Research Article

RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues

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Science  07 Jun 2019:
Vol. 364, Issue 6444, eaaw0726
DOI: 10.1126/science.aaw0726

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Somatic mosaicism in normal tissues

Somatic cells can accumulate mutations over the course of an individual's lifetime. This generates cells that differ genetically at specific loci within the genome. To explore how this genetic diversity in individuals contributes to disease, Yizhak et al. developed a method to detect mutations from RNA sequencing data (see the Perspective by Tomasetti). Applying this method to Cancer Genome Atlas samples and normal samples from the Genotype-Tissue Expression (GTEx) project generated a tissue-specific study of mutation accumulation. Somatic mutations were detected in nearly all individuals and across many normal human tissues in genomic regions called cancer hotspots and in genes that play a role in cancer. Interestingly, the skin, lung, and esophagus exhibited the most mutations, suggesting that the environment generates many human mutations.

Science, this issue p. eaaw0726; see also p. 938