Doskocil J
Institute of Molecular Genetics, Czech Academy of Sciences, Praha, Czech Republic.
J Mol Evol. 1996 May;42(5):512-24. doi: 10.1007/BF02352281.
The evolutionary past of intragenic repeats in protein-coding exons of c-, N-, L-, and s-myc-protooncogene subfamilies was elucidated. Apparently these genes evolved by succession of distinct unit events rather than by a steady flow of random point mutations. An evolutionary event probably involved a duplication of the whole gene, which was followed by amplification of progressively shorter oligonucleotide themes and motifs. The repeats were either joined in tandem or one of the copies was transposed and integrated elsewhere within the same exon. In some instances multiple fragments of an amplified theme were integrated at several sites. Direct repeats were found to prevail over inverted ones. By reconstructing the fate of repeats in the course of evolution of vertebrates, the origins of some functional domains could be traced to the initial amplification event. For example, an N-myc-specific domain was created by tandem duplication of a single-copy theme of L-myc exon; at the time of divergence of the c-myc and N-myc, the tandem duplex underwent a new round of duplication followed by transposition of the new copy, thus accounting for the formation of a new domain specific for c-myc. The model proposed here may be regarded as a molecular-level equivalent of the theory of punctuated equilibria.
阐明了c-、N-、L-和s-myc原癌基因亚家族蛋白质编码外显子中基因内重复序列的进化历程。显然,这些基因是通过一系列不同的单元事件进化而来的,而不是通过随机点突变的稳定流动。一个进化事件可能涉及整个基因的复制,随后是逐渐缩短的寡核苷酸主题和基序的扩增。这些重复序列要么串联连接,要么其中一个拷贝被转座并整合到同一外显子的其他位置。在某些情况下,一个扩增主题的多个片段被整合到几个位点。发现直接重复序列比反向重复序列更普遍。通过重建脊椎动物进化过程中重复序列的命运,可以将一些功能域的起源追溯到最初的扩增事件。例如,一个N-myc特异性结构域是由L-myc外显子的单拷贝主题串联重复形成的;在c-myc和N-myc分化时,串联双链体经历了新一轮的复制,随后新拷贝发生转座,从而解释了c-myc特异性新结构域的形成。这里提出的模型可以被视为间断平衡理论在分子水平上的等效物。