Convergent adaptation of human lactase persistence in Africa and Europe

Convergent adaptation of human lactase persistence in Africa and Europe

2007 January | Sarah A Tishkoff, Floyd A Reed, Alessia Ranciaro, Benjamin F Voight, Courtney C Babbitt, Jesse S Silverman, Kweli Powell, Holly M Mortensen, Jibril B Hirbo, Maha Osman, Muntaser Ibrahim, Sabah A Omar, Godfrey Lema, Thomas B Nyambo, Jilur Ghori, Suzannah Bumpstead, Jonathan K Pritchard, Gregory A Wray, Panos Deloukas
A SNP in the lactase (LCT) gene (C/T-13910) is associated with lactase persistence in Europeans, but the genetic basis of lactase persistence in Africans was unknown. This study identified three SNPs (G/C-14010, T/G-13915, and C/G-13907) associated with lactase persistence in Africans, which are derived alleles that enhance LCT promoter activity. These SNPs originated on different haplotype backgrounds and show strong selective pressure due to shared cultural traits like animal domestication and adult milk consumption. Lactase persistence is common in African pastoralist populations but rare in non-pastoralist populations. The study found that the C-14010 allele has a strong selective advantage in East Africa, with a long stretch of homozygosity, suggesting recent positive selection. The C-14010, G-13915, and G-13907 alleles are on divergent haplotype backgrounds and show strong association with lactase persistence. These variants likely evolved independently in African populations due to convergent evolution driven by the need for adult milk consumption. The study highlights the importance of regulatory mutations in recent human evolution and the need for further research to identify additional lactase persistence-associated variants in African populations.A SNP in the lactase (LCT) gene (C/T-13910) is associated with lactase persistence in Europeans, but the genetic basis of lactase persistence in Africans was unknown. This study identified three SNPs (G/C-14010, T/G-13915, and C/G-13907) associated with lactase persistence in Africans, which are derived alleles that enhance LCT promoter activity. These SNPs originated on different haplotype backgrounds and show strong selective pressure due to shared cultural traits like animal domestication and adult milk consumption. Lactase persistence is common in African pastoralist populations but rare in non-pastoralist populations. The study found that the C-14010 allele has a strong selective advantage in East Africa, with a long stretch of homozygosity, suggesting recent positive selection. The C-14010, G-13915, and G-13907 alleles are on divergent haplotype backgrounds and show strong association with lactase persistence. These variants likely evolved independently in African populations due to convergent evolution driven by the need for adult milk consumption. The study highlights the importance of regulatory mutations in recent human evolution and the need for further research to identify additional lactase persistence-associated variants in African populations.
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