Neanderthals mated with some modern humans after all and left their imprint in the human genome, a team of biologists has reported in the first detailed analysis of the Neanderthal genetic sequence.
The biologists, led by Svante Paabo of the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany, have been slowly reconstructing the genome of Neanderthals, the stocky hunters that dominated Europe until 30,000 years ago, by extracting the fragments of DNA that still exist in their fossil bones.
Scientists say they have recovered 60 percent of the genome so far and hope to complete it. By comparing that genome with those of various present day humans, the team concluded that about 1 percent to 4 percent of the genome of non-Africans today is derived from Neanderthals. But the Neanderthal DNA does not seem to have played a great role in human evolution, they said.
Experts believe that the Neanderthal genome sequence will be of extraordinary importance in understanding human evolutionary history since the two species split some 600,000 years ago.
So far, the team has identified only about 100 genes — surprisingly few — that have contributed to the evolution of modern humans since the split. The nature of the genes in humans that differ from those of Neanderthals is of particular interest because they bear on what it means to be human, or at least not Neanderthal. Some of the genes seem to be involved in cognitive function and others in bone structure.
A degree of interbreeding between modern humans and Neanderthals in Europe would not be greatly surprising given that the species overlapped there from 44,000 years ago when modern humans first entered Europe to 30,000 years ago when the last Neanderthals fell extinct. Archaeologists have been debating for years whether the fossil record shows evidence of individuals with mixed features.
But the new analysis, which is based solely on genetics and statistical calculations, is more difficult to match with the archaeological record. The Leipzig scientists assert that the interbreeding did not occur in Europe but in the Middle East and at a much earlier period, some 100,000 to 60,000 years ago, before the modern human populations of Europe and East Asia split. There is much less archaeological evidence for an overlap between modern humans and Neanderthals at this time and place.
Dr. Paabo has pioneered the extraction and analysis of ancient DNA from fossil bones, overcoming daunting obstacles over the last 13 years in his pursuit of the Neanderthal genome. Perhaps the most serious is that most Neanderthal bones are extensively contaminated with modern human DNA, which is highly similar to Neanderthal DNA. The DNA he has analyzed comes from three small bones from the Vindija cave in Croatia.