Laboratory of Genetics, University of Wisconsin, Madison, Wisconsin 53706.
Genetics. 1981 Jul;98(3):565-87. doi: 10.1093/genetics/98.3.565.
In its hypermutable state, an unstable singed allele, sn(w), mutates in the germline to two other alleleic forms at a total frequency usually between 40 and 60%. In its stable state, the mutation rate of sn(w) is essentially zero. Its state depends on an extrachromosomal condition indistinguishable from a property called cytotype previously studied as a component of hybrid dysgenesis. Of the two known systems of hybrid dysgenesis, denoted P-M and I-R, sn(w) hypermutability is determined by the P-M system and appears to be independent of the I-R system. Cytotype, as defined by the control of sn(w) mutability, is self-reproducing in the cytoplasm or nucleoplasm of the germline through at least two generations. However, it is not entirely autonomous, being ultimately determined by the chromosomes after sufficiently many generations of backcrossing. This combination of chromosomal and extrachromosomal transmission agrees well with previous studies on cytotype. Temperature differences have little effect on the mean mutation rates, but they have a pronounced effect on the intrinsic variance among individuals. The latter effect suggests that high temperatures reduce germ-cell survival during the development of dysgenic flies. Chromosomal rearrangements produce no apparent effects on the behavior of sn(w). Hypermutability is thought to be caused by the excision or other alteration of an inserted genetic element in the sn(w) gene. This element might be a copy of the "P factor," which is though to be a mobile sequence capable of causing female sterility and other dysgenic traits in the P-M system.
在其高度易变的状态下,不稳定的单等位基因 sn(w) 在生殖细胞中突变为另外两种等位基因形式,总频率通常在 40%至 60%之间。在其稳定状态下,sn(w) 的突变率基本上为零。它的状态取决于一种与先前作为杂种不育成分研究的称为细胞型的染色体外条件不可区分的条件。在两个已知的杂种不育系统 P-M 和 I-R 中,sn(w) 的高度易变性由 P-M 系统决定,并且似乎与 I-R 系统无关。细胞型由 sn(w) 突变率的控制来定义,通过至少两代的生殖细胞质或核质自我繁殖。然而,它不是完全自主的,在经过足够多的回交代后最终由染色体决定。这种染色体和染色体外传递的组合与先前对细胞型的研究非常吻合。温度差异对平均突变率影响不大,但对个体间的固有方差有明显影响。后一种影响表明,高温会降低杂种不育果蝇发育过程中的生殖细胞存活率。染色体重排对 sn(w) 的行为没有明显影响。高度易变性被认为是由插入 sn(w) 基因中的遗传元件的切除或其他改变引起的。该元件可能是“P 因子”的副本,P 因子被认为是一种可移动的序列,能够在 P-M 系统中引起雌性不育和其他杂种不育特征。