Ng King Pan, Potikyan Gary, Savene Rupert O V, Denny Christopher T, Uversky Vladimir N, Lee Kevin A W
Department of Biology, Hong Kong University of Science and Technology, Clear Water Bay, Kowloon, Hong Kong, S.A.R. China.
Proc Natl Acad Sci U S A. 2007 Jan 9;104(2):479-84. doi: 10.1073/pnas.0607007104. Epub 2007 Jan 3.
Chromosomal translocations involving the N-terminal approximately 250 residues of the Ewings sarcoma (EWS) oncogene produce a group of EWS fusion proteins (EFPs) that cause several distinct human cancers. EFPs are potent transcriptional activators and interact with other proteins required for mRNA biogenesis, indicating that EFPs induce tumorigenesis by perturbing gene expression. Although EFPs were discovered more than a decade ago, molecular analysis has been greatly hindered by the repetitive EWS activation domain (EAD) structure, containing multiple degenerate hexapeptide repeats (consensus SYGQQS) with a conserved tyrosine residue. By exploiting total gene synthesis, we have been able to systematically mutagenize the EAD and determine the effect on transcriptional activation by EWS/ATF1 and cellular transformation by EWS/Fli1. In both assays, we find the following requirements for EAD function. First, multiple tyrosine residues are essential. Second, phenylalanine can effectively substitute for tyrosine, showing that an aromatic ring can confer EAD function in the absence of tyrosine phosphorylation. Third, there is little requirement for specific peptide sequences and, thus, overall sequence composition (and not the degenerate hexapeptide repeat) confers EAD activity. Consistent with the above findings, we also report that the EAD is intrinsically disordered. However, a sensitive computational predictor of natural protein disorder (PONDR VL3) identifies potential molecular recognition features that are tyrosine-dependent and that correlate well with EAD function. In summary we have uncovered several molecular features of the EAD that will impact future studies of the broader EFP family and molecular recognition by complex intrinsically disordered proteins.
涉及尤因肉瘤(EWS)癌基因N端约250个残基的染色体易位产生了一组EWS融合蛋白(EFP),这些蛋白可引发几种不同的人类癌症。EFP是强效转录激活因子,并与mRNA生物合成所需的其他蛋白相互作用,这表明EFP通过干扰基因表达诱导肿瘤发生。尽管EFP在十多年前就已被发现,但分子分析一直受到EWS激活域(EAD)重复结构的极大阻碍,该结构包含多个具有保守酪氨酸残基的简并六肽重复序列(共有序列SYGQQS)。通过利用全基因合成,我们得以系统地诱变EAD,并确定其对EWS/ATF1转录激活以及EWS/Fli1细胞转化的影响。在这两种检测中,我们发现了EAD功能的以下要求。首先,多个酪氨酸残基至关重要。其次,苯丙氨酸可有效替代酪氨酸,这表明在没有酪氨酸磷酸化的情况下,芳香环可赋予EAD功能。第三,对特定肽序列的要求很低,因此,整体序列组成(而非简并六肽重复序列)赋予EAD活性。与上述发现一致,我们还报告EAD本质上是无序的。然而,一种敏感的天然蛋白质无序计算预测器(PONDR VL3)识别出了酪氨酸依赖性的潜在分子识别特征,这些特征与EAD功能密切相关。总之,我们揭示了EAD的几个分子特征,这些特征将影响对更广泛的EFP家族以及复杂内在无序蛋白分子识别的未来研究。