Abstract:
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Evolutionary changes in the genome under extreme environmental conditions have important implications for our understanding of health and physiology. Following a recent study of high altitude genomics in a population of horses living in hypoxic conditions [1], the genomes of one Andean and three Arabian horses were sequenced at 40-80X coverage. An initial analysis using SNPeff, which estimates the impact of single nucleotide polymorphisms (SNPs) across the genome, revealed 38 moderate to high impact SNPs, affecting RYR1's function, which was a much larger number in comparison to the rest of the genome. This excess has been observed in other horse breeds and a donkey. RYR1, coding for the Ryanodine Receptor in skeletal muscle, has been linked to malignant hyperthermia susceptibility, suggesting its critical role in physiology. To further examine this gene in a range of environments, a genomics pipeline was developed to map and extract the RYR1 region from whole genome data in an additional 21 breeds. Comparisons of the SNPs and functional changes across the range of populations will serve as a model for understanding this gene's vital role in environmental adaptation.
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