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Diversity of Lactase Persistence Alleles in Ethiopia: Signature of a Soft Selective Sweep

Jones, BL; Raga, TO; Liebert, A; Zmarz, P; Bekele, E; Danielsen, ET; Olsen, AK; ... Swallow, DM; + view all (2013) Diversity of Lactase Persistence Alleles in Ethiopia: Signature of a Soft Selective Sweep. AJHG: The American Journal of Human Genetics , 93 (3) pp. 538-544. 10.1016/j.ajhg.2013.07.008. Green open access

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Abstract

The persistent expression of lactase into adulthood in humans is a recent genetic adaptation that allows the consumption of milk from other mammals after weaning. In Europe, a single allele (-13910(∗)T, rs4988235) in an upstream region that acts as an enhancer to the expression of the lactase gene LCT is responsible for lactase persistence and appears to have been under strong directional selection in the last 5,000 years, evidenced by the widespread occurrence of this allele on an extended haplotype. In Africa and the Middle East, the situation is more complicated and at least three other alleles (-13907(∗)G, rs41525747; -13915(∗)G, rs41380347; -14010(∗)C, rs145946881) in the same LCT enhancer region can cause continued lactase expression. Here we examine the LCT enhancer sequence in a large lactose-tolerance-tested Ethiopian cohort of more than 350 individuals. We show that a further SNP, -14009T>G (ss 820486563), is significantly associated with lactose-digester status, and in vitro functional tests confirm that the -14009(∗)G allele also increases expression of an LCT promoter construct. The derived alleles in the LCT enhancer region are spread through several ethnic groups, and we report a greater genetic diversity in lactose digesters than in nondigesters. By examining flanking markers to control for the effects of mutation and demography, we further describe, from empirical evidence, the signature of a soft selective sweep.

Type: Article
Title: Diversity of Lactase Persistence Alleles in Ethiopia: Signature of a Soft Selective Sweep
Open access status: An open access version is available from UCL Discovery
DOI: 10.1016/j.ajhg.2013.07.008
Publisher version: http://dx.doi.org/10.1016/j.ajhg.2013.07.008
Language: English
Additional information: © 2013 Copyright © 2013 The Authors. Published by Elsevier Inc. All rights reserved. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Life Sciences > Div of Biosciences > Genetics, Evolution and Environment
URI: https://discovery.ucl.ac.uk/id/eprint/1404767
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