Molecular Biology and Evolution, Vol 16, 246-252, Copyright © 1999 by Society for Molecular Biology and Evolution
M Przeworski, B Charlesworth and JD Wall
The assumption that selection alters the genealogical tree of a sample of
alleles from a population relative to the neutral expectation underlies
several "tests of neutrality." Two recent papers have studied the effect of
purifying selection; their suggestive but incomplete results indicate that,
in the single site case, the shape of a gene genealogy for a locus may
differ only from the neutral expectation. We verify this finding for weak
selection using the "ancestral selection graph." We consider a wider range
of models, including both a four- allele single-site model and an
infinite-sites model. Our results confirm the previous claim for the
symmetric-mutation single site model. We emphasize, however, that a
neutral-seeming genealogy is consistent with detectable effects of
selection on the distribution of allele frequences within the sample. With
selection operating, the information about a sample cannot be reduced to
the genealogy. As a result, a distinction needs to be made between the
selected sites themselves, for which the genealogy offers insufficient
information, and linked neutral variation. This distinction seems to have
been overlooked in previous papers, yet it has significant implications for
the interpretation of data on DNA sequence variation. In particular, it
predicts that under purifying selection, the frequency spectrum of neutral
mutations will not reflect the skew toward rare polymorphisms at
replacement sites even if there is no recombination between them. We
caution, however, that the effect of weak selection on the genealogy is
specific to the model; a (more realistic) model of multiple linked sites
could lead to a more distorted genealogy than is observed for a single
site.
ORIGINAL ARTICLE
Genealogies and weak purifying selection
University of Chicago, Illinois 60637, USA. mfprzewo@harper.uchicago.edu
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