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Human Genetics

, Volume 129, Issue 1, pp 111–113 | Cite as

−13915*G DNA polymorphism associated with lactase persistence in Africa interacts with Oct-1

  • Lynne C. Olds
  • Jong Kun Ahn
  • Eric Sibley
Short Report

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.

Keywords

Electrophoretic Mobility Shift Assay Lactase Lactase Persistence Lactase Gene Electrophoretic Mobility Shift Assay Reaction 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Abbreviations

LPH

Lactase-phlorizin hydrolase

RLU

Relative light units

SNP

Single nucleotide polymorphism

EMSA

Electrophoretic mobility shift assay

Notes

Acknowledgments

This work was supported by the National Institute of Diabetes and Digestive and Kidney Diseases Grants DK60074 and DK60715.

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Copyright information

© Springer-Verlag 2010

Authors and Affiliations

  1. 1.Department of PediatricsStanford University Medical CenterStanfordUSA
  2. 2.Korea National Open UniversitySeoulKorea

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