RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues-Reference-Cited by-同舟云学术

RNA sequence analysis reveals macroscopic somatic clonal expansion across normal tissues

Published:2019-06-07 Issue:6444 Volume:364 Page:
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Yizhak Keren¹^ORCID,Aguet François¹^ORCID,Kim Jaegil¹,Hess Julian M.¹^ORCID,Kübler Kirsten¹²³,Grimsby Jonna¹^ORCID,Frazer Ruslana¹,Zhang Hailei¹,Haradhvala Nicholas J.¹²,Rosebrock Daniel¹,Livitz Dimitri¹,Li Xiao¹^ORCID,Arich-Landkof Eila¹²^ORCID,Shoresh Noam¹^ORCID,Stewart Chip¹^ORCID,Segrè Ayellet V.¹³⁴^ORCID,Branton Philip A.⁵^ORCID,Polak Paz⁶^ORCID,Ardlie Kristin G.¹^ORCID,Getz Gad¹²³⁷^ORCID

Affiliation:

1. Broad Institute of MIT and Harvard, Cambridge, MA, USA.

2. Center for Cancer Research, Massachusetts General Hospital, Boston, MA, USA.

3. Harvard Medical School, Boston, MA, USA.

4. Ocular Genomics Institute, Department of Ophthalmology, Massachusetts Eye and Ear, Boston, MA, USA.

5. Biorepositories and Biospecimen Research Branch, Cancer Diagnosis Program, National Cancer Institute, Bethesda, MD, USA.

6. Oncological Sciences, Icahn School of Medicine at Mount Sinai Hospital, New York, NY, USA.

7. Department of Pathology, Massachusetts General Hospital, Boston, MA, USA.

Abstract

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

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

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