Collins M, Rubin G M
Cell. 1982 Aug;30(1):71-9. doi: 10.1016/0092-8674(82)90013-7.
The white locus in Drosophila is required for a normal brick-red eye color; deletions of this locus result in a bleached-white eye color. The white-crimson (wc) allele of white was isolated as a partial revertant of another mutant white allele, white-ivory (wi), a mutation due to duplication of sequences within the white locus. The wc allele reverts at high frequencies to wild-type and wi phenotypes and generates white-eyed derivatives, including deletions with one endpoint at the white locus. We analyzed the structure of the wc allele by molecular cloning and by Southern blot analysis of genomic DNA and found that the wc phenotype results from the insertion of a 10 kilobase DNA sequence into the wi duplication. Five independent phenotypic revertants of wc to wi were examined, and in each case reversion was accompanied by apparently precise excision of the insertion. Reversion of wc to a wild-type phenotype in each of the six cases examined was mediated by excision of both the insertion and one copy of the wi duplication, restoring gene structure to wild-type.
果蝇中的白色基因座对于正常的砖红色眼睛颜色是必需的;该基因座的缺失会导致眼睛颜色变为漂白后的白色。白色基因的白色-深红色(wc)等位基因是作为另一个突变的白色等位基因白色-象牙色(wi)的部分回复突变体分离出来的,白色-象牙色(wi)突变是由于白色基因座内序列的重复所致。wc等位基因以高频率回复到野生型和wi表型,并产生白眼衍生物,包括在白色基因座有一个端点的缺失。我们通过分子克隆和基因组DNA的Southern印迹分析来分析wc等位基因的结构,发现wc表型是由于一个10千碱基的DNA序列插入到wi重复序列中所致。对wc回复到wi的五个独立表型回复突变体进行了检查,在每种情况下,回复都伴随着插入序列的明显精确切除。在所检查的六个案例中,wc回复到野生型表型均由插入序列和wi重复序列的一个拷贝的切除介导,从而将基因结构恢复到野生型。