Back to Search
Start Over
Single-nucleotide polymorphisms and activity analysis of the promoter and enhancer of the pig lactase gene
- Source :
- Gene. 545:56-60
- Publication Year :
- 2014
- Publisher :
- Elsevier BV, 2014.
-
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.
- Subjects :
- Genetics
Lactose intolerance
medicine.medical_treatment
Sus scrofa
Promoter
Single-nucleotide polymorphism
Lactase
General Medicine
Biology
medicine.disease
Polymorphism, Single Nucleotide
Molecular biology
Enhancer Elements, Genetic
Gene Expression Regulation
Genotype
Gene expression
medicine
Animals
Promoter Regions, Genetic
Enhancer
Gene
Subjects
Details
- ISSN :
- 03781119
- Volume :
- 545
- Database :
- OpenAIRE
- Journal :
- Gene
- Accession number :
- edsair.doi.dedup.....d976e2decf6a6f2a6d4c9f5eb08a76f1