Altitude Adaptation Overview

Altitude Adaptation
US$ 94.00 RRP

Category: Trait (Associated with Phenotype)

Gene: ESPA1

Variant Detected: SNPs c.925G>A, c.1494T>G, c.1510G>A and c.2260C>T

Severity: Scale 1 has a very low degree of severity. It is a trait and so is tested based on preference, not usually for health concerns.

Mode of Inheritance: Autosomal Recessive

Test Overview: The EPAS1 gene is in complete linkage disequilibrium and form a haplotype associated with adaptation to high altitudes [1]. The study by Gou et al. 2014 divided dogs by region in China (low altitude [Kunming- Yingjiang], moderate altitude [Lijiang] and high altitude [Cuomei, Tibet]), and found that the frequency of this haplotype is fixed in breeds from high altitudes, for example the Tibetan Mastiff (allele frequency 94%). Breeds that are domesticated in low altitude environments (Kunming dogs) almost never have this haplotype [0% n=41 dogs]. In humans, EPAS1 variants have also been shown to be associated with adaption to high altitudes [2], this gene encodes a transcription factor involved in the induction of genes regulated by oxygen, which is induced as oxygen levels fall. In a homozygous state, the c.925G>A SNP was found to be associated with decreased vascular resistance suggesting that the improvement of blood fluidity, would confer advantages for oxygen delivery in oxygen deprived environments.

Research Citation(s): Gou X, et al. Genome Res, 2014 Aug, PMID: 24721644
Hu H, et al. PLoS Genet, 2017 Apr. PMID 28448578

Associated Breed(s): All Breeds (Canine),  Mixed Breed,