Trial reportPLoS genetics2016
The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts.
Trial report in PLoS genetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01087307 (Sample Collection Registry for Quality Control of Biological and Environmental Specimens and Assay Development and Testing), which is not on this map. Cited by 64 papers.
What it found
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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.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Sample Collection Registry for Quality Control of Biological and Environmental Specimens and Assay Development and Testing
Who cites it
64 citing papers in PubMed, 102 citations in OpenAlex.
- Motif-centered analyses reveal universal and tissue-specific mutagenic mechanisms operating in the human body.NAR cancer · 2026Article
- Motif-Centered Analyses Reveal Universal and Tissue-Specific Mutagenic Mechanisms Operating in the Human Body.bioRxiv : the preprint server for biology · 2026Article
- Comparative whole-genome analyses of articular chondrocytes and skin fibroblasts reveal distinct genome instability landscapes in mesenchymal cell types.PLoS genetics · 2026Article
- SigRescueR: a pan-system framework for noise correction and mutational signature identification across sequencing platforms.Briefings in bioinformatics · 2026Article
- Comparative whole-genome analyses of articular chondrocytes and skin fibroblasts reveal distinct genome instability landscapes in mesenchymal cell types.bioRxiv : the preprint server for biology · 2026Article
- Review
- Male aging in germ cells: What are we inheriting?Genetics and molecular biology · 2025Article
- Widespread mutagenesis and chromosomal instability shape somatic genomes in systemic sclerosis.Nature communications · 2024Article
- Mutational Landscapes of Normal Skin and Their Potential Implications in the Development of Skin Cancer: A Comprehensive Narrative Review.Journal of clinical medicine · 2024Review
- The Surprising Diversity of UV-Induced Mutations.Advanced genetics (Hoboken, N.J.) · 2024Article
- Arsenic is a potent co-mutagen of ultraviolet light.Communications biology · 2023Article
- Application of patient-derived induced pluripotent stem cells and organoids in inherited retinal diseases.Stem cell research & therapy · 2023Review
- Error-corrected duplex sequencing enables direct detection and quantification of mutations in human TK6 cells with strong inter-laboratory consistency.Mutation research. Genetic toxicology and environmental mutagenesis · 2023Article
- Proton and alpha radiation-induced mutational profiles in human cells.Scientific reports · 2023Article
- Changes in metabolic landscapes shape divergent but distinct mutational signatures and cytotoxic consequences of redox stress.Nucleic acids research · 2023Article
- Fibroblasts as Turned Agents in Cancer Progression.Cancers · 2023Review
- Retrotransposon instability dominates the acquired mutation landscape of mouse induced pluripotent stem cells.Nature communications · 2022Article
- Evaluating cancer etiology and risk with a mathematical model of tumor evolution.Nature communications · 2022Article
- Substantial somatic genomic variation and selection for BCOR mutations in human induced pluripotent stem cells.Nature genetics · 2022Article
- Estimating tumor mutational burden from RNA-sequencing without a matched-normal sample.Nature communications · 2022Article
4 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 5 institutions in 1 country.
Funding
Abstract
Accumulation of somatic changes, due to environmental and endogenous lesions, in the human genome is associated with aging and cancer. Understanding the impacts of these processes on mutagenesis is fundamental to understanding the etiology, and improving the prognosis and prevention of cancers and other genetic diseases. Previous methods relying on either the generation of induced pluripotent stem cells, or sequencing of single-cell genomes were inherently error-prone and did not allow independent validation of the mutations. In the current study we eliminated these potential sources of error by high coverage genome sequencing of single-cell derived clonal fibroblast lineages, obtained after minimal propagation in culture, prepared from skin biopsies of two healthy adult humans. We report here accurate measurement of genome-wide magnitude and spectra of mutations accrued in skin fibroblasts of healthy adult humans. We found that every cell contains at least one chromosomal rearrangement and 600–13,000 base substitutions. The spectra and correlation of base substitutions with epigenomic features resemble many cancers. Moreover, because biopsies were taken from body parts differing by sun exposure, we can delineate the precise contributions of environmental and endogenous factors to the accrual of genetic changes within the same individual. We show here that UV-induced and endogenous DNA damage can have a comparable impact on the somatic mutation loads in skin fibroblasts. Trial Registration: ClinicalTrials.gov NCT01087307.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.