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Scientists at the Department of Paediatrics have discovered a new pathway that the human body uses to silence transposable elements or ‘jumping genes’. Dr. Rebecca Berrens, Principal Investigator in the Transposon Group, has published research into the piRNA pathway, a key process our body uses to keep these transposable elements in check.

Dr. Rebecca Berrens, Principal Investigator in the Transposon Group; inset Transposon protein C19ORF84

The research, published by Molecular Cell, was written in collaboration with the O’Carroll lab at the University of Edinburgh, and includes detail on the discovery of a new protein called C19ORF84, essential for controlling these transposable elements.

Transposons are troublesome because they have the ability to move around within the genome and this mobility can cause disruptions in the genetic code. When transposons insert themselves into important genes or regulatory regions, they can disrupt normal gene function leading to diseases or genetic disorders. Additionally, their movement can cause chromosomal rearrangements such as deletions or duplications, which can further destabilise the genome.

Dr. Berrens said: “We have discovered a new protein called C19ORF84 that plays a crucial role in a process called piRNA-directed transposon methylation. This process is important for maintaining the integrity of genetic information in cells, particularly reproductive cells. C19ORF84 helps recruit the DNA methylation machinery DNMT3L/DNMT3C to a specific loci in fetal germ cells. This suggests that C19ORF84 acts like a connector, allowing DNMT3L/DNMT3C to do its job of adding chemical tags to DNA, which is a crucial step in transposon methylation.”

The research also discovered that another protein called SPOCD1, which is involved in transposon methylation, needs additional helpers to carry out its task effectively. This implies that SPOCD1 acts like a coordinator, bringing together different components needed for DNA methylation to happen smoothly.

By using this multifaceted approach, cells can precisely control where DNA methylation occurs, which is important for preventing harmful changes in the genetic material, known as epimutations, especially in reproductive cells. These findings shed light on the complexity of genetic regulation and maintenance in cells.

The Transposon group, led by Dr. Berrens, studies the role of transposable elements in gene regulation. Her team is investigating the activity of jumping genes in different cells during early mammal growth, how they change into different cell types, and how they influence near and far away gene activity during the process of cells deciding their future roles. This research is crucial to improving our understanding of genome biology and genetic conditions. The behaviour and mechanisms of jumping genes can provide insight into the underlying causes of genetic diseases, potentially leading to the development of new diagnostic tools and therapeutic strategies.

Read the research at: C19ORF84 connects piRNA and DNA methylation machineries to defend the mammalian germ line - ScienceDirect