2022
Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability
Bae T, Fasching L, Wang Y, Shin JH, Suvakov M, Jang Y, Norton S, Dias C, Mariani J, Jourdon A, Wu F, Panda A, Pattni R, Chahine Y, Yeh R, Roberts RC, Huttner A, Kleinman JE, Hyde TM, Straub RE, Walsh CA, Urban A, Leckman J, Weinberger D, Vaccarino F, Abyzov A, Walsh C, Park P, Sestan N, Weinberger D, Moran J, Gage F, Vaccarino F, Gleeson J, Mathern G, Courchesne E, Roy S, Chess A, Akbarian S, Bizzotto S, Coulter M, Dias C, D’Gama A, Ganz J, Hill R, Huang A, Khoshkhoo S, Kim S, Lee A, Lodato M, Maury E, Miller M, Borges-Monroy R, Rodin R, Zhou Z, Bohrson C, Chu C, Cortes-Ciriano I, Dou Y, Galor A, Gulhan D, Kwon M, Luquette J, Sherman M, Viswanadham V, Jones A, Rosenbluh C, Cho S, Langmead B, Thorpe J, Erwin J, Jaffe A, McConnell M, Narurkar R, Paquola A, Shin J, Straub R, Abyzov A, Bae T, Jang Y, Wang Y, Molitor C, Peters M, Linker S, Reed P, Wang M, Urban A, Zhou B, Zhu X, Pattni R, Serres Amero A, Juan D, Lobon I, Marques-Bonet T, Solis Moruno M, Garcia Perez R, Povolotskaya I, Soriano E, Antaki D, Averbuj D, Ball L, Breuss M, Yang X, Chung C, Emery S, Flasch D, Kidd J, Kopera H, Kwan K, Mills R, Moldovan J, Sun C, Zhao X, Zhou W, Frisbie T, Cherskov A, Fasching L, Jourdon A, Pochareddy S, Scuderi S. Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability. Science 2022, 377: 511-517. PMID: 35901164, PMCID: PMC9420557, DOI: 10.1126/science.abm6222.Peer-Reviewed Original ResearchConceptsTranscription factorsSomatic mutationsPutative transcription factorEnhancer-like regionSingle nucleotide mutationsWhole-genome sequencingGene regulationSomatic duplicationGenome sequencingDamaging mutationsBackground mutagenesisMutationsHypermutabilityClonal expansionMotifDiseased brainPotential linkVivo clonal expansionMutagenesisGenesDuplicationSequencingRegulation
2001
Stem Cells in Neurodevelopment and Plasticity
Vaccarino F, Ganat Y, Zhang Y, Zheng W. Stem Cells in Neurodevelopment and Plasticity. Neuropsychopharmacology 2001, 25: 805-815. PMID: 11750175, DOI: 10.1016/s0893-133x(01)00349-9.Peer-Reviewed Original ResearchConceptsNeural progenitor cellsTranscription factorsProgenitor cellsEpidermal growth factor EGFGrowth factors FGF2Stem cell proliferationGrowth factors EGFPostnatal central nervous systemNuclear transcription factorTranscriptional programsGenetic programGene cascadeNeuronal fateCell-surface interactionsControl proliferationPool of cellsCentral nervous systemEnvironmental perturbationsAdult central nervous systemMolecular signaturesDividing cellsStem cellsCell proliferationEmbryogenesisCell interactions
2000
Stem Cells and Neuronal Progenitors and Their Diversity in the CNS: Are Time and Place Important?
Vaccarino F. Stem Cells and Neuronal Progenitors and Their Diversity in the CNS: Are Time and Place Important? The Neuroscientist 2000, 6: 338-352. DOI: 10.1177/107385840000600508.Peer-Reviewed Reviews, Practice Guidelines, Standards, and Consensus StatementsDifferent cell typesFibroblast growth factorStem cellsTranscription factorsEarly transcriptional regulatorCell typesHelix transcription factorHomeodomain transcription factorPattern of expressionMultilineage progenitor cellsTranscriptional regulatorsFounder cellsCellular repertoireExtracellular signalsProper assemblyNeuronal progenitorsPositional specificationBasic fibroblast growth factorBody axesImmediate progenyProgenitor cellsGrowth factorRegulatorCellsCNS domainsThe subcellular localization of OTX2 is cell-type specific and developmentally regulated in the mouse retina
Baas D, Bumsted KM, Martinez JA, Vaccarino FM, Wikler KC, Barnstable CJ. The subcellular localization of OTX2 is cell-type specific and developmentally regulated in the mouse retina. Brain Research 2000, 78: 26-37. PMID: 10891582, DOI: 10.1016/s0169-328x(00)00060-7.Peer-Reviewed Original ResearchMeSH Keywords3T3 CellsAnimalsAntibodiesBlotting, WesternCell NucleusCytoplasmGene Expression Regulation, DevelopmentalHomeodomain ProteinsHumansMiceMice, Inbred StrainsNerve Tissue ProteinsOtx Transcription FactorsPC12 CellsPigment Epithelium of EyeRabbitsRatsRetinal Ganglion CellsRetinal Rod Photoreceptor CellsTeratocarcinomaTrans-ActivatorsTransfectionTumor Cells, CulturedConceptsSubcellular localizationTranscription factorsHomeodomain-containing proteinCell fate determinationHomeodomain transcription factorCytoplasm of rodsFate determinationCell fateOtx2 proteinSubcellular distributionOtx2Retinal pigment epithelial cellsCell typesRod photoreceptorsPigment epithelial cellsRetinal developmentCytoplasmCell linesAdult eyesEpithelial cellsCentral nervous systemImmature rodsProteinCellsDifferential distribution
1999
Identification, Chromosomal Assignment, and Expression Analysis of the Human Homeodomain-Containing Gene Orthopedia (OTP)
Lin X, State M, Vaccarino F, Greally J, Hass M, Leckman J. Identification, Chromosomal Assignment, and Expression Analysis of the Human Homeodomain-Containing Gene Orthopedia (OTP). Genomics 1999, 60: 96-104. PMID: 10458915, DOI: 10.1006/geno.1999.5882.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceAnimalsBase SequenceBrainChromosome BandingChromosome MappingChromosomes, Human, Pair 5DNA, ComplementaryDrosophila ProteinsExonsGene ExpressionGene Expression Regulation, DevelopmentalGenesHomeodomain ProteinsHumansImmunohistochemistryIn Situ Hybridization, FluorescenceIntronsMolecular Sequence DataNerve Tissue ProteinsRatsRats, Sprague-DawleySequence AlignmentSequence Analysis, DNASequence Homology, Amino AcidConceptsHuman cDNAHuman homologueRadiation hybrid panel mappingDeduced amino acid sequenceHelix transcription factorOpen reading frameAmino acid sequenceHuman HomeodomainChromosomal assignmentHomeodomain genesCell fateGenomic libraryTranscription factorsHuman chromosomesReading frameGene productsAcid sequenceHD geneExpression analysisC-terminusYAC clonesNovel polyclonal antibodyOrthopediaCell migration patternsHuman fetal brain tissue