Molecular Biology and Evolution, Vol 12, 887-892, Copyright © 1995 by Society for Molecular Biology and Evolution
G Bertorelle and M Slatkin
The frequency distribution of pairwise differences between sequences of
mtDNA has recently been used to estimate the size of human populations
before and after a hypothetical episode of rapid population growth and the
time at which the population grew. To test the internal consistency of this
method, we used three different sets of human mtDNA data and the
corresponding demographic parameters estimated from the distribution of
pairwise differences to determine by simulation the expected number of
segregating sites, S, and its empirical distribution. The results indicate
that the observed values of S are significantly lower than expected in two
of three cases under the assumption of the infinite-sites model. Further
simulations in which mutations were allowed to occur more than once at the
same site and in which there was variation in mutation rate among sites
show that the expected number of segregating sites can be much lower than
under the infinite-site assumption. Nevertheless, the observed value of S
is still significantly different from the value expected under the
expansion hypothesis in two of three cases.
ORIGINAL ARTICLE
The number of segregating sites in expanding human populations, with implications for estimates of demographic parameters
Dipartimento di Biologia, Universita di Padova, Italy.
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