For the first time scientists have deciphered the genetic sequence of the Neanderthal genome. It is the first genetic blueprint of an extinct human species and a tour de force in terms of the scientific techniques used to recover tiny strands of ancient DNA from fragments of fossilised bones tens of thousand of years old.
Although scientists are far from answering the many questions about the last of our relatives known to live alongside modern humans, they believe that the research is close to finding out what it is, genetically, that made us human.
Prof Svante Paabo of the Max Planck Institute for Evolutionary Anthropology in Leipzig was to reveal at the American Association for the Advancement of Science in Chicago this weekend that he and his colleagues had deciphered 60 percent of the Neanderthal genome and used it to calculate that the last common, ape-like ancestor of modern man and the Neanderthals lived about 830 000 years ago.
The project took more than two-and-a-half years of research on dozens of Neanderthal bones from 40 000-70 000 years old and excavated from four archaeological sites in Europe, stretching from southern Russia and Croatia to Germany and Spain.
They extracted enough DNA from an analysis of 70 fossilised bones to build up a library of Neanderthal DNA covering 3.7 billion "base pairs" - the individual letters of the genetic code - and in the process discovered that the extinct humans were very closely related to modern people.
"The Neanderthals are so closely related to us that they fall into our genetic variation," Paabo said. In other words, it would be difficult to distinguish Neanderthal DNA from the DNA of a modern European, Asian or African.
The last Neanderthals died out about 30 000 years after sharing the same European landscape with modern humans for many thousands of years.
It has been an enduring mystery as to why they disappeared and whether they ever interbred with their close human cousins - although the latest evidence from the DNA suggests they did not.
"What we have looked at, from the point of view of variation today, is the contribution from Neanderthals to the human gene pool. That was very little, if anything. Our data shows that, if there was a contribution, it was very small," Paabo said.
"But the cool thing is that interbreeding was a two-way street. For the first time we can look at whether there was a contribution from human ancestors to Neanderthals because, for the first time, we have a Neanderthal genome," he said.
Another question is whether Neanderthals could speak.
Although they are known to have a hyoid bone in the throat, which is anatomically important for articulating words, the only other evidence comes from an analysis of a gene called FOXP2, which is known to be critical to speech development in modern humans.
Paabo said that the Neanderthal FOXP2 gene shares two changes to its DNA sequence that is also seen in modern humans but not in chimpanzees. These two changes support the view that Neanderthals may have been able to communicate verbally.
Other insights gained from a preliminary analysis of the Neanderthal genome are that the species could not drink milk as adults - they have the same lactose intolerance seen in the majority of modern humans - and they also have a mutation in the gene involved in brain development seen in modern-day Africans.
- This article was originally published on page 12 of The Sunday Tribune on February 15, 2009
















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