Search results for "Amplicon"

showing 10 items of 53 documents

Host’s genetic background determines the outcome of reciprocal faecal transplantation on life-history traits and microbiome composition

2022

Abstract Background Microbes play a role in their host's fundamental ecological, chemical, and physiological processes. Host life-history traits from defence to growth are therefore determined not only by the abiotic environment and genotype but also by microbiota composition. However, the relative importance and interactive effects of these factors may vary between organisms. Such connections remain particularly elusive in Lepidoptera, which have been argued to lack a permanent microbiome and have microbiota primarily determined by their diet and environment. We tested the microbiome specificity and its influence on life-history traits of two colour genotypes of the wood tiger moth (Arctia…

11832 Microbiology and virologyGenotypegrowthgenotypeperhosetwood tiger mothGeneral MedicineGrowthkasvubacterial communitygenotyyppitäpläsiilikäsbakteeritLepidopteragutGutLong ampliconBacterial communitylong amplicon16S rRNAArctia plantaginisWood tiger moth
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NOseq: amplicon sequencing evaluation method for RNA m6A sites after chemical deamination

2020

Abstract Methods for the detection of m6A by RNA-Seq technologies are increasingly sought after. We here present NOseq, a method to detect m6A residues in defined amplicons by virtue of their resistance to chemical deamination, effected by nitrous acid. Partial deamination in NOseq affects all exocyclic amino groups present in nucleobases and thus also changes sequence information. The method uses a mapping algorithm specifically adapted to the sequence degeneration caused by deamination events. Thus, m6A sites with partial modification levels of ∼50% were detected in defined amplicons, and this threshold can be lowered to ∼10% by combination with m6A immunoprecipitation. NOseq faithfully d…

AdenosineSequence analysisAcademicSubjects/SCI00010Bisulfite sequencingDeaminationAdenosine/analogs & derivatives; Adenosine/analysis; Algorithms; Animals; Chromatography Liquid; Deamination; Drosophila melanogaster/genetics; HEK293 Cells; HeLa Cells; High-Throughput Nucleotide Sequencing/methods; Humans; RNA/chemistry; RNA Long Noncoding/chemistry; RNA Messenger/chemistry; RNA Ribosomal 18S/chemistry; Sequence Alignment; Sequence Analysis RNA/methods; Tandem Mass SpectrometrySequence alignmentComputational biologyBiology010402 general chemistry[SDV.BBM.BM] Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biology01 natural sciencesTranscriptome03 medical and health sciencesNarese/13Tandem Mass Spectrometry[SDV.BBM.GTP]Life Sciences [q-bio]/Biochemistry Molecular Biology/Genomics [q-bio.GN]GeneticsRNA Ribosomal 18SAnimalsHumansRNA MessengerComputingMilieux_MISCELLANEOUS030304 developmental biology0303 health sciencesSequence Analysis RNARNAHigh-Throughput Nucleotide Sequencing[SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biologyAmpliconRibosomal RNA0104 chemical sciencesDrosophila melanogasterHEK293 CellsDeaminationMethods OnlineRNA[SDV.BBM.GTP] Life Sciences [q-bio]/Biochemistry Molecular Biology/Genomics [q-bio.GN]RNA Long NoncodingSequence AlignmentAlgorithmsChromatography LiquidHeLa Cells
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Analysis of thiamine transporter genes in sporadic beriberi

2014

Abstract Objective Thiamine or vitamin B 1 deficiency diminishes thiamine-dependent enzymatic activity, alters mitochondrial function, impairs oxidative metabolism, and causes selective neuronal death. We analyzed for the first time, the role of all known mutations within three specific thiamine carrier genes, SLC19 A2, SLC19 A3 , and SLC25 A19 , in a patient with atrophic beriberi, a multiorgan nutritional disease caused by thiamine deficiency. Methods A 44-year-old male alcoholic patient from Morocco developed massive bilateral leg edema, a subacute sensorimotor neuropathy, and incontinence. Despite normal vitamin B 1 serum levels, his clinical picture was rapidly reverted by high-dose in…

AdultMalemedicine.medical_specialtySLC19 A- SLC25 A19SLC19 AEndocrinology Diabetes and MetabolismGene mutationBeriberimedicine.disease_causeMitochondrial Membrane Transport Proteinslaw.inventionBeriberilawInternal medicineGenotypemedicineThiamine transporterObjective: Thiamine or vitamin B1 deficiency diminishes thiamine-dependent enzymatic activity alters mitochondrial function impairs oxidative metabolism and causes selective neuronal death. We analyzed for the first time the role of all known mutations within three specific thiamine carrier genes SLC19 A2 SLC19 A3 and SLC25 A19 in a patient with atrophic beriberi a multiorgan nutritional disease caused by thiamine deficiency. Methods: A 44-year-old male alcoholic patient from Morocco developed massive bilateral leg edema a subacute sensorimotor neuropathy and incontinence. Despite normal vitamin B1 serum levels his clinical picture was rapidly reverted by high-dose intramuscular thiamine treatment suggesting a possible genetic resistance. We used polymerase chain reaction followed by amplicon sequencing to study all the known thiamine-related gene mutations identified within the Human Gene Mutation Database. Results: Thirty-seven mutations were tested: 29 in SLC19 A2 6 in SLC19 A3 and 2 in SLC25 A19. Mutational analyses showed a wild-type genotype for all sequences investigated. Conclusion: This is the first genetic study in beriberi disease. We did not detect any known mutation in any of the three genes in a sporadic dry beriberi patient. We cannot exclude a role for other known or unknown mutations in the same genes or in other thiamine-associated genes in the occurrence of this nutritional neuropathy.HumansThiamineGenePolymerase chain reactionGeneticsMutationNutrition and DieteticsbiologyMembrane Transport ProteinsThiamine Deficiencymedicine.diseaseAlcoholismEndocrinologyMutationbiology.proteinThiamineMutations
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Abstract 4107: Targeted re-sequencing of neuroblastoma tumors reveals chromosomal rearrangements that involve the Anaplastic Lymphoma Kinase (ALK) ge…

