Novel Single Nucleotide Polymorphisms of the Caprine PC1 Gene and Association with Growth Traits

Abstract

Proprotein convertase 1 (PC1) is an endopeptidase involved in proteolytic processing of peptide hormone precursors in granules of the regulated secretory pathway in endocrine cells. Mutations in the PC1 gene are thought to cause obesity, and multiple alternatively spliced transcript variants have been described for this gene. In this study, based on PCR-SSCP and DNA sequencing methods, polymorphisms of the PC1 gene were detected in 447 individuals from three breeds. Only the P1, P2, P3, P9, and P10 loci showed polymorphisms, and 12 SNPs in the PC1 gene were identified. Additionally, an association analysis between mutations in the 5'-UTR and four growth traits indicated that the polymorphisms were significantly associated with caprine body height (P < 0.05) and chest circumference (P < 0.01).