从李-弗劳梅尼综合征及李-弗劳梅尼综合征样家族成员中分离出的p53寡聚化结构域突变的特征分析。
Characterization of p53 oligomerization domain mutations isolated from Li-Fraumeni and Li-Fraumeni like family members.
作者信息
Lomax M E, Barnes D M, Hupp T R, Picksley S M, Camplejohn R S
机构信息
Richard Dimbleby Department of Cancer Research, UMDS, St. Thomas' Hospital, London, UK.
出版信息
Oncogene. 1998 Aug 6;17(5):643-9. doi: 10.1038/sj.onc.1201974.
p53 is a tumour suppressor gene which functions as a transcription factor to upregulate genes for growth arrest and apoptosis following DNA damage. p53 mutations are associated with Li-Fraumeni and Li-Fraumeni like syndromes. Recently mutations of the oligomerization domain have been isolated from an LFS and an LFL family affecting respectively codon 344 (Leu to Pro) and 337 (Arg to Cys). The present study was designed to determine the affect of these mutations on the function of p53 protein. p53 344 Leu to Pro existed only in a monomeric form and could not bind to DNA. It was inactive at inducing apoptosis, transactivating luciferase from a bax promoter and inhibiting cell growth. In contrast, p53 337 Arg to Cys could form tetramers and could bind to DNA. However, p53 337 Arg to Cys was not fully active and could only induce apoptosis, transactivate luciferase from a bax promoter and inhibit cell growth with approximately 60% of the ability of wild-type p53. Both mutant proteins had reduced ability to bind to MDM2, p53 337 Arg to Cys being more reduced than p53 344 Leu to Pro. These results indicate that point mutations in the oligomerization domain can disrupt p53 function. In addition, the value of LFS and LFL families for the further understanding of the biological and biochemical properties of p53 is demonstrated.
p53是一种肿瘤抑制基因,作为转录因子发挥作用,在DNA损伤后上调促进生长停滞和凋亡的基因。p53突变与李-佛美尼综合征及李-佛美尼样综合征相关。最近,在一个李-佛美尼综合征(LFS)家系和一个李-佛美尼样综合征(LFL)家系中分别分离出了寡聚化结构域的突变,分别影响密码子344(亮氨酸突变为脯氨酸)和337(精氨酸突变为半胱氨酸)。本研究旨在确定这些突变对p53蛋白功能的影响。p53 344位亮氨酸突变为脯氨酸后仅以单体形式存在,无法与DNA结合。它在诱导凋亡、从bax启动子反式激活荧光素酶以及抑制细胞生长方面均无活性。相比之下,p53 337位精氨酸突变为半胱氨酸后可形成四聚体并能与DNA结合。然而,p53 337位精氨酸突变为半胱氨酸并不完全具有活性,仅能诱导凋亡、从bax启动子反式激活荧光素酶以及抑制细胞生长,其能力约为野生型p53的60%。两种突变蛋白与MDM2结合的能力均降低,p53 337位精氨酸突变为半胱氨酸的降低程度比p53 344位亮氨酸突变为脯氨酸更为明显。这些结果表明,寡聚化结构域中的点突变可破坏p53功能。此外,还证明了LFS和LFL家系对于进一步了解p53的生物学和生化特性的价值。