2024
Somatic mosaicism in schizophrenia brains reveals prenatal mutational processes
Maury E, Jones A, Seplyarskiy V, Nguyen T, Rosenbluh C, Bae T, Wang Y, Abyzov A, Khoshkhoo S, Chahine Y, Zhao S, Venkatesh S, Root E, Voloudakis G, Roussos P, Network B, Park P, Akbarian S, Brennand K, Reilly S, Lee E, Sunyaev S, Walsh C, Chess A. Somatic mosaicism in schizophrenia brains reveals prenatal mutational processes. Science 2024, 386: 217-224. PMID: 39388546, PMCID: PMC11490355, DOI: 10.1126/science.adq1456.Peer-Reviewed Original ResearchConceptsTranscription factor binding sitesWhole-genome sequencingOpen chromatinMutational processesSomatic mutationsFactor binding sitesSchizophrenia casesSchizophrenia risk genesSomatic mosaicismSomatic variantsRisk genesG mutationGene expressionGermline mutationsBinding sitesGenesMutationsIncreased somatic mutationsChromatinMosaic somatic mutationsPrenatal neurogenesisContext of schizophreniaBrain neuronsSchizophrenia brainVariants
2018
Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes
Grochowski CM, Gu S, Yuan B, Julia T, Brennand KJ, Sebat J, Malhotra D, McCarthy S, Rudolph U, Lindstrand A, Chong Z, Levy DL, Lupski JR, Carvalho CMB. Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes. Human Mutation 2018, 39: 939-946. PMID: 29696747, PMCID: PMC5995661, DOI: 10.1002/humu.23537.Peer-Reviewed Original ResearchConceptsWhole-genome sequencingSmall supernumerary marker chromosomeChromosomal fragmentsMarker chromosomesGenomic structureComparative genomic hybridization analysisSupernumerary marker chromosomeGenomic hybridization analysisTemporal originHybridization analysisArray comparative genomic hybridization analysisChromosome 9Short armRepair mechanismsMarker genotypesChromosomesPrecise architectureProband's maternal grandmotherStructural variationsPsychiatric phenotypesFurther complexityFragmentsDuplicationSequencingPhenotype