Deleterious mtDNA mutations are common in mature oocytes

Hong Ma, Tomonari Hayama, Crystal Van Dyken, Hayley Darby, Amy Koski, Yeonmi Lee, Nuria Marti Gutierrez, Satsuki Yamada, Ying Li, Michael Andrews, Riffat Ahmed, Dan Liang, Thanasup Gonmanee, Eunju Kang, Mohammed Nasser, Beth Kempton, John Brigande, Trevor J. McGill, Andre Terzic, Paula AmatoShoukhrat Mitalipov

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


Heritable mitochondrial DNA (mtDNA) mutations are common, yet only a few recurring pathogenic mtDNA variants account for the majority of known familial cases in humans. Purifying selection in the female germline is thought to be responsible for the elimination of most harmful mtDNA mutations during oogenesis. Here we show that deleterious mtDNA mutations are abundant in ovulated mature mouse oocytes and preimplantation embryos recovered from PolG mutator females but not in their live offspring. This implies that purifying selection acts not in the maternal germline per se, but during post-implantation development. We further show that oocyte mtDNA mutations can be captured and stably maintained in embryonic stem cells and then reintroduced into chimeras, thereby allowing examination of the effects of specific mutations on fetal and postnatal development.

Original languageEnglish (US)
Pages (from-to)607-619
Number of pages13
JournalBiology of Reproduction
Issue number3
StatePublished - Mar 13 2020


  • mitochondria
  • mtDNA
  • oocyte

ASJC Scopus subject areas

  • Reproductive Medicine


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