Evolution Diary

A convergent evolution, the ability to digest milk, was found in peoples of East Africa as recent as 3000 years ago. Convergent evolution refers to two or more populations acquiring the same trait independently.

Study Detects Recent Instance of Human Evolution

A surprisingly recent instance of human evolution has been detected among the peoples of East Africa. It is the ability to digest milk in adulthood, conferred by genetic changes that occurred as recently as 3,000 years ago, a team of geneticists has found.

The finding is a striking example of a cultural practice — the raising of dairy cattle — feeding back into the human genome. It also seems to be one of the first instances of convergent human evolution to be documented at the genetic level. Convergent evolution refers to two or more populations acquiring the same trait independently.

Throughout most of human history, the ability to digest lactose, the principal sugar of milk, has been switched off after weaning because there is no further need for the lactase enzyme that breaks the sugar apart. But when cattle were first domesticated 9,000 years ago and people later started to consume their milk as well as their meat, natural selection would have favored anyone with a mutation that kept the lactase gene switched on.

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 mutations Dr. Tishkoff detected are not in the lactase gene itself but a nearby region of the DNA that controls the activation of the gene. The finding that different ethnic groups in East Africa have different mutations is one instance of their varied evolutionary history and their exposure to many different selective pressures, Dr. Tishkoff said.

“There is a lot of genetic variation between groups in Africa, reflecting the different environments in which they live, from deserts to tropics, and their exposure to very different selective forces,” she said. 

People in different regions of the world have evolved independently since dispersing from the ancestral human population in northeast Africa 50,000 years ago, a process that has led to the emergence of different races. But much of this differentiation at the level of DNA may have led to the same physical result.

As Dr. Tishkoff has found in the case of lactose tolerance, evolution may use the different mutations available to it in each population to reach the same goal when each is subjected to the same selective pressure. “I think it’s reasonable to assume this will be a more general paradigm,” Dr. Pritchard said.

Source: New York Times