In a discovery spanning millions of years, scientists have found that humans,and most likely other animals, share important genetic mechanisms with aprehistoric Great Barrier Reef sea sponge.
The University of Queensland’s Professor Bernie Degnan said some elements ofthe human genome – an organism’s complete set of DNA – functioned in the sameway as the sponge.
“Incredibly, these elements have been preserved across 700 million years ofevolution,” Professor Degnan said.
“This mechanism drives gene expression, which is key to species diversityacross the animal kingdom.
“It’s an important piece of a puzzle over many millions of years, and willfeed into future research studies across the medical, technology and lifesciences fields.”
The significance of unravelling a mystery of this magnitude is not lost onformer Degnan Lab researcher, Dr Emily Wong, now with the Victor Chang CardiacResearch Institute and UNSW Sydney.
“This is a fundamental discovery in evolution and the understanding of geneticdiseases, which we never imagined was possible,” Dr Wong said.
“It was such a far-fetched idea to begin with, but we had nothing to lose sowe went for it.
“We collected sea sponge samples from the Great Barrier Reef at UQ’s HeronIsland Research Station, before extracting DNA samples from the sea sponge andinjecting them into a single cell from a zebrafish embryo.
“Without harming the zebrafish, we then repeated the process at the VictorChang Cardiac Research Institute with hundreds of embryos, inserting small DNAsamples from humans and mice as well.
“What we found is despite a lack of similarity between sponge and human DNA,we identified a similar set of genomic instructions that controls geneexpression in both organisms – we were blown away by the results.”
Scientists say the sections of DNA that are responsible for controlling geneexpression are notoriously difficult to find, study and understand.
Even though they make up a significant part of the human genome, researchersare only at the beginnings of understanding this genetic “dark matter”.
“We are interested in an important class of these regions called ‘enhancers’,”Dr Wong said.
“Trying to find these regions based on the genome sequence alone is likelooking for a light switch in a pitch-black room.
“And that’s why, up to this point, there has not been a single example of aDNA sequence enhancer that has been found to be conserved across the animalkingdom.”
Dr Wong’s husband and paper co-senior author, Associate Professor MathiasFrancois, from the Centenary Institute, said the work was incredibly exciting.
“The team focused on an ancient gene that is important in our nervous systembut which also gave rise to a gene critical in heart development, and thefindings will also drive biomedical research and future healthcare benefitstoo,” Dr Francois said.
“The more we know about how our genes are wired, the better we are able todevelop new treatments for diseases.”
Researchers on this study are affiliated with the University of Queensland,the Victor Chang Cardiac Research Institute, Centenary Institute, UNSW Sydney,Monash University, University of Melbourne and University of Sydney.
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