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Lactase Persistence...
Lactase Persistence Alleles Reveal Partial East African Ancestry of Southern African Khoe Pastoralists
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- Breton, Gwenna (författare)
- Uppsala universitet,Evolutionsbiologi,Jakobsson Lab
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- Schlebusch, Carina M. (författare)
- Uppsala universitet,Evolutionsbiologi,Uppsala University,Jakobsson Lab
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Lombard, Marlize (författare)
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- Sjödin, Per (författare)
- Uppsala universitet,Evolutionsbiologi,Jakobsson Lab
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Soodyall, Himla (författare)
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- Jakobsson, Mattias (författare)
- Uppsala universitet,Science for Life Laboratory, SciLifeLab,Evolutionsbiologi,Jakobsson Lab
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(creator_code:org_t)
- Elsevier BV, 2014
- 2014
- Engelska.
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Ingår i: Current Biology. - : Elsevier BV. - 0960-9822 .- 1879-0445. ; 24:8, s. 852-858
- Relaterad länk:
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http://www.cell.com/...
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https://urn.kb.se/re...
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https://doi.org/10.1...
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Abstract
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- The ability to digest milk into adulthood, lactase persistence (LP), as well as specific genetic variants associated with LP, is heterogeneously distributed in global populations [1-4]. These variants were most likely targets of selection when some populations converted from hunter-gatherer to pastoralist or farming lifestyles [5-7]. Specific LP polymorphisms are associated with particular geographic regions and populations [1-4, 8-10]; however, they have not been extensively studied in southern Africa. We investigate the LP-regulatory region in 267 individuals from 13 southern African populations (including descendants of hunter-gatherers, pastoralists, and agropastoralists), providing the first comprehensive study of the LP-regulatory region in a large group of southern Africans. The "East African" LP single-nucleotide polymorphism (SNP) (14010G>C) was found at high frequency (>20%) in a strict pastoralist Khoe population, the Nama of Namibia, suggesting a connection to East Africa, whereas the "European" LP SNP (13910C>T) was found in populations of mixed ancestry. Using genome-wide data from various African populations, we identify admixture (13%) in the Nama, from an Afro-Asiatic group dating to >1,300 years ago, with the remaining fraction of their genomes being from San hunter-gatherers. We also find evidence of selection around the LCT gene among Khoe-speaking groups, and the substantial frequency of the 14010C variant among the Nama is best explained by adaptation to digesting milk. These genome-local and genome-wide results support a model in which an East African group brought pastoralist practices to southern Africa and admixed with local hunter-gatherers to form the ancestors of Khoe people.
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- art (ämneskategori)
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