Molecular Biology and Evolution, Vol 13, 494-504, Copyright © 1996 by Society for Molecular Biology and Evolution
S Aris-Brosou and L Excoffier
In order to study the effect of mutation rate heterogeneity on patterns of
DNA polymorphism, we simulated samples of DNA sequences with gamma-
distributed nucleotide substitution rates in stationary and expanding
populations. We find that recent population expansions and mutation rate
heterogeneity have similar effects on several polymorphism indicators, like
the shape and the mean of the observed pairwise difference distribution, or
the number of segregating sites. The inferred size of population expansion
thus appears overestimated if nucleotides have dissimilar substitution
rates. Interestingly, population expansion and uneven mutation rates have
contrasting effects on Tajima's D statistic when acting separately, and the
consequence on the associated test of selective neutrality is investigated.
The patterns of polymorphism of several human populations analyzed for the
mitochondrial control region are examined, mainly showing the difficulty in
quantifying the respective contribution of past demographic history and
uneven mutation rates from a single sampled evolutionary process. However,
substitution rates appear more heterogeneous in the second hypervariable
segment of the control region than in the first segment.
ORIGINAL ARTICLE
The impact of population expansion and mutation rate heterogeneity on DNA sequence polymorphism
Institut National Agronomique Paris-Grignon, France.
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