Human Genetics

, Volume 129, Issue 1, pp 111–113

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

Short Report

DOI: 10.1007/s00439-010-0898-0

Cite this article as:
Olds, L.C., Ahn, J.K. & Sibley, E. Hum Genet (2011) 129: 111. doi:10.1007/s00439-010-0898-0

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.

Abbreviations

LPH

Lactase-phlorizin hydrolase

RLU

Relative light units

SNP

Single nucleotide polymorphism

EMSA

Electrophoretic mobility shift assay

Copyright information

© Springer-Verlag 2010

Authors and Affiliations

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