Ancient Human With 10 Percent Neanderthal Genes Found

DNA from a man who lived 40,000 years ago in Romania reveals that up to 11 percent of his genome came from Neanderthals.

Because large segments of the individual's chromosomes are of Neanderthal origin, a Neanderthal was among the man's ancestors as recently as four generations back in his family tree, reports a study published in the latest issue of the journal Nature.

The finding reveals that some of the first members of our species who came to Europe interbred with the local Neanderthals.

Photos: Faces of Our Ancestors

To this day, individuals of European and Asian heritage retain Neanderthal DNA in their genomes, but whether or not Neanderthals went extinct or simply were absorbed into the modern human population remains a matter of definition, senior author Svante Pääbo told Discovery News.

"Some Neanderthals clearly became incorporated in modern human societies," said Pääbo, director of the Department of Evolutionary Genetics at the Max Planck Institute for Evolutionary Anthropology. "It is still unclear exactly how much of the complete Neanderthal genome exists today in people, but it seems to approach something like 40 percent."

"But, of course, the Neanderthals are clearly extinct in the sense that they do not exist as an independent, separate group since some 30,000 or 40,000 years."

David Reich from Harvard Medical School coordinated the population genetic analysis of the study, which was an international effort. At the center of the research were the remains of the man, named "Oase 1," unearthed at a cave system called Peștera cu Oase in Romania.

The researchers believe that the man derived from the same expansion out of Africa as other modern people, but was likely to have been part of an early "pioneer foray into Europe," ahead of other migrations that were to come later.

Photos: Are You Related to Neanderthals?

Under what conditions his relatives, and those of other early Neanderthal-human hybrids, interbred is a big question.

Chris Stringer, an expert on early humans at the Natural History Museum in London, posed some intriguing questions about the matings.

"Were these peaceful exchanges of partners, raids which stole women or girls, or even the adoption of orphaned babies?" he asked, adding that the answer remains a mystery.

What is clear is that the interbreeding took place at different times and locations. This particular individual, Oase 1, did not contribute much, if at all, to later modern human populations, however. Pääbo explained that whatever population he represented seems to have "disappeared," leaving behind no known tools or other artifacts.

The man's DNA does share many alleles (alternative forms of genes) with present day East Asians and Native Americans.

"There are several studies now that show East Asians and Native Americans have about 20 percent more Neanderthal contribution (in their genomes) and that this could be due to extra inbreeding in the ancestors of East Asians," Pääbo explained.

Other studies also conclude that there was likely a natural selection against a Neanderthal contribution to the Homo sapiens genome, such that even if interbreeding were very common, the evidence for that would not fully reveal itself in the genomes of modern humans of European and Asian heritage.

Humans Vs. Neanderthals: How Did We Win?

"In the case of the Neanderthal gene flow into modern humans, it is clear that much of that DNA has been lost or selected away since, but there are some examples where it may have been retained because it was advantageous to the modern groups receiving it," Stringer said, adding that he was surprised that interbreeding between Neanderthals and Homo sapiens "was still happening long after 55,000 years ago."

Milford Wolpoff, a professor in the Department of Anthropology at the University of Michigan, told Discovery News that he is one of the few paleoanthropologists who was not surprised by the new findings about Oase 1. He said the discovery is "exciting, because it fits well into the framework that is emerging to understand Neolithic Europe."

Wolpoff added that as modern humans spread into Europe from Western Asia, they interbred with the native Europeans, but because the migrating group was "quite numerous, the descendants of the earliest modern Europeans were largely swamped out."

A recreation of a Neanderthal.

Back in the Beginning

To put a human face on our ancestors, scientists from the Senckenberg Research Institute used sophisticated methods to form 27 model heads based on tiny bone fragments, teeth and skulls collected from across the globe. The heads are on display for the first time together at the Senckenberg Natural History Museum in Frankfurt, Germany. This model is Sahelanthropus tchadensis, also nicknamed "Toumai," who lived 6.8 million years ago. Parts of its jaw bone and teeth were found nine years ago in the Djurab desert in Chad. It's one of the oldest hominid specimens ever found.

