Search results for " Intron"

showing 10 items of 20 documents

Dynamic evolution of mitochondrial genomes in Trebouxiophyceae, including the first completely assembled mtDNA from a lichen-symbiont microalga (Treb…

2019

AbstractTrebouxiophyceae (Chlorophyta) is a species-rich class of green algae with a remarkable morphological and ecological diversity. Currently, there are a few completely sequenced mitochondrial genomes (mtDNA) from diverse Trebouxiophyceae but none from lichen symbionts. Here, we report the mitochondrial genome sequence of Trebouxia sp. TR9 as the first complete mtDNA sequence available for a lichen-symbiont microalga. A comparative study of the mitochondrial genome of Trebouxia sp. TR9 with other chlorophytes showed important organizational changes, even between closely related taxa. The most remarkable change is the enlargement of the genome in certain Trebouxiophyceae, which is princ…

0301 basic medicinePrasiolalesTrebouxiaMitochondrial DNALichensEvolutionlcsh:MedicineBiologyDNA MitochondrialGenomeArticleEvolution MolecularOpen Reading Frames03 medical and health sciences0302 clinical medicineIntergenic regionSpecies SpecificityChlorophytaPhylogeneticsMicroalgaelcsh:SciencePhylogenyMultidisciplinaryTrebouxiophyceaelcsh:RSequence Analysis DNAGroup II intronbiology.organism_classificationIntrons030104 developmental biologyTandem Repeat SequencesEvolutionary biologyGenome Mitochondriallcsh:QPlant sciences030217 neurology & neurosurgeryScientific Reports
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A PATIENT WITH FRONTOTEMPORAL DEMENTIA (FTD) AND MOTOR NEURON DISEASE (MND) CARRYING THE INTRON10+29 SUBSTITUTION IN MAPT

2008

FTD - MNDFTD ALS intronic mutation
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A variable intron distribution in globin genes of Chironomus: evidence for recent intron gain

1998

The intron positions found in globin genes of plants, protozoa and invertebrates have been interpreted as evidence for a three-intron-four-exon structure of the ancestral globin gene. In particular, the so-called 'central' introns, which are not found in vertebrate globin genes but are present in a variety of invertebrate and plant species, have been used as an argument for an ancestral gene structure featuring three introns. We have analyzed the presence or absence of central introns in the Gb genes 2beta, 9 and 7A of various European and Australasian species of the insect Chironomus. We find unrelated central introns at different positions in some of the species investigated, while other …

GeneticsBase SequencebiologyMolecular Sequence DataGene ConversionIntronVertebrateExonsGeneral MedicineGroup II intronbiology.organism_classificationChironomidaeIntronsGlobinsEvolution MolecularExonSpecies SpecificityMolecular evolutionSequence Homology Nucleic Acidbiology.animalGeneticsAnimalsChironomusGene conversionGeneGene
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A chimeric ribozyme in Clostridium difficile combines features of group I introns and insertion elements

2002

CdlSt1, a DNA insertion of 1975 bp, was identified within tcdA-C34, the enterotoxin gene of the Clostridium difficile isolate C34. Located in the catalytic domain A1-C34, Cd/St1 combines features of two genetic elements. Within the first 434 nt structures characteristic for group I introns were found; encoding the two transposase-like proteins tlpA and tlpB nucleotides 435-1975 represent the remainder of a IS605-like insertion element. We show that the entire CdlSt1 is accurately spliced from tcdA-C34 primary transcripts and that purified TcdA-C34 toxin is of regular size and catalytic activity. A search for CdlSt1-related sequences demonstrates that the element is widespread in toxinogenic…

GeneticsOpen reading framebiologyRNA splicingIntronRibozymebiology.proteinInterrupted geneGroup I catalytic intronGroup II intronORFSMolecular BiologyMicrobiologyMolecular Microbiology
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Demonstration that the Group II Intron from the Clostridial Conjugative Transposon Tn5397 Undergoes Splicing In Vivo

2001

Previous work has identified the conjugative transposon Tn5397 from Clostridium difficile. This element was shown to contain a group II intron. Tn5397 can be conjugatively transferred from C. difficile to Bacillus subtilis. In this work we show that the intron is spliced in both these hosts and that nonspliced RNA is also present. We constructed a mutation in the open reading frame within the intron, and this prevented splicing but did not prevent the formation of the circular form of the conjugative transposon (the likely transposition intermediate) or decrease the frequency of intergeneric transfer of Tn5397. Therefore, the intron is spliced, but splicing is not required for conjugation o…

GeneticsTransposable elementMutationClostridioides difficileRNA SplicingIntronRNAGroup II intronBiologymedicine.disease_causeMicrobiologyIntronsTransposition (music)Open reading frameRNA BacterialConjugation GeneticRNA splicingmedicineDNA Transposable ElementsRNA MessengerMolecular BiologyPlasmids and TransposonsBacillus subtilis
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Intra-allelic variation in introns of the S13-RNase allele distinguishes sweet, wild and sour cherries

