2019
Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility
Robson A, Makova SZ, Barish S, Zaidi S, Mehta S, Drozd J, Jin SC, Gelb BD, Seidman CE, Chung WK, Lifton RP, Khokha MK, Brueckner M. Histone H2B monoubiquitination regulates heart development via epigenetic control of cilia motility. Proceedings Of The National Academy Of Sciences Of The United States Of America 2019, 116: 14049-14054. PMID: 31235600, PMCID: PMC6628794, DOI: 10.1073/pnas.1808341116.Peer-Reviewed Original ResearchMeSH KeywordsAnimalsCell MovementCell ProliferationChromatin Assembly and DisassemblyCiliaDisease Models, AnimalEpigenesis, GeneticGene Expression Regulation, NeoplasticHeartHeart Defects, CongenitalHistonesHumansLoss of Function MutationMiceRegulatory Factor X Transcription FactorsSignal TransductionUbiquitinationUbiquitin-Conjugating EnzymesUbiquitin-Protein LigasesXenopusConceptsHistone H2B monoubiquitinationCilia genesH2B monoubiquitinationCilia motilityFunctional gene ontologyHuman congenital heart diseaseUpstream transcriptional regulatorsTissue-specific expressionChromatin remodeling genesChromatin remodelingEpigenetic controlH2Bub1 levelsTranscriptional regulatorsChIP-seqDepletion phenotypeGene OntologyGenomic analysisTranscription factorsKnockdown resultsLeft-right asymmetryCilia functionHeart developmentH2Bub1RNF20Complex consisting
2015
Intraciliary Calcium Oscillations Initiate Vertebrate Left-Right Asymmetry
Yuan S, Zhao L, Brueckner M, Sun Z. Intraciliary Calcium Oscillations Initiate Vertebrate Left-Right Asymmetry. Current Biology 2015, 25: 556-567. PMID: 25660539, PMCID: PMC4469357, DOI: 10.1016/j.cub.2014.12.051.Peer-Reviewed Original ResearchConceptsLeft-right organizerLR developmentCiliary motilityVertebrate left–right asymmetryLeft-right signalingLive zebrafish embryosVertebrate developmentLeft-right asymmetryZebrafish embryosSensory ciliaPolycystin-2Signaling cascadesMolecular signalsMolecular mechanismsIntraciliary calciumCation channelsMotilityBilateral symmetryCalcium sinkCiliaCalcium oscillationsPKD2SignalingEmbryosExtracellular fluid
2001
Cilia propel the embryo in the right direction
Brueckner M. Cilia propel the embryo in the right direction. American Journal Of Medical Genetics 2001, 101: 339-344. PMID: 11471157, DOI: 10.1002/1096-8628(20010715)101:4<339::aid-ajmg1442>3.0.co;2-p.Peer-Reviewed Original Research
2000
Of mice and men: Dissecting the genetic pathway that controls left‐right asymmetry in mice and humans
Schneider H, Brueckner M. Of mice and men: Dissecting the genetic pathway that controls left‐right asymmetry in mice and humans. American Journal Of Medical Genetics 2000, 97: 258-270. PMID: 11376437, DOI: 10.1002/1096-8628(200024)97:4<258::aid-ajmg1276>3.0.co;2-8.Peer-Reviewed Original ResearchMeSH KeywordsAbnormalities, MultipleAnimalsBody PatterningCiliaDyneinsEctodermEmbryonic and Fetal DevelopmentEndodermFetal ProteinsGastrulaGene Expression Regulation, DevelopmentalGenesGenes, HomeoboxGenes, LethalHomeodomain ProteinsHumansKinesinsMiceMice, Mutant StrainsMutationNotochordPhenotypeSpecies SpecificityTranscription FactorsConceptsLeft-right asymmetrySpontaneous mouse mutationGenetic pathwaysHuman homologueMouse mutationNode monociliaHuman mutationsHuman phenotypesFinal phenotypeOrchestrated mannerPathways resultsMouse phenotypeGenesLaterality determinationMutationsPhenotypeModel systemDifferent stepsMonociliaHomologuesCombination of analysisMicePathwayHuman developmentInitial asymmetry
1999
Targeted deletion of the ATP binding domain of left-right dynein confirms its role in specifying development of left-right asymmetries
