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Nat Genet. 2007 Jan;39(1):31-40. Epub 2006 Dec 10.

Convergent adaptation of human lactase persistence in Africa and Europe.

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  • 1Department of Biology, University of Maryland, College Park, Maryland 20742, USA. Tishkoff@umd.edu

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 approximately 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.

Comment in

  • Following the herd. [Nat Genet. 2007]
PMID:
17159977
[PubMed - indexed for MEDLINE]
PMCID:
PMC2672153
Free PMC Article

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