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Abstract
Abstract. Quantitative trait loci, QTL, for fatness and carcass traits in pigs have been recently mapped to the X chromosome approximately at the position where the androgen receptor gene (AR) is localized. The AR acts as a nuclear transcription factor regulating expression of a number of androgenic response genes during various stages of sexual development. The present study aimed to analyze association of the AR genotype on traits related to fatness and phenotype of primary female sexual organs, ovary and uterus. Animals of a F2 resource population based on Duroc and Berlin Miniature pig were genotyped at a multi-allelic microsatellite marker (CCTTT)n situated in the 5' untranslated region and a bi-allelic CAG-insertion/deletion polymorphism (CAG-INDEL) within exon 1 of the AR. Association analysis showed that the AR genotype both at the CAG-INDEL and microsatellite affect almost all fatness traits measured. The D allele inherited from Duroc was associated with the decrease of fat thickness. The AR genotypes also affect uterus and ovary measurements. The pigs homozygous for D allele were likely to have a lighter uterus, shorter uterus horns, oviducts and smaller ovaries than pigs homozygous for the M allele. Our results confirm the previously reported QTL for fatness traits and provide evidence for a QTL affecting dimensions of uterus and ovary on the X chromosome. The AR is a positional functional candidate gene for both trait complexes.
Highlights
The androgen receptor is classically activated by the binding of androgens
Analyses were done in a three-generation porcine F2 resource population (DUMI resource population) that was established by reciprocal crossbreeding of Duroc and Berlin Miniature Pig breeds (HARDGE et al, 1999)
Since the Duroc and Berlin Miniature pig founders were fixed for different alleles at the CAG-INDEL, all F1 sows were heterozygous and the genotypic ratio of their F2 followed X-linked inheritance pattern
Summary
The androgen receptor is classically activated by the binding of androgens. Two most important androgens are testosterone and 5α-dihydrotestosterone. A number of genes participating in cell metabolism, activity and response have been shown to be regulated by androgens (NANTERMET et al, 2004; NELSON et al, 2002). The AR has been shown to be expressed in diverse tissues like prostate, testis, ovary, uterus, mammary gland, anterior pituitary, thyroid, adrenal cortex, liver, muscle as well as bone during stages suggesting its importance for normal development and function of those tissues (PELLETIER, 2000; SLOMCZYNSKA et al, 2001; TRIPEPI et al, 2000). The AR is a functional and positional candidate gene for production and reproduction traits in pigs. The AR genotype at the CAG-insertion/deletion (INDEL) in the exon 1 and the CCTTT(n) microsatellite in 5 ́-untranslated region were analyzed for associations on production and reproduction traits like fat thickness, uterus and ovary dimensions
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