In a region where modern humans are believed to have originated roughly 200,000 years ago,    DNA from the skeleton of a man who lived 2,330 years ago has a DNA profile that places it among the 'earliest diverged' – oldest in genetic terms – found to-date. 

Somehow the group broke off early in human evolution and became geographically isolated so the skeleton is modern, but its DNA is old.

Mitochondrial DNA provided the first evidence that we all come from Africa, and helps us map a figurative genetic tree, all branches deriving from a common 'Mitochondrial Eve'. Archaeologist Professor Andrew Smith from the University of Cape Town discovered the skeleton at St. Helena Bay in 2010, very close to the site where 117,000 year old human footprints had been found – dubbed "Eve's footprints". The complete 1.5 meter tall skeleton was examined by anthropologist Alan Morris from the University of Cape Town.

Morris showed that the man was a 'marine forager'. A bony growth in his ear canal, known as 'surfer's ear', suggested that he spent some time diving for food in the cold coastal waters, while shells carbon-dated to the same period, and found near his grave, confirmed his seafood diet. Osteoarthritis and tooth wear placed him in his fifties. 

Due to the acidity of the soil within the region, acquiring DNA from skeletons has proven problematic. The team with the lab of paleogeneticist Professor Svante Pääbo at the Max Planck Institute for Evolutionary Anthropolgy in Leipzig, who successfully sequenced a Neanderthal. The team generated a complete mitochondrial genome, using DNA extracted from a tooth and a rib. The findings provided genomic evidence that this man, from a lineage now presumed extinct, as well as other indigenous coastal dwellers like him, were the most closely related to 'Mitochondrial Eve'. 

"Alan helped establish that this man was a marine hunter-gatherer - in contrast to the contemporary inland hunter-gatherers from the Kalahari dessert. We were very curious to know how this man related to them," said co-author Vanessa Hayes, Professor of Genomic Medicine at the J. Craig Venter Institute in San Diego, who now heads the Laboratory for Human Comparative and Prostate Cancer Genomics at Sydney's Garvan Institute of Medical Research. "We also know that this man pre-dates migration into the region, which took place around 2,000 years ago when pastoralists made their way down the coast from Angola, bringing herds of sheep. We could demonstrate that our marine hunter-gatherer carried a different maternal lineage to these early migrants – containing a DNA variant that we have never seen before."

"Because of this, the study gives a baseline against which historic herders at the Cape can now be compared. If we want a good reference, we have to go back to our early human origins. None of us that walk on this planet now are pure anything - we are all mixtures. For example 1-4% of Eurasians even carry Neanderthal DNA"

"We need more genomes that don't have extensive admixture. In other words, we need to reduce the noise. In this study, I believe we may have found an individual from a lineage that broke off early in modern human evolution and remained geographically isolated. That would contribute significantly to refining the human reference genome."

 Published in Genome Biology and Evolution. Source: Garvan Institute of Medical Research