Abstract
Studies of large sets of single nucleotide polymorphism (SNP) data have proven to be a powerful tool in the analysis of the genetic structure of human populations. In this work, we analyze genotyping data for 2841 SNPs in 12 sub-Saharan African populations, including a previously unsampled region of southeastern Africa (Mozambique). We show that robust results in a world-wide perspective can be obtained when analyzing only 1000 SNPs. Our main results both confirm the results of previous studies, and show new and interesting features in sub-Saharan African genetic complexity. There is a strong differentiation of Nilo-Saharans, much beyond what would be expected by geography. Hunter-gatherer populations (Khoisan and Pygmies) show a clear distinctiveness with very intrinsic Pygmy (and not only Khoisan) genetic features. Populations of the West Africa present an unexpected similarity among them, possibly the result of a population expansion. Finally, we find a strong differentiation of the southeastern Bantu population from Mozambique, which suggests an assimilation of a pre-Bantu substrate by Bantu speakers in the region.
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Acknowledgements
This research was supported by the Dirección General de Investigación, Ministerio de Ciencia y TecnologÃa, Spain (grants SAF2007-63171, BFU2007-63657) and Direcció General de Recerca, Generalitat de Catalunya (2009 SGR 1101). SNP genotyping services were provided by the Spanish ‘Centro Nacional de Genotipado’ (CEGEN; http://www.cegen.org); Bioinformatic services were kindly provided by the Genomic Diversity node, Spanish Bioinformatic Institute (http://www.inab.org). MS was supported by a PhD fellowship from the Programa de becas FPU del Ministerio de Educación y Ciencia, Spain (AP2005-3982).
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Sikora, M., Laayouni, H., Calafell, F. et al. A genomic analysis identifies a novel component in the genetic structure of sub-Saharan African populations. Eur J Hum Genet 19, 84–88 (2011). https://doi.org/10.1038/ejhg.2010.141
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DOI: https://doi.org/10.1038/ejhg.2010.141
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