THE TUBEROUS-SCLEROSIS-2 GENE IS EXPRESSED AT HIGH-LEVELS IN THE CEREBELLUM AND DEVELOPING SPINAL-CORD

Tuberous sclerosis (TS) is an autosomal dominant multisystem disorder characterized by the widespread development of hamartomas in many tiss ues and organs. TSC2 is predicted to encode a 1784-amino acid tumor su ppressor protein that may function, in part, as a GTPase-activating pr otein for Rap1. Given the high incidence of central nervous system abn ormalities in individuals affected with tuberous sclerosis, the expres sion of TSC2 in developing and adult nervous system tissues was examin ed. Reverse transcription-PCR, Northern blot, and in situ hybridizatio n analyses demonstrated high levels of expression of TSC2 in the adult brain and developing central nervous system. Abundant TSC2 expression was detected in the adult cerebellum, hippocampus, and olfactory bulb , with lower levels of expression observed in other tissues, including heart and kidney. This enrichment of TSC2 expression in neurons in th e central nervous system suggests unique roles for this tumor suppress or gene product in the development and differentiation of nervous syst em tissues.