2021
TET1-mediated DNA hydroxymethylation regulates adult remyelination in mice
Moyon S, Frawley R, Marechal D, Huang D, Marshall-Phelps KLH, Kegel L, Bøstrand SMK, Sadowski B, Jiang YH, Lyons DA, Möbius W, Casaccia P. TET1-mediated DNA hydroxymethylation regulates adult remyelination in mice. Nature Communications 2021, 12: 3359. PMID: 34099715, PMCID: PMC8185117, DOI: 10.1038/s41467-021-23735-3.Peer-Reviewed Original ResearchConceptsDNA hydroxymethylationSolute carrier gene familyNeuro-glial communicationZebrafish mutantsGene familyTranscriptomic analysisMyelin interfaceTen-ElevenAdult central nervous systemCentral nervous systemTET1Overexpressing cellsAdult remyelinationExpression levelsMutantsHydroxymethylationGenesNervous systemRepairMyelin repairTransportersKnockoutMiceRegulationAged mice
2020
A Novel Chd8 Mutant Mouse Displays Altered Ultrasonic Vocalizations and Enhanced Motor Coordination
Hulbert SW, Wang X, Gbadegesin SO, Xu Q, Xu X, Jiang Y. A Novel Chd8 Mutant Mouse Displays Altered Ultrasonic Vocalizations and Enhanced Motor Coordination. Autism Research 2020, 13: 1685-1697. PMID: 32815320, PMCID: PMC7780289, DOI: 10.1002/aur.2353.Peer-Reviewed Original Research
2018
Autism-associated CHD8 deficiency impairs axon development and migration of cortical neurons
Xu Q, Liu YY, Wang X, Tan GH, Li HP, Hulbert SW, Li CY, Hu CC, Xiong ZQ, Xu X, Jiang YH. Autism-associated CHD8 deficiency impairs axon development and migration of cortical neurons. Molecular Autism 2018, 9: 65. PMID: 30574290, PMCID: PMC6299922, DOI: 10.1186/s13229-018-0244-2.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsAutistic DisorderCells, CulturedCerebral CortexDNA-Binding ProteinsHumansMiceMice, Inbred C57BLNeurogenesisNeuronsConceptsCHD8 deficiencyNeuronal migrationChromodomain helicase DNAMouse brainChromatin structureTranscriptional regulatorsParvalbumin-positive neuronsHistone H1Autism spectrum disorderGenetic studiesCHD8Protein 8Functional consequencesNovel insightsBiochemical analysisContralateral cortexSitu hybridizationCortical neuronsCommon findingUtero electroporationGlia cellsNeuronal culturesAxon projectionsDeficiency impairsCircuit mechanismsEpigenetic dysregulation of Oxtr in Tet1-deficient mice has implications for neuropsychiatric disorders
Towers AJ, Tremblay MW, Chung L, Li XL, Bey AL, Zhang W, Cao X, Wang X, Wang P, Duffney LJ, Siecinski SK, Xu S, Kim Y, Kong X, Gregory S, Xie W, Jiang YH. Epigenetic dysregulation of Oxtr in Tet1-deficient mice has implications for neuropsychiatric disorders. JCI Insight 2018, 3: e120592. PMID: 30518695, PMCID: PMC6328031, DOI: 10.1172/jci.insight.120592.Peer-Reviewed Original ResearchGenomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencing
Wu J, Yu P, Jin X, Xu X, Li J, Li Z, Wang M, Wang T, Wu X, Jiang Y, Cai W, Mei J, Min Q, Xu Q, Zhou B, Guo H, Wang P, Zhou W, Hu Z, Li Y, Cai T, Wang Y, Xia K, Jiang YH, Sun ZS. Genomic landscapes of Chinese sporadic autism spectrum disorders revealed by whole-genome sequencing. Journal Of Genetics And Genomics 2018, 45: 527-538. PMID: 30392784, DOI: 10.1016/j.jgg.2018.09.002.Peer-Reviewed Original ResearchMeSH Keywords3' Untranslated RegionsAdolescentAdultAsian PeopleAutism Spectrum DisorderCell Cycle ProteinsChildChild, PreschoolChinaDNA