Journal article
Independent Introduction of Two Lactase-Persistence Alleles into Human Populations Reflects Different History of Adaptation to Milk Culture
American journal of human genetics, Vol.82(1), pp.57-72
2008
DOI: 10.1016/j.ajhg.2007.09.012
PMID: 18179885
Abstract
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 alpha (HNF1 alpha). High selection coefficient (s) approximately 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.
Details
- Title: Subtitle
- Independent Introduction of Two Lactase-Persistence Alleles into Human Populations Reflects Different History of Adaptation to Milk Culture
- Creators
- NABIL SABRI ENATTAH - Department of Molecular Medicine, National Public Health Institute, Biomedicum Helsinki, 00251 Helsinki, FinlandTine G. K JENSEN - Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, 2200 Copenhagen, DenmarkAbdrazak NATAH - Program of Natural Sciences, Faculty of Science, Health Sciences Center, University of Calgary, Alberta T2N 1N4, CanadaAhmed ALI - Department of Anatomy, Institute of Clinical Medicine, University of Helsinki, 00014 Helsinki, FinlandSirajedin NATAH - Department of Physiology, Biophysics and Medicine, Gastrointestinal Division, Health Sciences Center, University of Calgary, Alberta T2N 1N4, CanadaDavid COMAS - Department of Evolutionary Biology, Faculty of Health and Life Sciences, University of Pompeu Fabra, 08003 Barcelona, SpainS QASIM MEHDI - Institute of Biotechnology and Genetic Engineering (KIBGE), University of Karachi, 75270 Karachi, PakistanLeif GROOP - Department of Endocrinology, Malmö University Hospital, 205 02 Malmö, SwedenElse Marie VESTERGAARD - Department of Clinical Biochemistry, Aarhus University Hospital, 8000 Aarhus, DenmarkFaiqa IMTIAZ - Arabian Diagnostics Laboratory, Research Centre, King Faisal Specialist Hospital & Research Centre, Riyadh 11211, Saudi ArabiaMohamed S RASHED - National Newborn Screening Laboratory, Research Centre, King Faisal Specialist Hospital & Research Centre, Riyadh 11211, Saudi ArabiaBrian MEYER - Arabian Diagnostics Laboratory, Research Centre, King Faisal Specialist Hospital & Research Centre, Riyadh 11211, Saudi ArabiaMette NIELSEN - Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, 2200 Copenhagen, DenmarkJesper TROELSEN - Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, 2200 Copenhagen, DenmarkLeena PELTONEN - Department of Molecular Medicine, National Public Health Institute, Biomedicum Helsinki, 00251 Helsinki, FinlandRikke LEWINSKI - Department of Cellular and Molecular Medicine, Panum Institute, University of Copenhagen, 2200 Copenhagen, DenmarkMikko KUOKKANEN - Department of Molecular Medicine, National Public Health Institute, Biomedicum Helsinki, 00251 Helsinki, FinlandHeli RASINPERA - Department of Molecular Medicine, National Public Health Institute, Biomedicum Helsinki, 00251 Helsinki, FinlandHatem EL-SHANTI - Division of Medical Genetics, University of Iowa Hospital & Clinics, 2615 JCP, 200 Hawkins Drive, Iowa City, IA 52242, United StatesJEONG KEE SEO - Department of Pediatrics, Seoul National University College of Medicine, Clinical Research Institute, Seoul National University Hospital, Seoul 110-774, Korea, Republic ofMichael ALIFRANGIS - Centre for Medical Parasitology, Department of International Health, Immunology and Microbiology, CSS, University of Copenhagen, 1014 Copenhagen, DenmarkInsaf F KHALIL - Centre for Medical Parasitology, Department of International Health, Immunology and Microbiology, CSS, University of Copenhagen, 1014 Copenhagen, Denmark
- Resource Type
- Journal article
- Publication Details
- American journal of human genetics, Vol.82(1), pp.57-72
- Publisher
- University of Chicago Press
- DOI
- 10.1016/j.ajhg.2007.09.012
- PMID
- 18179885
- ISSN
- 0002-9297
- eISSN
- 1537-6605
- Language
- English
- Date published
- 2008
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984093213402771
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