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Human Reproduction, Vol. 15, No. suppl_2, pp. 102-111, 2000
© 2000 European Society of Human Reproduction and Embryology

Evolutionary origin and consequences of uniparental mitochondrial inheritance

Rolf F. Hoekstra1

Laboratory, of Genetics, Department of Plant Sciences, Wageningen University Wageningen, the Netherlands

Correspondence: 1To whom correspondence should be addressed at: Laboratory of Genetics, Department of Biomolecular Sciences, Wageningen University, Dreijenlaan 2, NL-6703 HA Wageningen, the Netherlands. E-mail: rolf.hoekstra{at}popgen.el.wau.nl

In the great majority of sexual organisms, cytoplasmic genomes such as the mitochondrial genome are inherited (almost) exclusively through only one, usually the maternal, parent. This rule probably evolved to minimize the potential spread of selfish cytoplasmic genomic mutations through a species. Maternal inheritance creates an asymmetry between the sexes from which several evolutionary consequences follow. Because natural selection on mitochondria operates only in females, mitochondrial mutations may have more deleterious effects in males than in females. Strictly uniparental inheritance creates asexual mitochondrial lineages that are vulnerable to mutation accumulation (Muller's ratchet). There is evidence that over evolutionary time mitochondrial genomes have indeed accumulated slightly deleterious mutations. Mutation accumulation in animal mitochondrial genomes is probably slowed down mainly by two processes: a severe reduction in germline mitochondrial genome copy number at some point in the life cycle, enabling more effective elimination of mutations by natural selection, and occasional recombination between maternal and paternal mitochondrial genomes following paternal leakage.

Key words: evolution/maternal inheritance/mitochondria/mitochondrial DNA/mtDNA mutations


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