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MBE Advance Access published online on April 15, 2009
Molecular Biology and Evolution, doi:10.1093/molbev/msp069
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© The Author 2009. Published by Oxford University Press on behalf of the Society for Molecular Biology and Evolution. All rights reserved. For permissions, please e-mail: journals.permissions@oxfordjournals.org

Research Article

Genetic and demographic implications of the Bantu expansion: insights from human paternal lineages

Gemma Berniell-Lee1, Francesc Calafell1,2, Elena Bosch1,2, Evelyne Heyer3, Lucas Sica4, Patrick Mouguiama-Daouda5, Lolke van der Veen6, Jean-Marie Hombert6, Lluis Quintana-Murci7 and David Comas1,2

1 Institute of Evolutionary Biology (CSIC-UPF), CEXS-UPF-PRBB, Barcelona, Catalonia, Spain
2 CIBER de Epidemiología y Salud Pública, Spain
3 Muséum National d'Histoire Naturelle – Centre National de la Recherche Scientifique-P7 Unité Mixte de Recherche 5145, Eco-Anthropologie, Musée de l'Homme, 75016 Paris, France
4 Centre International de Recherches Médicales de Franceville, BP769 Franceville, Gabon
5 Université Omar Bongo, Libreville, Gabon
6 Laboratoire Dynamique du Langage, Unité Mixte de Recherche 5596, Institut des Sciences de l'Homme, 69363 Lyon, France
7 Human Evolutionary Genetics Unit, Centre National de la Recherche Scientifique URA3012, Institut Pasteur, 75015 Paris, France

Correspondence author: David Comas, Institute of Evolutionary Biology (CSIC-UPF), CEXS-UPF-PRBB, Barcelona, Catalonia, Spain, Tel: +34 93 3160843 / Fax: +34 93 3160901 / e-mail: david.comas{at}upf.edu

Received for publication January 20, 2009. Revision received March 25, 2009. Accepted for publication March 30, 2009.

The expansion of Bantu languages, which started around 5,000 years before present (YBP) in west/central Africa and spread all throughout sub-Saharan Africa, may represent one of the major and most rapid demographic movements in the history of the human species. Although the genetic footprints of this expansion have been unmasked through the analyses of the maternally-inherited mitochondrial (mtDNA) lineages, information on the genetic impact of this massive movement and on the genetic composition of pre-Bantu populations is still scarce.

Here we analyze an extensive collection of Y-chromosome markers - 41 SNPs and 18 STRs - in 883 individuals from 22 Bantu-speaking agriculturalist populations and 3 Pygmy hunter-gatherer populations from Gabon and Cameroon. Our data reveal a recent origin for most paternal lineages in west Central African populations most likely resulting from the expansion of Bantu-speaking farmers that erased the more ancient Y-chromosome diversity found in this area. However, some traces of ancient paternal lineages are observed in these populations, mainly among hunter-gatherers. These results are at odds with those obtained from mtDNA analyses, where high frequencies of ancient maternal lineages are observed, and substantial maternal gene flow from hunter-gatherers to Bantu farmers has been suggested. These differences are most likely explained by socio-cultural factors such as patrilocality. We also find the intriguing presence of paternal lineages belonging to Eurasian haplogroup R1b1*, which might represent footprints of demographic expansions in central Africa not directly related to the Bantu expansion.

Key Words: human population genetics • genetic diversity • Y-chromosome phylogeny • Bantu expansion


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