13915*G DNA polymorphism associated with lactase persistence in Africa interacts with Oct-1.
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.
Department of Pediatrics, Stanford University Medical Center, Stanford, CA, USA.
Lynne C
LC
Olds
Jong Kun
JK
Ahn
Eric
E
Sibley
D000349:Africa; D001483:Base Sequence; D024202:Electrophoretic Mobility Shift Assay; D004843:Epistasis, Genetic; D015971:Gene Expression Regulation, Enzymologic; D006801:Humans; D043322:Lactase / Q000235:genetics*; D007785:Lactose / Q000378:metabolism*; D007787:Lactose Intolerance / Q000235:genetics*; D050811:Octamer Transcription Factor-1 / Q000235:genetics* / Q000378:metabolism; D020641:Polymorphism, Single Nucleotide; D011401:Promoter Regions, Genetic
D050811:Octamer Transcription Factor-1; D043322:Lactase; D007785:Lactose