Single-nucleotide polymorphisms and activity analysis of the promoter and enhancer of the pig lactase gene.
作者： Hai-ting Du , Hong-yan Zhu , Jia-mei Wang , Wei Zhao , Xiao-li Tao
DOI: 10.1016/J.GENE.2014.05.007
关键词: Lactase 、 Molecular biology 、 Enhancer 、 Genetics 、 Gene 、 Promoter 、 Single-nucleotide polymorphism 、 Genotype 、 Lactose intolerance 、 Gene expression 、 Biology
摘要: 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 5′ flanking region pig gene are similar to those and these polymorphisms play functional role regulating expression. The from several different breeds pigs was cloned analyzed for regulatory activity luciferase reporter gene. One SNP found enhancer (− 797*G/A) two were promoter (− 308*G/C − 301*A/G). C− 308,G− 301(Pro-CG) promotes expression gene, but G− 308,A− 301(Pro-GA) does not. A− 797(Enh-A) genotype Pro-GA can significantly enhance activity, has an inhibitory effect on Pro-CG. Enhancer G− 797(Enh-G) significant both promoters. In conclusion, order effectiveness Enh-A + Pro-GA > Enh-A/G + Pro-CG > Enh-G + Pro-GA.
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