The -13910 mutation upstream of the lactase coding region creates a binding site for the transcription factor Oct1. Oct 1 can form a complex with HNF1⍺, a transcription factor with a binding site just upstream of the LCT coding region. This binding bends the DNA and helps to initiate transcription of LCT. This mutation allows lactase to be produced past childhood and into adulthood, allowing consumption and processing of lactose without repercussions to the body.
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lactase, human evolution, enhancer, Oct1, HNF1, evolution, development, evodevo