Knust E, Bremer K A, Vässin H, Ziemer A, Tepass U, Campos-Ortega J A
Dev Biol. 1987 Jul;122(1):262-73. doi: 10.1016/0012-1606(87)90351-4.
Enhancer of split (E(spl)) is one of a group of so-called neurogenic genes of Drosophila. We describe two different types of E(spl) alleles, dominant and recessive, which exert opposite effects on both central and peripheral nervous system development. The only extant dominant allele determines a reduction in the number of central neurons and peripheral sensilla; this phenotype is not reduced by a normal complement of wild-type alleles. Since animals carrying a triploidy for the wild-type locus develop similar defects, the dominant allele is probably the result of a gain-of-function mutation. Several recessive alleles, obtained as revertants of the dominant allele, are loss-of-function mutations and determine considerable neural hyperplasia. The present evidence suggests that neural defects of E(spl) mutants are due to defective segregation of neural and epidermal lineages, leading to neural commitment of less or of more cells than in the wild type, depending upon whether the animals carry the dominant or any of the recessive alleles, respectively. Therefore, E(spl) formally behaves as a gene switching between neural and epidermal pathways.
分裂增强子(E(spl))是果蝇一组所谓的神经发生基因之一。我们描述了两种不同类型的E(spl)等位基因,显性和隐性,它们对中枢和外周神经系统发育产生相反的影响。唯一现存的显性等位基因导致中枢神经元和外周感觉器数量减少;野生型等位基因的正常互补不能减轻这种表型。由于携带野生型基因座三倍体的动物也会出现类似缺陷,显性等位基因可能是功能获得性突变的结果。作为显性等位基因回复体获得的几个隐性等位基因是功能丧失性突变,并导致明显的神经增生。目前的证据表明,E(spl)突变体的神经缺陷是由于神经和表皮谱系的分离缺陷,导致与野生型相比,分别根据动物携带显性或任何隐性等位基因,有更少或更多的细胞发生神经定向分化。因此,E(spl)在形式上表现为一个在神经和表皮途径之间切换的基因。