Abstract
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.
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Abbreviations
- LPH:
-
Lactase-phlorizin hydrolase
- RLU:
-
Relative light units
- SNP:
-
Single nucleotide polymorphism
- EMSA:
-
Electrophoretic mobility shift assay
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Acknowledgments
This work was supported by the National Institute of Diabetes and Digestive and Kidney Diseases Grants DK60074 and DK60715.
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Olds, L.C., Ahn, J.K. & Sibley, E. −13915*G DNA polymorphism associated with lactase persistence in Africa interacts with Oct-1. Hum Genet 129, 111–113 (2011). https://doi.org/10.1007/s00439-010-0898-0
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DOI: https://doi.org/10.1007/s00439-010-0898-0