title: Bovine kappa-casein gene promoter haplotypes with potential implications for milk protein expression.
abstract: Genetic analysis of the kappa-casein gene (CSN3) promoter regions of 42 cattle representing 9 different breeds revealed that 2 distinct haplotypes (A and B) exist at this locus, differing from each other by single base changes at positions -514 (T/G), -426 (T/C), and -384 (T/C), where haplotype A has bases T, T, and T and haplotype B has bases G, C, and C. The AA and AB haplotypes were found to occur at a higher frequency in the animals tested, with 69.0 and 21.4% being homozygous and heterozygous, respectively. The sequences that include these polymorphisms are potentially important in transcriptional regulation of the kappa-casein gene, because they contain putative sites for binding of many transcription factors. Linkage disequilibrium between the kappa-casein promoter haplotype and either one of the 2 major kappa-casein coding sequence haplotypes was not evident. The A allele is dominant in all groups (dairy, beef, and dual purpose) with an allele frequency of 80% and is higher among high-yielding dairy animals (88.9%) than among beef animals (75%). The AB haplo-type is comparatively rare in the dairy cattle (11.1%) compared with both beef and dual-purpose animals. The BB haplotype, though rare overall (9.5%), is much higher in dual-purpose animals (18.8%) than dairy (5.6%) animals. In contrast, the B allele is much more representative of the kappa-casein promoters from other ruminants.
authors: National Diagnostics Centre, National University of Ireland, Galway, Ireland.
authors: A F
authors: AF
authors: Keating
authors: P
authors: P
authors: Davoren
authors: T J
authors: TJ
authors: Smith
authors: R P
authors: RP
authors: Ross
authors: M T
authors: MT
authors: Cairns
mesh_terms: D000483:Alleles; D000818:Animals; D002364:Caseins / Q000235:genetics*; D002417:Cattle / Q000235:genetics*; D045744:Cell Line, Tumor; D004247:DNA / Q000097:blood; D015870:Gene Expression; D005787:Gene Frequency; D006239:Haplotypes / Q000235:genetics*; D006801:Humans; D008156:Luciferases / Q000235:genetics; D008894:Milk Proteins / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic / Q000235:genetics*; D011993:Recombinant Fusion Proteins; D017422:Sequence Analysis, DNA; D014162:Transfection
chemical_list: D002364:Caseins; D008894:Milk Proteins; D011993:Recombinant Fusion Proteins; D004247:DNA; D008156:Luciferases