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14.7. Inherent mosaicism and extensive mutation of human placentas

Coorens Tim H H , Oliver Thomas R W , Sanghvi Rashesh , Sovio Ulla , Cook Emma , Vento-Tormo Roser , Haniffa Muzlifah , Young Matthew D , Rahbari Raheleh , Sebire Neil , Campbell Peter J , Charnock-Jones D Stephen , Smith Gordon CS , Behjati Sam

Nature 2021; 592: 8085https://www.nature.com/articles/s41586-021-03345-1These authors performed whole-genome sequencing (WGS) of 86 bulk placental samples and of 106 microdissections of placental tissue in order to reconstruct the development of human placental cells from data on somatic mutations. They found that the placenta comprises of multiple very large, genetically dis...

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ey0019.14-16 | Genetics | ESPEYB19

14.16. The mutational landscape of human somatic and germline cells

Moore Luiza , Cagan Alex , Coorens Tim H H , Neville Matthew D C , Sanghvi Rashesh , Sanders Mathijs A , Oliver Thomas R W , Leongamornlert Daniel , Ellis Peter , Noorani Ayesha , Mitchell Thomas J , Butler Timothy M , Hooks Yvette , Warren Anne Y , Jorgensen Mette , Dawson Kevin J , Menzies Andrew , O'Neill Laura , Latimer Calli , Teng Mabel , van Boxtel Ruben , Iacobuzio-Donahue Christine A , Martincorena Inigo , Heer Rakesh , Campbell Peter J , Fitzgerald Rebecca C , Stratton Michael R , Rahbari Raheleh

Nature. 2021 Sep;597(7876):381386. 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...

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ESPE Yearbook of Paediatric Endocrinology

14.7. Inherent mosaicism and extensive mutation of human placentas

14.16. The mutational landscape of human somatic and germline cells

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