Williams J A, Atkin A L, Bell J B
Department of Genetics, University of Alberta, Edmonton, Canada.
Mol Gen Genet. 1990 Mar;221(1):8-16. doi: 10.1007/BF00280361.
Vestigial mutants are associated with imaginal disc cell death which results in the deletion of adult wing and haltere structures. The vestigial locus has previously been cloned, and mutational lesions associated with a number of vg alleles were mapped within a 19 kb DNA region defined as essential for vg function. Herein we report the identification and characterization of a developmentally regulated 3.8 kb vg transcript which is spliced from exons distributed throughout the essential interval defined above. All the characterized classical alleles have predictable effects on this transcription unit, and the severity of this effect is directly proportional to the severity of the wing phenotype. A repetitive domain within this transcription unit was identified and may serve as a tag to isolate other genes with functions related to vg. We also report an exceptional vg allele (vg83b27) that produces an extreme wing and haltere phenotype, but which defines a second vg complementation unit. This allele is associated with a 4 kb deletion entirely within a 4.5 kb vg intron as defined by the 3.8 kb transcription unit. Molecular and genetic evidence indicates that the vg83b27 mutation has a functional 3.8 kb transcription unit, thus accounting for its ability to complement classical alleles. The results indicate that sequences within a vg intron are essential for normal wing and haltere development.
残迹突变体与成虫盘细胞死亡相关,这导致成虫翅膀和平衡棒结构缺失。残迹基因座先前已被克隆,与多个vg等位基因相关的突变损伤被定位在一个19 kb的DNA区域内,该区域被定义为vg功能所必需的区域。在此,我们报告了一种发育调控的3.8 kb vg转录本的鉴定和特征,该转录本是从分布在上述必需区间的外显子剪接而来的。所有已鉴定的经典等位基因对这个转录单元都有可预测的影响,并且这种影响的严重程度与翅膀表型的严重程度直接相关。在这个转录单元内鉴定出一个重复结构域,它可能作为一个标签来分离其他与vg功能相关的基因。我们还报告了一个特殊的vg等位基因(vg83b27),它产生极端的翅膀和平衡棒表型,但定义了第二个vg互补单元。这个等位基因与一个4 kb的缺失相关,该缺失完全位于由3.8 kb转录单元定义的4.5 kb vg内含子内。分子和遗传证据表明,vg83b27突变具有一个功能性的3.8 kb转录单元,因此解释了它互补经典等位基因的能力。结果表明,vg内含子内的序列对于正常的翅膀和平衡棒发育至关重要。