The Neanderthal in Us—Neanderthal Genome Sequenced

A team of genetic researchers led by Svante Pääbo from the Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany is publishing today in the journal Science the results of their effort to sequence the genome of the extinct Neanderthal lineage. It turns out that many of us whose ancestors hail from Europe or Asia carry genes from Neanderthals. As the press release describing the study explains:

A unique scientific task lasting four years has been completed: a team of researchers led by Svante Pääbo, Director of the Department of Evolutionary Genetics at the Max Planck Institute for Evolutionary Anthropology in Leipzig, is publishing an initial version of the Neandertal genome sequence in the current
issue of the journal Science.

This is an unprecedented scientific achievement: only ten years after the decoding of the present-day Homo sapiens genome, researchers have managed to do something similar for an extinct hominid that was the closest relative of modern humans. "The comparison of these two genetic sequences enables us to find out where our genome differs from that of our closest relative," says Svante Pääbo.

The Neandertal sequence presented is based on the analysis of over one billion DNA fragments taken from several Neandertal bones found in Croatia, Russia and Spain, as well as from the original Neandertal found in Germany. From the DNA fragments present in the bones the Leipzig researchers developed ways to distinguish true Neandertal DNA from the DNA of microbes that have lived in the bones over the last 40,000 years. Enough DNA fragments were retrieved to account for over 60 percent of the entire Neandertal genome.

An initial comparison of the two sequences has brought some exciting discoveries to light. Contrary to the assumption of many researchers, it would appear that some Neandertals and early modern humans interbred.

According to the researchers' calculations, between one and four percent of the DNA of many humans living today originate from the Neandertal. "Those of us who live outside Africa carry a little Neandertal DNA in us," says Svante Pääbo. Previous tests carried out on the DNA of Neandertal mitochondria, which represents just a tiny part of the whole genome, had not found any evidence of such interbreeding or "admixture".

For the purpose of the analysis the researchers also sequenced five present day human genomes of European, Asian and African origin and compared them with the Neandertal. To their surprise they found that the Neandertal is slightly more closely related to modern humans from outside Africa than to Africans, suggesting some contribution of Neandertal DNA to the genomes of present-day non-Africans. Interestingly, Neandertals show the same relationship with all humans outside Africa, whether they are from Europe, East Asia or Melanesia. This is puzzling, as no Neandertal remains have been so far found in East Asia. They lived in Europe and Western Asia.

The researchers offer a plausible explanation for this finding. Svante Pääbo: "Neandertals probably mixed with early modern humans before Homo sapiens split into different groups in Europe and Asia." This could have occurred in the Middle East between 100,000 and 50,000 years ago before the human population spread across East Asia. It is known from archaeological findings in the Middle East that Neandertals and modern humans overlapped in time in this region.

Apart from the question as to whether Neandertals and Homo sapiens mixed, the researchers are highly interested in discovering genes that distinguish modern humans from their closest relative and may have given the modern humans certain advantages over the course of evolution.

By comparing Neandertal and modern human genomes, the scientists identified several genes that may have played an important role in modern human evolution. For example, they found genes related to cognitive functions, metabolism and the development of cranial features, the collar bone and the rib cage. However, more detailed analysis needs to be carried out to enable conclusions to be drawn on the actual influence of these genes.

I will mention that my 23andMe genotype scan indicates my maternal haplogroup is U5a2a which arose some 40,000 years ago and were among the first homo sapiens colonizers of ice age Europe.

If you're interested, go here for my column on what rights Neanderthals might claim should we ever succeed in using cloning technologies to bring them back.