Neanderthal Genome Yields Insights Into Human Evolution and Evidence of Interbreeding With Modern Humans

ARTICLES: After extracting ancient DNA from the 40,000-year-old bones of Neanderthals, scientists have obtained a draft sequence of the Neanderthal genome, yielding important new insights into the evolution of modern humans.

Among the findings, published in the May 7 issue of Science, is evidence that shortly after early modern humans migrated out of Africa, some of them interbred with Neanderthals, leaving bits of Neanderthal DNA sequences scattered through the genomes of present-day non-Africans.

"We can now say that, in all probability, there was gene flow from Neanderthals to modern humans," said the paper's first author, Richard E. (Ed) Green of the University of California, Santa Cruz.

Richard E. (Ed) Green, a computational biologist in the Baskin School of Engineering at UC Santa Cruz, has been coordinating the Neanderthal Genome Project since 2005. In this photo he is holding replicas of the bones from which Neanderthal DNA was extracted for genome sequencing and a Neanderthal skull. (Credit: Photo by Jim MacKenzie)

The researchers identified a catalog of genetic features unique to modern humans by comparing the Neanderthal, human, and chimpanzee genomes. Genes involved in cognitive development, skull structure, energy metabolism, and skin morphology and physiology are among those highlighted in the study as likely to have undergone important changes in recent human evolution.

"With this paper, we are just scratching the surface," Green said. "The Neanderthal genome is a goldmine of information about recent human evolution, and it will be put to use for years to come."

Neanderthals lived in much of Europe and western Asia before dying out 30,000 years ago. They coexisted with humans in Europe for thousands of years, and fossil evidence led some scientists to speculate that interbreeding may have occurred there. But the Neanderthal DNA signal shows up not only in the genomes of Europeans, but also in people from East Asia and Papua New Guinea, where Neanderthals never lived.

"The scenario is not what most people had envisioned," Green said. "We found the genetic signal of Neanderthals in all the non-African genomes, meaning that the admixture occurred early on, probably in the Middle East, and is shared with all descendants of the early humans who migrated out of Africa."

The study did not address the functional significance of the finding that between 1 and 4 percent of the genomes of non-Africans is derived from Neanderthals. But Green said there is no evidence that anything genetically important came over from Neanderthals. "The signal is sparsely distributed across the genome, just a 'bread crumbs' clue of what happened in the past," he said. "If there was something that conferred a fitness advantage, we probably would have found it already by comparing human genomes."

The draft sequence of the Neanderthal genome is composed of more than 3 billion nucleotides--the "letters" of the genetic code (A, C, T, and G) that are strung together in DNA. The sequence was derived from DNA extracted from three Neanderthal bones found in the Vindiga Cave in Croatia; smaller amounts of sequence data were also obtained from three bones from other sites. Two of the Vindiga bones could be dated by carbon-dating of collag