From Phenotype to QTN and Back: Identification and Characterization of a Genetic Variant of the Porcine Glucocorticoid Receptor With a Major Effect on HPA Axis Activity

Abstract Text:

Glucocorticoids play a vital role in the maintenance of basal and stress-related homeostasis and influence productivity, health, and well-being of farm animals. Their production is under the control of the hypothalamic-pituitary-adrenocortical (HPA) axis. We performed genetic studies of the HPA axis in pigs and showed that a natural substitution Ala610Val in the ligand binding domain of the glucocorticoid receptor gene (GR_Ala610Val) is a major quantitative trait nucleotide for HPA axis activity and cortisol production. Investigation of the molecular function of the GR_Ala610Val substitution revealed that this leads to a higher sensitivity of the receptor by increasing its affinity for glucocorticoids. The effect of the GR_Ala610Val substitution on production traits is less clear; we found association of the substitution with increased fat and decreased muscle deposition in a population of German Landrace pigs, however we could not replicate the association in other populations.

Keywords:

QTL

QTN

HPA axis

Glucocorticoid receptor