Article
In Vitro Functional Analyses of Infrequent Nucleotide Variants in the Lactase Enhancer Reveal Different Molecular Routes to Increased Lactase Promoter Activity and Lactase Persistence.
Annals of human genetics - 1 Nov 2016
Liebert Anke, Jones Bryony L, Danielsen Erik Thomas, Olsen Anders Krüger, Swallow Dallas M, Troelsen Jesper T
Abstract excerpt
The genetic trait that allows intestinal lactase to persist into adulthood in some 35% of humans worldwide operates at the level of transcription, the effect being caused by cis-acting nucleotide changes upstream of the lactase gene (LCT). A single nucleotide substitution, -13910 C>T, the first causal variant to be identified, accounts for lactase persistence over most of Europe. Located in a region shown to have...
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