Morgenbesser S D, Williams B O, Jacks T, DePinho R A
Department of Microbiology and Immunology, Albert Einstein College of Medicine, Bronx, New York 10461.
Nature. 1994 Sep 1;371(6492):72-4. doi: 10.1038/371072a0.
The retinoblastoma tumour-suppressor gene (RB) has been implicated in negative growth regulation, induction of differentiation, and inhibition of cellular transformation. Homozygous inactivation of the Rb gene in the mouse leads to mid-gestational lethality with defects in erythropoiesis and neurogenesis. Here we describe the effects of the Rb-deficient state on the development of the ocular lens. The regional compartmentalization of growth, differentiation and apoptosis in the developing lens provides an ideal system to examine more closely the relationships of these processes in vivo. We demonstrate that loss of Rb function is associated with unchecked proliferation, impaired expression of differentiation markers, and inappropriate apoptosis in lens fibre cells. In addition, we show that ectopic apoptosis in Rb-deficient lenses is dependent on p53, because embryos doubly null for Rb and p53 show a nearly complete suppression of this effect. This developmental system provides a framework for understanding the consequences of the frequent mutation of both RB and p53 in human cancer.
视网膜母细胞瘤肿瘤抑制基因(RB)与负性生长调节、诱导分化及抑制细胞转化有关。小鼠中Rb基因的纯合失活会导致妊娠中期致死,并伴有红细胞生成和神经发生缺陷。在此,我们描述了Rb基因缺陷状态对晶状体发育的影响。发育中的晶状体在生长、分化和凋亡方面的区域分隔为更深入地研究体内这些过程之间的关系提供了一个理想的系统。我们证明,Rb功能的丧失与晶状体纤维细胞不受控制的增殖、分化标志物表达受损以及不适当的凋亡有关。此外,我们表明,Rb基因缺陷晶状体中的异位凋亡依赖于p53,因为Rb和p53双缺失的胚胎几乎完全抑制了这种效应。这个发育系统为理解人类癌症中RB和p53频繁突变的后果提供了一个框架。