title: The SNP g.1311T>C associated with the absence of β-casein in goat milk influences CSN2 promoter activity.
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.
authors.affiliation: Department of Agriculture, University of Naples Federico II, via Università 100, 80055, Portici, Napoli, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Cosenza
authors.affiliation: Department of Agriculture, University of Naples Federico II, via Università 100, 80055, Portici, Napoli, Italy.
authors.forename: M
authors.initials: M
authors.lastname: Iannaccone
authors.affiliation: Department of Agriculture, University of Naples Federico II, via Università 100, 80055, Portici, Napoli, Italy.|Faculty of Agriculture, Science and Technology, North-West University,  Private Bag ×2046, MMABATHO, 2735, South Africa.
authors.forename: B A
authors.initials: BA
authors.lastname: Pico
authors.affiliation: Department of Agriculture, University of Naples Federico II, via Università 100, 80055, Portici, Napoli, Italy.
authors.forename: L
authors.initials: L
authors.lastname: Ramunno
authors.affiliation: Department of Agriculture, University of Naples Federico II, via Università 100, 80055, Portici, Napoli, Italy. rosanna.capparelli@unina.it.
authors.forename: R
authors.initials: R
authors.lastname: Capparelli
mesh_terms: D000483:Alleles; D000818:Animals; D002364:Caseins / Q000235:genetics*; D018389:Codon, Nonsense; D005787:Gene Frequency; D005838:Genotype; D006041:Goats / Q000235:genetics*; D008892:Milk / Q000737:chemistry*; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D017422:Sequence Analysis, DNA
chemical_list: D002364:Caseins; D018389:Codon, Nonsense
keywords: Capra hircus; beta-casein; luciferase assay; null allele; promoter polymorphism