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A study carried out by Dr Elaine Dunleavy in the Centre for Chromosome Biology at NUI Galway, has uncovered an unexpected new link between genes that normally function in energy production, and male fertility. Results from the research were published today (13 July 2018) in the renowned scientific journal, Nature Communications.

The study was carried out on the fruit fly Drosophila melanogaster, which serves as an excellent model organism in which to study gene function. In the cell, the function to produce energy is carried out in a compartment called the mitochondrion, while the genetic material (DNA) is housed in a different compartment, the nucleus. The authors identified a previously unknown and surprising role for a set of mitochondrial proteins in the nucleus.

Senior author of the study, Dr Elaine Dunleavy at NUI Galway, said: “We were surprised to uncover a new nuclear function for proteins that normally function exclusively in the synthesis of ATP, the cell’s energy production. Our use of the fruit fly allowed us to carry out genetic experiments that would have been very difficult to perform in humans.”

The results provide insights into how cells arrange DNA to produce the male sex cell, sperm. Dr Dunleavy found that the fruit fly was unable to arrange its DNA to produce sperm cells if it didn’t have this particular protein. In the past century, global fertility rates have reduced dramatically. Given that approximately 60% of genes found in the fruit fly are also found in humans, the findings are potentially relevant to human sperm development and fertility studies to further investigate disrupting this pathway on individuals who experience fertility problems.

Professor Noel Lowndes, Director of the Centre for Chromosome Biology at NUI Galway, said: “Dr Dunleavy, our newest recruit to the Centre for Chromosome Biology, has made a surprising link between the cell’s energy production machinery and the production of sperm, which has resulted in a highly impactful publication in one of the world’s major journals. In the Centre we take advantage of simple cellular systems to discover new biology of relevance to humans and, in this case, the work of Elaine and her team will have impact in the field of human fertility.”

Dr Dunleavy’s work studies the genetics of fruit flies as a way to understand human health and as a model to understand the cell division that gives rise to eggs and sperm. Her research aims to discover the genes that are important for fertility in males and females and understanding how the genes work in the fruit fly will help explain how they work in humans.

To read the full study in Nature Communications, visit: https://www.nature.com/articles/s41467-018-05093-9 

For more information about the Centre for Chromosome Biology, visit: www.chromosome.ie

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