Genomics of high altitude adaptation in Andean horses

Principal Investigator:

Dr. Sher Hendrickson
Shepherd University
Department of Biology

EPSCoR research entitled “Genomics of high altitude adaptation in Andean horses”. Most animals are well adapted to living in lowland environments with high oxygen levels, however several organisms, including populations of humans and other resident mountain species have undergone genetic changes that enable them to deal with hypoxia and survival in harsh altitudinal conditions. Understanding how genomes have changed in extreme environments may give us key insights into important physiological pathways. To uncover the genetic adaptations for survival at high altitude, Dr. Hendrickson completed a Genome Wide Association Study (GWAS) of ~50, 000 known mutations, or single nucleotide polymorphisms (SNPs) in a model species, the Andean horse. In a comparison of a population of feral horses left by the conquistadors in the high Andes over 500 years ago and horse breeds living at lower elevation, Dr. Hendrickson identified ~155 candidate genes. Dr. Hendrickson deep sequenced four complete horse genomes to validate the functional impact of coding variants on the proteins produced, and identify new variants in candidate genes unique to the high altitude population. Dr. Hendrickson has been developing new analysis pipelines for genome annotation, SNP discovery, functional definition, and comparison of different genomes in a non-human model species.

Results from the project made an impact beyond the bounds of science, engineering, and the academic world: In a time of rapid environmental and climate change, a clear and urgent challenge for conservation and evolutionary biologists is to understand how genetic architecture changes in response to the ecosystem. Dr. Hendrickson collected hair and ear clip samples from the feral horses’ population for genetic analysis during the annual round-up of the wild bands. Local Chagras assisted.