Convergent adaptation of human lactase persistence in Africa and Europe

Convergent adaptation of human lactase persistence in Africa and Europe

2007 January ; 39(1): 31–40. | 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
The study investigates the genetic basis of lactase persistence in African populations, which is distinct from the European C/T-13910 SNP. Researchers identified three new SNPs (G/C-14010, T/G-13915, and C/G-13907) associated with lactase persistence in East African populations, including Tanzania, Kenya, and Sudan. These SNPs enhance *LCT* promoter activity in vitro and show strong evidence of positive selection, with high levels of haplotype homozygosity extending over 2 Mb in chromosomes carrying the derived alleles. The findings suggest that lactase persistence has evolved independently in African populations due to convergent adaptation to adult milk consumption, driven by cultural practices such as animal domestication. The study also highlights the importance of resequencing multiple populations to identify disease-associated variants and the role of regulatory mutations in recent human evolution.The study investigates the genetic basis of lactase persistence in African populations, which is distinct from the European C/T-13910 SNP. Researchers identified three new SNPs (G/C-14010, T/G-13915, and C/G-13907) associated with lactase persistence in East African populations, including Tanzania, Kenya, and Sudan. These SNPs enhance *LCT* promoter activity in vitro and show strong evidence of positive selection, with high levels of haplotype homozygosity extending over 2 Mb in chromosomes carrying the derived alleles. The findings suggest that lactase persistence has evolved independently in African populations due to convergent adaptation to adult milk consumption, driven by cultural practices such as animal domestication. The study also highlights the importance of resequencing multiple populations to identify disease-associated variants and the role of regulatory mutations in recent human evolution.
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