ArticlePLoS genetics2018
Distinctive types of postzygotic single-nucleotide mosaicisms in healthy individuals revealed by genome-wide profiling of multiple organs.
Article in PLoS genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed.
- Disease insights from brain somatic mosaicism.Experimental & molecular medicine · 2026Review
- Accurate detection of somatic single-nucleotide variants from bulk RNA-seq data using RNA-MosaicHunter.Nucleic acids research · 2026Article
- Control-independent mosaic single nucleotide variant detection with DeepMosaic.Nature biotechnology · 2023Article
- Grave-to-cradle: human embryonic lineage tracing from the postmortem body.Experimental & molecular medicine · 2023Review
- Overcoming Barriers to Preventing and TreatingBiomedicines · 2022Review
- Genetic mosaicism in the human brain: from lineage tracing to neuropsychiatric disorders.Nature reviews. Neuroscience · 2022Review
- Article
- Establishment of reference standards for multifaceted mosaic variant analysis.Scientific data · 2022Article
- A rare case of a male child with post-zygotic de novo mosaic variant c.538C > T in MECP2 gene: a case report of Rett syndrome.BMC neurology · 2021Article
- Sperm mosaicism: implications for genomic diversity and disease.Trends in genetics : TIG · 2021Review
- Article
- Challenges in Clinicogenetic Correlations: One Gene - Many Phenotypes.Movement disorders clinical practice · 2021Review
- Identification of Somatic Mutations From Bulk and Single-Cell Sequencing Data.Frontiers in aging · 2021Review
- Parallel RNA and DNA analysis after deep sequencing (PRDD-seq) reveals cell type-specific lineage patterns in human brain.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- MosaicBase: A Knowledgebase of Postzygotic Mosaic Variants in Noncancer Disease-related and Healthy Human Individuals.Genomics, proteomics & bioinformatics · 2020Article
- Autism risk in offspring can be assessed through quantification of male sperm mosaicism.Nature medicine · 2020Article
- In utero Exposure to Genotoxicants Leading to Genetic Mosaicism: An Overlooked Window of Susceptibility in Genetic Toxicology Testing?Environmental and molecular mutagenesis · 2020Article
- Complex Mosaicism of Two Distinct Mutations in a Female Patient WithFrontiers in genetics · 2020Article
- ATP1A3 mosaicism in families with alternating hemiplegia of childhood.Clinical genetics · 2019Article
- Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
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Authors and funding
7 authors.
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No grant is acknowledged in the PubMed record.
Abstract
Postzygotic single-nucleotide mosaicisms (pSNMs) have been extensively studied in tumors and are known to play critical roles in tumorigenesis. However, the patterns and origin of pSNMs in normal organs of healthy humans remain largely unknown. Using whole-genome sequencing and ultra-deep amplicon re-sequencing, we identified and validated 164 pSNMs from 27 postmortem organ samples obtained from five healthy donors. The mutant allele fractions ranged from 1.0% to 29.7%. Inter- and intra-organ comparison revealed two distinctive types of pSNMs, with about half originating during early embryogenesis (embryonic pSNMs) and the remaining more likely to result from clonal expansion events that had occurred more recently (clonal expansion pSNMs). Compared to clonal expansion pSNMs, embryonic pSNMs had higher proportion of C>T mutations with elevated mutation rate at CpG sites. We observed differences in replication timing between these two types of pSNMs, with embryonic and clonal expansion pSNMs enriched in early- and late-replicating regions, respectively. An increased number of embryonic pSNMs were located in open chromatin states and topologically associating domains that transcribed embryonically. Our findings provide new insights into the origin and spatial distribution of postzygotic mosaicism during normal human development.
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