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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Genetic origins of lactase persistence and the spread of pastoralism in africa
American Journal of Human Genetics, Volume 94, No. 4, Year 2014
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Description
In humans, the ability to digest lactose, the sugar in milk, declines after weaning because of decreasing levels of the enzyme lactase-phlorizin hydrolase, encoded by LCT. However, some individuals maintain high enzyme amounts and are able to digest lactose into adulthood (i.e., they have the lactase-persistence [LP] trait). It is thought that selection has played a major role in maintaining this genetically determined phenotypic trait in different human populations that practice pastoralism. To identify variants associated with the LP trait and to study its evolutionary history in Africa, we sequenced MCM6 introns 9 and 13 and ∼2 kb of the LCT promoter region in 819 individuals from 63 African populations and in 154 non-Africans from nine populations. We also genotyped four microsatellites in an ∼198 kb region in a subset of 252 individuals to reconstruct the origin and spread of LP-associated variants in Africa. Additionally, we examined the association between LP and genetic variability at candidate regulatory regions in 513 individuals from eastern Africa. Our analyses confirmed the association between the LP trait and three common variants in intron 13 (C-14010, G-13907, and G-13915). Furthermore, we identified two additional LP-associated SNPs in intron 13 and the promoter region (G-12962 and T-956, respectively). Using neutrality tests based on the allele frequency spectrum and long-range linkage disequilibrium, we detected strong signatures of recent positive selection in eastern African populations and the Fulani from central Africa. In addition, haplotype analysis supported an eastern African origin of the C-14010 LP-associated mutation in southern Africa. © 2014 The American Society of Human Genetics.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC3980415/bin/mmc1.pdf
https://efashare.b-cdn.net/share/pmc/articles/PMC3980415/bin/mmc2.xlsx
https://efashare.b-cdn.net/share/pmc/articles/PMC3980415/bin/mmc3.pdf
Authors & Co-Authors
Ranciaro, Alessia
United States, Philadelphia
University of Pennsylvania
Campbell, Michael C.
United States, Philadelphia
University of Pennsylvania
Hirbo, Jibril B.
United States, Philadelphia
University of Pennsylvania
Ko, Wenya
United States, Philadelphia
University of Pennsylvania
Froment, Alain
France, Paris
Museé de L'homme
Anagnostou, Paolo
Italy, Rome
Sapienza Università Di Roma
Italy, Rome
Istituto Italiano Di Antropologia
Kotze, Maritha J.
South Africa, Stellenbosch
Stellenbosch University
Ibrahim, Muntaser Eltayeb
Sudan, Khartoum
Khartoum University
Nyambo, Thomas B.
Tanzania, Dar es Salaam
Muhimbili University of Health and Allied Sciences
Omar, Sabah Ahmed
Kenya, Nairobi
Kenya Medical Research Institute
Tishkoff, Sarah A.
United States, Philadelphia
University of Pennsylvania
Statistics
Citations: 182
Authors: 11
Affiliations: 8
Identifiers
Doi:
10.1016/j.ajhg.2014.02.009
ISSN:
00029297
e-ISSN:
15376605
Research Areas
Cancer
Genetics And Genomics