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Complete Neanderthal genome sequenced: DNA signatures found in present-day Europeans and Asians, but not in Africans
Date:
May 6, 2010
Source:
NIH/National Human Genome Research Institute
Summary:
Researchers have produced the first whole genome sequence of the 3 billion letters in the Neanderthal genome, and the initial analysis suggests that up to 2 percent of the DNA in the genome of present-day humans outside of Africa originated in Neanderthals or in Neanderthals' ancestor

The Neanderthal genome project is an effort of a group of scientists to sequence the Neanderthal genome.

It is coordinated by the Max Planck Institute for Evolutionary Anthropology in Germany, and was initiated by 454 Life Sciences, a biotechnology company based in Branford, Connecticut in the United States. Founded in July 2006, the project published their results in the May 2010 journal Science detailing an initial draft of the Neanderthal genome based on the analysis of four billion base pairs of Neanderthal DNA. The study determined that some mixture of genes occurred between Neanderthals and anatomically modern humans and presented evidence that elements of their genome remain in that of modern humans outside Africa.[1][2][3]

In December 2013, scientists reported, for the first time, a high coverage genome of a Neanderthal. The genome was extracted from the bone fragment of a Neanderthal female from around 50,000-100,000 years ago, found in a cave in the Altai mountains of Siberia.[4][5]

Neandertal genome yields evidence of interbreeding with humans
After years of looking, geneticists are shocked to find a link
BY TINA HESMAN SAEY 2:48PM, MAY 6, 2010
Magazine issue: Vol. 177 #12, June 5, 2010, p. 5

Some people don’t just have a caveman mentality; they may actually carry a little relic of the Stone Age in their DNA.

SURPRISING CONNECTION These three fragments of Neandertal bones yielded the first DNA evidence of human-Neandertal interbreeding.
MAX-PLANCK-INSTITUTE EVA

DISTANT RELATIVES People of European and Asian ancestry (woman, left) inherited roughly 1 to 4 percent of their DNA from Neandertals (reconstruction, right), genetic work suggests.

COPYRIGHT JOE MCNALLY/RECONSTRUCTION BY KENNIS AND KENNIS

A new study of the Neandertal genome shows that humans and Neandertals interbred. The discovery comes as a big surprise to researchers who have been searching for genetic evidence of human-Neandertal interbreeding for years and finding none.

About 1 percent to 4 percent of DNA in modern people from Europe and Asia was inherited from Neandertals, researchers report in the May 7 Science. “It’s a small, but very real proportion of our ancestry,” says study coauthor David Reich of the Broad Institute of MIT and Harvard in Cambridge, Mass. Comparisons of the human and Neandertal genomes are also revealing how humans evolved to become the sole living hominid species on the planet.

Neandertals lived in Europe, the Middle East and western Asia until they disappeared about 30,000 years ago. The new data indicate that humans may not have replaced Neandertals, but assimilated them into the human gene pool.

“Neandertals are not totally extinct; they live on in some of us,” says Svante Pääbo of the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany, and leader of the Neandertal genome project.

He and other geneticists involved in the effort to compile the complete genetic instruction book of Neandertals didn’t expect to find that Neandertals had left a genetic legacy. Earlier analyses that looked at only a small part of the genome had contradicted the notion that humans and Neandertals intermixed (SN Online: 8/7/08).

“We as a consortium came into this with a very, very strong bias against gene flow,” Reich says. In fact, when he and his colleagues announced the completion of a rough draft of the Neandertal genome a year ago, the researchers said such genetic exchange was unlikely (SN: 3/14/09, p. 5).

But several independent lines of evidence now convince the researchers that humans and Neandertals did interbreed. “The breakthrough here is to show that it could happen and it did happen,” Pääbo says.

The result came as no surprise to some scientists, however. Archaeologists have described ancient skeletons from Europe that had characteristics of both early modern humans and Neandertals; evidence, the researchers say, of interbreeding between the two groups. But until the cataloging of the entire Neanderthal genome, genetic studies could find no evidence to support the idea.

“After all these years the geneticists are coming to the same conclusions that some of us in the field of archaeology and human paleontology have had for a long time,” says João Zilhão, an archaeologist and paleoanthropologist at the University of Bristol in England. “What can I say? If the geneticists come to this same conclusion, that’s to be expected.”

Researchers re-created the Neandertal’s genetic blueprints using DNA extracted from three bone fragments — each from a different Neandertal woman — found in a cave in Croatia.

Comparing the resulting blueprints of the female Neandertals, who lived about 40,000 years ago, with those of five present-day humans from China, France, Papua New Guinea and southern and western Africa, revealed that people outside of Africa carry Neandertal DNA.

Neanderthal Genome Published By German Scientists, Called First High-Quality DNA Map Of Species
03/19/2013 02:14 pm ET | Updated May 19, 2013
497
FRANK JORDANS
BERLIN — Researchers in Germany said Tuesday they have completed the first high-quality sequencing of a Neanderthal genome and are making it freely available online for other scientists to study.

The genome produced from remains of a toe bone found in a Siberian cave is far more detailed than a previous "draft" Neanderthal genome sequenced three years ago by the same team at the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany.

"The genome of a Neanderthal is now there in a form as accurate as that of any person walking the streets today," Svante Paabo, a geneticist who led the research, told The Associated Press in an email.

Richard G. Klein, a paleoanthropologist at Stanford University in California who was not involved in the study, said it was "a monumental achievement that no one would have thought possible 10 or perhaps even five years ago."

in a form as accurate as that of any person walking the streets today,