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Stronger signal of recent selection for lactase persistence in Maasai than in Europeans
Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Ecology and Genetics, Evolutionary Biology. Uppsala University.ORCID iD: 0000-0002-8160-9621
Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Ecology and Genetics, Evolutionary Biology.
Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Ecology and Genetics, Evolutionary Biology.
Uppsala University, Disciplinary Domain of Science and Technology, Biology, Department of Ecology and Genetics, Evolutionary Biology. Uppsala University, Science for Life Laboratory, SciLifeLab.ORCID iD: 0000-0001-7840-7853
2013 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 21, no 5, 550-553 p.Article in journal (Refereed) Published
Abstract [en]

Continued ability to digest lactose after weaning provides a possible selective advantage to individuals who have access to milk as a food source. The lactase persistence (LP) phenotype exists at varying frequencies in different populations and SNPs that modulate the regulation of the LCT gene have been identified in many of these populations. Very strong positive selection for LP has been illustrated for a single SNP (rs4988235) in northwestern European populations, which has become a textbook example of the effect of recent selective sweeps on genetic variation and linkage disequilibrium. In this study, we employed two different methods to detect signatures of positive selection in an East African pastoralist population in the HapMap collection, the Maasai from Kenya, and compared results with other HapMap populations. We found that signatures of recent selection coinciding with the LCT gene are the strongest across the genome in the Maasai population. Furthermore, the genome-wide signal of recent positive selection on haplotypic variation and population differentiation around the LCT gene is greater in the Maasai than in the CEU population (northwestern European descent), possibly due to stronger selection pressure, but it could also be an indication of more recent selection in Maasai compared with the Central European group or more efficient selection in the Maasai due to less genetic drift for their larger effective population size. This signal of recent selection is driven by a putative East African LP haplotype that is different from the haplotype that contributes to the LP phenotype in northwestern Europe.

Place, publisher, year, edition, pages
2013. Vol. 21, no 5, 550-553 p.
National Category
Natural Sciences
Identifiers
URN: urn:nbn:se:uu:diva-181019DOI: 10.1038/ejhg.2012.199ISI: 000317727300012OAI: oai:DiVA.org:uu-181019DiVA: diva2:552691
Note

De 3 första författarna delar förstaförfattarskapet.

Available from: 2012-09-14 Created: 2012-09-14 Last updated: 2017-12-07Bibliographically approved

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Schlebusch, Carina MSjödin, PerSkoglund, PontusJakobsson, Mattias

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