2013

Abstract Neuroblastoma (NBL) is a cancer of early childhood arising from the developing sympathetic nervous system. NBL tumors display a broad clinical and biological heterogeneity, ranging from highly aggressive tumors with fatal outcome to tumors with spontaneous regression. Recurrent mutations are mainly only observed in Anaplastic Lymphoma Kinase (ALK), which is involved in the pathogenesis of both familiar and sporadic NBL. ALK encodes a tyrosine kinase receptor with importance in neuronal development and was initially characterized in anaplastic large cell lymphoma from a translocation leading to the NPM-ALK fusion protein. Subsequent studies show that additional ALK chimeras have bee…

Cancer ResearchChromosomal translocationBiologyAmpliconmedicine.diseaseFusion proteinMolecular biologyExonOncologyhemic and lymphatic diseasesNeuroblastomamedicineAnaplastic lymphoma kinaseKinase activityAnaplastic large-cell lymphomaCancer Research
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Chimeric amplicons containing the c-myc gene in HL60 cells

1998

The major amplicon present in HL60 cells is chimeric in nature being composed of 70 kb of DNA sequence derived from the MYC locus linked to 80 kb of novel DNA sequence derived from a non contiguous region located telomeric to the c-myc gene at 8q24 (Feo et al., 1996). Here we show by fluorescence in situ hybridization (FISH) that these coamplified sequences, MCR (Myc Coamplified Region), are derived from a locus located 3-4 Mb telomeric to the c-myc gene in the q24.2-24.3 region of chromosome 8. Genomic cloning and Southern blot analysis indicate the arrangement of chimeric amplicons are in tandem arrays. Analysis of the DNA sequences at the juncture of the MYC locus and the MCR suggest tha…

Cancer ResearchOncogene Proteins FusionInverted repeatMolecular Sequence DataGenes mycHL-60 CellsLocus (genetics)BiologyMolecular cloningDNA sequencingLeukemia Promyelocytic AcuteGene mappingGeneticsHumansCloning MolecularMolecular BiologyGeneIn Situ Hybridization FluorescenceSouthern blotChromosome AberrationsRecombination GeneticGeneticsBase SequenceChromosome FragilityGene AmplificationSequence Analysis DNAAmpliconMolecular biologyBlotting SouthernChromosomes Human Pair 8Oncogene
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Abstract 495: Amplification of chromosomal regions 12q13-14 and 12q15 defines a distinct subgroup of high-risk neuroblastoma patients and is associat…

2015

Abstract Neuroblastoma is a pediatric cancer of the sympathetic nervous system with wide heterogeneity regarding clinobiological subtypes, ranging from patients with tumors of spontaneous regression to patients with aggressive tumors with fatal outcome despite multimodal treatment. MYCN-amplification and 11q-deletion are important, although incomplete, markers of high-risk neuroblastoma. Thus, characterization of additional genomic alterations that can be used as prognostic and/or predictive markers is of clinical importance in order to provide best possible treatment. From genomic profiles generated through high-density SNP microarrays we identified a group of neuroblastomas (14 primary tu…

Cancer ResearchPathologymedicine.medical_specialtymedicine.medical_treatmentCancerBiologyAmpliconmedicine.diseasePediatric cancerTargeted therapyOncologyNeuroblastomaChromosomal regionCancer researchmedicineneoplasmsChromosome 12Exome sequencingCancer Research
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A multiplex assay with 52 single nucleotide polymorphisms for human identification.

