The DOI matches its Crossref record; 75 of the 79 references it cites were found in a registry or an index.
The Origins of Lactase Persistence in Europe
Open accessAbstract
Lactase persistence (LP) is common among people of European ancestry, but with the exception of some African, Middle Eastern and southern Asian groups, is rare or absent elsewhere in the world. Lactase gene haplotype conservation around a polymorphism strongly associated with LP in Europeans (-13,910 C/T) indicates that the derived allele is recent in origin and has been subject to strong positive selection. Furthermore, ancient DNA work has shown that the--13,910*T (derived) allele was very rare or absent in early Neolithic central Europeans. It is unlikely that LP would provide a selective advantage without a supply of fresh milk, and this has lead to a gene-culture coevolutionary model where lactase persistence is only favoured in cultures practicing dairying, and dairying is more favoured in lactase persistent populations. We have developed a flexible demic computer simulation model to explore the spread of lactase persistence, dairying, other subsistence practices and unlinked genetic markers in Europe and western Asia's geographic space. Using data on--13,910*T allele frequency and farming arrival dates across Europe, and approximate Bayesian computation to estimate parameters of interest, we infer that the--13,910*T allele first underwent selection among dairying farmers around 7,500 years ago in a region between the central Balkans and central Europe, possibly in association with the dissemination of the Neolithic Linearbandkeramik culture over Central Europe. Furthermore, our results suggest that natural selection favouring a lactase persistence allele was not higher in northern latitudes through an increased requirement for dietary vitamin D. Our results provide a coherent and spatially explicit picture of the coevolution of lactase persistence and dairying in Europe.
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“although the selective sweep has been modelled as originating between Central Europe and the Balkans ~4–6,000 years BC (ref. 34).”
From Genome flux and stasis in a five millennium transect of European prehistory (2014) · cites this paper as [34]
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Cites
The History and Geography of Human Genes
Cavalli-Sforza, L. L., Menozzi, P., & Piazza, A. (2018) · Princeton University Press eBooks · doi:10.2307/j.ctv301gjp · Cited by 3,175
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Beaumont, M. A., Zhang, W., & Balding, D. J. (2002) · Genetics · doi:10.1093/genetics/162.4.2025 · Cited by 2,932
Self-citationHistory and Geography of Human Genes
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Convergent adaptation of human lactase persistence in Africa and Europe
Tishkoff, S. A., Reed, F. A., Ranciaro, A., Voight, B. F., Babbitt, C. C., Silverman, J. S., Powell, K., Mortensen, H. M., Hirbo, J. B., Osman, M., et al. (2007) · Nature Genetics · doi:10.1038/ng1946 · Cited by 1,615 · cited 1×
“In Africa there are at least four known LP-associated alleles, including three that are likely to be of African origin [2,4] as well as 213,910*T, which is likely to be of European origin [3,12].”
BackgroundA Mathematical Theory of Natural and Artificial Selection, Part V: Selection and Mutation
Haldane, J. B. S. (1927) · Mathematical Proceedings of the Cambridge Philosophical Society · doi:10.1017/s0305004100015644 · Cited by 1,326 · cited 1×
“While we would expect any de novo mutation to always have an initial frequency of 1/2N, we also expect that it will have a high probability of extinction unless selection is very strong [79].”
BackgroundGenetic Signatures of Strong Recent Positive Selection at the Lactase Gene
Bersaglieri, T., Sabeti, P. C., Patterson, N. J., Vanderploeg, T. N., Schaffner, S. F., Drake, J. A., Rhodes, M. E., Reich, D., & Hirschhorn, J. N. (2004) · The American Journal of Human Genetics · doi:10.1086/421051 · Cited by 1,169 · cited 15×
“063 16 [8] 1699 7274 (69) 7112 (76) 43.”
BackgroundResultInfluentialIdentification of a variant associated with adult-type hypolactasia
Enattah, N. S., Sahi, T., Savilahti, E., Terwilliger, J. D., Peltonen, L., & Järvelä, I. E. (2002) · Nature Genetics · doi:10.1038/ng826 · Cited by 1,029 · cited 1×
“91 kb upstream from the lactase gene [5].”
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Evershed, R. P., Payne, S., Sherratt, A. G., Copley, M. S., Coolidge, J., Urem-Kotsu, D., Kotsakis, K., Özdoğan, M., Özdoğan, A. E., Nieuwenhuyse, O., et al. (2008) · Nature · doi:10.1038/nature07180 · Cited by 681 · cited 4×
“Recent carbon isotope ratios from lipids extracted from archaeological sherds show the presence of milk fats in present-day western Turkey and connect these findings to an increased importance of cattle herding [26,45–48].”
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“related studies [33–36] the one we present is stochastic and more parameter-heavy.”
BackgroundMethodThe Fate of Mutations Surfing on the Wave of a Range Expansion
Klopfstein, S., Currat, M., & Excoffier, L. (2006) · Molecular Biology and Evolution · doi:10.1093/molbev/msj057 · Cited by 641 · cited 2×
“However, previous simulations have shown that the geographic centroid of allele can be offset from its location of origin, particularly when it occurs on the wave front of a demographic expansion [29,30].”
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Flagged first, then by citations
4 of the 79 references couldn’t be matched to a known paper.
Research works printed but not linked: 2
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- JD Vigne, 2007, Was milk a “secondary product” in the Old World Neolithisation process? Its role in the domestication of cattle, sheep and goats., Anthropozoologica, 42, 9
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Metadata
- Authors
- Itan, Y., Powell, A., Beaumont, M. A., Burger, J., & Thomas, M. G.
- Affiliations
- University College London (GB)
- University of Reading (GB)
- Corresponding author
- Thomas, Mark G.
- Venue
- PLoS Computational Biology
- Publisher
- Public Library of Science (PLoS)
- Published
- 2009-08-28
- Volume
- 5
- Issue
- 8
- Pages
- e1000491
- ISSN
- 1553-734X (ISSN-L)
- 1553-7358
- PMC
- PMC2722739
- OpenAlex
- W2151227169
- Cited by
- 569
- References
- 79
- Citations by year
- 2026: 16 · 2025: 52 · 2024: 18 · 2023: 17 · 2022: 20 · 2021: 31 · 2020: 39 · 2019: 43 · 2018: 26 · 2017: 44 · 2016: 29 · 2015: 46 · 2014: 46 · 2013: 39 · 2012: 41
- FWCI
- 19.89
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Locations
- PLoS Computational Biology (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- RePEc: Research Papers in Economics (submittedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- UCL Discovery (University College London) (submittedVersion)
- Figshare (submittedVersion, cc-by)
- MPG.PuRe (Max Planck Society) (submittedVersion, other-oa)
- Explore Bristol Research (submittedVersion)
- Bristol Research (University of Bristol) (submittedVersion, cc-by)
- Funders
- Arts and Humanities Research Council
- Topics
- Health Sciences › Medicine › Gastroenterology › Digestive system and related health
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and phenotypic traits in livestock
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Forensic and Genetic Research
- Keywords
- lactase persistence, lactase gene, dairy production, gene-culture coevolution, positive selection, Neolithic, demic diffusion, approximate Bayesian computation, vitamin D, European ancestry, ancient DNA, subsistence strategies, West Asia
- MeSH terms
- Alleles, Bayes Theorem, Computer Simulation, Diet, Europe, Gene Frequency, Genetic Markers, Geography, Haplotypes, Humans, Lactose, Polymorphism, Genetic, Vitamin D, Evolution, Molecular, Computational Biology, Lactase
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