Geist R T, Gutmann D H
Department of Neurology, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
Cell Growth Differ. 1995 Nov;6(11):1477-83.
Tuberous sclerosis (TS) is an autosomal dominant multisystem disorder characterized by the widespread development of hamartomas in many tissues and organs. TSC2 is predicted to encode a 1784-amino acid tumor suppressor protein that may function, in part, as a GTPase-activating protein for Rap1. Given the high incidence of central nervous system abnormalities in individuals affected with tuberous sclerosis, the expression of TSC2 in developing and adult nervous system tissues was examined. Reverse transcription-PCR, Northern blot, and in situ hybridization 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 the central nervous system suggests unique roles for this tumor suppressor gene product in the development and differentiation of nervous system tissues.
结节性硬化症（TS）是一种常染色体显性多系统疾病，其特征是在许多组织和器官中广泛出现错构瘤。TSC2预计编码一种1784个氨基酸的肿瘤抑制蛋白，该蛋白可能部分作为Rap1的GTP酶激活蛋白发挥作用。鉴于结节性硬化症患者中枢神经系统异常的高发生率，对TSC2在发育中和成年神经系统组织中的表达进行了检测。逆转录-聚合酶链反应（RT-PCR）、Northern印迹和原位杂交分析表明，TSC2在成年大脑和发育中的中枢神经系统中高水平表达。在成年小脑、海马体和嗅球中检测到丰富的TSC2表达，而在包括心脏和肾脏在内 的其他组织中观察到较低水平的表达。TSC2在中枢神经系统神经元中的这种表达富集表明该肿瘤抑制基因产物在神经系统组织的发育和分化中具有独特作用。
