Adaptation to high-altitude hypoxia
Affected Genes: EPAS1
Inheritance: Autosomal Dominant Inheritance
Variant(canFam6):
chr10:48481655 G>A
Breed: Tibetan Mastiff
General Information: Adaptation to high-altitude hypoxia in certain dog breeds is linked to a genetic variant in the EPAS1 gene, also known as the "hypoxia-inducible factor." This adaptation enhances the ability to tolerate low oxygen levels, a trait observed in breeds native to high-altitude regions, such as Tibetan Mastiffs. The EPAS1 variant reduces the physiological stress caused by hypoxia, enabling dogs to thrive in environments with lower oxygen availability. The condition is inherited in an Autosomal Dominant manner, meaning that only one copy of the genetic variant from either parent is sufficient to confer this adaptation.
Traits associated with this adaptation include improved oxygen delivery to tissues, increased red blood cell efficiency, and better regulation of hemoglobin levels at high altitudes. These traits reduce the risks of hypoxia-induced complications, such as fatigue, reduced stamina, and organ stress, making these breeds well-suited for high-altitude living and working conditions. This adaptation is a result of natural selection in high-altitude environments.
How to Read Your Dog's Test Results for this Genetic Variant:
Two Variants Detected: Dog Highly Adapted to High Altitudes
One Variant Detected: Dog Moderately Adapted to High Altitudes
No Variants Detected: No Adaptation
Gene / Testing Information: Genetic testing for the EPAS1 gene variant can identify whether a dog is adapted to high-altitude environments. This adaptation is inherited in an Autosomal Dominant manner, so a dog needs only one copy of the variant to benefit from this trait. Dogs with two copies of the variant are likely to show enhanced adaptation, while those with no copies will not possess this trait and may be less suited for high-altitude environments.
Testing is particularly valuable for breeding practices in high-altitude regions. Breeding dogs with the EPAS1 variant can help ensure offspring are better adapted to these challenging environments, supporting their health and performance in such conditions.
References:
Gou X, Wang Z, Li N, Qiu F, Xu Z, Yan D, Yang S, Jia J, Kong X, Wei Z, Lu S, Lian L, Wu C, Wang X, Li G, Ma T, Jiang Q, Zhao X, Yang J, Liu B, Wei D, Li H, Yang J, Yan Y, Zhao G, Dong X, Li M, Deng W, Leng J, Wei C, Wang C, Mao M, Zhang H, Ding G, Li Y. Whole-genome sequencing of six dog breeds from continuous altitudes reveals adaptation to high-altitude hypoxia. Genome Res 2014 24(8):1308-15.