17 December 2004

Research by a UQ scientist has been recognised as one of the top ten discoveries of 2004 by the world-leading journal Science.

Institute for Molecular Bioscience's Professor John Mattick's work investigating the role of ‘junk' DNA in genetic programming and regulation is leading to a reappraisal of the central dogma of molecular biology.

Professor Mattick said sequencing of the human genome, as well as other organisms like mouse and bacteria, allowed scientists to compare and contrast features like the complexity of organisms and the role of non-protein coding DNA; the DNA between the ‘genes'.

"Scientists generally thought all the relevant genetic information required to make a human was contained in the 1.2% of DNA that encodes for proteins, and adjacent signals," Professor Mattick said.

"However there is growing evidence to suggest human complexity is not totally contained in genes alone and the remaining 98% of our DNA, often referred to as junk, plays a vital role in telling our genes what to do."

In May, Professor Mattick's team along with collaborators from the University of California at Santa Cruz published a paper in Science detailing a new class of genetic elements with the potential to radically alter our notions of how the genome "comes to life" to form humans.

Despite hundreds of millions of years of evolution there are thousands of these genetic elements in humans, rats and mice that remain identical.

"We believe these genetic elements may form part of a sophisticated and previously unrecognised digital instruction manual for the assembly of complex organisms like humans," Professor Mattick said.

"The chance of these sequences remaining the same through millions of years of evolution is so small, there had to be a critical but as yet unknown evolutionary reason to keep these sequences identical.

"Highly conserved regions of DNA are good indicators of biological importance and it is likely that these elements are essential for vertebrate and mammalian development.

"If so, it strengthens our argument that ‘junk` DNA contains complex regulatory and programming information, challenging current theories on the genetic structure of complex organisms."

"Rather than thinking of genes as oases in the desert of junk DNA, we propose that they are islands of protein-coding information floating in a sea of regulatory information," Professor Mattick said.

"Our discovery coupled with others in this rapidly advancing field opens up a new field of research into the true nature of human genetic programming and how we grow and develop differently form each other."

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