Search results for "CpG Island"

showing 6 items of 66 documents

Germline correction of an epimutation related to Silver-Russell syndrome.

2015

Like genetic mutations, DNA methylation anomalies or epimutations can disrupt gene expression and lead to human diseases. However, unlike genetic mutations, epimutations can in theory be reverted through developmental epigenetic reprograming, which should limit their transmission across generations. Following the request for a parental project of a patient diagnosed with Silver-Russell syndrome (SRS), and the availability of both somatic and spermatozoa DNA from the proband and his father, we had the exceptional opportunity to evaluate the question of inheritance of an epimutation. We provide here for the first time evidence for efficient reversion of a constitutive epimutation in the sperm…

ProbandAdultMaleGenetic counselingRussell-Silver SyndromeBiologymedicine.disease_causeGermlineEpigenesis GeneticGenomic ImprintingGene OrderGeneticsmedicineHumansExomeEpigeneticsPromoter Regions GeneticMolecular BiologyGenetics (clinical)GeneticsMutationSilver–Russell syndromeHigh-Throughput Nucleotide SequencingGeneral MedicineDNA Methylationmedicine.diseaseSilver-Russell SyndromeGerm CellsPhenotypeGene Expression RegulationGenetic LociDNA methylationCpG IslandsFemaleRNA Long NoncodingHuman molecular genetics
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Metilazione del DNA in artrite reumatoide

2005

Lo stato di metilazione del DNA genomico e del gene PTHrP è stato valutato con tecniche molecolari e citogenetiche in artrite reumatoide (AR), patologia autoimmune caratterizzata anche da alta incidenza di linfomi e da ipercalcemia per overespressione del gene PTHrP. La metilazione del DNA, infatti, ha un ruolo critico nello sviluppo delle malattie neoplastiche; il gene PTHrP avendo tre promotori uno dei quali contiene un’isola CpG è un buon candidato per la deregolazione da alterato pattern di metilazione locale. Le indagini sulla metilazione genomica, condotte su DNA estratto da sangue periferico di pazienti e di donatori e amplificato in reazioni di Methylation-Sensitive Arbitrarily Prim…

Settore BIO/18 - Geneticainstead chromosomes of controls were almost uniformly decorated by brilliant grains. Studies on methylation of PTHrP gene promoter 2 performed on five CpG island internal sites using the Methylation-Sensitive Restriction Endonuclease Multiplex (MSREM)-PCR showed that one of the sites nearest the trascription starting point is heavy methylated in a significantly high number of RA patients. Thus RA seems to be characterized by genomewide hypomethylation associated with local hypermethylation like the most part of tumors. This result raises the possibility that susceptibility to lymphomas is related to abnormal DNA methylation levels and suggests the opportunity to evaluate the DNA methylation status in RA patientin fact the demethylating therapies together with diet and life style can act towards an increase of tumor risk. Future studies using a larger number of subjects could confirm these findings.Rheumatoid Arthritis (RA) is a chronic multisystem inflammatory disease characterized by high recurrence of lymphomas as well as hypercalcemia due to PTHrP overexpression. Because of DNA methylation plays a critical role in development of neoplasias we determined in RA patients the global DNA methylation status and local methylation pattern of the CpG island of one of the three promoters of PTHrP gene utilizing molecular and cytogenetic techniques. Investigations performed on DNA from peripheral blood of patients and donors amplified by Methylation-Sensitive Arbitrarily Primed (MeS-AP)-PCR indicated that RA is strongly associated with global DNA hypomethylation. Similarly chromosomal DNA methylation pattern analysis by indirect immunofluorescence technique with anti 5-methylcitosine antibody showed all peripheral lymphocyte metaphases from RA patients with chromosomes weakly fluorescent without discrete grain
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Enhanced dendritic cell maturation by TNF-alpha or cytidine-phosphate-guanosine DNA drives T cell activation in vitro and therapeutic anti-tumor immu…

2000

Abstract Dendritic cells (DC) manipulated ex vivo can induce tumor immunity in experimental murine tumor models. To improve DC-based tumor vaccination, we studied whether DC maturation affects the T cell-activating potential in vitro and the induction of tumor immunity in vivo. Maturation of murine bone marrow-derived DC was induced by GM-CSF plus IL-4 alone or by further addition of TNF-α or a cytidine-phosphate-guanosine (CpG)-containing oligonucleotide (ODN-1826), which mimics the immunostimulatory effect of bacterial DNA. Flow cytometric analysis of costimulatory molecules and MHC class II showed that DC maturation was stimulated most by ODN-1826, whereas TNF-α had an intermediate effec…

