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Understanding the Persistence of Deleterious Variation Across Taxa

  • Author(s): Mooney, Jazlyn
  • Advisor(s): Lohmueller, Kirk
  • et al.
Abstract

The genetic architecture of complex traits in humans has received considerable attention in the past few years, especially with the advent of large biobank data sets, which provide valuable insights about complex traits in humans. However, there are still outstanding questions about the genetic variation that contributes to disease phenotypes. For my dissertation research, I am examining the joint impact of population history and natural selection in order to determine how these forces have allowed for deleterious variation to accumulate in populations. First, I will determine how recent demography affects patterns of deleterious variation in human population isolates. Second, I will test how long-term small population size impacts genetic diversity and the distribution of deleterious variation in Ethiopian wolves. Lastly, I will use dogs as a model system to test how recent demography and artificial selection affect the distribution of deleterious variation and architecture of complex traits in breed dogs. Taken together, my research will allow us to develop a more complete picture of how demography shapes patterns of deleterious variation.

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