Amplification created restriction sites for genotyping SNPs in the bovine ABCG2 and its association with milk production traits (Brief Report)

Abstract. ABCG2 (ATP-binding cassette, subfamily G, member 2) belongs to the superfamily of ATPbinding cassette (ABC) transporters. In ATP-dependent processes, ABCG2 is responsible for transporting xenobiotics and cytostatic drugs across various cellular membranes. The ABCG2 gene is expressed in the apical membrane of alveolar mammary epithelial cells and is responsible for the active secretion of substrates into mouse milk. Other members of the ABC subfamily G are sterol transporters. It therefore appears that ABCG2 might transport cholesterol into milk (COHEN-ZINDER et al. 2005). In the study by COHEN-ZINDER et al. (2005), several SNPs were detected in the ABCG2 gene but only two were genotyped – in exon 14 and in intron 3. In the case of SNP A/C in exon 14 resulting in an amino acid change Y581S, it was demonstrated that this substitution affects milk yield and composition. To detect theses polymorphisms in our study we used a new PCR-RFLP method based on an amplification created restriction site (ACRS). This method has been frequently used by various researchers in recent times (e.g. ZYCH et al. 2007). The aim of this study was to estimate the frequencies of genotypes and alleles and to investigate possible associations between ABCG2 polymorphisms and milk production traits in Jersey cows.