2010

The cherry (Prunus avium), a self-incompatible diploid species, and the sour cherry (Prunus cerasus), a self-incompatible or self-compatible allotetraploid species derived from P. avium and Prunus fruticosa, share several S-RNase alleles, including S13. An inactive form, S13° ,i s found in some sour cherries. Two (AT) microsatellites are associated with allele S13-RNase, one in the first intron and one in the second. Their length polymorphisms were studied in 14 sweet and 17 wild cherries (both P. avium) and in 42 sour cherries. Fluorescent primers amplifying each microsatellite were designed and amplification prod- ucts sized on an automated sequencer. Variants ranged from 247 to 273 bp fo…

GeneticsbiologyPrunus fruticosaIntronForestryHorticulturebiology.organism_classificationCherry Intra-allelic variation Intron Microsatellite S-RNasePrunus cerasusChromosomal crossoverSettore AGR/03 - Arboricoltura Generale E Coltivazioni ArboreePrunusstomatognathic systemSettore AGR/07 - Genetica AgrariaGeneticsMicrosatelliteAllelePloidyMolecular Biology
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Photosensitive Alternative Splicing of the Circadian Clock Gene timeless Is Population Specific in a Cold-Adapted Fly, Drosophila montana.

2018

To function properly, organisms must adjust their physiology, behavior and metabolism in response to a suite of varying environmental conditions. One of the central regulators of these changes is organisms' internal circadian clock, and recent evidence has suggested that the clock genes are also important in the regulation of seasonal adjustments. In particular, thermosensitive splicing of the core clock gene <i>timeless</i> in a cosmopolitan fly, <i>Drosophila melanogaster</i> , has implicated this gene to be involved in thermal adaptation. To further investigate this link we examined the splicing of <i>timeless</i> in a northern malt fly species, <i&…

LightmahlakärpäsettimelessGenes InsectInvestigationsphotoperiodalternative splicingDrosophila montanaCircadian Clocks3' Untranslated Regions/genetics; Adaptation Physiological/genetics; Alternative Splicing/genetics; Analysis of Variance; Animals; Base Sequence; Circadian Clocks/genetics; Cold Temperature; Drosophila/genetics; Drosophila/physiology; Drosophila Proteins/genetics; Drosophila Proteins/metabolism; Female; Genes Insect; Geography; Introns/genetics; Light; Mutation/genetics; Alternative splicing; Drosophila montana; light-dark cycle; temperature; timelessAnimalsDrosophila Proteins3' Untranslated RegionsvuorokausirytmisopeutuminenAnalysis of VariancegeenitBase SequenceGeographyfungitemperatureAdaptation PhysiologicalIntronsCold TemperatureAlternative Splicinglight-dark cyclepopulaatiogenetiikkaMutationDrosophilaFemalelämpötilaDrosophila Montana
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A functional analysis of ACP-20, an adult-specific cuticular protein gene from the beetle Tenebrio. Role of an intronic sequence in transcriptional a…

2004

0962-1075 (Print) Comparative Study Journal Article Research Support, Non-U.S. Gov't; A gene encoding the adult cuticular protein ACP-20 was isolated in Tenebrio. It consists of three exons interspersed by two introns, intron 1 interrupting the signal peptide. To understand the regulatory mechanisms of ACP-20 expression, ACP-20 promoter-luciferase reporter gene constructs were transfected into cultured pharate adult wing epidermis. Transfection assays needed the presence of 20-hydroxyecdysone, confirming that ACP-20 is up-regulated by ecdysteroids. Analysis of 5' deletion constructs revealed that three regions are necessary for high levels of transcription. Interaction experiments between i…

