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Biol Lett. Jun 23, 2009; 5(3): 397–400.
Published online Mar 25, 2009. doi:  10.1098/rsbl.2009.0104
PMCID: PMC2679937
Modelling mitochondrial site polymorphisms to infer the number of segregating units and mutation rate
Michael D. Hendy,1* Michael D. Woodhams,1 and Andrew Dodd2
1Allan Wilson Centre, Massey University, Palmerston North 4474, New Zealand
2Allan Wilson Centre, Massey University, Auckland 0745, New Zealand
*Author for correspondence (m.hendy/at/
Present address: School of Information Technologies, University of Sydney, Sydney, New South Wales 2006, Australia.
Present address: Summit plc, Abingdon, Oxfordshire OX14 4RY, UK.
Received February 8, 2009; Revised February 26, 2009; Accepted February 27, 2009.
We present a mathematical model of mitochondrial inheritance evolving under neutral evolution to interpret the heteroplasmies observed at some sites. A comparison of the levels of heteroplasmies transmitted from mother to her offspring allows us to estimate the number Nx of inherited mitochondrial genomes (segregating units). The model demonstrates the necessity of accounting for both the multiplicity of an unknown number Nx, and the threshold θ, below which heteroplasmy cannot be detected reliably, in order to estimate the mitochondrial mutation rate μm in the maternal line of descent. Our model is applicable to pedigree studies of any eukaryotic species where site heteroplasmies are observed in regions of the mitochondria, provided neutrality can be assumed. The model is illustrated with an analysis of site heteroplasmies in the first hypervariable region of mitochondrial sequence data sampled from Adélie penguin families, providing an estimate Nx and μm. This estimate of μm was found to be consistent with earlier estimates from ancient DNA analysis.
Keywords: mitochondrial DNA, mutation rate, segregating units, pedigree analysis, Adélie penguins
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