Convergent adaptation of human lactase persistence in Africa and Europe

By S. Tishkoff, F. A. Reed, A. Ranciaro, Benjamin F. Voight, C. Babbitt, J. S. Silverman, Kweli Powell, Holly M. Mortensen, J. Hirbo, Maha M. Osman and 9 more. Nature Genetics, 2006

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A SNP in the gene encoding lactase (LCT) (C/T-13910) is associated with the ability to digest milk as adults (lactase persistence) in Europeans, but the genetic basis of lactase persistence in Africans was previously unknown. We conducted a genotype-phenotype association study in 470 Tanzanians, Kenyans and Sudanese and identified three SNPs (G/C-14010, T/G-13915 and C/G-13907) that are associated with lactase persistence and that have derived alleles that significantly enhance transcription from the LCT promoter in vitro. These SNPs originated on different haplotype backgrounds from the European C/T-13910 SNP and from each other. Genotyping across a 3-Mb region demonstrated haplotype homozygosity extending >2.0 Mb on chromosomes carrying C-14010, consistent with a selective sweep over the past ∼7,000 years. These data provide a marked example of convergent evolution due to strong selective pressure resulting from shared cultural traits—animal domestication and adult milk consumption.

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Citations in the corpus

Forage collection, substrate preparation, and diet composition in fungus‐growing ants (2010, background): “Likewise, animal husbandry has also influenced the frequency of human lactose tolerance in populations where adult ability to digest milk gave significant fitness benefits (Tishkoff et al., 2007).”
The burden of proof for a cultural group selection account (2014, background): “Holocene, as agricultural diets exerted selective pressures on digestive physiology (Itan, Powell, Beaumont, Burger, & Thomas, 2009; Tishkoff et al., 2007) and human populations became dense enough to carry epidemic diseases (Wolfe, Dunavan, & Diamond, 2007).”
The evolution of lactase persistence in Europe. A synthesis of archaeological and genetic evidence (2012, background): “It is interesting to note that similar but slightly younger age estimates have been obtained for one of the major African LP variants, 14,010*C (Tishkoff et al., 2007).”
Multi-population GWA mapping via multi-task regularized regression (2010, unknown): “Availability: Software will be available at http://www.sailing.cs.cmu .edu/ Contact: epxing@cs.cmu.edu”
Fast Principal-Component Analysis Reveals Convergent Evolution of ADH1B in Europe and East Asia. (2016, unknown): “10 √M Σk yivk~N(0,1) M Σk 2 (yivk) (2)~χ1 2 (11)”
The QTN Program and the Alleles That Matter for Evolution: All That’s Gold Does Not Glitter (2011, unknown): “…[2008]), or about the genetics of trait loss under relaxed selection, or about genetic network evolution in the absence of phenotypic change (Weiss and Fullerton 2000; True and Haag 2001; Haag 2007)—the geometric model of adaptive fixation provides little or no guidance (nor is it intended to).”
How culture shaped the human genome: bringing genetics and the human sciences together (2010, background): “For instance, several lines of evidence show that dairy farming created the selective environment that favoured the spread of alleles for adult lactose toleranc”
Natural selection has driven population differentiation in modern humans (2008, background): “For example, there is evidence that the population prevalence of some human phenotypes, such as resistance to malaria or lactose tolerance in adulthood, results from natural selection in response to idiosyncratic condition”
Domesticating Animals in Africa: Implications of Genetic and Archaeological Findings (2011, background): “Tishkoff et al. (2007) have investigated the genetic basis of lactase persistence in East African populations, finding that, in place of the Eurasian mutation, three mutations facilitating lactase persistence exist in different populations.”