title: Polymorphisms in an obesity-related gene (PCSK1) are associated with fat deposition and production traits in Italian heavy pigs.
abstract: 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.
authors.affiliation: Department of Agro-Food Science and Technology, Sezione di Allevamenti Zootecnici, Faculty of Agriculture, University of Bologna, Viale Fanin 48, 40127 Bologna, Italy. luca.fontanesi@unibo.it
authors.forename: L
authors.initials: L
authors.lastname: Fontanesi
authors.forename: F
authors.initials: F
authors.lastname: Bertolini
authors.forename: E
authors.initials: E
authors.lastname: Scotti
authors.forename: P
authors.initials: P
authors.lastname: Trevisi
authors.forename: L
authors.initials: L
authors.lastname: Buttazzoni
authors.forename: S
authors.initials: S
authors.lastname: Dall'olio
authors.forename: R
authors.initials: R
authors.lastname: Davoli
authors.forename: P
authors.initials: P
authors.lastname: Bosi
authors.forename: V
authors.initials: V
authors.lastname: Russo
mesh_terms: D050154:Adiposity; D000818:Animals; D002874:Chromosome Mapping; D033481:Chromosomes, Mammalian; D005260:Female; D005787:Gene Frequency; D056726:Genetic Association Studies; D005819:Genetic Markers; D006239:Haplotypes; D008297:Male; D008460:Meat / Q000592:standards; D008969:Molecular Sequence Data; D018482:Muscle, Skeletal / Q000254:growth & development; D010641:Phenotype; D010802:Phylogeny; D020641:Polymorphism, Single Nucleotide; D045664:Proprotein Convertase 1 / Q000235:genetics*; D017422:Sequence Analysis, DNA; D034421:Sus scrofa / Q000235:genetics / Q000254:growth & development / Q000502:physiology*
chemical_list: D005819:Genetic Markers; D045664:Proprotein Convertase 1