title: Polymorphisms in the promoter region of bovine PRKAB1 gene.
abstract: The AMP-activated protein kinase (AMPK) is an evolutionarily conserved sensor of cellular and systemic energy balance. PRKAB1, the gene that encodes the beta1 regulatory subunit of AMPK, has been shown to be highly involved in the glycogen metabolism. To date, several mutations affecting function of human PRKAB1 have been identified, but few studies have shown a complete description of variability of the promoter region of PRKAB1. Therefore, the extent of genetic polymorphisms in the promoter region of PRKAB1 gene was investigated in a sample of 811 Chinese indigenous bovine individuals using a PCR-SSCP (single strand conformation polymorphism) strategy. Sequence analysis revealed 12 single nucleotide polymorphisms and one 10 bp insertion and one 4 bp deletion variations, which are within some important transcription factor binding sites: GC-Box factors SP1/GC, PAX-3 binding sites, zinc binding protein factors, nuclear respiratory factor 1, and serum response element binding factor. It is expected that these polymorphisms regulate PRKAB1 gene transcription and might have consequences at a regulatory level.
authors.affiliation: Shaanxi Key Laboratory of Molecular Biology for Agriculture, College of Animal Sciences and Technology, Northwest A&F University, Shaanxi, People's Republic of China.
authors.forename: Qin
authors.initials: Q
authors.lastname: Zhang
authors.forename: Hong
authors.initials: H
authors.lastname: Chen
authors.forename: Sheng
authors.initials: S
authors.lastname: Zhao
authors.forename: Li
authors.initials: L
authors.lastname: Zhang
authors.forename: Liangzhi
authors.initials: L
authors.lastname: Zhang
authors.forename: Xueming
authors.initials: X
authors.lastname: Wang
mesh_terms: D055372:AMP-Activated Protein Kinases / Q000235:genetics*; D000818:Animals; D001483:Base Sequence; D001665:Binding Sites; D002417:Cattle / Q000235:genetics*; D005787:Gene Frequency / Q000235:genetics; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D020641:Polymorphism, Single Nucleotide / Q000235:genetics*; D018807:Polymorphism, Single-Stranded Conformational; D011401:Promoter Regions, Genetic; D014157:Transcription Factors / Q000378:metabolism
chemical_list: D014157:Transcription Factors; D055372:AMP-Activated Protein Kinases