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

Anim Genet. 2016 Oct;47(5):615-7. doi: 10.1111/age.12443. Epub 2016 Jul 9.

Abstract

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.

Keywords: Capra hircus; beta-casein; luciferase assay; null allele; promoter polymorphism.

MeSH terms

  • Alleles
  • Animals
  • Caseins / genetics*
  • Codon, Nonsense
  • Gene Frequency
  • Genotype
  • Goats / genetics*
  • Milk / chemistry*
  • Polymorphism, Single Nucleotide*
  • Promoter Regions, Genetic*
  • Sequence Analysis, DNA

Substances

  • Caseins
  • Codon, Nonsense