T cellT-LymphocytesImmunologyAntineoplastic AgentsCell CommunicationBiologyLymphocyte ActivationImmunotherapy AdoptiveMiceImmune systemAdjuvants ImmunologicIn vivomedicineTumor Cells CulturedImmunology and AllergyAnimalsInterleukin 4Cells CulturedMice Inbred BALB CTumor Necrosis Factor-alphaCell DifferentiationDendritic cellDendritic CellsMolecular biologyInterleukin-12Coculture TechniquesGrowth InhibitorsMice Inbred C57BLmedicine.anatomical_structureOligodeoxyribonucleotidesColonic NeoplasmsInterleukin 12Cancer researchTumor necrosis factor alphaCpG IslandsFemaleInterleukin-4Ex vivoNeoplasm TransplantationJournal of immunology (Baltimore, Md. : 1950)
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Efficient homologous prime-boost strategies for T cell vaccination based on virus-like particles.

2005

Induction of high frequencies of specific T cells by vaccination requires prime-boost regimens. To reach optimal immune responses, it is necessary to use different vectors for priming and boosting as e.g. DNA vaccination followed by boosting with a recombinant viral vector. Here, we show that vaccines based on virus-like particles (VLP) displaying peptide epitopes are equally effective to induce CTL responses if used in a homologous or heterologous prime-boost setting. Strikingly, high frequencies (>20% of CD8(+) cells) of protective CTL could be induced and maintained by weekly injection of VLP. Thus, the use of VLP may avoid the requirement for complicated heterologous prime-boost regi…

T cellvirusesT-LymphocytesImmunologyT-cell vaccinationPriming (immunology)HeterologousEpitopes T-LymphocyteVaccinia virusBiologycomplex mixturesEpitopeViral vectorDNA vaccinationMicemedicineVaccines DNAVacciniaImmunology and AllergyAnimalsVaccinationVirionViral VaccinesVirologyHepatitis B Core AntigensCTL*medicine.anatomical_structureImmunologyCpG IslandsFemale
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Genome-wide analysis of factors regulating gene expression in liver

2007

In recent decades, multiple individual genes have been studied with respect to their level of expression in liver tissue and in many cases substantial progress has been made in identifying individual factors promoting gene expression in liver. However, the overall picture is still undefined and general rules or factors regulating gene expression in liver have not yet been established. Thus, a genome-wide screen for factors regulating gene expression in liver is of high interest, as it may reveal common regulatory mechanisms for most genes highly expressed in liver. These factors represent potential new targets in liver disease associated with differential gene expression. Using a novel bioi…

Transcription GeneticResponse elementPair-rule geneBiologyGene expressionGeneticsHumansRNA MessengerPromoter Regions GeneticGeneOligonucleotide Array Sequence AnalysisRegulator geneGeneticsRegulation of gene expressionBinding SitesBase SequenceGenome HumanGene Expression ProfilingComputational BiologyPromoterGeneral MedicineTATA BoxGene expression profilingGene Expression RegulationLiverOrgan SpecificityCpG IslandsLiver ExtractsAlgorithmsTranscription FactorsGene
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Epigenetic mechanisms behind phenotypic changes in different population densities in bank voles (Myodes glareolus)

2017

Metsämyyrän (Myodes glareolus) fenotyyppisten muutosten epigeneettiset mekanismit eri populaatiotiheyksissä. Epigeneettisilla mekanismeilla on perustava rooli normaalissa geeniekspression aktiivisuudessa ja ne voidaan nähdä molekulaaristen prosessien systeeminä, joka reagoi ympäristötekijöihin ja säätelee geenisäätelyä muuttamatta alkuperäistä DNA-sekvenssiä. DNA-metylaatio on eniten tutkittu epigeneettinen mekanismi jolla on tärkeä rooli geenien säätelyssä normaalin solujen kehityksen aikana. Metylaatio ilmenee tyypillisesti CpG-dinukleotideissa, joissa metyyliryhmä kiinnittyy 5’-sytosiiniin (C) jota seuraava emäs on guaniini (G). Tämä voi estää näihin CpG-paikkoihin liittyvien geenien ilm…

epigeneticspopulaatiotmetsämyyrätiheysepigenetiikkaoksitosiiniMyodes glareolusoxytocinCpG islandmethylationbank volepopulation densitymetylaatio
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