Polymorphisms of the porcine androgen receptor gene affecting its amino acid sequence and expression level.

Diverse physiological effects of the androgen receptor (AR), a nuclear transcription factor, and its mapping position within a quantitative trait loci (QTL) region on chromosome X propose it as an interesting candidate gene for pig reproduction and performance. Therefore, the aims of this study were isolation of the gene and detection of polymorphisms as a tool for association study and analysis of functional properties of the porcine AR. The mRNA and promoter sequences were obtained and screened for polymorphisms. Based on comparative sequencing, eight single nucleotide polymorphisms (SNPs), TG- and T-insertion/deletetion polymorphisms (INDELs) upstream transcription initiation sites, three SNPs in the 5'-untranslated region (UTR), one microsatellite (CCTTT)n in the intron of 5'-UTR, and a CAG-INDEL in exon 1 were detected. Two haplotypes originated from Duroc and Berlin Miniature Pig were segregating in the DUMI-F2 resource population. Characterization of the porcine AR promoter showed two conserved transcription start sites, a consensus sequence of GC-box and a homopurine/homopyrimidine stretch at similar locations compared to the human, rat and mouse as well as sequences similar to androgen response elements (ARE). The AR mRNA expression levels determined by real-time RT-PCR in various tissues of female pigs were high in ovary (100%) and adrenal gland (83.9% relative to ovary), moderate in uterus (61.6%) and liver (47.4%), and low in pituitary gland (1.3%) as well as in tonsil, muscle, mammary gland, leukocyte and jejunum (less than 1%). Detection of the AR mRNA transcripts in liver revealed that hemizygous males carrying the AR haplotype descended from Berlin Miniature pig had higher relative AR expressions than did those with the Duroc haplotype. Here we showed that the porcine AR is a highly polymorphic gene. Polymorphisms identified in the present study affect the predicted amino acid sequence as well as consensus transcription factor binding sites and are associated with the allele-specific differences of the AR mRNA transcript level in liver, reinforcing AR as a potential candidate gene for traits related to pig reproduction and performance.