Desset S, Conte C, Dimitri P, Calco V, Dastugue B, Vaury C
INSERM U384, Faculté de Médecine, Clermont-Ferrand, France.
Mol Biol Evol. 1999 Jan;16(1):54-66. doi: 10.1093/oxfordjournals.molbev.a026038.
We describe a novel transposition system in a line of Drosophila melanogaster called RevI in which two retroelements are mobilized. These elements are the retroelement ZAM, recently described in the literature, and a novel element designated Idefix. Like ZAM, Idefix displays the structural features of a vertebrate retrovirus. Its three open reading frames encode predicted products resembling the products of the gag, pol, and env genes of retroviruses. In situ hybridization and Southern analyses performed on the RevI genome revealed the presence of some 20 copies of ZAM and Idefix, whereas ZAM is absent and Idefix is present in only four copies on the chromosomal arms of the original parental line. From RevI, a series of mutations affecting eye coloration has been recovered. The genetic and molecular analyses of these mutations have shown that most of them affected the white locus through three rounds of mutational events. The first mutational event was previously shown to be caused by a ZAM insertion 3 kb upstream of the transcription start site of white. It confers a red-brick phenotype to the orange eye coloration of the parental line. The second event results from the insertion of an Idefix copy 1.7 kb upstream of the transcription start site of the white gene, which modifies the red-brick phenotype to orange. This second mutational event was recovered as a recurrent specific mutation in 11 independent individuals. The third event results from an additional Idefix located 1.7 kb upstream of white that is responsible for the full reversion of the orange phenotype to red-brick. The fact that such mutations due to recurrent appearances of both ZAM and Idefix at the white locus result in such a variety of phenotypes brings to light a new molecular system in which the interference of mobile elements with the correct expression of the host gene can be tested.
我们在一种名为RevI的黑腹果蝇品系中描述了一种新型转座系统,其中有两个逆转录元件被激活。这些元件是文献中最近描述的逆转录元件ZAM和一个新指定的元件Idefix。与ZAM一样,Idefix具有脊椎动物逆转录病毒的结构特征。它的三个开放阅读框编码的预测产物类似于逆转录病毒gag、pol和env基因的产物。对RevI基因组进行的原位杂交和Southern分析显示,存在约20个ZAM和Idefix拷贝,而在原始亲本品系的染色体臂上ZAM不存在,Idefix仅存在4个拷贝。从RevI中,已经获得了一系列影响眼色的突变。对这些突变的遗传和分子分析表明,它们中的大多数通过三轮突变事件影响了白眼基因座。第一个突变事件先前已证明是由ZAM插入到白眼转录起始位点上游3 kb处引起的。它使亲本品系的橙色眼色呈现红砖色表型。第二个事件是由于Idefix拷贝插入到白眼基因转录起始位点上游1.7 kb处,将红砖色表型改变为橙色。这第二个突变事件在11个独立个体中作为一个反复出现的特异性突变被发现。第三个事件是由于在白眼上游1.7 kb处又有一个Idefix,它导致橙色表型完全恢复为红砖色。由于ZAM和Idefix在白眼基因座反复出现而导致的此类突变会产生如此多样的表型,这揭示了一个新的分子系统,在这个系统中可以测试移动元件对宿主基因正确表达的干扰。