Deleterious mtDNA mutations are common in mature oocytes.
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ABSTRACT:
SUBMITTER: Ma H
PROVIDER: S-EPMC7068114 | biostudies-literature | 2020 Mar
REPOSITORIES: biostudies-literature
Publications
Deleterious mtDNA mutations are common in mature oocytes.
Ma Hong H Hayama Tomonari T Van Dyken Crystal C Darby Hayley H Koski Amy A Lee Yeonmi Y Gutierrez Nuria Marti NM Yamada Satsuki S Li Ying Y Andrews Michael M Ahmed Riffat R Liang Dan D Gonmanee Thanasup T Kang Eunju E Nasser Mohammed M Kempton Beth B Brigande John J McGill Trevor J TJ Terzic Andre A Amato Paula P Mitalipov Shoukhrat S
Biology of reproduction 20200301 3
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. ...[more]
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