A landmark international study involving University of Queensland researchers has discovered how human and mammal cells develop specialised functions.

UQ’s Australian Institute for Bioengineering and Nanotechnology Associate Professor Christine Wells said the FANTOM5 consortium research would help scientists better understand human development disorders and how bodies respond to stress or infection.

“Human life begins from a single fertilised egg which divides repeatedly to form all the different types of cells a body requires to function,” Dr Wells said.

“The FANTOM5 (Functional Annotation of the Mammalian Genome ) team appears to have uncovered a key part of the puzzle about how cells differentiate to perform different functions and develop into more specialised cell types, such as brain cells, blood cells or muscle cells.”

The team showed that when cells turn on new genes, this process starts from enhancer regions, a type of DNA “switch” and key regulatory elements throughout the genome.  

“We knew enhancers played a role in development, but this research shows they are much more dynamic than initially thought, and are responsible for activating a cell to react to its environment,” Dr Wells said.

The research examined 19 human cell types and 14 mouse cell types and showed that the enhancers activate a specific type of regulatory gene.

“The regulatory gene has the ability to activate other genes over time, forming a cascade of changes,” Dr Wells said.

“These patterns were shared across all the different types of cells studied.”

Dr Wells said the study would inform future medical research.

“We are just beginning to understand the implications of this finding,” she said. “This is one part of a very complex puzzle of life,” she said.

Stem cell researcher Professor Ernst Wolvetang, also from UQ’s Australian Institute of Bioengineering and Nanotechnology, said the findings were an important part of the puzzle in understanding how human bodies worked in health and disease.

The research is published here in Science.

Other Australian-based scientists involved in this work were FANTOM5 project scientific coordinator Professor Alistair Forrest at the Harry Perkins Institute of Medical Research; Western Australian chief scientist Professor Peter Klinken; Dr Louise Winteringham at the Harry Perkins Institute of Medical Research; and Dr Timo Lassmann at the Telethon Kids Institute.

FANTOM is an international research consortium established in 2000 at RIKEN, Japan's largest research institute for basic and applied research.

Media: Petrina Gilmore: p.gilmore@uq.edu.au

           A/Professor Christine Wells: c.wells@uq.edu.au.

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