Mitochondrial mismatch analysis is insensitive to the mutational process.
Mismatch distributions are histograms showing the pattern of nucleotide (or restriction) site differences between pairs of individuals in a sample. They can be used to test hypotheses about the history of population size and subdivision (if selective neutrality is assumed) or about selection (if a constant population size is assumed). Previous work has assumed that mutations never strike the same site twice, an assumption that is called the model of infinite sites. Fortunately, the results are surprisingly robust even when this assumption is violated. We show here that (1) confidence regions inferred using the infinite-sites model differ little from those inferred using a model of finite sites with uniform site-specific mutation rates, and (2) even when site-specific mutation rates follow a gamma distribution, confidence regions are little changed until the gamma shape parameter falls well below its plausible range, to roughly 0.01. In addition, we evaluate and reject the proposition that mismatch waves are produced by pooling data from several subdivisions of a structured population.
Rogers
A R
AR
Department of Anthropology, University of Utah, Salt Lake City 84112, USA. rogers@anthro.utah.edu
Fraley
A E
AE
Bamshad
M J
MJ
Watkins
W S
WS
Jorde
L B
LB
D004252:DNA Mutational Analysis / Q000379:methods*; D004272:DNA, Mitochondrial / Q000235:genetics*; D005828:Genetics, Population; D006801:Humans; D008957:Models, Genetic; D008962:Models, Theoretical; D009154:Mutation
D004272:DNA, Mitochondrial