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Escape from epigenetic silencing of lactase expression is triggered by a single-nucleotide change

The importance of subtle gene regulation and epigenetics in determining complex human traits is increasingly being recognized. However, bridging the gaps between environmental, epigenetic and genetic influences and unraveling causal relationships remain a big challenge. A study now reports an example of epigenetic changes influenced by genetic factors that are involved in the regulation of lactase gene expression.

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Figure 1: Inverse relationship between MCM6 and LCT enhancer methylation and lactase gene expression.


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Correspondence to Dallas M Swallow.

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Swallow, D., Troelsen, J. Escape from epigenetic silencing of lactase expression is triggered by a single-nucleotide change. Nat Struct Mol Biol 23, 505–507 (2016).

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