Even when our DNA is intact, the expression and behaviour of our genes can change. This can happen in various ways, including through DNA methylation, a chemical process which shuts off genes and other parts of our genome, such as transposons.
Transposons – jumping genes – are sometimes referred to as the dark part of our genome and consist of transposable DNA sequences that can cause genetic change, for example if they are integrated into a gene. These transposons are often silenced during foetal development, specifically by DNA methylation.
“Sometimes, however, DNA methylation is disrupted and studies have shown that this is significant in certain cancer tumours and in some neuropsychiatric diseases. DNA methylation is used as a target for therapy in certain cancer types, such as leukaemia, but we still lack knowledge about why this is effective and why it only works for certain types of cancer”, says Johan Jakobsson, professor at Lund University and leader of the study, which also included researchers from the Max Planck Institute for Molecular Genetics and Karolinska Institutet. The findings are now published in Nature Communications.
In fact, we know very little about the role of transposons in our DNA. One theory held by the researchers in Lund is that DNA methylation silences the parts of the genome that are not used, but only now has it been possible to study what happens when this process is removed from human cells.
The researchers used the CRISPR/Cas9 technique to successfully shut down DNA methylation in human neural stem cells in the laboratory.
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