Supp D, Brueckner M, Kuehn M, Witte D, Lowe L, McGrath J, Corrales J, Potter S. Targeted deletion of the ATP binding domain of left-right dynein confirms its role in specifying development of left-right asymmetries. Development 1999, 126: 5495-5504. PMID: 10556073, PMCID: PMC1797880, DOI: 10.1242/dev.126.23.5495.Peer-Reviewed Original ResearchMeSH KeywordsAdenosine TriphosphateAmino Acid SequenceAnimalsAxonemal DyneinsBinding SitesBody PatterningCatalytic DomainCiliaCloning, MolecularDyneinsFunctional LateralityGene Expression Regulation, DevelopmentalHeadMaleMiceMice, Inbred StrainsMolecular Sequence DataMutationNervous SystemSequence AnalysisSequence DeletionConceptsLeft-right dyneinLeft-right developmentLeft-right asymmetryEmbryonic day 8.0Microtubule-based motor proteinsAsymmetric expression patternLevel of sequenceComplete coding sequenceEmbryonic day 7.5Single amino acid differenceLeft-right specificationAmino acid differencesLeft-right axisLgl mutantsATP bindingConserved positionDay 8.0Inversus viscerum (iv) mouseCoding sequenceMotor proteinsDorsoventral axesExpression patternsGerm layersAcid differencesGenes
1997
Mutation of an axonemal dynein affects left–right asymmetry in inversus viscerum mice
Supp D, Witte D, Potter S, Brueckner M. Mutation of an axonemal dynein affects left–right asymmetry in inversus viscerum mice. Nature 1997, 389: 963-966. PMID: 9353118, PMCID: PMC1800588, DOI: 10.1038/40140.Peer-Reviewed Original ResearchConceptsAxonemal dynein heavy chain geneDynein heavy chain geneAsymmetric expression patternMicrotubule-based motorsEmbryonic day 7.5Vertebrate patterningLeft-right axisGenetic hierarchyLeft-right asymmetryEarly molecular mechanismsPositional cloningHeavy chain geneInversus viscerum (iv) mouseGene productsVisceral asymmetryAxonemal dyneinsSymmetrical embryosExpression patternsMolecular mechanismsLR determinationMolecular levelDay 7.5EmbryosLateralization defectsDynein
1996
Laterality disturbances
Bowers P, Brueckner M, Yost H. Laterality disturbances. Progress In Pediatric Cardiology 1996, 6: 53-62. DOI: 10.1016/1058-9813(96)00171-3.Peer-Reviewed Original ResearchLeft-right body axisBody axisEmbryonic left-right axisPrimitive heart tubeLeft-right axisLeft-right asymmetryCardiac morphogenesisHeart developmentDevelopmental processesDorsoventral axesGenetic stepsHeart tubeMolecular levelLoop formationLaterality disturbancesComplex groupMorphogenesisFormation resultsVisible asymmetry
1992
Duplication/deficiency mapping of situs inversus viscerum (iv), a gene that determines left-right asymmetry in the mouse
McGrath J, Horwich A, Brueckner M. Duplication/deficiency mapping of situs inversus viscerum (iv), a gene that determines left-right asymmetry in the mouse. Genomics 1992, 14: 643-648. PMID: 1427890, DOI: 10.1016/s0888-7543(05)80163-6.Peer-Reviewed Original ResearchConceptsDistal mouse chromosome 12Distal chromosome 12Mouse chromosome 12Deficiency mappingChromosome 12Trisomic progenyLeft-right body axisGenetic map locationDerivative chromosomesLeft-right asymmetryDuplication analysisTelomeric regionsMap locationChromosomal regionsGene complexChromosome 5Recessive mutationsBody axisGenetic linkageNormal copyProximal regionProgenyChromosomesMutationsReciprocal translocation
1991
Establishment of Left‐Right Asymmetry in Vertebrates: Genetically Distinct Steps are Involved
Brueckner M, McGrath J, D'Eustachio P, Horwich A. Establishment of Left‐Right Asymmetry in Vertebrates: Genetically Distinct Steps are Involved. Novartis Foundation Symposia 1991, 162: 202-218. PMID: 1802643, DOI: 10.1002/9780470514160.ch12.Peer-Reviewed Original ResearchConceptsRestriction fragment length polymorphism (RFLP) markersFragment length polymorphism (AFLP) markersMouse chromosome 12Length polymorphism markersTiming of expressionLeft-right determinationLeft-right axisLeft-right asymmetryPositional cloningPolymorphism markersRecessive allelesGene productsPattern of inheritanceChromosome 12Developmental pathwaysLinkage analysisCardiac tubeFunction mutationsGenesMolecular analysisDevelopmental stepsFirst organAffected embryosVertebratesDistinct phenotypes