Neanderthal genome

Genetic studies on Neanderthal ancient DNA became possible in the late 1990s. The Neanderthal genome project, established in 2006, presented the first fully sequenced Neanderthal genome in 2013.

Since 2010, evidence for substantial admixture of Neanderthals DNA in modern populations has accumulated.

The divergence time between the Neanderthal and modern human lineages is estimated at between 750,000 and 400,000 years ago. The more recent time depth has been suggested by Endicott et al. (2010) and Rieux et al. (2014) A significantly deeper time of separation, combined with repeated early admixture events, was calculated by Rogers et al. (2017).

In July 2006, the Max Planck Institute for Evolutionary Anthropology and 454 Life Sciences announced that they would sequence the Neanderthal genome over the next two years. It was hoped the comparison would expand understanding of Neanderthals, as well as the evolution of humans and human brains.

In 2008 Richard E. Green et al. from Max Planck Institute for Evolutionary Anthropology in Leipzig, Germany, published the full sequence of Neanderthal (mtDNA) and suggested "Neanderthals had a long-term effective population size smaller than that of modern humans." In the same publication, it was disclosed by Svante Pääbo that in the previous work at the Max Planck Institute, "Contamination was indeed an issue," and they eventually realised that 11% of their sample was modern human DNA. Since then, more of the preparation work has been done in clean areas and 4-base pair 'tags' have been added to the DNA as soon as it is extracted so the Neanderthal DNA can be identified.

The project first sequenced the entire genome of a Neanderthal in 2013 by extracting it from the phalanx bone of a 50,000-year-old Siberian Neanderthal.

Among the genes shown to differ between present-day humans and Neanderthals were RPTN, SPAG17, CAN15, TTF1, FOXP2 and PCD16.

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