Tapon N, Ito N, Dickson B J, Treisman J E, Hariharan I K
Massachusetts General Hospital Cancer Center, Charlestown, MA 02129, USA.
Cell. 2001 May 4;105(3):345-55. doi: 10.1016/s0092-8674(01)00332-4.
The inherited human disease tuberous sclerosis, characterized by hamartomatous tumors, results from mutations in either TSC1 or TSC2. We have characterized mutations in the Drosophila Tsc1 and Tsc2/gigas genes. Inactivating mutations in either gene cause an identical phenotype characterized by enhanced growth and increased cell size with no change in ploidy. Overall, mutant cells spend less time in G1. Coexpression of both Tsc1 and Tsc2 restricts tissue growth and reduces cell size and cell proliferation. This phenotype is modulated by manipulations in cyclin levels. In postmitotic mutant cells, levels of Cyclin E and Cyclin A are elevated. This correlates with a tendency for these cells to reenter the cell cycle inappropriately as is observed in the human lesions.
遗传性人类疾病结节性硬化症以错构瘤性肿瘤为特征,它是由TSC1或TSC2的突变引起的。我们已经对果蝇Tsc1和Tsc2/gigas基因中的突变进行了特征分析。任一基因的失活突变都会导致相同的表型,其特征为生长增强、细胞大小增加且倍性无变化。总体而言,突变细胞在G1期花费的时间较少。Tsc1和Tsc2的共表达会限制组织生长并减小细胞大小和细胞增殖。这种表型受细胞周期蛋白水平调控的影响。在有丝分裂后突变细胞中,细胞周期蛋白E和细胞周期蛋白A的水平升高。这与这些细胞如在人类病变中所观察到的那样不适当重新进入细胞周期的趋势相关。