Portin P
Genetics. 1975 Sep;81(1):121-33. doi: 10.1093/genetics/81.1.121.
The mutations of the Abruptex locus in Drosophila melanogaster fall into three categories. There are recessive lethal alleles and viable alleles. The latter can be divided into suppressors and nonsuppressors of Notch mutations. The recessive lethals are lethal in heterozygous combination with Notch. As a rule the recessive lethals are lethal also in heterozygous combination with the viable alleles. Heterozygous combinations of certain viable alleles are also lethal. In such heterozygotes, one heteroallele is a suppressor of Notch and the other is a nonsuppressor. Other heterozygous combinations of viable alleles are viable and have an Abruptex phenotype. The insertion of the wild allele of the Abruptex locus as an extra dose (carried by a duplication) into the chromosomal complement of the fly fully restores the viability of the otherwise lethal heterozygotes if two viable alleles are involved. The extra wild allele also restores the viability of heterozygotes in which a lethal and a suppressor allele are present. If, however, a lethal and a nonsuppressor are involved, the wild allele only partly restores the viability, and the effect of the wild allele is weakest if two lethal alleles are involved. It seems likely that of the viable alleles the suppressors of Notch are hypermorphic and the nonsuppressors are hypomorphic. The lethal alleles share properties of both types, and are possibly antimorphic mutations. It is suggested that the locus is responsible for a single function which, however, consists of two components. The hypermorphic mutations are defects of the one component and the hypomorphic mutations of the other. In heterozygotes their cumulative action leads to decreased viability. The lethal alleles are supposed to be defects of the function as a whole. The function controlled by the locus might be a regulative function.
黑腹果蝇中Abruptex位点的突变可分为三类。有隐性致死等位基因和存活等位基因。后者可分为Notch突变的抑制子和非抑制子。隐性致死基因与Notch杂合时致死。通常,隐性致死基因与存活等位基因杂合时也致死。某些存活等位基因的杂合组合也致死。在这种杂合子中,一个异等位基因是Notch的抑制子,另一个是非抑制子。存活等位基因的其他杂合组合是存活的,并具有Abruptex表型。如果涉及两个存活等位基因,将Abruptex位点的野生等位基因作为额外剂量(由重复携带)插入果蝇的染色体组中,可完全恢复原本致死的杂合子的活力。额外的野生等位基因也能恢复存在致死等位基因和抑制子等位基因的杂合子的活力。然而,如果涉及一个致死等位基因和一个非抑制子,野生等位基因只能部分恢复活力,而如果涉及两个致死等位基因,野生等位基因的作用最弱。存活等位基因中,Notch的抑制子可能是超形态的,而非抑制子可能是亚形态的。致死等位基因兼具这两种类型的特性,可能是反形态突变。有人认为该位点负责单一功能,然而该功能由两个成分组成。超形态突变是一个成分的缺陷,亚形态突变是另一个成分的缺陷。在杂合子中,它们的累积作用导致活力下降。致死等位基因被认为是整个功能的缺陷。该位点控制的功能可能是一种调节功能。