A novel polymorphism in the Oxytocin receptor encoding gene (OXTR) affects milk fatty acid composition in Italian Mediterranean river buffalo

The Oxytocin Receptor, also known as OXTR, is a protein which functions as receptor for the hormone and neurotransmitter oxytocin and the complex oxytocin-oxytocin receptor plays an important role in the uterus during calving. A characterization of the river buffalo OXTR gene, amino acid sequences and phylogenetic analysis were presented. The DNA regions of the OXTR gene spanning exons 1, 2 and 3 of ten Mediterranean river buffalo DNA samples were analyzed and found 7 single nucleotide polymorphisms. We focused on the g.129C>T SNP detected in exon 3 and responsible for the amino acid replacement CGCArg>TGCCys in position 353. The relative frequency of T allele was of 0.257. An association study between this detected polymorphism and milk fatty acids composition in Italian Mediterranean river buffalo was carried out. The fatty acid composition traits, fatty acid classes and fat percentage of 306 individual milk samples were determined. Associations between OXTR g.129C>T genotype and milk fatty acids composition were tested using a mixed linear model. The OXTR CC genotype was found significantly associated with higher contents of Odd branched-chain fatty acids (OBCFA) (P0.0006), polyunsaturated FA (PUFA n 3 and n 6) (P0.0032 and P0.0006, respectively), Stearic acid (C18) (P0.02) and lower level of Palmitic acid (C16) (P0.02). The results of this study suggest that the OXTR CC genotype animals might be useful in selection toward the improvement of milk fatty acid composition