2025
Single-cell Analysis Reveals Somatic Mutation Accumulation, Loss of Differentiation, and Increased Transcriptional Entropy in Aged Human Lungs
De Man R, Cala Garcia J, Adams T, Nekola F, Moss B, Waich A, Rangel R, Anderson S, Mcdonough J, Raredon M, Yan X, Rosas I, Kaminski N. Single-cell Analysis Reveals Somatic Mutation Accumulation, Loss of Differentiation, and Increased Transcriptional Entropy in Aged Human Lungs. American Journal Of Respiratory And Critical Care Medicine 2025, 211: a5278-a5278. DOI: 10.1164/ajrccm.2025.211.abstracts.a5278.Peer-Reviewed Original Research
2024
SINGLE-CELL ANALYSIS OF SOMATIC MUTATIONS IN HUMAN LUNG REVEALS ASSOCIATION WITH TRANSCRIPTIONAL CHANGES IN AGING
De Man R, Adams T, McDonough J, Cala-Garcia J, Moss B, Yan X, Rosas I, Kaminski N. SINGLE-CELL ANALYSIS OF SOMATIC MUTATIONS IN HUMAN LUNG REVEALS ASSOCIATION WITH TRANSCRIPTIONAL CHANGES IN AGING. Innovation In Aging 2024, 8: 571-572. PMCID: PMC11690935, DOI: 10.1093/geroni/igae098.1872.Peer-Reviewed Original ResearchSomatic mutationsMutational burdenCell type annotationAlveolar type 1DNA damage response genesAnalysis of somatic mutationsSomatic mutation accumulationAccumulation of somatic mutationsCell typesUbiquitin ligase geneDamage response genesLoss of cell functionAnalyzed somatic mutationsDecreased expressionSingle-cell RNAseqLigase geneMutation accumulationTop genesSignaling GenesCell marker genesResponse genesTranscriptional changesAlveolar type 1 cellsGenesMarker genes
2021
Demographic history and patterns of molecular evolution from whole genome sequencing in the radiation of Galapagos giant tortoises
Jensen E, Gaughran S, Garrick R, Russello M, Caccone A. Demographic history and patterns of molecular evolution from whole genome sequencing in the radiation of Galapagos giant tortoises. Molecular Ecology 2021, 30: 6325-6339. PMID: 34510620, DOI: 10.1111/mec.16176.Peer-Reviewed Original ResearchConceptsGalapagos giant tortoisesPopulation genetics theoryGiant tortoisesWhole-genome sequencingMolecular evolutionWhole genomeGenetic theoryGenome sequencingPopulation genetic summary statisticsGiant tortoise speciesPopulation genetic predictionsLife-history traitsSignals of selectionPatterns of diversityMutation accumulation ratesGenetic summary statisticsEvolutionary distinctivenessRecent radiationExtant lineagesPhylogeographic studiesHistory traitsPopulation genomicsEvolutionary historyMutation accumulationDemographic history
2011
Somatic hypermutation targeting is influenced by location within the immunoglobulin V region
Cohen RM, Kleinstein SH, Louzoun Y. Somatic hypermutation targeting is influenced by location within the immunoglobulin V region. Molecular Immunology 2011, 48: 1477-1483. PMID: 21592579, PMCID: PMC3109224, DOI: 10.1016/j.molimm.2011.04.002.Peer-Reviewed Original ResearchConceptsObserved mutation patternSpecific DNA motifsBiased codon usageImmunoglobulin V genesMutation accumulationGene positionCodon usageMutation patternsDNA motifsPositive selectionPosition-specific effectsImmunoglobulin V regionsNegative selectionB cellsMutationsMutation frequencyV geneGenesPeripheral B cellsSubstitution typeV regionsTargetingSpecific targetingCellsSequence
2005
Evolution of Mutational Robustness in an RNA Virus
Montville R, Froissart R, Remold SK, Tenaillon O, Turner PE. Evolution of Mutational Robustness in an RNA Virus. PLOS Biology 2005, 3: e381. PMID: 16248678, PMCID: PMC1275523, DOI: 10.1371/journal.pbio.0030381.Peer-Reviewed Original ResearchConceptsMutational robustnessRNA virusesAccurate genome replicationEvolution of robustnessUnderstanding of evolutionAdaptive evolutionGenetic robustnessPopulation bottleneckingPhenotypic constancyMutation accumulationNatural selectionGenetic variationMutational effectsGenome replicationHigh mutation frequencyMutational changesRandom mutationsMutation rateHost cellsBiological populationsFitness changesMutation frequencyGenomeComplementationVirus
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