Intra-individual purifying selection on mitochondrial DNA variants during human oogenesis.

ABSTRACT:

Study question

Does selection for mtDNA mutations occur in human oocytes?

Summary answer

We provide statistical evidence in favor of the existence of purifying selection for mtDNA mutations in human oocytes acting between the expulsion of the first and second polar bodies (PBs).

What is known already

Several lines of evidence in Metazoa, including humans, indicate that variation within the germline of mitochondrial genomes is under purifying selection. The presence of this internal selection filter in the germline has important consequences for the evolutionary trajectory of mtDNA. However, the nature and localization of this internal filter are still unclear while several hypotheses are proposed in the literature.

Study design, size, duration

In this study, 60

SUBMITTER: De Fanti S 

PROVIDER: S-EPMC5850138 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature