Genealogy-based methods for inference of historical recombination and gene flow and their application in Saccharomyces cerevisiae

PLoS One. 2012;7(11):e46947. doi: 10.1371/journal.pone.0046947. Epub 2012 Nov 30.

Abstract

Genetic exchange between isolated populations, or introgression between species, serves as a key source of novel genetic material on which natural selection can act. While detecting historical gene flow from DNA sequence data is of much interest, many existing methods can be limited by requirements for deep population genomic sampling. In this paper, we develop a scalable genealogy-based method to detect candidate signatures of gene flow into a given population when the source of the alleles is unknown. Our method does not require sequenced samples from the source population, provided that the alleles have not reached fixation in the sampled recipient population. The method utilizes recent advances in algorithms for the efficient reconstruction of ancestral recombination graphs, which encode genealogical histories of DNA sequence data at each site, and is capable of detecting the signatures of gene flow whose footprints are of length up to single genes. Further, we employ a theoretical framework based on coalescent theory to test for statistical significance of certain recombination patterns consistent with gene flow from divergent sources. Implementing these methods for application to whole-genome sequences of environmental yeast isolates, we illustrate the power of our approach to highlight loci with unusual recombination histories. By developing innovative theory and methods to analyze signatures of gene flow from population sequence data, our work establishes a foundation for the continued study of introgression and its evolutionary relevance.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, Non-P.H.S.

MeSH terms

  • Algorithms
  • Alleles
  • Chromosome Mapping
  • Evolution, Molecular
  • Gene Flow*
  • Genealogy and Heraldry*
  • Genetic Loci
  • Genetic Variation
  • Genetics, Population
  • Genome, Fungal*
  • Models, Genetic
  • Phylogeny
  • Recombination, Genetic*
  • Saccharomyces cerevisiae / classification
  • Saccharomyces cerevisiae / genetics*
  • Saccharomyces cerevisiae Proteins / classification
  • Saccharomyces cerevisiae Proteins / genetics*
  • Selection, Genetic
  • Sequence Analysis, DNA

Substances

  • Saccharomyces cerevisiae Proteins

Grants and funding

This work was supported in part by a National Science Foundation CAREER Grant (DBI-0846015; http://www.nsf.gov/) and a Packard Fellowship for Science and Engineering (http://www.packard.org/) to Y.S.S., and an Ellison Medical Foundation New Scholar Award in Aging (http://www.ellisonfoundation.org/) to R.B.B. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.