Article
Replication Errors Made During Oogenesis Lead to Detectable De Novo mtDNA Mutations in Zebrafish Oocytes with a Low mtDNA Copy Number.
Genetics - 1 Dec 2016
Otten Auke B C, Stassen Alphons P M, Adriaens Michiel, Gerards Mike, Dohmen Richard G J, Timmer Adriana J, Vanherle Sabina J V, Kamps Rick, Boesten Iris B W, Vanoevelen Jo M, Muller Marc, Smeets Hubert J M
Abstract excerpt
Of all pathogenic mitochondrial DNA (mtDNA) mutations in humans, ∼25% is de novo, although the occurrence in oocytes has never been directly assessed. We used next-generation sequencing to detect point mutations directly in the mtDNA of 3-15 individual mature oocytes and three somatic tissues from eight zebrafish females. Various statistical and biological filters allowed reliable detection of de novo variants...
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