The Fulani people, one of the most important pastoralist groups in sub-Saharan Africa, are still largely underrepresented in population genomic research. They speak a Niger-Congo language called Fulfulde or Pulaar and live in scattered locations across the Sahel/Savannah belt, from the Atlantic Ocean to Lake Chad. According to historical records, their ancestors spread from Futa Toro in the Middle Senegal Valley to Futa-Jallon in Guinea and then eastward into the Sahel belt over the past 1,500 years. However, the earlier history of this traditionally pastoral population has not been well studied. To uncover the genetic structure and ancestry of this widespread population, we gathered genome-wide genotype data from 460 individuals across 18 local Fulani populations, along with comparative data from both modern and ancient worldwide populations. This represents a comprehensive geographically wide-scaled genome-wide study of the Fulani. We revealed a genetic component closely associated with all local Fulani populations, suggesting a shared ancestral component possibly linked to the beginning of African pastoralism in the Green Sahara. Comparison to ancient DNA results also identified the presence of an ancient Iberomaurusian-associated component across all Fulani groups, providing additional insights into their deep genetic history. Additionally, our genetic data indicate a later Fulani expansion from the western to the eastern Sahel, characterized by a clinal pattern and admixture with several other African populations north of the equator.

• Keywords
• Africa, Fulani, Sahel, admixture, ancient DNA, genomics, migration, population structure,
• MeSH
• Black People * genetics   MeSH
• Ethnicity genetics   MeSH
• Genetic Variation MeSH
• Genome, Human MeSH
• Humans MeSH
• Genetics, Population * MeSH
• Central African People MeSH
• East African People MeSH
• West African People MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Geographicals
• Africa South of the Sahara MeSH

African history has been significantly influenced by the Sahara, which has represented a barrier for migrations of all living beings, including humans. Major exceptions were the gene flow events that took place between North African and sub-Saharan populations during the so-called African Humid Periods, especially in the Early Holocene (11.5 to 5.5 thousand years ago), and more recently in connection with trans-Saharan commercial routes. In this study, we describe mitochondrial DNA (mtDNA) diversity of human populations from both sides of the Sahara Desert, i.e., both from North Africa and the Sahel/Savannah belt. The final dataset of 7213 mtDNA sequences from 134 African populations encompasses 470 newly collected and 6743 previously published samples, which were analyzed using descriptive methods and Bayesian statistics. We completely sequenced 26 mtDNAs from sub-Saharan samples belonging to the Eurasian haplogroup N1. Analyses of these N1 mitogenomes revealed their possible routes to the Sahel, mostly via Bab el-Mandab. Our results indicate that maternal gene flow must have been important in this circum-Saharan space, not only within North Africa and the Sahel/Savannah belt but also between these two regions.

• Keywords
• North Africa, Sahel/Savannah belt, mtDNA diversity, population history,
• MeSH
• Bayes Theorem MeSH
• Black People * MeSH
• Humans MeSH
• DNA, Mitochondrial * genetics   MeSH
• Gene Flow MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Geographicals
• Africa, Northern MeSH
• Names of Substances
• DNA, Mitochondrial * MeSH

BACKGROUND: Dietary changes associated to shifts in subsistence strategies during human evolution may have induced new selective pressures on phenotypes, as currently held for lactase persistence. Similar hypotheses exist for arylamine N-acetyltransferase 2 (NAT2) mediated acetylation capacity, a well-known pharmacogenetic trait with wide inter-individual variation explained by polymorphisms in the NAT2 gene. The environmental causative factor (if any) driving its evolution is as yet unknown, but significant differences in prevalence of acetylation phenotypes are found between hunter-gatherer and food-producing populations, both in sub-Saharan Africa and worldwide, and between agriculturalists and pastoralists in Central Asia. These two subsistence strategies also prevail among sympatric populations of the African Sahel, but knowledge on NAT2 variation among African pastoral nomads was up to now very scarce. Here we addressed the hypothesis of different selective pressures associated to the agriculturalist or pastoralist lifestyles having acted on the evolution of NAT2 by sequencing the gene in 287 individuals from five pastoralist and one agriculturalist Sahelian populations. RESULTS: We show that the significant NAT2 genetic structure of African populations is mainly due to frequency differences of three major haplotypes, two of which are categorized as decreased function alleles (NAT2*5B and NAT2*6A), particularly common in populations living in arid environments, and one fast allele (NAT2*12A), more frequently detected in populations living in tropical humid environments. This genetic structure does associate more strongly with a classification of populations according to ecoregions than to subsistence strategies, mainly because most Sahelian and East African populations display little to no genetic differentiation between them, although both regions hold nomadic or semi-nomadic pastoralist and sedentary agriculturalist communities. Furthermore, we found significantly higher predicted proportions of slow acetylators in pastoralists than in agriculturalists, but also among food-producing populations living in the Sahelian and dry savanna zones than in those living in humid environments, irrespective of their mode of subsistence. CONCLUSION: Our results suggest a possible independent influence of both the dietary habits associated with subsistence modes and the chemical environment associated with climatic zones and biomes on the evolution of NAT2 diversity in sub-Saharan African populations.

