http://news.bbc.co.uk/2/hi/science/nature/8660940.stm

BBC NEWS
Neanderthal genes 'survive in us'

By Paul Rincon
Science reporter, BBC News

Many people alive today possess some Neanderthal ancestry, according to a 
landmark scientific study.

The finding has surprised many experts, as previous genetic evidence suggested 
the Neanderthals made little or no contribution to our inheritance.

The result comes from analysis of the Neanderthal genome - the "instruction 
manual" describing how these ancient humans were put together.

Between 1% and 4% of the Eurasian human genome seems to come from Neanderthals.

But the study confirms living humans overwhelmingly trace their ancestry to a 
small population of Africans who later spread out across the world.
" [Neanderthals] are not totally extinct, in some of us they live on - a little 
bit "
Professor Svante Paabo Max Planck Institute for Evolutionary Anthropology

The most widely-accepted theory of modern human origins - known as Out of 
Africa - holds that the ancestors of living humans ( Homo sapiens ) originated 
in Africa some 200,000 years ago.

A relatively small group of people then left the continent to populate the rest 
of the world between 50,000 and 60,000 years ago.

While the Neanderthal genetic contribution - found in people from Europe, Asia 
and Oceania - appears to be small, this figure is higher than previous genetic 
analyses have suggested.

"They are not totally extinct. In some of us they live on, a little bit," said 
Professor Svante Paabo, from the Max Planck Institute for Evolutionary 
Anthropology in Leipzig, Germany.

Professor Chris Stringer, research leader in human origins at London's Natural 
History Museum, is one of the architects of the Out of Africa theory. He told 
BBC News: "In some ways [the study] confirms what we already knew, in that the 
Neanderthals look like a separate line.

"But, of course, the really surprising thing for many of us is the implication 
that there has been some interbreeding between Neanderthals and modern humans 
in the past."

John Hawks, assistant professor of anthropology at the University of 
Wisconsin-Madison in the US, told BBC News: "They're us. We're them.

"It seemed like it was likely to be possible, but I am surprised by the amount. 
I really was not expecting it to be as high as 4%," he said of the genetic 
contribution from Neanderthals.

The sequencing of the Neanderthal genome is a landmark scientific achievement, 
the product of a four-year-long effort led from Germany's Max Planck Institute 
but involving many other universities around the world.

The project makes use of efficient "high-throughput" technology which allows 
many genetic sequences to be processed at the same time.

The draft Neanderthal sequence contains DNA extracted from the bones of three 
different Neanderthals found at Vindija Cave in Croatia.

Retrieving good quality genetic material from remains tens of thousands of 
years old presented many hurdles which had to be overcome.

The samples almost always contained only a small amount of Neanderthal DNA amid 
vast quantities of DNA from bacteria and fungi that colonised the remains after 
death.

The Neanderthal DNA itself had broken down into very short segments and had 
changed chemically. Luckily, the chemical changes were of a predictable nature, 
allowing the researchers to write software that corrected for them.

Writing in Science journal, the researchers describe how they compared this 
draft sequence with the genomes of modern people from around the globe.

"The comparison of these two genetic sequences enables us to find out where our 
genome differs from that of our closest relative," said Professor Paabo.
" Those things that made the Neanderthals apparent to us as a population - 
those things didn't work "
Dr John Hawks University of Wisconsin-Madison

The results show that the genomes of non-Africans (from Europe, China and New 
Guinea) are closer to the Neanderthal sequence than are those from Africa.

The most likely explanation, say the researchers, is that there was limited 
mating, or "gene flow", between Neanderthals and the ancestors of present-day 
Eurasians.

This must have taken place just as people were leaving Africa, while they were 
still part of one pioneering population. This mixing could have taken place 
either in North Africa, the Levant or the Arabian Peninsula, say the 
researchers.

Professor Stringer added: "Any functional significance of these shared genes 
remains to be determined, but that will certainly be a focus for the next 
stages of this fascinating research."

The Out of Africa theory contends that modern humans replaced local "archaic" 
populations like the Neanderthals.

But there are several variations on this idea. The most conservative model 
proposes that this replacement took place with no interbreeding between modern 
humans and Neanderthals.

Unique features

Another version allows for a degree of assimilation, or absorption, of other 
human types into the Homo sapiens gene pool.

The latest research strongly supports the Out of Africa theory, but it 
falsifies the most conservative version of events.

The team identified more than 70 gene changes that were unique to modern 
humans. These genes are implicated in physiology, the development of the brain, 
skin and bone.

The researchers also looked for signs of "selective sweeps" - strong natural 
selection acting to boost traits in modern humans. They found 212 regions where 
positive selection may have been taking place.

The scientists are interested in discovering genes that distinguish modern 
humans from Neanderthals because they may have given our evolutionary line 
certain advantages over the course of evolution.

The most obvious differences were in physique: the muscular, stocky frames of 
Neanderthals contrast sharply with those of our ancestors. But it is likely 
there were also more subtle differences, in behaviour, for example.

Dr Hawks commented that the amount of Neanderthal DNA in our genomes seemed 
high: "What it means is that any traits [Neanderthals] had that might have been 
useful in later populations should still be here.

"So when we see that their anatomies are gone, this isn't just chance. Those 
things that made the Neanderthals apparent to us as a population - those things 
didn't work. They're gone because they didn't work in the context of our 
population."

Researchers had previously thought Europe was the region where Neanderthals and 
modern humans were most likely to have exchanged genes. The two human types 
overlapped here for some 10,000 years.

The authors of the paper in Science do not rule out some interbreeding in 
Europe, but say it was not possible to detect this with present scientific 
methods.

[email protected]
Story from BBC NEWS:
http://news.bbc.co.uk/go/pr/fr/-/2/hi/science/nature/8660940.stm

Published: 2010/05/06 18:02:55 GMT

© BBC 2011




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