Characterisation of MACROD2, a putative autism susceptibility gene : translating Genome-Wide Analysis to causation

Abstract

Genome Wide Association studies (GWAS) have been used to identify genetic markers which have strong statistical association with a disease. Establishing a functional consequence of association is required to determine a causal link between marker and disease. In a recent GWA of autism the Autism Genome Project identified a strong association within the gene MACR0D2. Very little is known about the function of MACR0D2, although there are suggestions in the wider literature associating variation within MACR0D2 with neuropsychiatric disorders. This project examined the biological role of MACR0D2, with the hypothesis that disruption of MACR0D2 will impact on the structure and/or function of the neuron.