ArticleGenome research2020
Complex mosaic structural variations in human fetal brains.
Article in Genome research, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 36 citations in OpenAlex.
- Disease insights from brain somatic mosaicism.Experimental & molecular medicine · 2026Review
- VACmap: an accurate long-read aligner for unraveling complex genomic rearrangements.Nature communications · 2026Article
- Advances in single-cell DNA sequencing enable insights into human somatic mosaicism.Nature reviews. Genetics · 2025Review
- Brain somatic mutations in Alzheimer's disease: linking genetic mosaicism to neurodegeneration.Molecular neurodegeneration · 2025Review
- Comprehensive benchmarking of somatic structural variant detection at ultra-low allele fractions.bioRxiv : the preprint server for biology · 2025Article
- Somatic Mosaicism in Brain Disorders.Annual review of pathology · 2025Review
- Article
- Single-cell somatic copy number variants in brain using different amplification methods and reference genomes.Communications biology · 2024Article
- Detection of mosaic and population-level structural variants with Sniffles2.Nature biotechnology · 2024Article
- Impact and characterization of serial structural variations across humans and great apes.Nature communications · 2024Article
- Building the brain mosaic: an expanded view.Trends in genetics : TIG · 2024Review
- Comprehensive assessment of long-read sequencing platforms and calling algorithms for detection of copy number variation.Briefings in bioinformatics · 2024Article
- [Sperm Mosaic Variants and Their Influence on the Offspring].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2024Review
- Single-cell somatic copy number variants in brain using different amplification methods and reference genomes.bioRxiv : the preprint server for biology · 2023Article
- Genomic variant benchmark: if you cannot measure it, you cannot improve it.Genome biology · 2023Review
- SVDSS: structural variation discovery in hard-to-call genomic regions using sample-specific strings from accurate long reads.Nature methods · 2023Article
- Somatic CNV Detection by Single-Cell Whole-Genome Sequencing in Postmortem Human Brain.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Somatic mosaicism in the diseased brain.Molecular cytogenetics · 2022Review
- Review
- Analysis of somatic mutations in 131 human brains reveals aging-associated hypermutability.Science (New York, N.Y.) · 2022Article
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Authors and funding
15 authors at 5 institutions in 2 countries.
Funding
Abstract
Somatic mosaicism, manifesting as single nucleotide variants (SNVs), mobile element insertions, and structural changes in the DNA, is a common phenomenon in human brain cells, with potential functional consequences. Using a clonal approach, we previously detected 200-400 mosaic SNVs per cell in three human fetal brains (15-21 wk postconception). However, structural variation in the human fetal brain has not yet been investigated. Here, we discover and validate four mosaic structural variants (SVs) in the same brains and resolve their precise breakpoints. The SVs were of kilobase scale and complex, consisting of deletion(s) and rearranged genomic fragments, which sometimes originated from different chromosomes. Sequences at the breakpoints of these rearrangements had microhomologies, suggesting their origin from replication errors. One SV was found in two clones, and we timed its origin to ∼14 wk postconception. No large scale mosaic copy number variants (CNVs) were detectable in normal fetal human brains, suggesting that previously reported megabase-scale CNVs in neurons arise at later stages of development. By reanalysis of public single nuclei data from adult brain neurons, we detected an extrachromosomal circular DNA event. Our study reveals the existence of mosaic SVs in the developing human brain, likely arising from cell proliferation during mid-neurogenesis. Although relatively rare compared to SNVs and present in ∼10% of neurons, SVs in developing human brain affect a comparable number of bases in the genome (∼6200 vs. ∼4000 bp), implying that they may have similar functional consequences.
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