Ortori C A, Chambers D, Brookfield J F
Department of Genetics, University of Nottingham, Queens Medical Centre, UK.
Genet Res. 1994 Feb;63(1):19-26. doi: 10.1017/s0016672300032043.
The singed(very weak) mutation was created by the sequential addition of two P transposable elements to the singed gene. The mutation can be somatically unstable through the action of a dominant maternal effect mutation on the second chromosome. It is also unstable in the germ line in these conditions. Sequencing of the region of the P insertions in the mutation reveals that the two inserted elements have single internal deletions, and the larger of the two is a copy of the KP element. The mutation will generate, at high frequencies, strongly singed and pseudo-wild type products by reversions occurred in the germline. These are the result of the precise excision of the smaller and the larger elements respectively. By PCR amplification of dissected thoraces we show that the somatic instability of the mutation, from a weak to a strong singed phenotype, is also caused by the excision of the smaller of the two elements.
烧焦(非常弱)突变是通过向烧焦基因依次添加两个P转座因子而产生的。通过第二条染色体上显性母性效应突变的作用,该突变在体细胞中可能不稳定。在这些条件下,它在生殖系中也不稳定。对突变中P插入区域的测序表明,两个插入的元件有单个内部缺失,且两个元件中较大的一个是KP元件的拷贝。该突变将在生殖系中通过回复突变以高频率产生强烧焦和假野生型产物。这些分别是较小和较大元件精确切除的结果。通过对解剖胸部的PCR扩增,我们表明该突变从弱烧焦表型到强烧焦表型的体细胞不稳定性也是由两个元件中较小的那个的切除引起的。