Neanderthal adaptive introgression shaped <i>LCT</i> enhancer region diversity without linking to lactase persistence in East Asian populations.

ABSTRACT: Positive selection at the 2q21.3 enhancer region for lactase gene (LCT) expression in Europeans and Africans has long been attributed to selection for lactase persistence (LP), the capacity of adults to digest lactose in milk, presumably because of the benefits associated with milk consumption. While considered a classic example of gene-culture coevolution, recently doubts have been raised about the link between selection at 2q21.3 and LP. Analysis of additional populations could shed further light; here, we demonstrate that a haplotype spanning ~467 kb at the 2q21.3 locus has risen to high frequency in East Asians (~25%) but is absent from Africans and Europeans. This haplotype likely derived from Neanderthals and has been under positive selection in East Asians. The East Asian-spe

SUBMITTER: Ma X 

PROVIDER: S-EPMC11929401 | biostudies-literature | 2025 Mar

REPOSITORIES: biostudies-literature