Human evolution and lactose tolerance among the peoples of East Africa

Nicholas Wade:

Such a mutation is known to have arisen among an early cattle-raising people, the Funnel Beaker culture, which flourished some 5,000 to 6,000 years ago in north-central Europe. People with a persistently active lactase gene have no problem digesting milk and are said to be lactose tolerant.

Almost all Dutch people and 99 percent of Swedes are lactose-tolerant, but the mutation becomes progressively less common in Europeans who live at increasing distance from the ancient Funnel Beaker region.

Geneticists wondered if the lactose tolerance mutation in Europeans, first identified in 2002, had arisen among pastoral peoples elsewhere. But it seemed to be largely absent from Africa, even though pastoral peoples there generally have some degree of tolerance.

A research team led by Sarah Tishkoff of the University of Maryland has now resolved much of the puzzle. After testing for lactose tolerance and genetic makeup among 43 ethnic groups of East Africa, she and her colleagues have found three new mutations, all independent of each other and of the European mutation, which keep the lactase gene permanently switched on.

The principal mutation, found among Nilo-Saharan-speaking ethnic groups of Kenya and Tanzania, arose 2,700 to 6,800 years ago, according to genetic estimates, Dr. Tishkoff’s group is to report in the journal Nature Genetics on Monday. This fits well with archaeological evidence suggesting that pastoral peoples from the north reached northern Kenya about 4,500 years ago and southern Kenya and Tanzania 3,300 years ago.

Two other mutations were found, among the Beja people of northeastern Sudan and tribes of the same language family, Afro-Asiatic, in northern Kenya.

Genetic evidence shows that the mutations conferred an enormous selective advantage on their owners, enabling them to leave almost 10 times as many descendants as people without them. The mutations have created “one of the strongest genetic signatures of natural selection yet reported in humans,” the researchers write.

The survival advantage was so powerful perhaps because those with the mutations not only gained extra energy from lactose but also, in drought conditions, would have benefited from the water in milk. People who were lactose-intolerant could have risked losing water from diarrhea, Dr. Tishkoff said.

Diane Gifford-Gonzalez, an archaeologist at the University of California, Santa Cruz, said the new findings were “very exciting” because they “showed the speed with which a genetic mutation can be favored under conditions of strong natural selection, demonstrating the possible rate of evolutionary change in humans.”

Convergent evolution in humans: lactose tolerance

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