Platypus genome provides clues that may impact human disease prevention

Washington, May 8 : An international consortium of scientists has, for the first time, analysed the genome of the platypus-a mammal that has a beak and feet like a duck, lays eggs, and produces milk for its young.

Led by Louisiana State University's Mark Batzer and Wes Warren of Washington University in Saint Louis, the consortium has shown that the platypus' strange looks are not only skin-deep.

The researchers have found that the platypus' DNA is an equally cobbled-together array of bird, reptile and mammalian lineages.

They claim that their analysis is the largest genetic study on platypus to date.

"Their genomic organization was strange and a little unexpected," said Batzer, Andrew C. Pereboom Alumni Departmental Professor of Biological Sciences at LSU and one of the principle investigators of the project.

"It appeared much more bird- and reptile-like than mammalian, even though it is indeed classified as a mammal. It's an ancient animal, too, and it has remained relatively primitive and unchanged, both in physical appearance and genetically," the researcher added.

The researchers believe that their discovery may lead to potential new advances in human disease prevention, and a better understanding of mammalian evolution.

"This is a huge genetic step. Understanding is key. We're learning a lot about mammalian gene regulation and immune systems, which has huge implications for disease susceptibility research. We hope to, in time, identify the underlying causes and methods of disease prevention in humans," said Batzer.

The researchers also hope that some of the clues unearthed in platypus DNA may give a boost to the efforts directed towards their conservation, which has so far been little successful due to the animal's shyness that prevents it from breeding while in captivity.

According to the research team, one of the major successes of their project was the decoding of mobile DNA elements, often called "jumping genes" or "junk DNA".

"These mobile elements were once thought to be so small that they had no function. But, in reality, they cause insertions and deletions, which can lead to genetic diseases in humans as well as the creation of new genes and gene families in the genome, which can lead to genetic disease in humans," said Batzer.

It is due to this fact that understanding the impact of mobile elements on genome structure is paramount to understanding the function of the genome, say the researchers.

In the platypus study, the research group was able to pinpoint specific instances of mobile element insertions within the species, and determine the timing of each genetic event.

Mark Weiss of the National Science Foundation (NSF), which partially funded the study, said: "Looking at the platypus genome may yield clues about the functions of certain components of DNA and contribute to our understanding of evolution."

ANI