−13915*G DNA polymorphism associated with lactase persistence in Africa interacts with Oct-1
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Lactase gene expression declines with aging (lactase non-persistence) in the majority of humans worldwide. Lactase persistence is a heritable autosomal dominant condition and has been strongly correlated with several single nucleotide polymorphisms (SNPs) located ~14-kb upstream (−13907, −13910 and −13915) of the lactase gene in different ethnic populations. In contrast to the −13907*G and −13910*T SNPs, the −13915*G SNP was previously believed not to interact with Oct-1. In the present study, however, Oct-1 is shown to interact with the −13915*G SNP region DNA sequence by EMSAs and gel supershift. In addition, Oct-1 is capable of enhancing promoter activity of a lactase promoter–reporter construct harboring the 13915*G SNP sequence in cell culture. Oct-1 binding to the −13907 to −13915 SNP region therefore remains a candidate interaction involved in lactase persistence.
KeywordsElectrophoretic Mobility Shift Assay Lactase Lactase Persistence Lactase Gene Electrophoretic Mobility Shift Assay Reaction
Relative light units
Single nucleotide polymorphism
Electrophoretic mobility shift assay
This work was supported by the National Institute of Diabetes and Digestive and Kidney Diseases Grants DK60074 and DK60715.
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