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Mol. Biol. Evol. 21(9):1673-1682. 2004
DOI: 10.1093/molbev/msh186
© 2004 by the Society for Molecular Biology and Evolution. ISSN: 0737-4038

Variation of Female and Male Lineages in Sub-Saharan Populations: the Importance of Sociocultural Factors

Giovanni Destro-Bisol*, Francesco Donati*, Valentina Coia*, Ilaria Boschi{dagger}, Fabio Verginelli{ddagger}, Alessandra Caglià{dagger}, Sergio Tofanelli§, Gabriella Spedini* and Cristian Capelli{dagger}

* Department of Animal and Human Biology, University "La Sapienza," Rome, Italy
{dagger} Institute of Legal Medicine, Catholic University, Rome, Italy
{ddagger} Department of Oncology and Neurosciences and Center for Research and Training on Cancer in Sub-Saharan Africa, University G.d'Annunzio, Chieti, Italy
§ Department of Ethology, Ecology and Evolution, University of Pisa, Italy

E-mail: destrobisol{at}uniroma1.it.

In this paper, we present a study of genetic variation in sub-Saharan Africa, which is based on published and unpublished data on fast-evolving (hypervariable region 1 of mitochondrial DNA and six microsatellites of Y chromosome) and slow-evolving (haplogroup frequencies) polymorphisms of mtDNA and Y chromosome. Our study reveals a striking difference in the genetic structure of food-producer (Bantu and Sudanic speakers) and hunter-gatherer populations (Pygmies, !Kung, and Hadza). In fact, the ratio of mtDNA to Y-chromosome N{upsilon} is substantially higher in food producers than in hunter-gatherers as determined by fast-evolving polymorphisms (1.76 versus 0.11). This finding indicates that the two population groups differ substantially in female and male migration rate and/or effective size. The difference also persists when linguistically homogeneous populations are used and outlier populations are eliminated (1.78 vs 0.19) or when the jacknife procedure is applied to a paired population data set (1.32 to 7.84 versus 0.14 to 0.66). The higher ratio of mtDNA to Y-chromosome N{nu} in food producers than in hunter-gatherers is further confirmed by the use of slow-evolving polymorphisms (1.59 to 7.91 versus 0.12 to 0.35). To explain these results, we propose a model that integrates demographic and genetic aspects and incorporates ethnographic knowledge. In such a model, the asymmetric gene flow, polyginy, and patrilocality play an important role in differentiating the genetic structure of sub-Saharan populations. The existence of an asymmetric gene flow is supported by the phylogeographic features of mtDNA and Y-chromosome haplogroups found in the two population groups. The role of polyginy and patrilocality is sustained by the evidence of a differential pressure of genetic drift and gene flow on maternal and paternal lineages of food producers and hunter-gatherers that is revealed through the analysis of mitochondrial and Y-chromosomal intrapopulational variation.

Key Words: sub-Saharan Africa • food producers • hunter-gatherers • mtDNA • Y chromosome • sociocultural factors


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