caa a22 4500 445861274 CHVBK 20180317145443.0 cr unu---uuuuu 170323e20110101xx s 000 0 eng 10.1007/s00439-010-0898-0 doi (NATIONALLICENCE)springer-10.1007/s00439-010-0898-0 −13915*G DNA polymorphism associated with lactase persistence in Africa interacts with Oct-1 [Elektronische Daten] [Lynne Olds, Jong Ahn, Eric Sibley] 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. Springer-Verlag, 2010 Olds Lynne Department of Pediatrics, Stanford University Medical Center, Stanford, CA, USA aut Ahn Jong Korea National Open University, Seoul, Korea aut Sibley Eric Department of Pediatrics, Stanford University Medical Center, Stanford, CA, USA aut Human Genetics Springer-Verlag 129/1(2011-01-01), 111-113 0340-6717 129:1<111 2011 129 439 https://doi.org/10.1007/s00439-010-0898-0 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00439-010-0898-0 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Olds Lynne Department of Pediatrics, Stanford University Medical Center, Stanford, CA, USA aut NATIONALLICENCE 700 1- Ahn Jong Korea National Open University, Seoul, Korea aut NATIONALLICENCE 700 1- Sibley Eric Department of Pediatrics, Stanford University Medical Center, Stanford, CA, USA aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 129/1(2011-01-01), 111-113 0340-6717 129:1<111 2011 129 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer