title: Characterization of the bovine PRKAG3 gene: structure, polymorphism, and alternative transcripts.
abstract: The bovine PRKAG3 gene encodes the AMPK gamma3 subunit, one isoform of the regulatory gamma subunit of the AMP-activated protein kinase (AMPK). The AMPK plays a major role in the regulation of energy metabolism and mutations affecting the genes encoding the gamma subunits have been shown to influence AMPK activity. The gamma3 subunit is involved in the regulation of AMPK activity in skeletal muscle and strongly influences glycogen metabolism. Glycogen content in muscle is correlated to meat quality in livestock because it influences postmortem maturation process and ultimate pH. Naturally occurring mutations in the porcine PRKAG3 gene highly affect meat quality by influencing glycogen content before slaughter. We present the characterization of the bovine PRKAG3 gene and a polymorphism analysis in three cattle breeds. Thirty-two SNPs were identified among which 13 are in the coding region, one is in the 3' UTR, and 18 are in the introns. Five of them change an amino acid in the PRKAG3 protein sequence. Allelic frequencies were determined in the three breeds considered, and mutant alleles affecting the coding sequence are found at a very low frequency. Alternative splicing sites were identified at two positions of the gene, introducing heterogeneity in the population of proteins translated from the gene.
authors.affiliation: Faculté des Sciences et Techniques, Unité de Génétique Moléculaire Animale, Unité Mixte de Recherches 1061 Institut national de la recherche agronomique (INRA)/Université de Limoges, 123 av Albert Thomas, 87060 Limoges Cedex, France.
authors.forename: Matthieu
authors.initials: M
authors.lastname: Roux
authors.forename: Angélique
authors.initials: A
authors.lastname: Nizou
authors.forename: Lionel
authors.initials: L
authors.lastname: Forestier
authors.forename: Ahmed
authors.initials: A
authors.lastname: Ouali
authors.forename: Hubert
authors.initials: H
authors.lastname: Levéziel
authors.forename: Valérie
authors.initials: V
authors.lastname: Amarger
mesh_terms: D017398:Alternative Splicing; D000818:Animals; D001483:Base Sequence; D002417:Cattle; D022202:Chromosomes, Artificial, Bacterial; D017868:Cyclic AMP-Dependent Protein Kinases / Q000235:genetics*; D017931:DNA Primers; D018076:DNA, Complementary; D006239:Haplotypes; D008969:Molecular Sequence Data; D011110:Polymorphism, Genetic; D012333:RNA, Messenger / Q000235:genetics*; D012689:Sequence Homology, Nucleic Acid
chemical_list: D017931:DNA Primers; D018076:DNA, Complementary; D012333:RNA, Messenger; D017868:Cyclic AMP-Dependent Protein Kinases