ReviewDevelopmental neurobiology2018
Genomic mosaicism in the developing and adult brain.
Review in Developmental neurobiology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
62 citing papers in PubMed.
- A comprehensive overview of the biological foundations of ADHD.Bioscience reports · 2026Review
- RNA isoform diversity, splicing variants and switching in single cells of the Alzheimer's disease brain.Communications biology · 2026Article
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- RNA isoform diversity, splicing variants, and switching in single cells of the Alzheimer's disease brain.Research square · 2025Article
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- Sequence Diversity and Encoded Enzymatic Differences of Monocistronic L1 ORF2 mRNA Variants in the Aged Normal and Alzheimer's Disease Brain.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025Article
- Article
- Single-cell somatic copy number variants in brain using different amplification methods and reference genomes.Communications biology · 2024Article
- Developmental signals control chromosome segregation fidelity during pluripotency and neurogenesis by modulating replicative stress.Nature communications · 2024Article
- Copy number gain of FAM131B-AS2 promotes the progression of glioblastoma by mitigating replication stress.Neuro-oncology · 2024Article
- Aneuploidy is Linked to Neurological Phenotypes Through Oxidative Stress.Journal of molecular neuroscience : MN · 2024Article
- Quantitative FISHing: Implications for Chromosomal Analysis.Methods in molecular biology (Clifton, N.J.) · 2024Article
- Single-cell somatic copy number variants in brain using different amplification methods and reference genomes.bioRxiv : the preprint server for biology · 2023Article
- Integrating genetics and transcriptomics to study major depressive disorder: a conceptual framework, bioinformatic approaches, and recent findings.Translational psychiatry · 2023Review
- Allogenic Synovia-Derived Mesenchymal Stem Cells for Treatment of Equine Tendinopathies and Desmopathies-Proof of Concept.Animals : an open access journal from MDPI · 2023Article
- Cytogenomic epileptology.Molecular cytogenetics · 2023Review
- FISHing for Chromosome Instability and Aneuploidy in the Alzheimer's Disease Brain.Methods in molecular biology (Clifton, N.J.) · 2023Article
- P53 independent pathogenic mechanisms contribute to BubR1 microcephaly.Frontiers in cell and developmental biology · 2023Article
- Nucleophagy contributes to genome stability through degradation of type II topoisomerases A and B and nucleolar components.Journal of cell science · 2023Article
- Extraction and Purification of Single Nuclei from Frozen Human Brain Tissue.Methods in molecular biology (Clifton, N.J.) · 2023Article
2 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
4 authors.
Funding
Abstract
Since the discovery of DNA, the normal developing and functioning brain has been assumed to be composed of cells with identical genomes, which remains the dominant view even today. However, this pervasive assumption is incorrect, as proven by increasing numbers of reports within the last 20 years that have identified multiple forms of somatically produced genomic mosaicism (GM), wherein brain cells-especially neurons-from a single individual show diverse alterations in DNA, distinct from the germline. Critically, these changes alter the actual DNA nucleotide sequences-in contrast to epigenetic mechanisms-and almost certainly contribute to the remarkably diverse phenotypes of single brain cells, including single-cell transcriptomic profiles. Here, we review the history of GM within the normal brain, including its major forms, initiating mechanisms, and possible functions. GM forms include aneuploidies and aneusomies, smaller copy number variations (CNVs), long interspersed nuclear element type 1 (LINE1) repeat elements, and single nucleotide variations (SNVs), as well as DNA content variation (DCV) that reflects all forms of GM with greatest coverage of large, brain cell populations. In addition, technical considerations are examined, along with relationships among GM forms and multiple brain diseases. GM affecting genes and loci within the brain contrast with current neural discovery approaches that rely on sequencing nonbrain DNA (e.g., genome-wide association studies (GWAS)). Increasing knowledge of neural GM has implications for mechanisms of development, diversity, and function, as well as understanding diseases, particularly considering the overwhelming prevalence of sporadic brain diseases that are unlinked to germline mutations. © 2018 The Authors. Developmental Neurobiology Published by Wiley Periodicals, Inc. Develop Neurobiol, 2018.
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