ArticleAmerican journal of human genetics2013
Diversity of lactase persistence alleles in Ethiopia: signature of a soft selective sweep.
Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 111 citations in OpenAlex.
- Unlocking Ethiopia's genomic landscape and its global significance: a call for inclusive genomics research.Human genomics · 2026Review
- Sudan's complex genetic admixture history drives adaptation to malaria in Sudanese Copts.Proceedings of the National Academy of Sciences of the United States of America · 2026Article
- The molecular basis of lactase persistence: Linking genetics and epigenetics.Annals of human genetics · 2025Review
- AncestryGrapher toolkit: Python command-line pipelines to visualize global- and local- ancestry inferences from the RFMIX version 2 software.Bioinformatics (Oxford, England) · 2024Article
- Lactase persistence in the Jordanian population: Potential effects of the Arabian Peninsula and Sahara's aridification.Heliyon · 2024Article
- Estimating prevalence of human traits among populations from polygenic risk scores.Human genomics · 2021Article
- Evidence of the interplay of genetics and culture in Ethiopia.Nature communications · 2021Article
- Variable kinship patterns in Neolithic Anatolia revealed by ancient genomes.Current biology : CB · 2021Article
- Structure and ancestry patterns of Ethiopians in genome-wide autosomal DNA.Human molecular genetics · 2021Review
- A Likelihood Approach for Uncovering Selective Sweep Signatures from Haplotype Data.Molecular biology and evolution · 2020Article
- Genetics of Lactose Intolerance: An Updated Review and Online Interactive World Maps of Phenotype and Genotype Frequencies.Nutrients · 2020Review
- Article
- Population genomics of rapid evolution in natural populations: polygenic selection in response to power station thermal effluents.BMC evolutionary biology · 2019Article
- Spatial soft sweeps: Patterns of adaptation in populations with long-range dispersal.PLoS genetics · 2019Article
- Adaptation to milking agropastoralism in Chilean goat herders and nutritional benefit of lactase persistence.Annals of human genetics · 2019Article
- Detection and Classification of Hard and Soft Sweeps from Unphased Genotypes by Multilocus Genotype Identity.Genetics · 2018Article
- Differences in DNA Methylation and Functional Expression in Lactase Persistent and Non-persistent Individuals.Scientific reports · 2018Article
- World-wide distributions of lactase persistence alleles and the complex effects of recombination and selection.Human genetics · 2017Article
- 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 · 2016Article
- Lactase nonpersistence is directed by DNA-variation-dependent epigenetic aging.Nature structural & molecular biology · 2016Article
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Authors and funding
10 authors at 3 institutions in 3 countries.
Funding
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.
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