscherichia coliEcology Evolution Behavior and SystematicsEvolution; international journal of organic evolution
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Conserved and newly acquired roles of PIF1 homologs in tomato (Solanum lycopersicum)

2021

ABSTRACTPHYTOCHROME INTERACTING FACTORS (PIFs) are transcription factors that interact with the photoreceptors phytochromes and integrate multiple signaling pathways related to light, temperature, defense and hormone responses. PIFs have been extensively studied inArabidopsis thaliana, but less is known about their roles in other species. Here, we investigate the role of the two homologs of PIF1 found in tomato (Solanum lycopersicum), namely PIF1a and PIF1b. Analysis of gene expression showed very different patterns, indicating a potential evolutionary divergence in their roles. At the protein level, light regulated the stability of PIF1a, but not PIF1b, further supporting a functional dive…

GeneticsPhytochromeArabidopsisMutantfood and beveragesArabidopsis thalianaNeofunctionalizationBiologySolanumRoot hair elongationbiology.organism_classificationFunctional divergence
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Epistasis and the Adaptability of an RNA Virus

2005

Abstract We have explored the patterns of fitness recovery in the vesicular stomatitis RNA virus. We show that, in our experimental setting, reversions to the wild-type genotype were rare and fitness recovery was at least partially driven by compensatory mutations. We compared compensatory adaptation for genotypes carrying (1) mutations with varying deleterious fitness effects, (2) one or two deleterious mutations, and (3) pairs of mutations showing differences in the strength and sign of epistasis. In all cases, we found that the rate of fitness recovery and the proportion of reversions were positively affected by population size. Additionally, we observed that mutations with large fitness…

GeneticsPopulation DensityMutationAnalysis of VarianceGenotypeEpistasis and functional genomicsAdaptation BiologicalRNA virusEpistasis GeneticSequence Analysis DNAViral Plaque AssayBiologyInvestigationsbiology.organism_classificationmedicine.disease_causeVesicular stomatitis Indiana virusEvolution MolecularMutational meltdownGenotypeMutationGeneticsmedicineEpistasisMutation–selection balanceAdaptation
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Functional analysis of yeast gene families involved in metabolism of vitamins B1and B6

2002

In order to clarify their physiological functions, we have undertaken a characterization of the three-membered gene families SNZ1-3 and SNO1-3. In media lacking vitamin B(6), SNZ1 and SNO1 were both required for growth in certain conditions, but neither SNZ2, SNZ3, SNO2 nor SNO3 were required. Copies 2 and 3 of the gene products have, in spite of their extremely close sequence similarity, slightly different functions in the cell. We have also found that copies 2 and 3 are activated by the lack of thiamine and that the Snz proteins physically interact with the thiamine biosynthesis Thi5 protein family. Whereas copy 1 is required for conditions in which B(6) is essential for growth, copies 2 …

GeneticsProtein familyFunctional analysisSaccharomyces cerevisiaeBioengineeringMetabolismBiologybiology.organism_classificationApplied Microbiology and BiotechnologyBiochemistrychemistry.chemical_compoundBiochemistryBiosynthesischemistryGeneticsGene familyThiamineGeneBiotechnologyYeast
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The Role of Ancestral Duplicated Genes in Adaptation to Growth on Lactate, a Non-Fermentable Carbon Source for the Yeast Saccharomyces cerevisiae

2021

This article belongs to the Section Molecular Informatics.

GenomeInformationSystems_GENERALGene DuplicationGene Expression Regulation FungalGene duplicationComputingMilieux_COMPUTERSANDEDUCATIONPhenotypic responseRNA-SeqBiology (General)SpectroscopyGeneticsbiologyGene Expression Regulation DevelopmentalGeneral MedicineAdaptation PhysiologicalComputer Science ApplicationsChemistryMetabolic distanceWhole-genome duplicatesGenome FungalGlycolysisSmall-scale duplicatesSaccharomyces cerevisiae Proteinsphenotypic responseGeneralLiterature_INTRODUCTORYANDSURVEYQH301-705.5Saccharomyces cerevisiaesmall-scale duplicatesSaccharomyces cerevisiaeGeneralLiterature_MISCELLANEOUSArticleCatalysisEvolution MolecularInorganic ChemistryLactic AcidPhysical and Theoretical ChemistryQD1-999Molecular Biologymetabolic distanceAcidic stressacidic stressheat-shock proteinsGene Expression Profilingwhole-genome duplicatesOrganic ChemistryRobustness (evolution)biology.organism_classificationCarbonReactive oxygen responseYeastEvolvabilityGene OntologyHeat-shock proteinsAdaptationreactive oxygen responseFunctional divergenceInternational Journal of Molecular Sciences
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Is Spain a lumpy country? A dynamic analysis of the ‘lens condition’

2008

We implement the ‘lens condition’ of Deardoff (1994) to investigate whether lumpiness, an excessively uneven geographic distribution of production factors, is large enough to allow for regional specialization of production at different factor prices. Using data from 50 Spanish provinces over the period 1964 to 2001, we show that Spain evolved from being a lumpy economy to a state where lumpiness no longer mattered.

Geographic distributionEconomics and EconometricsEconomySpecialization (functional)Factor priceEconomicsFactors of productionLens (geology)Production (economics)Economic geographyApplied Economics Letters
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Commuting and local labour market areas in the Region of Valencia, Spain, 1991-2001

2007

En este trabajo se analiza la evolución de la movilidad residencia-trabajo en la Comunidad Valenciana entre 1991 y 2001 y se delimitan para ambos años los mercados locales de trabajo (MLT) valencianos mediante una variación del procedimiento empleado en el Reino Unido para la definición de las denominadas Travel-to-Work Areas. Esta regionalización permite superar el concepto administrativo de municipio/ciudad e identificar áreas funcionales coherentes con los nuevos modelos urbanos derivados del aumento generalizado de la movilidad de la población y el surgimiento de la ‘ciudad difusa’. This article deals with the evolution of commuting in the Region of Valencia, Spain, between 1991 and 200…

Geography (General)Local labour market areasCommutingCommuting ; Local labour market areas ; Functional areas ; Region of ValenciaÁreas funcionalesMovilidad residencia-trabajo (commuting) ; Mercados locales de trabajo ; Áreas funcionales ; Comunidad ValencianaMercados locales de trabajoEconomía AplicadaRegion of ValenciaFunctional areasValencia (Comunidad Autónoma)Environmental sciences:GEOGRAFÍA [UNESCO]:GEOGRAFÍA::Geografía humana ::Geografía social [UNESCO]Movilidad residencia-trabajo (commuting)G1-922GE1-350UNESCO::GEOGRAFÍA::Geografía humana ::Geografía socialComunidad ValencianaUNESCO::GEOGRAFÍA
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Use and misuse in the application of the phytoplankton functional classification: a critical review with updates

2008

Since its publication, the article ‘Towards a functional classification of the freshwater phytoplankton’ (Reynolds et al., J Plankton Res 24: 417–428, 2002), has attracted the attention of dozens of phytoplankton ecologists worldwide. These numerous applications of the functional classification to describe phytoplankton patterns in various aquatic ecosystems allowed the recognition of some uncertain features of this concept originating from various reasons. In this article, we attempt to facilitate the application of the functional classification, by providing a detailed description of the typical misplacements and by modifying some of the original habitat templates and species allocations.…

GeographyWater Framework DirectiveHabitatEcologyAquatic ecosystemEcology (disciplines)PhytoplanktonAquatic SciencePlanktonFunctional groups Codon Phytoplankton Water Framework DirectiveFunctional group (ecology)Hydrobiology
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