Myostatin plays a pivotal role in controlling skeletal muscle mass in mammals. Polymorphisms in its promoter region likely impact on transcription and production traits. In this study, haplotypes involving three polymorphic sites in the promoter region of the porcine myostatin gene, namely at sites 435, 447 and 879, were identified and their effect on production traits, gene expression as well as on skeletal muscle traits were analysed. Four haplotypes were revealed and the linkage disequilibrium and evolutionary relationship were assessed. The results revealed that haplotypes A, B and C are predominant in Yorkshire and Landrace, Duroc and two Chinese indigenous pig breeds (Laiwu and Dapulian) respectively. The genotypes are associated with body weight on day 21 (BW21), average daily gain from birth to day 21 (ADG1) and average daily gain from day 21 to day 70 (ADG2) (P < 0.05) in Duroc pigs. The activity of haplotype A (pGL3-A) is significantly higher than other constructs in driving reporter gene transcription (P < 0.01). As compared with CC animals, the myostatin mRNA level in BC animals is relatively lower in both semimembranosus (SM) and semitendinosus (ST) skeletal muscles, and the difference was significant in the SM muscle (P < 0.01). Moreover, the mRNA levels of MyHCI, MyHCIIa, MyHCIIb and MyHCIIx and the muscle fibre diameter and density were also compared between BC and CC animals.

The myxovirus resistance (Mx) proteins belong to the dynamin superfamily and are important for innate host defence against RNA viruses. In this study, we demonstrate that positive elements are present in the two promoter regions of -2713 to -2565 and -688 to -431 in the porcine MX1 gene. Sequencing and alignment of the amplified porcine MX1 gene promoter region identified a short interspersed repetitive element (SINE) insertion of 275 bp at site -547. At this site, allele B (an insertion of 275 bp) is dominant in Chinese indigenous pig breeds but has a workable minor allele frequency in western lean-type pig breeds. Luciferase activity was compared between promoters with and without the insertion of the 275-bp fragment in transiently transfected MARC-145 cells. The insertion of the 275-bp fragment increased the luciferase activity significantly (P < 0.05) both prior to and post-porcine reproductive and respiratory syndrome (PRRS) virus inoculation. These results suggest that the SINE insertion polymorphism at site -547 of the MX1 gene promoter region is a potential DNA marker for PRRS resistance in pigs.

Interferon gamma receptor (IFNGR) plays an important role in the biological effects of IFN-γ. In this study, porcine IFNGR1 cDNA was cloned and two transcripts both having a coding region of 1413 bp were identified. Porcine IFNGR1 cDNA shares 62.95%, 63.73%, 72.90% and 81.10% identity in nucleotide sequence; and 45.64%, 46.69%, 58.04% and 72.55% homology in amino acid sequence to those of rat, mouse, human and cattle, respectively. The porcine IFNGR1 genomic structure consists of seven exons and six introns and is located on porcine chromosome 1. The mRNA expression of porcine IFNGR1 gene is detected in all tissues examined, with strong expression in spleen and liver tissues and weak expression in cerebrum, cerebellum and uterus tissues, respectively. A different developmental pattern in IFNGR1 mRNA expression between Laiwu and Duroc breeds was revealed by real-time quantitative RT-PCR: in Duroc pigs, a significantly higher expression was found in the tissues of heart (P<0.05), liver (P<0.01), kidney (P<0.01) and skeletal muscle (P<0.05) of adult pigs compared to piglets. In porcine reproductive and respiratory syndrome virus (PRRSV)-infected Dapulian pigs, compared to the uninfected ones, the expression level of IFNGR1 mRNA in spleen was significantly up-regulated (P<0.05), whereas its expression in the lymph node was significantly down-regulated (P<0.05); in PRRSV-infected Duroc × Yorkshire × Landrace commercial pigs, however, the differences both in spleen and lymph node tissues were not significant.

Type I interferons (IFN) are important mediators of the host defence against viruses through binding to the cell surface receptors, among which the binding to type I IFN receptor 2 (IFNAR2) is the very first step initiating a complex signal transduction cascade. By using RT-PCR and 5' RACE approaches, we obtained porcine IFNAR2 cDNA, the nucleotide identity of its coding region is 57.53%, 67.45%, 74.07% and 74.63% to those of mouse, human, sheep and cattle, respectively; and the deduced protein of which shares 38.18%, 55.29%, 62.01% and 63.39% identity to those of mouse, human, sheep and cattle, respectively. The genomic structure of porcine IFNAR2 gene consists of nine exons and eight introns. Porcine IFNAR2 mRNA expression was detected in all tissues examined, being strong in the spleen, small intestine, cerebrum and uterus tissues and relatively weak in the stomach tissues. As compared with piglets, the expression of IFNAR2 mRNA was significantly higher in both liver and spleen of Laiwu adult pigs (P < 0.01); in Duroc pigs, however, significantly higher IFNAR2 mRNA expression was only found in adult liver (P < 0.05). In Duroc × Landrace × Yorkshire commercial pigs infected with porcine reproductive and respiratory syndrome virus (PRRSV), the expression of IFNAR2 mRNA in lung tissue was significantly down-regulated as compared to uninfected ones (P < 0.05).