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DNA fingerprinting pioneer discovers role of key genetic catalyst for human diversity

Research by DNA fingerprinting pioneer and his team at University of Leicester defines engine for change in genetic hotspots

One of the key drivers of human evolution and diversity, accounting for changes that occur between different generations of people, is explained by new research published today (Sept 5) by world-renowned scientist Professor Sir Alec Jeffreys, who discovered DNA fingerprinting at the University of Leicester.

Professor Jeffreys has spent over two decades since his landmark discovery in 1984 investigating what he describes as "pretty bizarre bits of DNA" - highly variable repeated parts of DNA called 'minisatellites' - found in the human genome. Sir Alec observed that these seemed to be changing and "picking up mutations at an extraordinary rate" when compared to other DNA.

Now, in a paper published online in Nature Genetics (Sept 5), Sir Alec and his team in the Department of Genetics at the University of Leicester have demonstrated the remarkable influence of a particular gene on the development of diversity in humans.

The work was funded by the Medical Research Council, the Wellcome Trust, the Boehringer Ingelheim Fonds, the Royal Society and the Louis-Jeantet Foundation. Professor Jeffreys is Royal Society Wolfson Research Professor of Genetics at Leicester.

Sir Alec said: "In each generation our genetic make-up gets 'reshuffled', like a genetic pack of cards, by a process called recombination - a fundamental engine driving diversity. The work we have done over the past 10 years at Leicester has been key to understanding recombination in humans, and has allowed the molecular definition of recombination 'hotspots' - small regions in which the reshuffling process is focused.

"Our new study has focused on a gene called PRDM9 that makes a protein which binds to DNA and triggers hotspot activity. The exciting finding is that people with different versions of PRDM9 show profoundly different recombination behaviours, not only in hotspots but also in chromosomal rearrangements that cause some genetic disorders."

Ironically, the variation in PRDM9 is due to a minisatellite within the gene itself. Sir Alec said: 'I've come full circle – starting out with minisatellites to develop DNA fingerprinting, and arriving at a gene containing a minisatellite that plays a key role in driving all kinds of human DNA diversity, including variation at minisatellites. An intriguing possibility is that it is even driving its own evolution!'

Sir Alec believes the research, along with that of others working in the field, will inevitably further scientists' ability to understand the basic processes that make us all genetically unique, as well as defining an entirely new class of genetic risk factor for numerous disease-causing DNA rearrangements that can arise when recombination goes wrong.

These findings also provide a neat solution to one great puzzle of recombination hotspots – namely that they appear and disappear rapidly during evolution. Sir Alec said 'We've shown that hotspots have a strange propensity for self-destruction, so how can they possibly exist? The PRDM9 minisatellite gives the answer – it evolves rapidly, like any other unstable minisatellite, and keeps churning out variants that can trigger new hotspots, replenishing those that have committed suicide. A totally crazy mechanism to ensure that recombination keeps going, but typical of the weird solutions that evolution can throw up'.


"PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans" by Jeffreys has been scheduled for Advance Online Publication (AOP) on Nature Genetics's website on 05 Sept at 1800 London time / 1300 US Eastern time, which is when the embargo will lift.

The full listing of authors and their affiliations for this paper is as follows:

Ingrid L Berg, Rita Neumann, Kwan-Wood G Lam, Shriparna Sarbajna, Linda Odenthal-Hesse, Celia A May & Alec J Jeffreys

Department of Genetics, University of Leicester, Leicester, UK.

Issued by University of Leicester press office
0116 252 3335 email
For almost 100 years the Medical Research Council has improved the health of people in the UK and around the world by supporting the highest quality science. The MRC invests in world-class scientists. It has produced 29 Nobel Prize winners and sustains a flourishing environment for internationally recognised research. The MRC focuses on making an impact and provides the financial muscle and scientific expertise behind medical breakthroughs, including one of the first antibiotics penicillin, the structure of DNA and the lethal link between smoking and cancer. Today MRC funded scientists tackle research into the major health challenges of the 21st century

The Wellcome Trust is a global charity dedicated to achieving extraordinary improvements in human and animal health. It supports the brightest minds in biomedical research and the medical humanities. The Trust's breadth of support includes public engagement, education and the application of research to improve health. It is independent of both political and commercial interests.

| EurekAlert!
Further information:

Further reports about: DNA DNA fingerprinting Genetics MRC Medical Wellness Nobel Prize PRDM9 genetic disorder

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