Investigating the function of the non-specific X-linked mental retardation protein IIRAPL. (360G-Wellcome-086364_Z_08_A)

Non-specific X-linked mental retardation (NS-XLMR) affects approximately 1 in 1 ,000 males and mutations in a series of genes have been associated with this inborn disease. By examining the normal function of these genes and how their mutations result in cognitive impairment, it is hoped that we will develop a general understanding of this condition and thereby identify new avenues for treatment. Mutations in a gene called the IL-1 receptor accessory protein-like gene (IL 1 RAPL) have recently been shown to be responsible for NS-XLMR. In this DPhil project the student aims to examine the cellular function(s) of IL 1 RAPL and how this protein contributes to NS-XLMR. To achieve this goal the work has been divided according to the following experimental aims: (1) To characterise IL 1RAPL in mammalian neurons by determining its distribution and subcellular localisation. (2) To examine how IL 1 RAPL contributes to presynaptic development and function in developing neurons. (3) To examine how IL1 RAPL contributes to postsynaptic development and signalling in developing neurons.