Article abstract
Nature Genetics 39, 31 - 40 (2006)
Published online: 10 December 2006 | doi:10.1038/ng1946
Convergent adaptation of human lactase persistence in Africa and Europe
Sarah A Tishkoff1,9, Floyd A Reed1,9, Alessia Ranciaro1,2, Benjamin F Voight3, Courtney C Babbitt4, Jesse S Silverman4, Kweli Powell1, Holly M Mortensen1, Jibril B Hirbo1, Maha Osman5, Muntaser Ibrahim5, Sabah A Omar6, Godfrey Lema7, Thomas B Nyambo7, Jilur Ghori8, Suzannah Bumpstead8, Jonathan K Pritchard3, Gregory A Wray4 & Panos Deloukas8
Abstract
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.
- Department of Biology, University of Maryland, College Park, Maryland 20742, USA.
- Department of Biology, University of Ferrara, 44100 Ferrara, Italy.
- Department of Human Genetics, University of Chicago, Chicago, Illinois 60637, USA.
- Institute for Genome Sciences & Policy and Department of Biology, Duke University, Durham, North Carolina 27708, USA.
- Department of Molecular Biology, Institute of Endemic Diseases, University of Khartoum, 15-13 Khartoum, Sudan.
- Kenya Medical Research Institute, Centre for Biotechnology Research and Development, 54840-00200 Nairobi, Kenya.
- Department of Biochemistry, Muhimbili University College of Health Sciences, Dar es Salaam, Tanzania.
- Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
- These authors contributed equally to this work.
Correspondence to: Sarah A Tishkoff1,9 e-mail: Tishkoff@umd.edu
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