Australopithecus afarensis

With each new discovery, paleoanthropologists have to rewrite the origins of man's ancestors, adding on new branches and tracking when species split. This model was fashioned from pieces of a skull and jaw found among the remains of 17 pre-humans (nine adults, three adolescents and five children) which were discovered in the Afar Region of Ethiopia in 1975. The ape-man species, Australopithecus afarensis, is believed to have lived 3.2 million years ago. Several more bones from this species have been found in Ethiopia, including the famed "Lucy," a nearly complete A. afarensis skeleton found in Hadar.

Australopithecus africanus

Meet "Mrs. Ples," the popular nickname for the most complete skull of an Australopithecus africanus, unearthed in Sterkfontein, South Africa in 1947. It is believed she lived 2.5 million years ago (although the sex of the fossil is not entirely certain). Crystals found on her skull suggest that she died after falling into a chalk pit, which was later filled with sediment. A. africanus has long puzzled scientists because of its massive jaws and teeth, but they now believe the species' skull design was optimal for cracking nuts and seeds.

Paranthropus aethiopicus

The skull of this male adult was found on the western shore of Lake Turkana in Kenya in 1985. The shape of the mouth indicates that he had a strong bite and could chew plants. He is believed to have lived in 2.5 million years ago and is classified as Paranthropus aethiopicus. Much is still unknown about this species because so few reamins of P. aethiopicus have been found.

Paranthropus boisei

Researchers shaped this skull of "Zinj," found in 1959. The adult male lived 1.8 million years ago in the Olduvai Gorge of Tanzania. His scientific name is Paranthropus boisei, though he was originally called Zinjanthropus boisei -- hence the nickname. First discovered by anthropologist Mary Leakey, the well-preserved cranium has a small brain cavity. He would have eaten seeds, plants and roots which he probably dug with sticks or bones.

Homo rudolfensis

This model of a sub-human species -- Homo rudolfensis -- was made from bone fragments found in Koobi Fora, Kenya, in 1972. The adult male is believed to have lived about 1.8 million years ago. He used stone tools and ate meat and plants. H. Rudolfensis' distinctive features include a flatter, broader face and broader postcanine teeth, with more complex crowns and roots. He is also recognized as having a larger cranium than his contemporaries.

Homo ergaster

The almost perfectly preserved skeleton of the "Turkana Boy" is one of the most spectacular discoveries in paleoanthropology. Judging from his anatomy, scientists believe this Homo ergaster was a tall youth about 13 to 15 years old. According to research, the boy died beside a shallow river delta, where he was covered by alluvial sediments. Comparing the shape of the skull and teeth, H. ergaster had a similiar head structure to the Asian Homo erectus.

Homo heidelbergensis

This adult male, Homo heidelbergensis, was discovered in in Sima de los Huesos, Spain in 1993. Judging by the skull and cranium, scientists believe he probably died from a massive infection that caused a facial deformation. The model, shown here, does not include the deformity. This species is believed to be an ancestor of Neanderthals, as seen in the shape of his face. "Miquelon," the nickname of "Atapuerca 5", lived about 500,000 to 350,000 years ago and fossils of this species have been found in Italy, France and Greece.

Homo neanderthalensis

The "Old Man of La Chapelle" was recreated from the skull and jaw of a Homo neanderthalensis male found near La Chapelle-aux-Saints, in France in 1908. He lived 56,000 years ago. His relatively old age, thought to be between 40 to 50 years old, indicates he was well looked after by a clan. The old man's skeleton indicates he suffered from a number of afflictions, including arthritis, and had numerous broken bones. Scientists at first did not realize the age and afflicted state of this specimen when he was first discovered. This led them to incorrectly theorize that male Neanderthals were hunched over when they walked.

Homo floresiensis

The skull and jaw of this female "hobbit" was found in Liang Bua, Flores, Indonesia, in 2003. She was about 1 meter tall (about 3'3") and lived about 18,000 years ago. The discovery of her species, Homo floresiensis, brought into question the belief that Homo sapiens was the only form of mankind for the past 30,000 years. Scientists are still debating whether Homo floresiensis was its own species, or merely a group of diseased modern humans. Evidence is mounting that these small beings were, in fact, a distinct human species.

Homo sapiens

Bones can only tell us so much. Experts often assume or make educated guesses to fill in the gaps in mankind's family tree, and to develop a sense what our ancestors may have looked like. Judging from skull and mandible fragments found in a cave in Israel in 1969, this young female Homo sapien lived between 100,000 and 90,000 years ago. Her bones indicate she was about 20 years old. Her shattered skull was found among the remains of 20 others in a shallow grave.