An international team of researchers, including scientists from Queensland and Western Australia, has sequenced the genome of an Aboriginal man that provides new  insights into the ancestry of Aboriginal Australians.

The findings are published in the US journal Science.

Below experts independent of the study respond.

NOTE TO JOURNALISTS: This research is separate from the paper Denisova Admixture and the First Modern Human Dispersals into Southeast Asia and Oceania, Reich et al., published in The American Society of Human Genetics today ( DOI 10.1016/j.ajhg.2011.09.005)

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Dr Emma Kowal is an NHMRC Postdoctoral Fellow in the Discipline of Anthropology in the School of Social and Political Sciences at the University of Melbourne

“The research announced today is significant scientifically but also ethically. Genetic research has had a difficult history as far as Aboriginal and Torres Strait Islander people are concerned. In particular, the Human Genome Diversity Project in the 1990s gained a wide negative reputation. It was called the ‘vampire project’ by indigenous groups worldwide and was a low point in the history of genetic research in Aboriginal communities. There has been very little genetic research since then in Aboriginal communities, partly as a result of that.

The first genome of an Aboriginal person to be sequenced came from a hair sample held in a UK museum since 1923. Historic records indicate that the hair sample was originally collected from a man at a train station at Golden Ridge near Kalgoorlie by a researcher who was travelling between Melbourne and Perth. It’s been very heartening that the research has the full approval and endorsement of the Goldfields Land and Sea Council, the community organization that represents Aboriginal people from the language group that the man is thought to be from.

But to sequence a genome from a hair sample that’s held in a museum in Europe is unchartered ethical territory. It raises questions about the many hair and other types of samples collected from Aboriginal Australians that are held in museums and universities throughout Europe and around the globe. The right precedent has been set in this case in that representative bodies in the appropriate communities have been consulted and have given approval for the sample to be used. Each Aboriginal community will have a different view on what kind of research should be done on samples that come from their community.

But we know that there are many issues involved in genetic research in Aboriginal communities that are yet to be resolved. In the last few years the Lowitja Institute (Australia’s National Institute for Aboriginal and Torres Strait Islander Health Research) has, for the first time, been bringing together genetic researchers and indigenous people to begin working through the ethical issues. The research announced today just emphasises the importance of this ongoing conversation between Indigenous Australians and genetic researchers.”

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Professor Alan Cooper is Director of the Australian Centre for Ancient DNA (ACAD) at the University of Adelaide

“It definitely strongly supports the idea that Aborigines were an early and separate wave of human expansion Out of Africa, before the subsequent wave that established Europeans and Asians. This has long been thought to be the case, due to the very early archaeological signs of Aboriginal presence in Australia (~50 kyr) and existing genetic data, but the highly-resolved view available from a genomic sequence is a really valuable contribution. While the information is only from a single individual, it provides a powerful view of the common, shared heritage of the movement of the ancestors of modern Aboriginal populations from Africa around half the world to Australia – which is one of the most important and poorly understood stories of human history.

 However, while this is a major step forward, the key unresolved question remains the unique story of Aboriginal history within Australia, ie what has happened in those 50,000 years of life in the harsh Australian environment? Unfortunately, the information from a single individual tells us very little about this fascinating, and critically important part of human history. Aborigines are one of the oldest continuous human populations outside Africa, as they note in the paper, and due to the geographic isolation and limited archaeological records – remain one of the most mysterious chapters in human history.”

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Associate Professor Darren Curnoe is leader of the Human Evolutionary Biology Lab in the School of Biological, Earth & Environmental Sciences at the University of New South Wales

“This new DNA study powerfully confirms that Aboriginal Australians are one of the oldest living populations in the world, certainly the oldest outside of Africa.

Their ancestors evolved on the African continent and were the first modern humans to arrive in Asia, the work confirming they have occupied Australia continuously since that time, perhaps 70 thousand years.

Australians are truly one of the world’s great human populations and a very ancient one at that, with deep connections to the Australian continent and broader Asian region. About this now there can be no dispute.

The study also confirms controversial claims that the ancestors of all living Eurasians interbred with the Neandertals, while past Asians/Oceanians also mated with the mysterious ancient humans from Denisova cave in Siberia. This is clear and independent validation of DNA work on both these extinct humans, confirming today’s other big announcement about their deep connections to Australians and other indigenous people in our region.”

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Maciej Henneberg is the Wood Jones Professor of Anthropological and Comparative Anatomy at The University of Adelaide’s Medical School

“This paper by Rasmussen and colleagues suffers from same problems as the one [by Reich and others also published today]. The sample size of one (N=1) for an Aboriginal Australian hair provides the entire basis for the analyses and discussions in this paper. Moreover, this sample yielded highly fragmented DNA which indicates high level of its degradation. Thus the Authors have at their disposal a single genome that is to a large extent reconstructed from degraded fragments. “

The Authors admit this limitation, but then proceed to produce a grandiose discussion on the peopling of Asia and Australia making pronouncements on the number of migration waves and links to Denisovans and Neandertals. Yet again, the directional forces of evolution are ignored (mutation and natural selection) and the analyses are couched in terms of only migration and isolation of populations as if evolution did not take place. Comparing genomes possibly separated by some 60 thousand years, as the Authors admit, would have to consider that mutations and natural selection may have altered genetic material.

It stands to reason without any analysis that continents, including Australia, were not settled by one wave of migration over tens of thousands of years. Archaeological record and historical information indicate that people move all the time and get to new places settling there or mixing with locals. What is new about it?

Models considered in this paper are very simplistic.

The paper may be showing off technical prowess of Authors at genetic analyses, but intellectually it adds very little to our understanding of the peopling of Australia.”

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Professor Richard ‘Bert’ Roberts is Director of the Centre for Archaeological Science in the School of Earth & Environmental Sciences at the University of Wollongong, NSW

“Ancient DNA studies of entire genomes are having a profound impact on how we tease apart our shared human ancestry, ranging from Neanderthals to ‘Denisovans’ and different populations of Homo sapiens. How much history we all ‘share’ with each other is a moot point, and subtle differences can be surprisingly revealing about the timing and the routes of ancient human dispersals.

Aboriginal Australians and New Guineans have long been under-represented in global surveys of human DNA, so Rasmussen and colleagues sequenced the genome of an Aboriginal Australian from a century-old lock of hair. By comparing his genome to a variety of modern DNA sequences, they found that this man was part of population that had split perhaps 75,000 to 62,000 years ago from the other groups of Homo sapiens that had also exited Africa in the initial, single dispersal event. But the authors show that the subsequent expansion into Asia most likely occurred in multiple waves, with the Aboriginal Australian being descended from the first wave to wash on to Australia’s shores.

The timing of the genetic split, before 62,000 years ago, fits neatly with the initial colonisation of Australia and Papua New Guinea some time between 60,000 and 45,000 years ago, based on archaeological discoveries such as stone tools and human fossils. The existence of Denisovan DNA in the Aboriginal Australian’s genome indicates that original dispersing population of Homo sapiens must have encountered resident Denisovans en route to Australia, possibly in New Guinea. So we now have the intriguing possibility that the island chains leading to Australia were home to the last surviving members of Homo erectus on Java, ‘hobbits’ (Homo floresiensis) on Flores, and Denisovans in New Guinea – and that some or all of these were met by the ancestors of the Aboriginal Australian whose hair was sequenced in this study.”

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* An Aboriginal Australian Genome Reveals Separate Human Dispersals into Asia, Rasmussen et al., Science, 22 September 2011 / Page 1 / 10.1126/science.1211177