• MeSH
• Acetylation MeSH
• Arylamine N-Acetyltransferase genetics   MeSH
• Black People MeSH
• Haplotypes MeSH
• Genetics, Medical MeSH
• Humans MeSH
• Molecular Biology * MeSH
• Polymorphism, Genetic MeSH
• Genetics, Population * MeSH
• Food MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Geographicals
• Africa South of the Sahara MeSH
• Names of Substances
• Arylamine N-Acetyltransferase MeSH
• NAT2 protein, human MeSH Browser

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 a main corridor for human 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/MCM6 region 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).

• Keywords
• Sahel, admixture, genome-wide diversity, selection,
• MeSH
• Acetyltransferases genetics   MeSH
• Genome, Human * MeSH
• Haplotypes MeSH
• Hemorrhagic Fevers, Viral genetics   MeSH
• Polymorphism, Single Nucleotide MeSH
• Duffy Blood-Group System genetics   MeSH
• Humans MeSH
• Malaria genetics   MeSH
• Minichromosome Maintenance Complex Component 6 genetics   MeSH
• Meningitis genetics   MeSH
• Human Migration * MeSH
• Cell Cycle Proteins MeSH
• Proteins genetics   MeSH
• Receptors, Cell Surface genetics   MeSH
• Receptors, G-Protein-Coupled genetics   MeSH
• Selection, Genetic * MeSH
• Check Tag
• Humans MeSH
• Publication type
• Journal Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Geographicals
• Africa MeSH
• Names of Substances
• Acetyltransferases MeSH
• ACKR1 protein, human MeSH Browser
• ALMS1 protein, human MeSH Browser
• Duffy Blood-Group System MeSH
• Minichromosome Maintenance Complex Component 6 MeSH
• MCM6 protein, human MeSH Browser
• NAT8 protein, human MeSH Browser
• Cell Cycle Proteins MeSH
• Proteins MeSH
• Receptors, Cell Surface MeSH
• Receptors, G-Protein-Coupled MeSH
• TAS2R1 protein, human MeSH Browser

Mitochondrial DNA (mtDNA) haplogroup L2 originated in Western Africa but is nowadays spread across the entire continent. L2 movements were previously postulated to be related to the Bantu expansion, but L2 expansions eastwards probably occurred much earlier. By reconstructing the phylogeny of L2 (44 new complete sequences) we provide insights on the complex net of within-African migrations in the last 60 thousand years (ka). Results show that lineages in Southern Africa cluster with Western/Central African lineages at a recent time scale, whereas, eastern lineages seem to be substantially more ancient. Three moments of expansion from a Central African source are associated to L2: (1) one migration at 70-50 ka into Eastern or Southern Africa, (2) postglacial movements (15-10 ka) into Eastern Africa; and (3) the southward Bantu Expansion in the last 5 ka. The complementary population and L0a phylogeography analyses indicate no strong evidence of mtDNA gene flow between eastern and southern populations during the later movement, suggesting low admixture between Eastern African populations and the Bantu migrants. This implies that, at least in the early stages, the Bantu expansion was mainly a demic diffusion with little incorporation of local populations.

• MeSH
• Black People genetics   history   MeSH
• History, 15th Century MeSH
• History, 16th Century MeSH
• History, 17th Century MeSH
• History, 18th Century MeSH
• History, 19th Century MeSH
• History, 20th Century MeSH
• History, 21st Century MeSH
• History, Medieval MeSH
• Emigration and Immigration history   MeSH
• Haplotypes genetics   MeSH
• Polymorphism, Single Nucleotide genetics   MeSH
• Humans MeSH
• DNA, Mitochondrial genetics   history   MeSH
• Evolution, Molecular MeSH
• Molecular Sequence Data MeSH
• Base Sequence MeSH
• Check Tag
• History, 15th Century MeSH
• History, 16th Century MeSH
• History, 17th Century MeSH
• History, 18th Century MeSH
• History, 19th Century MeSH
• History, 20th Century MeSH
• History, 21st Century MeSH
• History, Medieval MeSH
• Humans MeSH
• Publication type
• Journal Article MeSH
• Historical Article MeSH
• Research Support, Non-U.S. Gov't MeSH
• Geographicals
• Africa, Central MeSH
• Africa, Eastern MeSH
• Names of Substances
• DNA, Mitochondrial MeSH