Expression of the tuberous sclerosis 2 gene product, tuberin, in adult and developing nervous system tissues

Neurobiology of Disease
R T GeistD H Gutmann

Abstract

Tuberous sclerosis (TS) is an autosomal dominant disorder in which affected individuals manifest mental retardation, seizures, and a variety of benign and malignant tumors. The TSC2 tumor suppressor gene was recently identified by positional cloning and its protein product, tuberin, shown to represent one member of the rap GTPase activating protein (rapGAP) family. In order to determine the contribution of tuberin to the development of mental retardation and seizures in patients with TS, we examined the expression of tuberin in adult and developing nervous system tissues. Since tuberin is the second rapGAP found in the nervous system, the expression of tuberin was compared to the expression of rapGAP, rap1, and rap2. In this study, we demonstrate that tuberin is expressed at greatest levels in the spinal cord and cerebellum as opposed to rapGAP, which is not enriched in these tissues. Tuberin expression in the adult CNS is restricted to the olfactory bulb, several CNS neuronal populations, brainstem nuclei, cerebellar Purkinje cells, and motor neurons in the ventral spinal cord. In contrast, rapGAP is expressed in many different cell types in the adult CNS, but not in cerebellar Purkinje cells or motor neurons in the ventral sp...Continue Reading

Citations

Dec 23, 1998·Proceedings of the National Academy of Sciences of the United States of America·G RennebeckC L Walker
Jul 5, 2006·Seminars in Pediatric Neurology·Kevin C Ess
Jun 26, 2010·The European Journal of Neuroscience·Christina Spilker, Michael R Kreutz
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