Originally published as Genetics Published Articles Ahead of Print on May 23, 2005.

Genetics, Vol. 170, 1385-1399, July 2005, Copyright © 2005
doi:10.1534/genetics.104.039495

Germline Bottlenecks, Biparental Inheritance and Selection on Mitochondrial Variants

A Two-Level Selection Model

* School of Biological Sciences, University of Edinburgh, Edinburgh EH9 3JT, United Kingdom
{dagger} Laboratoire Génétique et Environnement, Institut des Sciences de l'Evolution, 34095 Montpellier Cedex 5, France
{ddagger} Génétique et Evolution des Maladies Infectieuses, Institut de Recherche pour le Développement, 34394 Montpellier Cedex 5, France

1 Corresponding author: School of Biological Sciences, University of Edinburgh, King's Bldgs., W. Mains Rd., Edinburgh EH9 3JT, United Kingdom.
E-mail: denis.roze{at}ed.ac.uk

Selection on mitochondrial mutations potentially occurs at different levels: at the mitochondria, cell, and organism levels. Several factors affect the strength of selection at these different levels; in particular, mitochondrial bottlenecks during germline development and reduced paternal transmission decrease the genetic variance within cells, while they increase the variance between cells and between organisms, thus decreasing the strength of selection within cells and increasing the strength of selection between cells and organisms. However, bottlenecks and paternal transmission also affect the effective mitochondrial population size, thus affecting genetic drift. In this article, we use a simple model of a unicellular life cycle to investigate the effects of bottlenecks and paternal transmission on the probability of fixation of mitochondrial mutants and their frequency at mutation-selection equilibrium. We find that bottlenecks and reduced paternal transmission decrease the mean frequency of alleles with sm > sc (approximately), where sm and sc are the strengths of selection for an allele within and between cells, respectively, and increase the frequency of alleles with sm < sc. Effects on fixation probabilities are different; for example, bottlenecks reduce the fixation probability of mutants with sm > 0 (unless sm is very small relative to sc) and increase the fixation probability of mutants with sm < 0.




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