Stearoyl-CoA desaturase 1 3'UTR SNPs and their influence on milk fatty acid composition of Canadian Holstein cows.

Stearoyl-CoA desaturase 1 (SCD1) catalyses the synthesis of conjugated linoleic acid (CLA) and mono-unsaturated fatty acids (MUFA) in the mammary gland of ruminant animals. Considerable variations in CLA and MUFA have been reported among animals of the same contemporary group. We hypothesized that single nucleotide polymorphisms (SNPs) in the 5' and 3' untranslated regions (UTRs) of the SCD1 gene would influence the production of SCD1 enzyme and consequently its activity in the mammary gland, which may account for some of the observed within breed variations in CLA and MUFA. The 5' and 3'UTRs of the SCD1 gene of 46 Holsteins and 35 Jerseys were analysed for SNPs by sequencing. No SNPs were identified in the 5'UTR, while 14 SNPs were identified in the 3'UTR region. Further analysis revealed three haplotype structures or regulatory variants in Holsteins: named H1, H2 and H3 and only H1 and H3 in Jerseys. An IRES motif was found in the H1 variant. A subsequent association study involving the milk fatty acid profiles of 862 Holstein cows found the H1 regulatory variant to be associated with higher C10 and C12 desaturase indices and consequently with higher contents of C10:1 and C12:1 relative to the H3 variant. The effects of the H2 variant were intermediate to those of H1 and H3. SNPs in the 3'UTR of the SCD1 gene could therefore explain some of the within-breed variations in MUFA content of milk fat.