Copy Number VariationsDNA-Binding ProteinsFemaleGenetic Predisposition to DiseaseHumansMaleMutationNerve Tissue ProteinsTranscription FactorsWhole Genome SequencingYoung AdultConceptsChromosomal rearrangement eventsDe novo chromosomal translocationsGenomic structural variantsNovo chromosomal translocationWhole genome sequencing datasetsFull genetic spectrumRare deleterious variantsChromosomal structure analysisHigh mutation rateSporadic autism spectrum disordersWhole-genome sequencingChromatin remodelingCentrosomal functionWhole genomeRare inherited mutationsDe novo mutationsRearrangement eventsSequencing datasetsDeleterious variantsGenomic variantsMutation rateStructural variantsGenomic landscapeNovo CNVsRisk genes
2016
Isoform Switch of TET1 Regulates DNA Demethylation and Mouse Development
Zhang W, Xia W, Wang Q, Towers AJ, Chen J, Gao R, Zhang Y, Yen CA, Lee AY, Li Y, Zhou C, Liu K, Zhang J, Gu TP, Chen X, Chang Z, Leung D, Gao S, Jiang YH, Xie W. Isoform Switch of TET1 Regulates DNA Demethylation and Mouse Development. Molecular Cell 2016, 64: 1062-1073. PMID: 27916660, DOI: 10.1016/j.molcel.2016.10.030.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBinding SitesChromatinCpG IslandsDNA-Binding ProteinsEmbryo, MammalianGene Expression Regulation, DevelopmentalGenomic ImprintingMaleMiceMouse Embryonic Stem CellsOvumPromoter Regions, GeneticProtein BindingProtein Interaction Domains and MotifsProtein IsoformsProto-Oncogene ProteinsSpermatozoaConceptsPrimordial germ cellsEmbryonic stem cellsCpG islandsChromatin bindingDNA demethylationMouse developmentDNA-binding modulesCXXC domainTET proteinsEarly embryosSomatic cellsN-terminusDevelopmental defectsShort isoformExclusive expressionTET1Germ cellsIsoform switchStem cellsDemethylationIsoformsCellsBindingImportant roleTerminus
2014
A genomic copy number variant analysis implicates the MBD5 and HNRNPUgenes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion
Du X, An Y, Yu L, Liu R, Qin Y, Guo X, Sun D, Zhou S, Wu B, Jiang YH, Wang Y. A genomic copy number variant analysis implicates the MBD5 and HNRNPUgenes in Chinese children with infantile spasms and expands the clinical spectrum of 2q23.1 deletion. BMC Medical Genomics 2014, 15: 62. PMID: 24885232, PMCID: PMC4061518, DOI: 10.1186/1471-2350-15-62.Peer-Reviewed Original ResearchMeSH Keywords1-Alkyl-2-acetylglycerophosphocholine EsteraseAge of OnsetBrainChild, PreschoolChromosome DeletionChromosomes, Human, Pair 1Chromosomes, Human, Pair 17Chromosomes, Human, Pair 2DNA Copy Number VariationsDNA-Binding ProteinsFaciesFemaleFoot Deformities, CongenitalHand Deformities, CongenitalHeterogeneous-Nuclear RibonucleoproteinsHumansInfantInfant, NewbornMagnetic Resonance ImagingMaleMicrotubule-Associated ProteinsPhenotypeSpasms, InfantileConceptsInfantile spasmsEpileptic encephalopathyChinese childrenCNV lossDistinct clinical presentationsCopy number variantsPathogenicity of CNVsAutism spectrum disorderCausative genesMajority of casesWhole-exome sequencingRole of CNVsGeneralized seizuresClinical featuresClinical presentationClinical spectrumPrimary diagnosisSevere developmental disabilitiesSpasmConclusionOur findingsMBD5 geneReal-time qPCRExome sequencingGenetic factorsDifferent ethnic backgrounds