title: Single-nucleotide polymorphisms and activity analysis of the promoter and enhancer of the pig lactase gene.
abstract: Lactose intolerance in northern Europeans is strongly associated with a single-nucleotide polymorphism (SNP) located 14 kb upstream of the human lactase gene: -13,910 C/T. We examined whether SNPs in the 5' flanking region of the pig lactase gene are similar to those in the human gene and whether these polymorphisms play a functional role in regulating pig lactase gene expression. The 5' flanking region of the lactase gene from several different breeds of pigs was cloned and analyzed for gene regulatory activity of a luciferase reporter gene. One SNP was found in the enhancer region (-797 G/A) and two were found in the promoter region (-308G/C and -301 A/G). The promoter C-308,G-301(Pro-CG) strongly promotes the expression of the lactase gene, but the promoter G-308,A-301(Pro-GA) does not. The enhancer A-797(Enh-A) genotype for Pro-GA can significantly enhance promoter activity, but has an inhibitory effect on Pro-CG. The Enhancer G-797(Enh-G) has a significant inhibitory effect on both promoters. In conclusion, the order of effectiveness on the pig lactase gene is Enh-A+Pro-GA>Enh-A/G+Pro-CG>Enh-G+Pro-GA.
authors.affiliation: Basic Medical College of Liaoning Medical University, Liaoning, China. Electronic address: haoyunhaiting@gmail.com.
authors.forename: Hai-Ting
authors.initials: HT
authors.lastname: Du
authors.affiliation: Animal Science and Veterinary Medicine College of Liaoning Medical University, Liaoning, China.
authors.forename: Hong-Yan
authors.initials: HY
authors.lastname: Zhu
authors.affiliation: Basic Medical College of Liaoning Medical University, Liaoning, China.
authors.forename: Jia-Mei
authors.initials: JM
authors.lastname: Wang
authors.affiliation: Basic Medical College of Liaoning Medical University, Liaoning, China.
authors.forename: Wei
authors.initials: W
authors.lastname: Zhao
authors.affiliation: Animal Science and Veterinary Medicine College of Liaoning Medical University, Liaoning, China.
authors.forename: Xiao-Li
authors.initials: XL
authors.lastname: Tao
authors.affiliation: Basic Medical College of Liaoning Medical University, Liaoning, China.
authors.forename: Cai-Feng
authors.initials: CF
authors.lastname: Ba
authors.affiliation: Animal Science and Veterinary Medicine College of Liaoning Medical University, Liaoning, China.
authors.forename: Yu-Min
authors.initials: YM
authors.lastname: Tian
authors.affiliation: Animal Science and Veterinary Medicine College of Liaoning Medical University, Liaoning, China. Electronic address: haoyunyuhongsu@gmail.com.
authors.forename: Yu-Hong
authors.initials: YH
authors.lastname: Su
mesh_terms: D000818:Animals; D004742:Enhancer Elements, Genetic; D005786:Gene Expression Regulation; D043322:Lactase / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic; D034421:Sus scrofa / Q000235:genetics*
chemical_list: D043322:Lactase
keywords: Lactase; Luciferase reporter gene; Pig; Promoter; SNP