Faculty Opinions recommendation of RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues.
Year: 2019
Type: peer-review
Abstract: How somatic mutations accumulate in normal cells is poorly understood.A comprehensive analysis of RNA-sequencing data from ~6,700 samples across 29 normal tissues reveals multiple somatic variants, demonstrating that macroscopic clones can be found in many normal tissues.We confirm that sun-exposed skin, esophagus, and lung have a higher mutation burden than other tested tissues, suggesting that environmental factors can promote somatic mosaicism.Mutation burden is associated with both age and tissue-specific cell proliferation rate, highlighting that mutations accumulate over time and number of cell divisions.Finally, we find that normal tissues harbor mutations in known cancer genes and hotspots.This study provides a broad view of macroscopic clonal expansion in human tissues, thus serving as the basis to associate clonal expansion with environmental factors, aging and risk of disease.
Author: Jerry Shay
Institution: The University of Texas Southwestern Medical Center
Language: English
Subfield: Cancer Research
Domain: Life Sciences
Open Access status: green
Funder: Israel Science Foundation
OpenAlex ID: W4251558889