Characterization of a Novel Porcine CSN2 Polymorphism and Its Distribution in Five European Breeds

SIMPLE SUMMARY: Polymorphisms in genes encoding major milk proteins have been intensely studied, and are used, worldwide, in marker-assisted selection in dairy species: αS1-casein in goats—associated with milk protein content and flavor; κ-casein and β-lactoglobulin in cattle—associated with milk quantity and quality; bovine β-casein—associated with human health, etc. This aspect has scarcely been investigated in pigs. Using an electrophoretic technique, we previously identified a novel porcine β-casein (encoded by CSN2) polymorphism. Here, we fully characterize it at protein and DNA level, propose a genotyping protocol, and investigate its distribution in five European porcine breeds. In brief, a G/A point mutation in position 647 of the porcine CSN2 cDNA leads to an arginine/glutamine substitution in position 201 of the protein. This mutation can be typed via a StyI PCR-RFLP assay. The frequency of the G allele was 0.965 in the investigated Landrace population (number of individuals genotyped n = 67), one in the Pietrain (n = 40), 0.705 in the Large White (n = 36), 0.885 in the Bazna (n = 13), and 0.555 in the Mangalita population (n = 11). Considering that milk protein content still varies widely within (and between) porcine breeds, this and/or other similar polymorphisms may have implications for the dynamics of piglet growth during suckling. ABSTRACT: Here, we describe a novel porcine β-casein (CNS2) polymorphism, initially identified using the isoelectric focusing (IEF) technique, and provide its distribution in five European breeds. Porcine CSN2 cDNA samples, from sows identified using IEF as carriers of polymorphic variants, were sequenced, and based on the sequence alignments, a genotyping assay was developed. The distribution of the polymorphism was investigated by genotyping 167 sows. Population genetic indexes were computed using POPGENE32 version 1.32. Sequence alignments revealed that the mutation which caused the different β-casein IEF migration profiles was c.647G>A, a substitution located in exon 7, which modifies the amino acid from position 201 of the mature protein from arginine to glutamine. The frequency of the G allele was 0.965 in the investigated Landrace population (number of individuals genotyped n = 67), one in the Pietrain population (n = 40), 0.705 in the Large White population (n = 36), 0.885 in the Bazna population (n = 13), and 0.555 in the Mangalita population (n = 11). For all breeds, except Pietrain (monomorphic), the genotype distribution was in accordance with the Hardy–Weinberg equilibrium. Given that β-casein is the most important protein in sows’ milk, a polymorphism like the one described here may prove interesting for marker-assisted selection.