2006

A total of 52 SNPs reported to be polymorphic in European, Asian and African populations were selected. Of these, 42 were from the distal regions of each autosome (except chromosome 19). Nearly all selected SNPs were located at least 100 kb distant from known genes and commonly used STRs. We established a highly sensitive and reproducible SNP-typing method with amplification of all 52 DNA fragments in one PCR reaction followed by detection of the SNPs with two single base extension reactions analysed using CE. The amplicons ranged from 59 to 115 bp in length. Complete SNP profiles were obtained from 500 pg DNA. The 52 loci were efficiently amplified from degraded samples where previously on…

Clinical BiochemistryPopulationSingle-nucleotide polymorphismPaternityBiologyBiochemistryPolymerase Chain ReactionPolymorphism Single NucleotideAnalytical Chemistrylaw.inventionGene FrequencylawMultiplex polymerase chain reactionHumanseducationAllele frequencyPolymerase chain reactionDNA PrimersGeneticseducation.field_of_studyAutosomeRacial GroupsSequence Analysis DNAAmpliconForensic MedicineSingle-base extensionDNA FingerprintingElectrophoresis
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PVAmpliconFinder: a workflow for the identification of human papillomaviruses from high-throughput amplicon sequencing

2019

Abstract Background The detection of known human papillomaviruses (PVs) from targeted wet-lab approaches has traditionally used PCR-based methods coupled with Sanger sequencing. With the introduction of next-generation sequencing (NGS), these approaches can be revisited to integrate the sequencing power of NGS. Although computational tools have been developed for metagenomic approaches to search for known or novel viruses in NGS data, no appropriate tool is available for the classification and identification of novel viral sequences from data produced by amplicon-based methods. Results We have developed PVAmpliconFinder, a data analysis workflow designed to rapidly identify and classify kno…

Computer scienceComputational biologylcsh:Computer applications to medicine. Medical informaticsBiochemistryWorkflowUser-Computer Interface03 medical and health sciencessymbols.namesakeStructural BiologyHumansVirus discoverylcsh:QH301-705.5PapillomaviridaeMolecular BiologyThroughput (business)PhylogenyAmplicon sequencing030304 developmental biologySanger sequencing0303 health sciencesBiological data030306 microbiologyMethodology ArticleApplied MathematicsHigh-Throughput Nucleotide SequencingPapillomavirusAmpliconComputer Science ApplicationsIdentification (information)Workflowlcsh:Biology (General)MetagenomicsDNA ViralAmplicon sequencingsymbolslcsh:R858-859.7Primer (molecular biology)DNA microarrayBMC Bioinformatics
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The molecular characterization of a depurinated trial DNA sample can be a model to understand the reliability of the results in forensic genetics

2014

The role of DNA damage in PCR processivity/fidelity is a relevant topic in molecular investigation of aged/forensic samples. In order to reproduce one of the most common lesions occurring in postmortem tissues, a new protocol based on aqueous hydrolysis of the DNA was developed in vitro. Twenty-five forensic laboratories were then provided with 3.0 μg of a trial sample (TS) exhibiting, in mean, the loss of 1 base of 20, and a molecular weight below 300 bp. Each participating laboratory could freely choose any combination of methods, leading to the quantification and to the definition of the STR profile of the TS, through the documentation of each step of the analytical approaches selected. …

DNA depurination; Forensic genetics; PCR fidelity; STR typing; Biochemistry; Clinical BiochemistryPCR fidelityGenotyping TechniquesDNA damageSample (material)Clinical BiochemistryDNA depurinationReproducibility of ResultForensic geneticsBiologyPolymerase Chain ReactionBiochemistryNOAnalytical Chemistrylaw.inventionDNA depurination; PCR fidelity; STR typing; forensic genetics.Settore MED/43 - Medicina LegalelawSettore BIO/13 - Biologia ApplicataGenotypeHumansSTR typingGenotyping TechniquesPolymerase chain reactionProtocol (science)GeneticsMedicine (all)Reproducibility of ResultsForensic geneticDNAAmpliconDNA FingerprintingDNA depurination; Forensic genetics; PCR fidelity; STR typingSettore BIO/18 - GeneticaDNA depurination Forensic genetics PCR fidelity STR typingDNA profilingSettore MED/03 - Genetica MedicaMicrosatellite RepeatGenotyping TechniqueDNA depurination; Forensic genetics; PCR fidelity; STR typing;Microsatellite RepeatsHuman
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A single primer pair gives a specific ortholog amplicon in a wide range of Cyanobacteria and plastid-bearing organisms: applicability in inventory of…

2010

The scarcity of universally applied molecular markers for algae has resulted in the development of multiple, independent and not easily comparable systems. The goal of this work is to increase the number of available molecular markers and to generate easily comparable systems. Thereby, we have designed a primer pair capable of amplifying a broad range of organisms: Cyanobacteria, Chlorophyta, Chlorarachniophyta, Cryptophyta, Euglenida, Glaucophyta, Rhodophyta, Stramenopiles and Streptophyta including plants. This primer pair can amplify a portion of the 23S rRNA gene with sufficient variability to identify reference material form collections across a broad range of taxa and perform phylogen…

DNA BacterialDNA PlantGlaucophytaCyanobacteriaPhylogeneticsChlorophytaGeneticsCryptophytaGlaucophytaPlastidsPlastidMolecular BiologyEcology Evolution Behavior and SystematicsPhylogenyDNA PrimersGeneticsPhylogenetic treebiologyStreptophytaSequence Analysis DNARibosomal RNAAmpliconbiology.organism_classificationRNA Ribosomal 23SEvolutionary biologyRhodophytaStreptophytaStramenopilesMolecular phylogenetics and evolution
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