Ontology highlight
ABSTRACT:
SUBMITTER: Floros VI
PROVIDER: S-EPMC6551220 | biostudies-literature | 2018 Feb
REPOSITORIES: biostudies-literature
Floros Vasileios I VI Pyle Angela A Dietmann Sabine S Wei Wei W Tang Walfred C W WCW Irie Naoko N Payne Brendan B Capalbo Antonio A Noli Laila L Coxhead Jonathan J Hudson Gavin G Crosier Moira M Strahl Henrik H Khalaf Yacoub Y Saitou Mitinori M Ilic Dusko D Surani M Azim MA Chinnery Patrick F PF
Nature cell biology 20180115 2
Mitochondrial DNA (mtDNA) mutations cause inherited diseases and are implicated in the pathogenesis of common late-onset disorders, but how they arise is not clear<sup>1,2</sup>. Here we show that mtDNA mutations are present in primordial germ cells (PGCs) within healthy female human embryos. Isolated PGCs have a profound reduction in mtDNA content, with discrete mitochondria containing ~5 mtDNA molecules. Single-cell deep mtDNA sequencing of in vivo human female PGCs showed rare variants reachi ...[more]