MESH : Molecular Sequence Data[ SDV.AEN ] Life Sciences [q-bio]/Food and NutritionMESH : Genes Reporter/physiologyMESH : Transcriptional Activation/geneticsMESH : Introns/geneticsPromoter Regions (Genetics)/drug effects/physiologyExon0302 clinical medicineGenes ReporterTranscriptional regulationTrans-Activation (Genetics)/genetics/*physiologyMESH : Tenebrio/geneticsLuciferasesPromoter Regions GeneticTenebrioPeptide sequenceMESH : Metamorphosis Biological/geneticsComputingMilieux_MISCELLANEOUS0303 health sciencesMESH : Amino Acid SequenceMetamorphosis BiologicalMESH : Luciferases/metabolismEcdysone/metabolism/pharmacology3. Good healthInsect ProteinsMESH : TransfectionSequence AnalysisSignal peptideTranscriptional ActivationEcdysoneanimal structuresSequence analysisMolecular Sequence DataMESH : Transcriptional Activation/physiologyReporter/physiologyBiological/genetics/*physiologyMESH : Insect Proteins/physiologyBiologyLuciferases/metabolismTransfectionTenebrio/*genetics/physiologyMESH : Ecdysone/pharmacology03 medical and health sciencesGeneticsAnimalsAmino Acid Sequence[ SDV.BDD ] Life Sciences [q-bio]/Development BiologyMolecular BiologyGeneMESH : Introns/physiology030304 developmental biologyGene LibraryMESH : Metamorphosis Biological/physiologyReporter gene[SDV.GEN.GPO]Life Sciences [q-bio]/Genetics/Populations and Evolution [q-bio.PE]Base SequenceMetamorphosisIntronIntrons/genetics/physiologyMESH : Ecdysone/metabolismSequence Analysis DNADNAMESH : Gene LibraryMolecular biologyIntronsGenesMESH : Tenebrio/physiologyEpidermis/metabolism Gene LibraryInsect ScienceMESH : Insect Proteins/geneticsMESH : Epidermis/metabolismMESH : Base SequenceMESH : AnimalsEpidermisMESH : Promoter Regions Genetic/drug effects[SDE.BE]Environmental Sciences/Biodiversity and EcologyInsect Proteins/*genetics/*physiology030217 neurology & neurosurgeryEpidermis/metabolismMESH : Promoter Regions Genetic/physiologyMESH : Sequence Analysis DNA
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Friedreich's Ataxia: Autosomal Recessive Disease Caused by an Intronic GAA Triplet Repeat Expansion

1996

International audience; Friedreich's ataxia (FRDA) is an autosomal recessive, degenerative disease that involves the central and peripheral nervous systems and the heart. A gene, X25, was identified in the critical region for the FRDA locus on chromosome 9q13. This gene encodes a 210-amino acid protein, frataxin, that has homologs in distant species such as Caenorhabditis elegans and yeast. A few FRDA patients were found to have point mutations in X25, but the majority were homozygous for an unstable GAA trinucleotide expansion in the first X25 intron.

MaleIron-sulfur cluster assemblyPolymerase Chain Reaction0302 clinical medicineTrinucleotide RepeatsIron-Binding ProteinsGenetics0303 health sciencesMultidisciplinaryAutosomal recessive cerebellar ataxiaPedigree3. Good healthFemalemedicine.symptomChromosomes Human Pair 9HumanPair 9Heterozygotecongenital hereditary and neonatal diseases and abnormalitiesAtaxiaMolecular Sequence DataGenes RecessiveLocus (genetics)BiologyChromosomes03 medical and health sciencesGene mappingAlleles; Amino Acid Sequence; Base Sequence; Chromosomes Human Pair 9; DNA Primers; Female; Friedreich Ataxia; Genes Recessive; Heterozygote; Humans; Male; Molecular Sequence Data; Pedigree; Point Mutation; Polymerase Chain Reaction; Proteins; Sequence Alignment; Introns; Iron-Binding Proteins; Trinucleotide RepeatsmedicineRecessiveHumansPoint MutationAmino Acid SequenceAlleleAllelesDNA Primers030304 developmental biologyBase SequencePoint mutationProteins[SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry Molecular Biology/Molecular biologymedicine.diseaseMolecular biologyIntronsGenes[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsFriedreich AtaxiaFrataxinbiology.proteinSequence Alignment030217 neurology & neurosurgeryScience
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Alternative splicing of SMPD1 in human sepsis.

2015

Acid sphingomyelinase (ASM or sphingomyelin phosphodiesterase, SMPD) activity engages a critical role for regulation of immune response and development of organ failure in critically ill patients. Beside genetic variation in the human gene encoding ASM (SMPD1), alternative splicing of the mRNA is involved in regulation of enzymatic activity. Here we show that the patterns of alternatively spliced SMPD1 transcripts are significantly different in patients with systemic inflammatory response syndrome and severe sepsis/septic shock compared to control subjects allowing discrimination of respective disease entity. The different splicing patterns might contribute to the better understanding of th…

Malelcsh:MedicineWhite blood cells ; Sequence analysis ; Messenger RNA ; Enzyme regulation ; Sepsis ; Introns ; Systematic inflammatory response syndrome ; Alternative splicingBiologySphingomyelin phosphodiesteraseSepsisSepsismedicineLeukocytesHumanslcsh:ScienceAgedMultidisciplinarySeptic shockAlternative splicinglcsh:RIntronMiddle Agedmedicine.diseaseSystemic inflammatory response syndromeIsoenzymesAlternative SplicingSphingomyelin PhosphodiesteraseCase-Control StudiesImmunologyRNA splicinglcsh:QFemaleAcid sphingomyelinasemedicine.drugResearch ArticlePloS one
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