ID
45741
Description
Principal Investigator: Dmitry A. Gordenin, PhD, National Institute of Environmental Health Sciences, Durham, NC, National Institutes of Health, Bethesda, MD, USA MeSH: Clonal Evolution,Dermis,Epidermis,Clone Cells https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001182 Accumulation of genetic changes with time and proliferation of cells is inevitable. We report here the genome-wide magnitude and spectra of mutations accrued in skin fibroblasts over the lifetime of healthy humans. We found that every cell contains at least one somatic chromosomal rearrangement and 600 - 13,000 base substitutions, similar to the median mutation load in human cancers. The mutation spectra and correlation of changes with epigenomic features also resemble many human cancers. Interestingly, the magnitude of ultraviolet light-characteristic mutations, representative of environmental mutagenesis, in sun-exposed skin was comparable to the number of mutations attributed to endogenous DNA damage estimated in unexposed cells. Our methodology allows delineating the precise contributions of environmental and endogenous factors to the accrual of genetic changes in the human body. This is fundamental to understanding the etiology, and improving the prognosis and prevention of cancers and other genetic diseases.
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Versions (1)
- 6/2/23 6/2/23 - Chiara Middel
Copyright Holder
Dmitry A. Gordenin, PhD, National Institute of Environmental Health Sciences, Durham, NC, National Institutes of Health, Bethesda, MD, USA
Uploaded on
June 2, 2023
DOI
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License
Creative Commons BY 4.0
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dbGaP phs001182 Somatic Mutation Load in Clones of Single Human Cells
This subject consent data table contains subject IDs, consent group information, and subject aliases.
- StudyEvent: SEV1
- This subject consent data table contains subject IDs, consent group information, and subject aliases.
- This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs.
- This subject phenotypes data table includes subject's sex, race, and age.
- This sample attributes table includes the body site where sample was collected, analyte type, tumor status, histological type, genotyping center, and sequencing center.
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This subject consent data table contains subject IDs, consent group information, and subject aliases.
- StudyEvent: SEV1
- This subject consent data table contains subject IDs, consent group information, and subject aliases.
- This subject sample mapping data table includes a mapping of study subject IDs to sample IDs. Samples are the final preps submitted for genotyping, sequencing, and/or expression data. For example, if one patient (subject ID) gave one sample, and that sample was processed differently to generate 2 sequencing runs, there would be two rows, both using the same subject ID, but having 2 unique sample IDs.
- This subject phenotypes data table includes subject's sex, race, and age.
- This sample attributes table includes the body site where sample was collected, analyte type, tumor status, histological type, genotyping center, and sequencing center.
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