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Originally published as Genetics Published Articles Ahead of Print on May 4, 2007.
Genetics, Vol. 176, 1635-1651, July 2007, Copyright © 2007
doi:10.1534/genetics.107.072371
A Markov Chain Monte Carlo Approach for Joint Inference of Population Structure and Inbreeding Rates From Multilocus Genotype Data
Hong Gao, Scott Williamson and Carlos D. Bustamante1
Department of Biological Statistics and Computational Biology, Cornell University, Ithaca, New York 14853
1 Corresponding author: 101 Biotechnology Bldg., Cornell University, Ithaca, NY 14853.
E-mail: cdb28{at}cornell.edu
Nonrandom mating induces correlations in allelic states within and among loci that can be exploited to understand the genetic structure of natural populations (WRIGHT 1965). For many species, it is of considerable interest to quantify the contribution of two forms of nonrandom mating to patterns of standing genetic variation: inbreeding (mating among relatives) and population substructure (limited dispersal of gametes). Here, we extend the popular Bayesian clustering approach STRUCTURE (PRITCHARD et al. 2000) for simultaneous inference of inbreeding or selfing rates and population-of-origin classification using multilocus genetic markers. This is accomplished by eliminating the assumption of Hardy–Weinberg equilibrium within clusters and, instead, calculating expected genotype frequencies on the basis of inbreeding or selfing rates. We demonstrate the need for such an extension by showing that selfing leads to spurious signals of population substructure using the standard STRUCTURE algorithm with a bias toward spurious signals of admixture. We gauge the performance of our method using extensive coalescent simulations and demonstrate that our approach can correct for this bias. We also apply our approach to understanding the population structure of the wild relative of domesticated rice, Oryza rufipogon, an important partially selfing grass species. Using a sample of n = 16 individuals sequenced at 111 random loci, we find strong evidence for existence of two subpopulations, which correlates well with geographic location of sampling, and estimate selfing rates for both groups that are consistent with estimates from experimental data (s 
0.48–0.70).
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Genetics 2007 176: NP.
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