Department of Agro-Food Science and Technology, Sezione di Allevamenti Zootecnici, Faculty of Agriculture, University of Bologna, Viale Fanin 48, 40127 Bologna, Italy.
Animal. 2012 Dec;6(12):1913-24. doi: 10.1017/S1751731112001280. Epub 2012 Jul 20.
The proprotein convertase subtilisin/kexin type 1 (PCSK1) gene encodes the prohormone convertase 1/3 enzyme that processes prohormones into functional hormones that, in turn, regulate central and peripheral energy metabolism. Mutations in the human PCSK1 gene cause severe monogenic obesity or confer risk of obesity. We herein investigated the porcine PCSK1 gene with the aim of identifying polymorphisms associated with fat deposition and production traits in Italian heavy pigs. By re-sequencing about 5.1 kb of this gene in 21 pigs of different breeds, we discovered 14 polymorphisms that were organized in nine haplotypes, clearly distributed in two clades of putative European and Asian origin. Then we re-mapped this gene on porcine chromosome 2 and analysed its expression in several tissues including gastric oxyntic mucosa of weanling pigs in which PCSK1 processes the pre-pro-ghrelin into ghrelin, which in turn is involved in the control of feed intake and energy metabolism. Association analyses between PCSK1 single-nucleotide polymorphisms (SNPs) and production, carcass and several other traits were conducted on five groups of pigs from three different experimental designs, for a total of 1221 animals. Results indicated that the analysed SNPs were associated (P < 0.01 or P < 0.05) with several traits including backfat thickness and visible intermuscular fat in Italian Duroc (ID) and growth performances in Italian Large White (ILW) and in ILW × Italian Landrace pigs. However, the effects estimated in the ILW were opposite to the effects reported in the ID pigs. Suggestive association (P < 0.10) was observed with muscle cathepsin B activity, opening, if confirmed, potential applications to reduce the excessive softness defect of the green hams that is of particular concern for the processing industry. The results obtained supported the need to further investigate the PCSK1 gene to fully exploit the value of its variability and apply this information in pig breeding programmes.
脯氨酸内切蛋白酶枯草溶菌素/凝血酶 1 型（PCSK1）基因编码激素原转化酶 1/3 酶，该酶将激素原加工成具有功能的激素，从而调节中枢和外周能量代谢。人类 PCSK1 基因突变会导致严重的单基因肥胖或肥胖风险。我们在此研究了猪的 PCSK1 基因，旨在鉴定与意大利重型猪脂肪沉积和生产性状相关的多态性。通过对 21 头不同品种猪的约 5.1kb 基因进行重测序，我们发现了 14 个多态性，这些多态性组织成 9 个单倍型，明显分布在两个假定的欧洲和亚洲起源的分支中。然后，我们将该基因重新映射到猪的 2 号染色体上，并分析了其在包括断奶仔猪胃幽门黏膜在内的几种组织中的表达，在胃幽门黏膜中，PCSK1 将前原-ghrelin 加工成 ghrelin，而 ghrelin 又参与控制采食量和能量代谢。我们在三个不同的实验设计中对五组猪进行了 PCSK1 单核苷酸多态性（SNP）与生产、胴体和其他几个性状的关联分析，共涉及 1221 头猪。结果表明，分析的 SNP 与几个性状相关（P < 0.01 或 P < 0.05），包括意大利杜洛克猪（ID）的背膘厚度和可见的肌间脂肪、意大利大白猪（ILW）和 ILW×意大利长白猪的生长性能。然而，在 ILW 中估计的影响与在 ID 猪中报告的影响相反。在肌肉组织中的组织蛋白酶 B 活性方面观察到了有提示意义的关联（P < 0.10），如果得到证实，这可能为减少绿火腿过度柔软的缺陷提供潜在的应用，这是加工行业特别关注的问题。所得结果支持进一步研究 PCSK1 基因的必要性，以充分利用其变异性的价值，并将这些信息应用于猪的育种计划。
