Malaria claims hundreds of thousands of lives each year—mainly children, and especially in Africa. It is one of the leading causes of death by an infectious agent, the Plasmodium falciparum parasite. In research on malaria, the genetic mutation that causes sickle cell anemia (also known as drepanocytosis), a chronic disease that is often fatal in children under five, caught the attention of the scientific community very early on because it also provides protection against malaria.
After carrying out extensive research into the βS mutation by performing full sequencing of the HBB gene, together with a large-scale genomic study on 479 individuals from 13 populations from sub-Saharan Africa, scientists from the Institut Pasteur and the CNRS were able to reveal that malaria emerged in Africa at least 20,000 years ago—and not at the same time as the adoption of agriculture 4,000 to 5,000 years ago. The findings will be published in the American Journal of Human Genetics on February 28, 2019.
Individuals carrying the βS mutation in the HBB gene who do not develop sickle-cell anemia—healthy carriers—demonstrate increased resistance to malaria infection. This evolutionary paradox, first revealed in the early 1950s—a mutation that is by definition harmful but promotes the survival of some individuals -, means that βS can be seen both as an emblematic example of natural selection in humans and above all as an ideal marker for malaria research, since the date of emergence of βS corresponds with the minimum date for the emergence of malaria.
Research carried out in recent decades suggests that the date of emergence of βS, and therefore also malaria, coincides with the dates on which agriculture is known to have been adopted as the main means of livelihood in Central Africa around 4,000 to 5,000 years ago. The scientific community had long accepted the existence of a causal link between the emergence of agriculture and the spread of malaria in Africa. But nothing was known about the history of malaria in African populations that did not adopt agriculture.
Drawing on new genetic data obtained by scientists from the Human Evolutionary Genetics Unit at the Institut Pasteur, a study carried out by Institut Pasteur and CNRS scientists Guillaume Laval and Lluis Quintana-Murci, in close collaboration with the Max Planck Institute in Leipzig, Germany, and the IRD, has cast doubt on the role of agriculture in the emergence of malaria in Africa. The results of this collaborative scientific research, based on a novel formalization of the specific natural selection method generally accepted in the case of βS, show that this mutation emerged around 20,000 years ago. These new findings therefore indicate that malaria was rife well before the adoption of agriculture—contradicting widely held interpretations.
The research also shows that the βS mutation emerged more recently, approximately 4,000 years ago, in hunter-gatherer populations.
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