Mater researchers further understanding of jumping genes in liver cancer

Wednesday 04 July 2018

Professor Geoff Faulkner and his lab recently published a paper in Genome Research that furthers the understanding of the role of jumping genes in liver cancer.

Long Interspersed Element 1 (LINE-1 or L1) is a gene that can “jump”, or copy and paste itself, from place to place in a cell’s genomic DNA.

Most of the time this jumping doesn’t cause a problem, but if L1 copies itself into a gene it can cause mutations that make things go wrong at the cellular level. 

Deregulated or uncontrolled L1 activity is a hallmark of cancer and mutations caused by L1 activity have been described in a number of human malignancies.

Until recently, it was believed that active L1 jumping in hepatocarcinogenesis (the production of cancer in the liver) was associated with hepatitis B or hepatitis C infections, based on work Professor Geoff Faulkner published in Cell in 2013.

In collaboration with researchers in France and Italy, Professor Faulkner and his team used high-throughput DNA sequencing, for the first time, to demonstrate the presence of L1 jumps (insertions) in pre-clinical mouse models of liver cancer.

They also showed that L1 insertions were present in tumours from patients with a history of alcohol abuse or intrahepatic cholangiocarcinoma (ICC), the second most common liver cancer type.

Professor Faulkner said the findings were important. 

“This work shows L1 activity is a common feature of all liver cancer types, not just those driven by viral infection. It also open up new avenues to explore whether L1 activity can be used as a biomarker for liver cancer.”

Schauer SN, Carreira PE, Shukla R, Gerhardt DJ, Gerdes P, Sanchez-Luque FJ, Nicoli P, Kindlova M, Ghisletti S, Santos AD, Rapoud, D, Samuel, D, Faivre, J, Ewing, AD, Richardson, SR, Faulkner, GJ: L1 retrotransposition is a common feature of mammalian hepatocarcinogenesis. Genome Res 2018, 28:639-653.