Perspectives – growing our knowledge

Researcher Profile: Mattias Jakobsson

The last few years’ technology advancements in genetics allow Mattias Jakobsson to analyse DNA from several thousand year old human bones. Photo: Mikael Wallerstedt

Climbing the human family tree

He could have become a professional mountaineer but instead chose to devote himself to research on genetic changes that have been of great importance to human evolution. Mattias Jakobsson was recently appointed professor of genetics.

Mattias Jakobsson has a clear memory from his childhood. He cannot read yet, but even so he is leafing through different books at home. One of the books especially caught his attention.

‘It had an image of a fossil from an Australopithecus. I remember thinking it was so cool.’

At 39 years’ age, Mattias Jakobsson is leading a group of researchers at Uppsala University and has already been published several times in prestigious journals such as Science, Nature and PNAS. Together with his colleagues, Mattias Jakobsson has among other things shown how agriculture spread through Europe during the Stone age, and contributed to new knowledge about one of the very earliest branches of the human family tree.

Mattias Jakobsson has an interest in history and was early on also focused on biology, a subject that he came to lose interest in for a period of time. Instead he started studying mathematics at the university.

’But what was I going to use the mathematics for? Genetics turned out to be the natural connection between biology and mathematics, with its logical laws.’

The technologic advancements in genetics during the last few years have allowed Mattias Jakobsson and his colleagues to analyse large amounts of DNA, sometimes even DNA from several thousand year old human bones.

‘Only ten years ago you looked at perhaps a hundred genetic markers. There has been an enormous change in the amounts of data we can generate. Now we can analyse millions of markers and we have completely different tools to investigate evolutionary and genetic hypotheses.’

One of Mattias Jakobsson’s projects focuses on investigating which regions of the genome that changed dramatically at the time of the modern human’s origin. The central question is which genetic changes were determinant for the evolution of the human as she is today.

The research group’s work happens both in the lab and in front of the computer. One of Mattias Jakobsson’s favourite parts of the research process is the initiation of a study. When he is out meeting other researchers, laying pieces of the puzzle and together with colleagues arriving at the which questions the group needs to find the answer to.

‘And I love when we get the data back. Then I can’t wait to get started. You want to quickly analyse the data and see what the results point to. After this, you sometimes feel that the study is almost done. We know the results. But perhaps the most important phase of a project is to verify the results, looking at them from different angles, thinking about alternative hypotheses and analyses. When I started doing research I thought the writing phase was unnecessary, but now I really enjoy writing a good article, telling about the results.’

There is a lot going on in genetic research right now. Around the world, new studies are being published that have been made possible by the large technological advancements. And there is a certain measure of competition between research groups working on human evolution.

‘It is not uncommon that several groups are close to making the same discovery, since the exchange of information is so quick. Some piece of the puzzle may fall into place that leads to us asking similar questions.’

Mattias Jakobsson and his colleagues had worked for a long time with a study based on analysis of genetic variants from seven groups of the click-talking Khoe and San people in southern Africa when they discovered that there was a competitor group working on a similar study. Now it became important to quickly finish off the last parts so they could present their findings.

‘I spent the night before my son’s baptism finishing off the last bits.’

And they succeeded. In September 2012 the study was published in Science. The results showed that most who identify themselves as Khoe or San are descendants of the earliest branching of the human family tree. These people belong to a branch that was separated from other people at least 100,000 years ago.

The group could also show that genes controlling skeleton morphology evolved unusually quickly during this time period, a few hundred thousand years ago, when the anatomically modern human evolved.

Together with two colleagues, Carina Schlebusch, postdoc in Mattias Jakobsson’s group, and Himla Soodyall, professor at the University of Witwatersrand, Mattias Jakobsson went to South Africa to present the results, among other occasions at the “Heritage Day” in the Kalahari together with San groups that had participated in the study.

Facts – Mattias Jakobsson

In spare time: Spends time with the family, improving the house.
Latest book read: Nelson Mandela’s Long Walk to Freedom
Accomplishments beyond research: Climbed the 6,000 metre tall top of Shipton Spire in Karakorum, Himalaya.
Right now: Was recently appointed professor of genetics. Was at the end of last year selected as Wallenberg Academy Fellow (a career programme for promising young researchers), was awarded the Swedish Research Council’s grant for prominent young researchers and was in 2012 awarded a starting grant by the European Research Council. Together with two researchers from Stockholm University, Mattias Jakobsson is also leading the ‘Atlas of Ancient Human Genomes in Sweden’ project funded by the Swedish Foundation for Humanities and Social Sciences and the Swedish Research Council.