Raymond J D, Simmons M J
Genetics. 1981 Jun;98(2):291-302. doi: 10.1093/genetics/98.2.291.
The behavior of an unstable allele of the singed-bristle locus on the X chromosome was studied in connection with the occurrence of lethal mutations on that same chromosome. The unstable allele, weak singed (snw), is under the control of the P-M system of hybrid dysgenesis and, in the M cytotype, mutates secondarily to extreme singed (sne) and to wild type (sn+) at high rates. Chromosomes whose snw allele had mutated in this fashion sustained lethal mutations at a rate of 3%; whereas, those whose snw allele had apparently remained unchanged, acquired lethals at a lower rate, 1.3%. The significant difference between these values indicates a statistical coincidence between the phenomena of snw instability and X-linked lethal mutation induction. This coincidence can be explained by postulating that mutations at the singed locus sometimes release a genetic element capable of reinserting elsewhere in the chromosome. Alternately, snw instability and lethal induction might be associated because they are the effects of a common cause, perhaps some mutation-inducing substance present in various amounts in the germ cells of dysgenic flies. The lethals that occurred on chromosomes whose snw allele had mutated to sne mapped preferentially close to singed. The lethals on the snw and sn+ chromosomes did not show this concentration on the map. Cytological analysis of samples of all three types of lethal chromosomes indicated that, with one exception, there was no detectable breakage at the singed locus itself. The single instance of breakage at singed was not associated with any change in the singed phenotype. Thus, the instability of snw apparently does not involve detectable breakage of the singed locus, or if it does, this breakage is not a common event.
对X染色体上焦刚毛基因座的一个不稳定等位基因的行为进行了研究,该研究与同一染色体上致死突变的发生有关。不稳定等位基因,即弱焦刚毛(snw),受杂种不育的P-M系统控制,在M细胞型中,会以高频率继发突变为极焦刚毛(sne)和野生型(sn+)。其snw等位基因以这种方式发生突变的染色体,致死突变率为3%;而那些snw等位基因显然未发生变化的染色体,致死突变率较低,为1.3%。这些数值之间的显著差异表明,snw不稳定性现象与X连锁致死突变诱导之间存在统计学上的巧合。这种巧合可以通过假设焦刚毛基因座的突变有时会释放一种能够重新插入染色体其他位置的遗传元件来解释。或者,snw不稳定性和致死诱导可能有关联,因为它们是一个共同原因的结果,也许是在不育果蝇生殖细胞中存在不同数量的某种诱变物质。在其snw等位基因已突变为sne的染色体上发生的致死突变,在图谱上优先定位在靠近焦刚毛的位置。snw和sn+染色体上的致死突变在图谱上并未显示出这种集中分布。对所有三种类型致死染色体样本的细胞学分析表明,除了一个例外,在焦刚毛基因座本身未检测到断裂。在焦刚毛处的唯一一次断裂实例与焦刚毛表型的任何变化均无关联。因此,snw的不稳定性显然不涉及焦刚毛基因座可检测到的断裂,或者即便涉及,这种断裂也并非常见事件。