Hemochromatosis is liver disorder in which excess iron is stored in the liver, leading to iron overload and extensive liver damage that can prove fatal. Based on human precedence, a genetic cause for idiopathic hemochromatosis in horses is suspected. Two horses with hemochromatosis were whole genome sequenced, with variants in candidate genes prioritized in analyses of potential pathogenicity. No clear putative variants were found to be present in both horses, suggesting an etiology more complex than the initially suspected Mendelian inheritance. A heterozygous nonsense mutation in STEAP3 metalloreductase (STEAP3) was identified as a potential contributor to hemochromatosis in one of the horses.
South Dakota State University
Copyright © 2023 Anna M. Rauber-Ramos
Rauber-Ramos, Anna M., "Whole Genome Sequencing for Identification of Putative Causative Alleles for Hemochromatosis in Horses" (2023). Schultz-Werth Award Papers. 46.