Genetic study reveals 50 thousand years of independent history of Aboriginal Australian people

Researchers worked with Aboriginal Australian communities to explore heritage

The first complete sequences of the Y chromosomes of Aboriginal Australian men have revealed a deep indigenous genetic history tracing all the way back to the initial settlement of the continent 50 thousand years ago, according to a study published in the journal Current Biology today (25th February 2016).

The study by researchers from the Wellcome Trust Sanger Institute and collaborators at La Trobe University in Melbourne and several other Australian institutes, challenges a previous theory that suggested an influx of people from India into Australia around four to five thousand years ago. This new DNA sequencing study focused on the Y chromosome, which is transmitted only from father to son, and found no support for such a prehistoric migration. The results instead show a long and independent genetic history in Australia.

Modern humans arrived in Australia about 50 thousand years ago, forming the ancestors of present-day Aboriginal Australians. They were amongst the earliest settlers outside Africa. They arrived in an ancient continent made up of today’s Australia, Tasmania and New Guinea, called Sahul, probably thousands of years before modern humans arrived in Europe.

Five thousand years ago, dingos, the native dogs, somehow arrived in Australia, and changes in stone tool use and language around the same time raised the question of whether there were also associated genetic changes in the Australian Aboriginal population. At least two previous genetic studies, one of which was based on the Y chromosome, had proposed that these changes could have coincided with mixing of Aboriginal and Indian populations about five thousand years ago.

“We worked closely with Aboriginal Australian communities to sequence the Y chromosome DNA from 13 male volunteers to investigate their ancestry. The data show that Aboriginal Australian Y chromosomes are very distinct from Indian ones. These results refute the previous Y chromosome study, thus excluding this part of the puzzle as providing evidence for a prehistoric migration from India. Instead, the results are in agreement with the archaeological record about when people arrived in this part of the world.”

Anders Bergstrӧm First author on the paper at the Wellcome Trust Sanger Institute

“Clearly there is keen interest in the Aboriginal community to explore their genetic ancestry and without them this study would not be possible – our first step was to return their results to them, before the scientific article was published. This collaboration in genome sequencing, to explore their ancient history, was made possible by years of engagement beforehand with Aboriginal communities.”

Dr John Mitchell Associate Professor at La Trobe University in Melbourne

Further study is needed to answer questions such as how the dingo did get to Australia and why other people such as the seafaring Polynesians didn’t settle on the continent. Expanding the genetic analyses beyond the Y chromosome and to the whole genome will also be necessary to completely rule out external genetic influences on the Aboriginal Australian population before the very recent times.

“As an Aboriginal Elder and cultural consultant for this project I am delighted, although not surprised, that science has confirmed what our ancestors have taught us over many generations, that we have lived here since the Dreaming.”

Lesley Williams who was responsible for the liaison with the Aboriginal community

“By fully sequencing and analysing Y-chromosomal DNA, we have been able to trace ancient human migrations and inform living people about their ancestry. We are using the latest technology to genetically unearth our ancient history – something that has only become possible in the last decade. We look forward to further collaborations to understand more of this unique heritage.”
Dr Chris Tyler Smith Group leader at the Wellcome Trust Sanger Institute

More information


Our work was supported by The Wellcome Trust grant 098051.

Participating Centres:

  • The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambs. CB10 1SA, UK
  • Department of Biochemistry and Genetics, La Trobe Institute of Molecular Sciences, La Trobe University, Melbourne, Victoria 3086, Australia
  • Department of Medicine, University of Cambridge, Cambridge CB2 2QQ, UK
  • Australian Genome Research Facility, Melbourne, Victoria 3052, Australia
  • Division of Systems Biology and Personalised Medicine, Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria 3052 Australia
  • Office of the Chief Forensic Scientist, Victorian Police Forensic Services Department, Melbourne, Victoria 3085, Australia
  • Griffith University, Queensland 4222, Australia
  • Community Elder and Cultural Advisor, Brisbane, Queensland 4011, Australia


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Selected websites

  • La Trobe University

    La Trobe University is one of the oldest Universities in the Australian state of Victoria. More than 170,000 students have graduated from La Trobe since it opened its doors almost 50 years ago. Among them are the CEOs of some of our most prominent organisations, parliamentarians, human rights activists, medical researchers and Olympians. They are also nurses, teachers, journalists, engineers, artists and lawyers who have transformed lives, professions and communities.

    La Trobe is the largest provider of university education in regional Victoria, with more than 6,500 student enrolments at four regional campuses. We have been ranked among the top ten universities in Australia, and the top three in Victoria, for the numbers of specific fields of research ranked at ‘well above world standard’ in the latest official Government Excellence in Research for Australia (ERA) survey. La Trobe’s strengths extend to the Arts and Humanities. La Trobe is among the world’s elite institutions in more than a third of subjects assessed in the 2015 QS World University Rankings.

  • The Wellcome Trust Sanger Institute

    The Wellcome Trust Sanger Institute is one of the world’s leading genome centres. Through its ability to conduct research at scale, it is able to engage in bold and long-term exploratory projects that are designed to influence and empower medical science globally. Institute research findings, generated through its own research programmes and through its leading role in international consortia, are being used to develop new diagnostics and treatments for human disease.

  • The Wellcome Trust

    The Wellcome Trust is a global charitable foundation dedicated to achieving extraordinary improvements in human and animal health. We support the brightest minds in biomedical research and the medical humanities. Our breadth of support includes public engagement, education and the application of research to improve health. We are independent of both political and commercial interests.