School of Biology

Dr Judith Sleeman
Lecturer in Cell and Developmental Biology

Almost all mammalian genes contain introns, which are sequences represented in the DNA but not in the protein. These must be removed, or ‘spliced’, from the mRNA message before it can be translated. Accurate mRNA splicing requires a protein called Survival of Motor Neurons (SMN). Insufficient expression of SMN is responsible for the inherited neurodegenerative disease, spinal muscular atrophy (SMA). It is not clear how the loss of SMN protein leads to the disease. All cells need to splice their RNA correctly, but SMA specifically affects motor neurons. I'm studying the maturation of splicing factors, with a particular emphasis on their dynamics within the nucleus and differences between neural and non-neural cell types that may be significant for SMA