title: An SNP in the goat CSN2 promoter region is associated with the absence of beta-casein in milk.
abstract: So far, at least eight alleles in the goat CSN2 locus have been associated with the level of beta-casein expression in milk. Alleles CSN2(A), CSN2(A1), CSN2(B), CSN2(C), CSN2(D) and CSN2(E) have been associated with normal content (allele effects of about 5 g of beta-casein per litre), whereas the CSN2(0) and CSN2(01) alleles have been associated with non-detectable levels of beta-casein. Most of these alleles have been characterized genetically. Herein, we report the identification of a previously unreported SNP in the goat CSN2 promoter region (AJ011018:g.1311T>C), which is associated with the absence of beta-casein in the milk. Furthermore, we developed a PCR-based method that allows detection of this mutation.
authors.affiliation: Dipartimento di Scienze del Suolo, della Pianta, dell'Ambiente e delle Produzioni Animali, Facoltà di Agraria, Università degli Studi di Napoli Federico II, Portici (Na) 80055, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Cosenza
authors.forename: A
authors.initials: A
authors.lastname: Pauciullo
authors.forename: L
authors.initials: L
authors.lastname: Colimoro
authors.forename: A
authors.initials: A
authors.lastname: Mancusi
authors.forename: A
authors.initials: A
authors.lastname: Rando
authors.forename: D
authors.initials: D
authors.lastname: Di Berardino
authors.forename: L
authors.initials: L
authors.lastname: Ramunno
mesh_terms: D000818:Animals; D001483:Base Sequence; D002364:Caseins / Q000737:chemistry / Q000235:genetics* / Q000378:metabolism; D004252:DNA Mutational Analysis; D004591:Electrophoresis, Polyacrylamide Gel; D005260:Female; D005838:Genotype; D006041:Goats / Q000235:genetics* / Q000378:metabolism; D008892:Milk / Q000378:metabolism*; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic
chemical_list: D002364:Caseins