The mutational landscape of human somatic and germline cells
By
Luiza Moore,
Alex Cagan,
Tim Coorens,
Matthew D.C. Neville,
Rashesh Sanghvi,
Mathijs A Sanders,
Thomas RW 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 ONeill,
Calli Latimer,
Mabel Teng,
Ruben VanBoxtel,
Christine A. Iacobuzio-Donahue,
Inigo Martincorena,
Rakesh Heer,
Peter Campbell,
Rebecca C. Fitzgerald,
Michael Stratton,
Raheleh Rahbari
Posted 26 Nov 2020
bioRxiv DOI: 10.1101/2020.11.25.398172
During the course of a lifetime normal human cells accumulate mutations. Here, using multiple samples from the same individuals we compared the mutational landscape in 29 anatomical structures from soma and the germline. 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, potentially reflecting oxidative damage, and several additional signatures attributed to exogenous and endogenous exposures contributed mutations to subsets of cell types. The mutation rate was lowest in spermatogonia, the stem cell 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 mutation processes and may be partially attributable to a low cell division rate of basal spermatogonia. The results provide important insights into how mutational processes affect the soma and germline.
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