Getting your “DNA done” is all the rage in the United States.
The tests claim to reveal deep ancestral origins, and many public users of this technology are black Americans seeking information about their African roots.
The uptake of direct-to-consumer genetic testing has been slower in Australia, and complicated by debates both beyond and within the Indigenous community – with some leaders calling on greater scrutiny to prevent “fakes” or “wannabes” calling themselves Indigenous.
One of the authors of this paper – Shaun Lehmann – was dropped into this debate inadvertently, after receiving the result of his own DNA test a few years ago.
He had more professional reasons for doing the test than most: at the time he was lecturing in human genetic diversity at the Australian National University and wanted to use his own genetic data as a teaching tool.
He also had personal questions about his maternal grandmother, who had died when he was a small child. She had grown up without her mother and said little about her background.
Because they are related through a direct maternal line, Shaun knew that it was his grandmother, and by extension mysterious great-grandmother, who gave him his mitochondrial genome.
Mitochondria are the tiny organelles that make energy in our cells. While the genome in the nucleus of our cells – our 23 pairs of chromosomes – is made up of a mix of our biological mother’s and father’s DNA, the relatively small mitochondrial genome is passed down through the egg and so reflects a single line of maternal ancestors.
What Shaun didn’t know at the time, and what the test revealed, was that his particular mitochondrial genome fell into a haplogroup (a grouping of similar mitochondrial genomes) called “S2”, which has only been observed in Aboriginal Australians.
