Prof Nicholas Luscombe
The role of 3' UTR variation in the molecular pathogenesis of motor neuron disease.
Neurodegenerative disease in general
Amyotroph | Motor Neuron
3′ untranslated regions (3′ UTRs) play critical roles in the control of mRNA translation and stability by presenting sequence motifs and secondary structural elements that mediate interactions between the mRNA and other factors such as proteins or miRNAs. Recent studies have demonstrated that human genetic variations in UTRs impact upon gene expression to a similar degree as variations in promoter sequences. Professors Luscombe and Ule hypothesise that 3′ UTR sequence variation disrupts mRNA sta bility and translation, which can contribute to the pathogenesis of diseases such as cancer or neurodegeneration. They will use genetic and biochemical investigations in differentiated human motor neurones combined with computational modelling to study the impact of alternative 3′ UTRs on health and disease.