A body map of somatic mutagenesis in morphologically normal human tissues

Ruoyan Li, Lin Di, Jie Li, Wenyi Fan, Yachen Liu, Wenjia Guo, Weiling Liu, Lu Liu, Qiong Li, Liping Chen, Yamei Chen, Chuanwang Miao, Hongjin Liu, Yuqian Wang, Yuling Ma, Deshu Xu, Dongxin Lin (), Yanyi Huang (), Jianbin Wang (), Fan Bai () and Chen Wu ()
Additional contact information
Ruoyan Li: Peking University (PKU)
Lin Di: Peking University (PKU)
Jie Li: Tsinghua University
Wenyi Fan: National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences (CAMS) and Peking Union Medical College (PUMC)
Yachen Liu: National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences (CAMS) and Peking Union Medical College (PUMC)
Wenjia Guo: National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences (CAMS) and Peking Union Medical College (PUMC)
Weiling Liu: National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences (CAMS) and Peking Union Medical College (PUMC)
Lu Liu: Peking University (PKU)
Qiong Li: Tsinghua University
Liping Chen: National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences (CAMS) and Peking Union Medical College (PUMC)
Yamei Chen: National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences (CAMS) and Peking Union Medical College (PUMC)
Chuanwang Miao: National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences (CAMS) and Peking Union Medical College (PUMC)
Hongjin Liu: National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences (CAMS) and Peking Union Medical College (PUMC)
Yuqian Wang: National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences (CAMS) and Peking Union Medical College (PUMC)
Yuling Ma: National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences (CAMS) and Peking Union Medical College (PUMC)
Deshu Xu: Peking University (PKU)
Dongxin Lin: National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences (CAMS) and Peking Union Medical College (PUMC)
Yanyi Huang: Peking University (PKU)
Jianbin Wang: Tsinghua University
Fan Bai: Peking University (PKU)
Chen Wu: National Cancer Center/Cancer Hospital, Chinese Academy of Medical Sciences (CAMS) and Peking Union Medical College (PUMC)

Nature, 2021, vol. 597, issue 7876, 398-403

Abstract: Abstract Somatic mutations that accumulate in normal tissues are associated with ageing and disease1,2. Here we performed a comprehensive genomic analysis of 1,737 morphologically normal tissue biopsies of 9 organs from 5 donors. We found that somatic mutation accumulations and clonal expansions were widespread, although to variable extents, in morphologically normal human tissues. Somatic copy number alterations were rarely detected, except for in tissues from the oesophagus and cardia. Endogenous mutational processes with the SBS1 and SBS5 mutational signatures are ubiquitous among normal tissues, although they exhibit different relative activities. Exogenous mutational processes operate in multiple tissues from the same donor. We reconstructed the spatial somatic clonal architecture with sub-millimetre resolution. In the oesophagus and cardia, macroscopic somatic clones that expanded to hundreds of micrometres were frequently seen, whereas in tissues such as the colon, rectum and duodenum, somatic clones were microscopic in size and evolved independently, possibly restricted by local tissue microstructures. Our study depicts a body map of somatic mutations and clonal expansions from the same individual.

Date: 2021
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DOI: 10.1038/s41586-021-03836-1

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