2020
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms
Barish S, Barakat T, Michel B, Mashtalir N, Phillips J, Valencia A, Ugur B, Wegner J, Scott T, Bostwick B, Network U, Murdock D, Dai H, Perenthaler E, Nikoncuk A, van Slegtenhorst M, Brooks A, Keren B, Nava C, Mignot C, Douglas J, Rodan L, Nowak C, Ellard S, Stals K, Lynch S, Faoucher M, Lesca G, Edery P, Engleman K, Zhou D, Thiffault I, Herriges J, Gass J, Louie R, Stolerman E, Washington C, Vetrini F, Otsubo A, Pratt V, Conboy E, Treat K, Shannon N, Camacho J, Wakeling E, Yuan B, Chen C, Rosenfeld J, Westerfield M, Wangler M, Yamamoto S, Kadoch C, Scott D, Bellen H. BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms. American Journal Of Human Genetics 2020, 107: 1096-1112. PMID: 33232675, PMCID: PMC7820627, DOI: 10.1016/j.ajhg.2020.11.003.Peer-Reviewed Original ResearchMeSH KeywordsAdolescentAnimalsChildChild, PreschoolChromosomal Proteins, Non-HistoneDevelopmental DisabilitiesDrosophila melanogasterDrosophila ProteinsFemaleGenes, DominantGenetic VariationHaploinsufficiencyHumansInfantMaleMicroscopy, ConfocalMutation, MissenseNeurogliaNeuronsPhenotypeProtein BindingTumor Suppressor ProteinsZebrafishZebrafish ProteinsConceptsSWI/SNF complex membersComplex membersSWI/SNF familyPosition-effect variegationIntellectual disability disordersContext-specific mannerNcBAF complexesDrosophila orthologDominant enhancersBAF complexModel organismsFunctional characterizationDisability disordersCraniofacial defectsNeurodevelopmental phenotypesOrthologsRelated phenotypesPhenotypeFunction variantsRare neurodevelopmental disorderGenesRare variantsFliesPathogenic variantsNeurodevelopmental disorders
2019
cindr, the Drosophila Homolog of the CD2AP Alzheimer’s Disease Risk Gene, Is Required for Synaptic Transmission and Proteostasis
Ojelade S, Lee T, Giagtzoglou N, Yu L, Ugur B, Li Y, Duraine L, Zuo Z, Petyuk V, De Jager P, Bennett D, Arenkiel B, Bellen H, Shulman J. cindr, the Drosophila Homolog of the CD2AP Alzheimer’s Disease Risk Gene, Is Required for Synaptic Transmission and Proteostasis. Cell Reports 2019, 28: 1799-1813.e5. PMID: 31412248, PMCID: PMC6703184, DOI: 10.1016/j.celrep.2019.07.041.Peer-Reviewed Original ResearchConceptsPlasma membrane calcium ATPaseDisease risk genesDisease susceptibility genesSynaptic vesicle recyclingUbiquitin-proteasome systemMembrane calcium ATPaseAlzheimer’s disease risk genesDrosophila homologConserved roleAlzheimer's disease susceptibility genesSynaptic proteostasisAdaptor proteinNeuronal requirementsVesicle recyclingProteostasisCindrRisk genesSusceptibility genesSynapse maturationHuman postmortem brainHuman tauProtein levelsNeurofibrillary tangle pathologyNull miceAD susceptibility
2014
Large-scale identification of chemically induced mutations in Drosophila melanogaster
Haelterman NA, Jiang L, Li Y, Bayat V, Sandoval H, Ugur B, Tan KL, Zhang K, Bei D, Xiong B, Charng WL, Busby T, Jawaid A, David G, Jaiswal M, Venken KJ, Yamamoto S, Chen R, Bellen HJ. Large-scale identification of chemically induced mutations in Drosophila melanogaster. Genome Research 2014, 24: 1707-1718. PMID: 25258387, PMCID: PMC4199363, DOI: 10.1101/gr.174615.114.Peer-Reviewed Original ResearchConceptsWhole-genome sequencingDrosophila X chromosomeThousands of polymorphismsEukaryotic model organismForward genetic screenChemical mutagenesis screenFunctions of thousandsPhenotype of interestLarge-scale identificationTime-consuming identificationHundreds of strainsSingle nucleotide variantsGenetic screenEssential genesDrosophila melanogasterModel organismsMutagenesis screenRescue lethalityX chromosomeMutant strainCandidate mutationsMolecular lesionsLarge duplicationChemical mutagensRough mapping