Suzuki Akira, Nakano Toru, Mak Tak Wah, Sasaki Takehiko
Division of Embryonic and Genetic Engineering, Medical Institute of Bioregulation, Kyushu University, Fukuoka 812-8582, Japan.
Cancer Sci. 2008 Feb;99(2):209-13. doi: 10.1111/j.1349-7006.2007.00670.x. Epub 2008 Jan 15.
PTEN is a tumor suppressor gene mutated in many human sporadic cancers and in hereditary cancer syndromes such as Cowden disease. The major substrate of PTEN is phosphatidylinositol-3,4,5-trisphosphate (PI(3,4,5)P3), a second messenger molecule produced following PI3K activation induced by a variety of stimuli. PI(3,4,5)P3 activates the serine-threonine kinase Akt, which is involved in antiapoptosis, proliferation and oncogenesis. In mice, heterozygosity for a null mutation of Pten (Pten(+/-)mice) frequently leads to the development of a variety of cancers and autoimmune disease. Homozygosity for the null mutation (Pten(-/-) mice) results in early embryonic lethality, precluding the functional analysis of Pten in adult tissues and organs. To investigate the physiological functions of Pten in viable mice, we and other groups have used the Cre-loxP system to generate various tissue-specific Pten mutations. The present review will summarize results obtained from the study of conditional mutant mice lacking Pten in specific tissues, and discuss the possible biological and molecular explanations for why Pten deficiency leads to tumorigenesis.
PTEN是一种肿瘤抑制基因,在许多人类散发性癌症以及遗传性癌症综合征(如考登病)中发生突变。PTEN的主要底物是磷脂酰肌醇-3,4,5-三磷酸(PI(3,4,5)P3),它是在多种刺激诱导PI3K激活后产生的一种第二信使分子。PI(3,4,5)P3激活丝氨酸-苏氨酸激酶Akt,Akt参与抗凋亡、增殖和肿瘤发生。在小鼠中,Pten无效突变的杂合性(Pten(+/-)小鼠)经常导致多种癌症和自身免疫性疾病的发生。无效突变的纯合性(Pten(-/-)小鼠)导致早期胚胎致死,从而排除了对成年组织和器官中Pten的功能分析。为了研究Pten在存活小鼠中的生理功能,我们和其他研究小组使用Cre-loxP系统产生了各种组织特异性的Pten突变。本综述将总结从对特定组织中缺乏Pten的条件性突变小鼠的研究中获得的结果,并讨论Pten缺陷导致肿瘤发生的可能生物学和分子解释。