Identification of novel SNPs in the Sarda breed goats POU1F1 gene and their association with milk productive performance

"The aim of the study was to detect polymorphism in the POU1F1 gene in Sarda breed goat, as well as to establish if SNPs could be associated with milk productive traits. The research was conducted on 129 Sarda breed goats from 4 to 5 years old, multiparous, lactating and in their third to fifth lactation. We report nine exonic and seven non-coding regions SNPs within the Sarda goat POU1F1 gene, namely, Ex 1 61 G > C; Ex 1 108 G > A; Ex 3 C > T; Ex 3 92 C > T; Ex 4 110 A > G; Ex 5 34 G > A resulting in Arg213Lys change; IVS4 641 G > A, IVS4 643 A > C, IVS4 659 G > A, IVS4 677 A > C, IVS4 G699Del, IVS4 709 C > G, Ex 6 17 G > A resulting in Arg228Ser change, Ex 6 58 G > T, Ex 6 172 T > C, 3'UTR 110 T > C. A statistically significant association was found between genotype TT, in position 17 of the exon 6 (3.1 % of frequency), and increased milk yield (P < 0.01) while genotype GT (25.6 % of frequency) was associated with a higher fat content. Genotype TT in position 58 of the exon 6 (3.9 % of frequency) was found to be associated with a higher fat (P < 0.01) and protein content (P < 0.05). Twenty-eight haplotypes were detected, but no significant association between the haplotypes and the milk production traits have been found. Our data, as well as providing new SNPs extending the POU1F1 gene characterization, evidence a relationship between polymorphism and milk production traits in Sarda goat breed."