ESPEYB19 14. Science and Medicine Genetics (2 abstracts)
14.16. 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 van Boxtel , Christine A Iacobuzio-Donahue , Inigo Martincorena , Rakesh Heer , Peter J Campbell , Rebecca C Fitzgerald , Michael R Stratton & Raheleh Rahbari
Nature. 2021 Sep;597(7876):381–386. doi: 10.1038/s41586-021-03822-7.
Brief Summary: This study investigated the mutational background of somatic cells and rates of mutation in 29 distinct anatomical structures and compared these with the male germline from the same donor. The rate of mutation was lowest in spermatogonia.
Characterization of mutations that occur in human cells during the lifetime of an individual is challenging due to the differences between cell clones. Studies on somatic cell types have shown differences between clonal structures, rate of mutations and the effect of driver mutations on growth advantage. On the other side, trio analyses have demonstrated that ~80% of inherited germline mutations arise in the paternal germline.
Mutation burden varies between the different cell types, most likely due to differences in mutation rates. The lowest mutation burden and rate was found in seminiferous tubules, predominantly composed of germline cells, indicating that the low germline mutation rate is an intrinsic feature of the male germline compared with the soma and not the result of sperm selection during development. Although the mechanisms producing mutagenesis seem to be the same for both germline and soma, the germline somehow is able to limit the mutation rate, which seems to be a beneficial strategy for reproduction.
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ESPE Yearbook of Paediatric Endocrinology
ISSN 1662-4009 (Online)
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