caa a22 4500 44586091X CHVBK 20180317145442.0 cr unu---uuuuu 170323e20111001xx s 000 0 eng 10.1007/s00439-011-0966-0 doi (NATIONALLICENCE)springer-10.1007/s00439-011-0966-0 The −14010*C variant associated with lactase persistence is located between an Oct-1 and HNF1α binding site and increases lactase promoter activity [Elektronische Daten] [Tine Jensen, Anke Liebert, Rikke Lewinsky, Dallas Swallow, Jørgen Olsen, Jesper Troelsen] In most people worldwide intestinal lactase expression declines in childhood. In many others, particularly in Europeans, lactase expression persists into adult life. The lactase persistence phenotype is in Europe associated with the −13910*T single nucleotide variant located 13,910bp upstream the lactase gene in an enhancer region that affects lactase promoter activity. This variant falls in an Oct-1 binding site and shows greater Oct-1 binding than the ancestral variant and increases enhancer activity. Several other variants have been identified very close to the −13910 position, which are associated with lactase persistence in the Middle East and Africa. One of them, the −14010*C, is associated with lactase persistence in Africa. Here we show by deletion analysis that the −14010 position is located in a 144bp region that reduces the enhancer activity. In transfections the −14010*C allele shows a stronger enhancer effect than the ancestral −14010*G allele. Binding sites for Oct-1 and HNF1α surrounding the −14010 position were identified by gel shift assays, which indicated that −14010*C has greater binding affinity to Oct-1 than −14010*G. Springer-Verlag, 2011 Jensen Tine Department of Cellular and Molecular Medicine, Panum Institute, Building 6.4, University of Copenhagen, Blegdamsvej 3B, 2200, Copenhagen N, Denmark aut Liebert Anke Research Department of Genetics, Evolution and Environment, University College London, NW1 2HE, London, UK aut Lewinsky Rikke Department of Cellular and Molecular Medicine, Panum Institute, Building 6.4, University of Copenhagen, Blegdamsvej 3B, 2200, Copenhagen N, Denmark aut Swallow Dallas Research Department of Genetics, Evolution and Environment, University College London, NW1 2HE, London, UK aut Olsen Jørgen Department of Cellular and Molecular Medicine, Panum Institute, Building 6.4, University of Copenhagen, Blegdamsvej 3B, 2200, Copenhagen N, Denmark aut Troelsen Jesper Department of Cellular and Molecular Medicine, Panum Institute, Building 6.4, University of Copenhagen, Blegdamsvej 3B, 2200, Copenhagen N, Denmark aut Human Genetics Springer-Verlag 130/4(2011-10-01), 483-493 0340-6717 130:4<483 2011 130 439 https://doi.org/10.1007/s00439-011-0966-0 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00439-011-0966-0 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Jensen Tine Department of Cellular and Molecular Medicine, Panum Institute, Building 6.4, University of Copenhagen, Blegdamsvej 3B, 2200, Copenhagen N, Denmark aut NATIONALLICENCE 700 1- Liebert Anke Research Department of Genetics, Evolution and Environment, University College London, NW1 2HE, London, UK aut NATIONALLICENCE 700 1- Lewinsky Rikke Department of Cellular and Molecular Medicine, Panum Institute, Building 6.4, University of Copenhagen, Blegdamsvej 3B, 2200, Copenhagen N, Denmark aut NATIONALLICENCE 700 1- Swallow Dallas Research Department of Genetics, Evolution and Environment, University College London, NW1 2HE, London, UK aut NATIONALLICENCE 700 1- Olsen Jørgen Department of Cellular and Molecular Medicine, Panum Institute, Building 6.4, University of Copenhagen, Blegdamsvej 3B, 2200, Copenhagen N, Denmark aut NATIONALLICENCE 700 1- Troelsen Jesper Department of Cellular and Molecular Medicine, Panum Institute, Building 6.4, University of Copenhagen, Blegdamsvej 3B, 2200, Copenhagen N, Denmark aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 130/4(2011-10-01), 483-493 0340-6717 130:4<483 2011 130 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer