Identification of a novel premature stop codon and other recurrent variations in the porcine gelsolin gene

Gelsolin is an actin-binding protein that plays a significant role in sustaining cell motility and cell metabolism. Investigations of the mutations present in the key regions of gelsolin provide extensive information to further understand the mechanism by which gelsolin causes variation in the phenotype [e.g., residual feed intake (RFI) or feed efficiency ]of pigs. However, there have been no investigations of the variation in functional binding regions or research on Chinese native pigs. In this study, three key regions of gelsolin were investigated in 144 pigs from six breeds using a sequencing method. The results revealed 16 nucleotide substitutions, eight of which (c.42-13G/T, c.59 T/C, c.86C/T, c.87G/T, c.104C/T, c.144 T/C, c.206G/C, and c.237 + 21A/G) were novel and identified in intron 1, exon 2, and intron 2. Two variants (c.87G/T and c.144 T/C) resulted in a premature stop codon (p.Gly16Uga(Stop)) and an amino acid change (p.Tyr35His), respectively. In region 1, c.144 T/C was the most common (at a total frequency of 46.5%), followed by c.42-13G/T (at a total frequency of 41.7%). In region 2, two variants (c.350A/G and c.374A/G) were most common (both at a total frequency of 36.1%). There were significant differences (P < 0.05) in variant frequencies between Chinese indigenous pigs and overseas pigs. Our findings revealed one novel premature stop codon and eight novel variations in re-sequencing regions, which suggest that these variations of gelsolin may influence its mRNA expression and consequently affect production traits in swine.