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Nature Genetics
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Nature Genetics
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Nature Genetics
Article . 2007
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Convergent adaptation of human lactase persistence in Africa and Europe

Authors: Tishkoff SA; Reed FA; Ranciaro; Ranciaro A; Voight BF; Babbitt CC; Silverman JS; +17 Authors

Convergent adaptation of human lactase persistence in Africa and Europe

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.

Keywords

Adult, Adaptation, Biological, Lactose, Polymorphism, Single Nucleotide, Europe, Evolution, Molecular, Milk, Gene Frequency, Haplotypes, Africa, Lactose Tolerance Test, Animals, Humans, Caco-2 Cells, Selection, Genetic, Lactase

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citations
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
1K
Top 0.1%
Top 0.1%
Top 0.1%
bronze