Researchers Discover Transposable Elements Involved in Rare Disease Gene Regulation

Researchers from Queen Mary University of London identify in a study appearing in Nature Structural & Molecular Biology a family of transposable elements that control the activation of certain genes that cause a rare pediatric disease called MSL3 syndrome. While mutations in the MSL3 gene are known cause the disease, the mechanism through which MSL3 mutations lead to this syndrome was unknown, the authors note in a press release. Scientists previously thought that the MSL3 complex regulates the MSL3 genes directly by activating transposable elements. However, the QMUL team finds in its new study that a family of transposable elements known as LINE1 elements could function as a switch to turn on certain MSL3 genes. "Although these DNA elements are popularly known as jumping genes, most are immobile and not harmful. We only know the tip of the iceberg about how host species are using this virus-like DNA to our own advantage," lead author Pradeepa Madapura from QMUL says in statement. The researchers say that further research is needed to test whether drugs that alter this epigenetic pathway alleviate symptoms in children with mutations in MSL genes.