

Genome-wide studies of African populations have the potential to reveal powerful insights into the evolution of our species, as these diverse populations have been exposed to intense selective pressures imposed by infectious diseases, diet, and environmental factors. Within Africa, the Sahel Belt extensively overlaps the geographical center of several endemic infections such as malaria, trypanosomiasis, meningitis, and hemorrhagic fevers. We screened 2.5 million single nucleotide polymorphisms in 161 individuals from 13 Sahelian populations, which together with published data cover Western, Central, and Eastern Sahel, and include both nomadic and sedentary groups. We confirmed the role of this Belt as amain corridor forhuman migrations across the continent. Strong admixture was observed in both Central and Eastern Sahelian populations, with North Africans and Near Eastern/Arabians, respectively, but it was inexistent in Western Sahelian populations. Genome-wide local ancestry inference in admixed Sahelian populations revealed several candidate regions that were significantly enriched for non-autochthonous haplotypes, and many showed to be under positive selection. The DARC gene region in Arabs and Nubians was enriched for African ancestry, whereas the RAB3GAP1/LCT/MCM6region in Oromo, the TAS2R gene family in Fulani, and the ALMS1/NAT8 in Turkana and Samburu were enriched for non-African ancestry. Signals of positive selection varied in terms of geographic amplitude. Some genomic regions were selected across the Belt, the most striking example being the malaria-related DARC gene. Others were Western-specific (oxytocin, calcium, and heart pathways), Eastern-specific (lipid pathways), or even population-restricted (TAS2R genes in Fulani, which may reflect sexual selection). © 2015 The Author(s).
| EMTREE drug terms: | acyltransferaseALMS1 protein, humanblood group Duffy systemcell surface receptorDARC protein, humanG protein coupled receptorMCM6 protein, humanminichromosome maintenance protein 6NAT8 protein, humanproteinTAS2R1 protein, human |
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| EMTREE medical terms: | Africablood group Duffy systemgenetic selectiongeneticshaplotypehumanhuman genomemalariameningitismigrationsingle nucleotide polymorphismvirus hemorrhagic fever |
| MeSH: | AcetyltransferasesAfricaDuffy Blood-Group SystemGenome, HumanHaplotypesHemorrhagic Fevers, ViralHuman MigrationHumansMalariaMeningitisMinichromosome Maintenance Complex Component 6Polymorphism, Single NucleotideProteinsReceptors, Cell SurfaceReceptors, G-Protein-CoupledSelection, Genetic |
acyltransferase, 9012-30-0, 9054-54-0; protein, 67254-75-5;
Acetyltransferases; ALMS1 protein, human; DARC protein, human; Duffy Blood-Group System; MCM6 protein, human; Minichromosome Maintenance Complex Component 6; NAT8 protein, human; Proteins; Receptors, Cell Surface; Receptors, G-Protein-Coupled; TAS2R1 protein, human
Pereira, L.; Instituto de Investigação e Inovação em Saúde (i3S), Universidade Do Porto, Porto, Portugal;
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