Polymorphisms in the promoter region of bovine PRKAB1 gene.

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.