2023
Novel epigenetic molecular therapies for imprinting disorders
Wang S, Jiang Y. Novel epigenetic molecular therapies for imprinting disorders. Molecular Psychiatry 2023, 28: 3182-3193. PMID: 37626134, PMCID: PMC10618104, DOI: 10.1038/s41380-023-02208-7.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsConceptsActive alleleImprinting disordersMolecular mechanismsGenome editing approachesEpigenetic-based therapiesUnique molecular mechanismGenomic imprinting disordersImprinted genesGenome editingMolecular approachesEditing approachesInactive allelesNew therapeutic strategiesAllelesSmall moleculesMolecular therapyTherapeutic strategies
2016
Loss of RNA expression and allele-specific expression associated with congenital heart disease
McKean DM, Homsy J, Wakimoto H, Patel N, Gorham J, DePalma SR, Ware JS, Zaidi S, Ma W, Patel N, Lifton RP, Chung WK, Kim R, Shen Y, Brueckner M, Goldmuntz E, Sharp AJ, Seidman CE, Gelb BD, Seidman JG. Loss of RNA expression and allele-specific expression associated with congenital heart disease. Nature Communications 2016, 7: 12824. PMID: 27670201, PMCID: PMC5052634, DOI: 10.1038/ncomms12824.Peer-Reviewed Original ResearchConceptsAllele-specific expressionPaternal allele expressionCardiac developmental genesCardiac transcription factorsAltered gene expressionDevelopmental genesImprinted genesCHD genesTranscription factorsMost congenital heart diseasesPrevalent birth defectsASE eventsPaternal alleleTranscriptional expressionGene expressionRNAseq analysisCongenital heart diseaseAllele expressionGenesAberrant expressionRNA expressionBiallelic lossExpressionCHD subjectsHeart disease
2014
In Vitro Culture Increases the Frequency of Stochastic Epigenetic Errors at Imprinted Genes in Placental Tissues from Mouse Concepti Produced Through Assisted Reproductive Technologies1
de Waal E, Mak W, Calhoun S, Stein P, Ord T, Krapp C, Coutifaris C, Schultz RM, Bartolomei MS. In Vitro Culture Increases the Frequency of Stochastic Epigenetic Errors at Imprinted Genes in Placental Tissues from Mouse Concepti Produced Through Assisted Reproductive Technologies1. Biology Of Reproduction 2014, 90: 22, 1-12. PMID: 24337315, PMCID: PMC4076403, DOI: 10.1095/biolreprod.113.114785.Peer-Reviewed Original ResearchConceptsEpigenetic errorsEpigenetic defectsART-conceived offspringImprinted genesMammalian embryosDNA methylationEpigenetic profilesPreimplantation developmentEpigenetic abnormalitiesAssisted Reproductive TechnologyMammalian speciesMouse conceptiMouse embryosExpression profilesEmbryonic tissuesAbnormal methylationGenesEmbryosPlacental tissueIVF embryosVitro CultureMethylationHigh oxygen tensionLow birth weightMillions of couples
2008
Genomic imprinting of IGF2 in marsupials is methylation dependent
Lawton BR, Carone BR, Obergfell CJ, Ferreri GC, Gondolphi CM, VandeBerg JL, Imumorin I, O'Neill RJ, O'Neill MJ. Genomic imprinting of IGF2 in marsupials is methylation dependent. BMC Genomics 2008, 9: 205. PMID: 18454865, PMCID: PMC2386826, DOI: 10.1186/1471-2164-9-205.Peer-Reviewed Original ResearchConceptsMatrix attachment regionsGenomic imprintingSpecific CpG residuesParent-specific methylationSouth American opossum Monodelphis domesticaAllele-specific patternsMarsupial genomesTranscriptional silencingEvolutionary originImprinted lociImprinted genesSelective forcesCpG residuesEutherian mammalsBiallelic expressionDNA methylationRegulatory featuresCpG methylationKilobase regionOpossum Monodelphis domesticaKey regulatorPaternal Igf2 alleleIgf2 alleleMaternal alleleImprinting mechanism
2007
LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia
Francks C, Maegawa S, Laurén J, Abrahams BS, Velayos-Baeza A, Medland SE, Colella S, Groszer M, McAuley EZ, Caffrey TM, Timmusk T, Pruunsild P, Koppel I, Lind PA, Matsumoto-Itaba N, Nicod J, Xiong L, Joober R, Enard W, Krinsky B, Nanba E, Richardson AJ, Riley BP, Martin NG, Strittmatter SM, Möller HJ, Rujescu D, St Clair D, Muglia P, Roos JL, Fisher SE, Wade-Martins R, Rouleau GA, Stein JF, Karayiorgou M, Geschwind DH, Ragoussis J, Kendler KS, Airaksinen MS, Oshimura M, DeLisi LE, Monaco AP. LRRTM1 on chromosome 2p12 is a maternally suppressed gene that is associated paternally with handedness and schizophrenia. Molecular Psychiatry 2007, 12: 1129-1139. PMID: 17667961, PMCID: PMC2990633, DOI: 10.1038/sj.mp.4002053.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsBrainCell Line, TransformedChromosomes, Human, Pair 2Family HealthFemaleFunctional LateralityGene Expression Regulation, DevelopmentalGenetic Predisposition to DiseaseGenotypeHumansIn Situ HybridizationKaryotypingMaleMembrane ProteinsMiceNerve Tissue ProteinsSchizophreniaSubcellular FractionsConceptsHuman brain asymmetryPutative genetic effectsEvolutionary originImprinted genesChromosome 2p12Candidate genesBehavioral evolutionHuman handednessNeuronal differentiationBrain asymmetryLRRTM1Specific forebrain structuresSchizophrenia/schizoaffective disorderGenetic effectsGenesSame haplotypePotential genetic influencesDirect confirmatory evidenceCommon neurodevelopmental disorderFunction underliesForebrain structuresSchizoaffective disorderHaplotypesSignificant associationNeuropsychiatric disorders
1999
Paternal Deletion from Snrpn to Ube3a in the Mouse Causes Hypotonia, Growth Retardation and Partial Lethality and Provides Evidence for a Gene Contributing to Prader-Willi Syndrome
Tsai T, Jiang Y, Bressler J, Armstrong D, Beaudet A. Paternal Deletion from Snrpn to Ube3a in the Mouse Causes Hypotonia, Growth Retardation and Partial Lethality and Provides Evidence for a Gene Contributing to Prader-Willi Syndrome. Human Molecular Genetics 1999, 8: 1357-1364. PMID: 10400982, DOI: 10.1093/hmg/8.8.1357.Peer-Reviewed Original ResearchMeSH KeywordsAbnormalities, MultipleAnimalsAutoantigensBrainChromosome DeletionFemaleGene ExpressionGenomic ImprintingHumansLigasesMaleMiceMice, Inbred StrainsMuscle HypotoniaMutagenesis, Site-DirectedOpen Reading FramesPedigreePhenotypePrader-Willi SyndromeRibonucleoproteins, Small NuclearRNAsnRNP Core ProteinsUbiquitin-Protein LigasesConceptsOpen reading framePartial lethalityExon 2Pathogenesis of PWSUpstream open reading framesObvious phenotypic abnormalitiesMouse chromosome 7CGenomic imprintsImprinted expressionPrader-Willi syndromeHuman translocationImprinted genesGene ContributingStructural genePaternal deficiencyChromosome 7CPaternal chromosomesGenotype/phenotype correlationHuman chromosomesMethylation patternsImprinting mutationsReading frameMultiple genesLoss of expressionSNRPN
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