The −14010*C variant associated with lactase persistence is located between an Oct-1 and HNF1α binding site and increases lactase promoter activity

@article{Jensen2011TheV,
  title={The −14010*C variant associated with lactase persistence is located between an Oct-1 and HNF1$\alpha$ binding site and increases lactase promoter activity},
  author={Tine G. K. Jensen and Anke Liebert and Rikke H. Lewinsky and Dallas M. Swallow and J{\o}rgen Olsen and Jesper Thorvald Troelsen},
  journal={Human Genetics},
  year={2011},
  volume={130},
  pages={483-493}
}
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 13,910 bp 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… 
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
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TLDR
New data on the frequencies of the known LP alleles in the ‘Old World’ and their haplotype lineages is reported and the results show how such suppression of recombination may have exaggerated haplotype-based measures of past selection.
Transcriptional heterogeneity in the lactase gene within cell-type is linked to the epigenome
TLDR
Epigenetic divergence within enterocytes may contribute to the functional specialization of intestinal subregions and epigenetic modifications in combination with CTCF binding at regulatory elements account for the transcriptional gradient in Lct in cells of the same type.
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TLDR
Oct-1 is shown to interact with the −13915*G SNP region DNA sequence by EMSAs and gel supershift and is capable of enhancing promoter activity of a lactase promoter–reporter construct harboring the 13915*g SNP sequence in cell culture.
T-13910 DNA variant associated with lactase persistence interacts with Oct-1 and stimulates lactase promoter activity in vitro.
TLDR
The data suggest that the binding of Oct-1 to the T-13,910 variant directs increased lactase promoter activity and this might provide an explanation for the lactase persistence phenotype in the human population.
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TLDR
The discovery of a functional difference between the 2 alleles at position -13910 supports the notion that the molecular difference between lactase persistence and nonpersistence is caused by the mutation at position-13910.
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TLDR
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TLDR
The DNA region of the C/T_(13910) lactase persistence/non-persistence variant functions in vitro as a cis element capable of enhancing differential transcriptional activation of the lactase promoter.
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TLDR
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TLDR
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TLDR
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The T/G−13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi population
TLDR
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