The SNP g.1311T>C associated with the absence of β-casein in goat milk influences CSN2 promoter activity.

Anim Genet

Department of Agriculture, University of Naples Federico II, via Università 100, 80055, Portici, Napoli, Italy.

Published: October 2016

Quantitative individual differences in the amount of β-casein in goat milk are determined by at least nine alleles. In particular, two alleles (CSN2(0) and CSN2(01) ) are associated with an undetectable amount of this protein in milk. The CSN2(01) allele is characterized by a single nucleotide substitution at position 373 of the seventh exon (AJ011018:g.8915C>T), responsible for the formation of a premature stop codon at the 182 position. Herein, we report the contribution of the SNP g.1311T>C, which demonstrates a linkage with the SNP AJ011018:g.8915C>T, to the promoter transcriptional activity. Particularly, we indicate that the nucleotide C at position 1311 negatively affects the promoter activity of the CSN2 gene.

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http://dx.doi.org/10.1111/age.12443DOI Listing

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