• Corpus ID: 82013941

Evolutionary and molecular genetics of regulatory alleles responsible for lactase persistence

  title={Evolutionary and molecular genetics of regulatory alleles responsible for lactase persistence},
  author={Anke Liebert},
Persistence of lactase into adulthood varies in frequency worldwide and is attributable to several different single nucleotide changes in an enhancer of the LCT gene. One of these is at particularly high frequencies in Europeans and several others have been found elsewhere. However, information about their worldwide distribution is patchy. 2056 DNA samples from populations of Europe, Asia and the Middle East were sequenced to examine the distribution of allelic variants of the LCT enhancer… 
1 Citations
Escape from epigenetic silencing of lactase gene expression triggered by a single nucleotide change
An example of epigenetic changes influenced by genetic factors that are involved in the regulation of lactase gene expression is reported, which shows the importance of subtle gene regulation and epigenetics in determining complex human traits.


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This thesis investigates genetic diversity across the lactase enhancer region, and two flanking regions approximately 16kb upstream and 14kb downstream of the enhancer, and attempts to refine the sequence region that is likely to have been important in the evolution of this adaptive trait.
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Diversity of lactase persistence alleles in Ethiopia: signature of a soft selective sweep.
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