Expression of the TSC2 product tuberin and its target Rap1 in normal human tissues.

摘要: The tuberous sclerosis-2 (TSC2) gene is linked to sclerosis (TSC), a dominantly inherited genetic syndrome in which inactivation of the normal TSC2 allele associated with development mostly benign tumors and focal dysplasias. encodes protein tuberin, widely expressed 180-kd polypeptide that exhibits specific GTPase activating activity toward Rap1 vitro co-localizes cultured cells. In this study, we have performed immunohistochemical analyses, using affinity-purified anti-tuberin antibodies, study distribution tuberin panel human organs are commonly affected by TSC. Cryosections indicated at low levels. More intense staining cryosections paraffin sections, was observed small blood vessels many organs, including kidney, skin, adrenal gland. High levels were also detected cortical neurons cerebellar Purkinje These findings imply loss-of-function mutations might lead highly vascularized tumors, subcortical tubers, atrophy cortex, features Moreover, found be same cells contained high suggesting functional interaction between these tissues.