Thousands of years ago humans moved for the first time into the Tibetan plateau, a vast expanse of steppelands that towers some 14,000 feet above sea level. Although these trailblazers would have had the benefit of entering a new ecosystem free of competition with other people, the low oxygen levels at that altitude would have placed severe stresses on the body, resulting in chronic altitude sickness and high infant mortality. Earlier this year a flurry of genetic studies identified a gene variant that is common in Tibetans but rare in other populations. This variant, which adjusts red blood cell production in Tibetans, helps to explain how Tibetans adapted to those harsh conditions. The discovery, which made headlines around the world, provided a dramatic example of how humans have undergone rapid biological adaptation to new environmental circumstances in the recent past. One study estimated that the beneficial variant spread to high frequency within the past 3,000 years—a mere instant in evolutionary terms.
The Tibet findings seemed to bolster the notion that our species has undergone considerable biological adaptation of this sort since it first left Africa perhaps 60,000 years ago (estimates range from 50,000 to 100,000 years ago). The transition to high altitude is just one of many environmental challenges Homo sapiens encountered as it migrated from the hot grasslands and shrublands of East Africa to frigid tundras, steamy rain forests and sun-baked deserts—practically every terrestrial ecosystem and climate zone on the planet. To be sure, much of human adaptation was technological—to combat the cold, for instance, we made clothing. But prehistoric technology alone could not have been enough to overcome thin mountain air, the ravages of infectious disease and other environmental obstacles. In these circumstances, adaptation would have to occur by genetic evolution rather than through technological solutions. It was reasonable to expect, then, that surveys of our genomes would reveal considerable evidence of novel genetic mutations that have spread recently throughout different populations by natural selection—that is, because those who carry the mutations have more healthy babies who survive to reproduce than those who do not.