Finding the Genes Underlying Adaptation to Hypoxia Using Genomic Scans for Genetic Adaptation and Admixture Mapping

  • Mark D. Shriver
  • Rui Mei
  • Abigail Bigham
  • Xianyun Mao
  • Tom D. Brutsaert
  • Esteban J. Parra
  • Lorna G. Moore
Conference paper
Part of the Advances in Experimental Medicine and Biology book series (AEMB, volume 588)


The complete sequencing the human genome and recent analytical advances have provided the opportunity to perform genome-wide studies of human variation. There is substantial potential for such population-genomic approaches to assist efforts to uncover the historical and demographic histories of human populations. Additionally, these genome-wide datasets allow for investigations of variability among genomic regions. Although all genomic regions in a population have experienced the same demographic events, they have not been affected by these events in precisely the same way. Much of the variability among genomic regions is simply the result of genetic drift (i.e., gene frequency changes resulting from the effects of small breeding -population size), but some is also the result of genetic adaptation, which will only affect the gene under selection and nearby regions. We have used a new DNA typing assay that allows for the genotyping of thousands of SNPs on hundreds of samples to identify regions most likely to have been affected by genetic adaptation. Populations that have inhabited different niches (e.g., high-altitude regions) can be used to identify genes underlying the physiological differences. We have used two methods (admixture mapping and genome scans for genetic adaptation) founded on the population-genomic paradigms to search for genes underlying population differences in response to chronic hypoxia. There is great promise that together these methods will facilitate the discovery of genes influencing hypoxic response.

Key Words

admixture mapping natural selection 


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Copyright information

© Springer Science+Business Media, LLC 2006

Authors and Affiliations

  • Mark D. Shriver
    • 1
  • Rui Mei
    • 2
  • Abigail Bigham
    • 1
  • Xianyun Mao
    • 1
  • Tom D. Brutsaert
    • 3
  • Esteban J. Parra
    • 4
  • Lorna G. Moore
    • 5
  1. 1.Department of AnthropologyPenn State UniversityUniversity Park
  2. 2.Affymetrix Inc.Santa Clara
  3. 3.Department of AnthropologySUNY AlbanyAlbany
  4. 4.Department of AnthropologyUniversity of Toronto at MississaugaMississaugaCanada
  5. 5.Department of Anthropology and Colorado Center for Altitude Medicine and PhysiologyUniversity of Colorado at Denver and Health Sciences CenterDenverUSA

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