The 82nd Annual Meeting of the American Association of Physical Anthropologists (2013)


Natural selection acts to maintain diversity between Out of Africa and sub-Saharan African populations in genes related to neurological processes and brain development

JASON A. HODGSON1,5, ALI AL-MEERI2, CONNIE J. MULLIGAN3 and RYAN L. RAAUM4,5.

1Anthropology, New York University, 2Biochemistry and Molecular Biology, Sana'a University, Yemen, 3Anthropology, University of Florida, 4Anthropology, Lehman College and The Graduate Center CUNY, 5-, The New York Consortium in Evolutionary Primatology

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The Yemeni and Mozabite are closely related Out of Africa (OOA) populations from the Arabian Peninsula and North Africa respectively, while the Maasai are a sub-Saharan African (SSA) population. Using genome-wide SNP data (publicly available for the Mozabite and Maasai, and collected here for the Yemeni) we show the Yemeni to have ~7% and the Mozabite to have ~26% recent sub-Saharan admixture, while the Maasai have ~27% Middle Eastern admixture. We use an adaptation of the locus specific branch length method to look for the effects of natural selection on alleles introduced to the three populations through admixture. We specifically look for 1) the adaptive introgression of alleles from SSA into the Yemeni and Mozabite, 2) the adaptive introgression of alleles from OOA into the Maasai, 3) purifying selection of SSA alleles out of the Yemeni and Mozabite, and 4) purifying selection of OOA alleles out of the Maasai. We found correspondence in patterns of adaptive introgression and purifying selection between the populations for 18 genomic loci, all of which contain protein-coding genes. The correspondence in signatures of selection between three independent populations is strong evidence for natural selection, rather than the false positive signals common in genome-wide scans of selection. Strikingly, of the regions where purifying selection is acting to maintain diversity between the Out of Africa and sub-Saharan African populations, eight out of twelve genes with known ontologies are involved in neurological processes or brain development. A binomial test found this enrichment to be significant.

This research was partially supported by NSF grant BCS-0518530.

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