Evolution of Lactose Tolerance in Africa

Sarah Tishkoff

Most African populations have lactose intolerance, but as recently as 3 kya a few pastoral populations have gained the ability to digest milk, which provides evidence of yet another example of ongoing evolution in human population since the time of their origins.

Sarah Tishkoff has been studying this phenomenon of recent lactose tolerance in African pastoralist populations. She shared her findings on Sunday morning at #AAASmtg in Washington DC.

The ability to digest milk as infants is with the expression of lactase-phlorizine hydrolase (lactase), which is specifically expressed by brushborder cells in the small intestine.

But shortly after weaning, the expression of lactase decreases sharply -- that is, except in populations that are lactase persistent. In 2002, an elegant genetic study found the gene for lactase in European populations.

Tishkoff showed us in charts and on a map how she performed genetic studies on the African pastoralist populations with lactase tolerance. Based on the findings, she found a perfect example of convergent evolution -- that several of the populations had developed lactose tolerance in different ways genetically -- because of strong selective pressures to drink milk.

With her latest study and archeological data, she is now tracking the origins of pastoralism. She showed us a map (Smith 1992) where it's clear that most lactose tolerance emerged only in the last few thousand years, but at different times. Her research confirms that pastoralism was brought into southern Africa only recently, most likely from the Great Lakes region.

"So, are humans still evolving? Yes," Tishkoff said.

Why was milk selective pressure so strong? There has been a lot of debate, Tishkoff said, such as whether it is the source of water, protein, or calcium. But it's not everywhere, so there has to have been a cultural transformation in each region.

"There's only some environments that can handle that cultural development," Tishkoff said, but in each case, there has to be an underlying genetic variation and the different variants suggest that perhaps for some populations had a more difficult time with the change or took longer to adapt to it than others.