The human lactase persistence-associated SNP −13910*T enables in vivo functional persistence of lactase promoter–reporter transgene expression

摘要: Lactase is the intestinal enzyme responsible for digestion of milk sugar lactose. gene expression declines dramatically upon weaning in mammals and during early childhood humans (lactase nonpersistence). In various ethnic groups, however, lactase persists high levels throughout adulthood persistence). Genetic association studies have identified that persistence northern Europeans strongly associated with a single nucleotide polymorphism (SNP) located 14 kb upstream gene: −13910*C/T. To determine whether −13910*T SNP can function vivo to mediate persistence, we generated transgenic mice harboring human DNA fragments or ancestral −13910*C cloned 2-kb rat promoter luciferase reporter construct. We previously reported directs post-weaning decline transgene similar endogenous gene. present study, directed by impeded addition fragment, but not fragment. Persistence represents first data support functional role mediating phenotype.