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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Convergent adaptation of human lactase persistence in Africa and Europe
Nature Genetics, Volume 39, No. 1, Year 2007
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Description
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. © 2006 Nature Publishing Group.
Authors & Co-Authors
Tishkoff, Sarah A.
United States, College Park
University of Maryland, College Park
Reed, Floyd A.
United States, College Park
University of Maryland, College Park
Ranciaro, Alessia
United States, College Park
University of Maryland, College Park
Italy, Ferrara
University of Ferrara
Voight, Benjamin F.
United States, Chicago
The University of Chicago
Babbitt, Courtney C.
United States, Durham
Duke University
Silverman, Jesse S.
United States, Durham
Duke University
Powell, Kweli
United States, College Park
University of Maryland, College Park
Mortensen, Holly
United States, College Park
University of Maryland, College Park
Hirbo, Jibril B.
United States, College Park
University of Maryland, College Park
Osman, Maha
Sudan, Khartoum
Khartoum University
Ibrahim, Muntaser Eltayeb
Sudan, Khartoum
Khartoum University
Omar, Sabah Ahmed
Kenya, Nairobi
Kenya Medical Research Institute
Lema, Godfrey
Tanzania, Dar es Salaam
Muhimbili University of Health and Allied Sciences
Nyambo, Thomas B.
Tanzania, Dar es Salaam
Muhimbili University of Health and Allied Sciences
Ghori, Jilur
United Kingdom, Hinxton
Wellcome Sanger Institute
Bumpstead, Suzannah J.
United Kingdom, Hinxton
Wellcome Sanger Institute
Pritchard, Jonathan K.
United States, Chicago
The University of Chicago
Wray, Gregory Allan
United States, Durham
Duke University
Deloukas, Panos
United Kingdom, Hinxton
Wellcome Sanger Institute
Statistics
Citations: 1,370
Authors: 19
Affiliations: 8
Identifiers
Doi:
10.1038/ng1946
ISSN:
10614036
e-ISSN:
15461718
Research Areas
Genetics And Genomics