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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Independent Introduction of Two Lactase-Persistence Alleles into Human Populations Reflects Different History of Adaptation to Milk Culture
American Journal of Human Genetics, Volume 82, No. 1, Year 2008
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Description
The T-13910 variant located in the enhancer element of the lactase (LCT) gene correlates perfectly with lactase persistence (LP) in Eurasian populations whereas the variant is almost nonexistent among Sub-Saharan African populations, showing high prevalence of LP. Here, we report identification of two new mutations among Saudis, also known for the high prevalence of LP. We confirmed the absence of the European T-13910 and established two new mutations found as a compound allele: T/G-13915 within the -13910 enhancer region and a synonymous SNP in the exon 17 of the MCM6 gene T/C-3712, -3712 bp from the LCT gene. The compound allele is driven to a high prevalence among Middle East population(s). Our functional analyses in vitro showed that both SNPs of the compound allele, located 10 kb apart, are required for the enhancer effect, most probably mediated through the binding of the hepatic nuclear factor 1 α (HNF1α). High selection coefficient (s) ∼0.04 for LP phenotype was found for both T-13910 and the compound allele. The European T-13910 and the earlier identified East African G-13907 LP allele share the same ancestral background and most likely the same history, probably related to the same cattle domestication event. In contrast, the compound Arab allele shows a different, highly divergent ancestral haplotype, suggesting that these two major global LP alleles have arisen independently, the latter perhaps in response to camel milk consumption. These results support the convergent evolution of the LP in diverse populations, most probably reflecting different histories of adaptation to milk culture. © 2008 The American Society of Human Genetics.
Available Materials
https://efashare.b-cdn.net/share/pmc/articles/PMC2253962/bin/mmc1.pdf
Authors & Co-Authors
Enattah, Nabil Sabri
Unknown Affiliation
Jensen, Tine G.K.
Unknown Affiliation
Nielsen, Mette
Unknown Affiliation
Lewinski, Rikke
Unknown Affiliation
Kuokkanen, Mikko
Unknown Affiliation
Rasinpera, Heli
Unknown Affiliation
El-Shanti, Hatem I.
Unknown Affiliation
Seo, Jeong Kee
Unknown Affiliation
Alifrangis, Michael
Unknown Affiliation
Khalil, Insaf F.
Unknown Affiliation
Natah, Abdrazak
Unknown Affiliation
Ali, Ahmed Salem
Unknown Affiliation
Natah, S.
Unknown Affiliation
Comas, D.
Unknown Affiliation
Mehdi, Syed Qasim
Unknown Affiliation
Groop, Leif C.
Unknown Affiliation
Vestergaard, Else Marie
Unknown Affiliation
Imtiaz, Faiqa Ahmad
Unknown Affiliation
Rashed, Mohamed S.
Unknown Affiliation
Meyer, Brian Francis
Unknown Affiliation
Troelsen, Jesper Thorvald
Unknown Affiliation
Peltonen-Palotie, Leena Johanna
Unknown Affiliation
Statistics
Citations: 334
Authors: 22
Affiliations: 15
Identifiers
Doi:
10.1016/j.ajhg.2007.09.012
ISSN:
00029297
Research Areas
Cancer
Genetics And Genomics
Study Design
Cross Sectional Study