Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

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

06.09.2010
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'.

NOTES TO EDITORS:

"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 pressoffice@le.ac.uk
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 www.mrc.ac.uk.

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:
http://www.le.ac.uk
http://www.wellcome.ac.uk

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

More articles from Life Sciences:

nachricht Newly designed molecule binds nitrogen
23.02.2018 | Julius-Maximilians-Universität Würzburg

nachricht Atomic Design by Water
23.02.2018 | Max-Planck-Institut für Eisenforschung GmbH

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Attoseconds break into atomic interior

A newly developed laser technology has enabled physicists in the Laboratory for Attosecond Physics (jointly run by LMU Munich and the Max Planck Institute of Quantum Optics) to generate attosecond bursts of high-energy photons of unprecedented intensity. This has made it possible to observe the interaction of multiple photons in a single such pulse with electrons in the inner orbital shell of an atom.

In order to observe the ultrafast electron motion in the inner shells of atoms with short light pulses, the pulses must not only be ultrashort, but very...

Im Focus: Good vibrations feel the force

A group of researchers led by Andrea Cavalleri at the Max Planck Institute for Structure and Dynamics of Matter (MPSD) in Hamburg has demonstrated a new method enabling precise measurements of the interatomic forces that hold crystalline solids together. The paper Probing the Interatomic Potential of Solids by Strong-Field Nonlinear Phononics, published online in Nature, explains how a terahertz-frequency laser pulse can drive very large deformations of the crystal.

By measuring the highly unusual atomic trajectories under extreme electromagnetic transients, the MPSD group could reconstruct how rigid the atomic bonds are...

Im Focus: Developing reliable quantum computers

International research team makes important step on the path to solving certification problems

Quantum computers may one day solve algorithmic problems which even the biggest supercomputers today can’t manage. But how do you test a quantum computer to...

Im Focus: In best circles: First integrated circuit from self-assembled polymer

For the first time, a team of researchers at the Max-Planck Institute (MPI) for Polymer Research in Mainz, Germany, has succeeded in making an integrated circuit (IC) from just a monolayer of a semiconducting polymer via a bottom-up, self-assembly approach.

In the self-assembly process, the semiconducting polymer arranges itself into an ordered monolayer in a transistor. The transistors are binary switches used...

Im Focus: Demonstration of a single molecule piezoelectric effect

Breakthrough provides a new concept of the design of molecular motors, sensors and electricity generators at nanoscale

Researchers from the Institute of Organic Chemistry and Biochemistry of the CAS (IOCB Prague), Institute of Physics of the CAS (IP CAS) and Palacký University...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

2nd International Conference on High Temperature Shape Memory Alloys (HTSMAs)

15.02.2018 | Event News

Aachen DC Grid Summit 2018

13.02.2018 | Event News

How Global Climate Policy Can Learn from the Energy Transition

12.02.2018 | Event News

 
Latest News

Basque researchers turn light upside down

23.02.2018 | Physics and Astronomy

Finnish research group discovers a new immune system regulator

23.02.2018 | Health and Medicine

Attoseconds break into atomic interior

23.02.2018 | Physics and Astronomy

VideoLinks
Science & Research
Overview of more VideoLinks >>>