The mutational landscape of human somatic and germline cells

Luiza Moore, Alex Cagan, Tim H. H. Coorens, Matthew D. C. Neville, Rashesh Sanghvi, Mathijs A. Sanders, Thomas R. W. Oliver, Daniel Leongamornlert, Peter Ellis, Ayesha Noorani, Thomas J. Mitchell, Timothy M. Butler, Yvette Hooks, Anne Y. Warren, Mette Jorgensen, Kevin J. Dawson, Andrew Menzies, Laura O’Neill, Calli Latimer, Mabel Teng, Ruben Boxtel, Christine A. Iacobuzio-Donahue, Inigo Martincorena, Rakesh Heer, Peter J. Campbell, Rebecca C. Fitzgerald, Michael R. Stratton () and Raheleh Rahbari ()
Additional contact information
Luiza Moore: Wellcome Sanger Institute
Alex Cagan: Wellcome Sanger Institute
Tim H. H. Coorens: Wellcome Sanger Institute
Matthew D. C. Neville: Wellcome Sanger Institute
Rashesh Sanghvi: Wellcome Sanger Institute
Mathijs A. Sanders: Wellcome Sanger Institute
Thomas R. W. Oliver: Wellcome Sanger Institute
Daniel Leongamornlert: Wellcome Sanger Institute
Peter Ellis: Wellcome Sanger Institute
Ayesha Noorani: Wellcome Sanger Institute
Thomas J. Mitchell: Wellcome Sanger Institute
Timothy M. Butler: Wellcome Sanger Institute
Yvette Hooks: Wellcome Sanger Institute
Anne Y. Warren: Cambridge University Hospitals NHS Foundation Trust
Mette Jorgensen: Great Ormond Street Hospital for Children NHS Foundation Trust
Kevin J. Dawson: Wellcome Sanger Institute
Andrew Menzies: Wellcome Sanger Institute
Laura O’Neill: Wellcome Sanger Institute
Calli Latimer: Wellcome Sanger Institute
Mabel Teng: Wellcome Sanger Institute
Ruben Boxtel: Princess Máxima Center for Pediatric Oncology and Oncode Institute
Christine A. Iacobuzio-Donahue: Johns Hopkins University School of Medicine
Inigo Martincorena: Wellcome Sanger Institute
Rakesh Heer: Newcastle University
Peter J. Campbell: Wellcome Sanger Institute
Rebecca C. Fitzgerald: MRC Cancer Unit, University of Cambridge
Michael R. Stratton: Wellcome Sanger Institute
Raheleh Rahbari: Wellcome Sanger Institute

Nature, 2021, vol. 597, issue 7876, 381-386

Abstract: Abstract Over the course of an individual’s lifetime, normal human cells accumulate mutations1. Here we compare the mutational landscape in 29 cell types from the soma and germline using multiple samples from the same individuals. Two ubiquitous mutational signatures, SBS1 and SBS5/40, accounted for the majority of acquired mutations in most cell types, but their absolute and relative contributions varied substantially. SBS18, which potentially reflects oxidative damage2, and several additional signatures attributed to exogenous and endogenous exposures contributed mutations to subsets of cell types. The rate of mutation was lowest in spermatogonia, the stem cells from which sperm are generated and from which most genetic variation in the human population is thought to originate. This was due to low rates of ubiquitous mutational processes and may be partially attributable to a low rate of cell division in basal spermatogonia. These results highlight similarities and differences in the maintenance of the germline and soma.

Date: 2021
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DOI: 10.1038/s41586-021-03822-7

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