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Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA

Nature Genetics volume 14, pages 146–151 (1996)Cite this article

Abstract

Mitochondrial DNA (mtDNA) is maternally inherited in mammals. Despite the high genome copy number in mature oocytes (105) and the relatively small number of cell divisions in the female germline, mtDNA sequence variants segregate rapidly between generations. To investigate the molecular basis for this apparent paradox we created lines of heteroplasmic mice carrying two mtDNA genotypes. We show that the pattern of segregation can be explained by random genetic drift ocurring in early oogenesis, and that the effective number of segregating units for mtDNA is ∼200 in mice. These results provide the basis for estimating recurrence risks for mitochondrial disease due to pathogenic mtDNA mutations and for predicting the rate of fixation of neutral mtDNA mutations in maternal lineages.

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Authors and Affiliations

  1. Montreal Neurological Institute, 3801 University Street, Montreal, Quebec, Canada, H3A 2B4

    Jack P. Jenuth, Alan C. Peterson, Katherine Fu & Eric A. Shoubridge

  2. Departmentof Human Genetics, McGill University, 1205 avenue Dr. Penfield, Montreal, Quebec, Canada, H3A 1B1

    Katherine Fu & Eric A. Shoubridge

  3. Molecular Oncology Group McGill University, 687 Pine Avenue West, Montreal, Quebec, Canada, H3A 1A1

    Jack P. Jenuth & Alan C. Peterson

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  1. Jack P. Jenuth
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Correspondence to Eric A. Shoubridge.

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Jenuth, J., Peterson, A., Fu, K. et al. Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA. Nat Genet 14, 146–151 (1996). https://doi.org/10.1038/ng1096-146

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