Laughon A, Boulet A M, Bermingham J R, Laymon R A, Scott M P
Mol Cell Biol. 1986 Dec;6(12):4676-89. doi: 10.1128/mcb.6.12.4676-4689.1986.
The Antennapedia (Antp) homeotic gene of Drosophila melanogaster regulates segmental identity in the thorax. Loss of Antp function results in altered development of the embryonic thoracic segments or can cause legs to be transformed into antennae. Certain combinations of Antp recessive lethal alleles complement to permit normal development. The structure of the Antp gene, analyzed by sequencing cDNA clones and exons and by transcript mapping, revealed some of the basis for its genetic complexity. It has two promoters governing two nested transcription units, one unit 36 and one 103 kilobase pairs (kb) long. Both units incorporated the same protein-coding exons, all of which are located in the 3'-most 13 kb of the gene. The two promoters resulted in the attachment of either of two long noncoding leader sequences (1.5 and 1.7 kb) to a 1.1-kb open reading frame. Both transcription units used the same pair of alternative polyadenylation sites 1.4 kb apart; the choice of sites was developmentally regulated. Some of the mutations that disrupt the larger transcription unit complemented a mutation affecting the smaller one. Dominant mutations that transform antennae into legs split the gene but left the coding exons intact. The encoded protein has unusually long runs of glutamine and a homeodomain near the C terminus.
果蝇的触角足(Antp)同源异型基因调控胸部的节段特征。Antp功能丧失会导致胚胎胸部节段发育改变,或使腿转变为触角。某些Antp隐性致死等位基因的组合互补,从而允许正常发育。通过对cDNA克隆和外显子进行测序以及转录图谱分析,Antp基因的结构揭示了其遗传复杂性的部分基础。它有两个启动子,控制两个嵌套的转录单元,一个单元长36千碱基对(kb),另一个长103 kb。两个单元都包含相同的蛋白质编码外显子,所有这些外显子都位于基因最3'端的13 kb区域内。这两个启动子导致两个长的非编码前导序列(1.5 kb和1.7 kb)之一连接到一个1.1 kb的开放阅读框。两个转录单元都使用同一对相距1.4 kb的可变聚腺苷酸化位点;位点的选择受发育调控。一些破坏较大转录单元的突变与影响较小转录单元的突变互补。将触角转变为腿的显性突变使基因断裂,但编码外显子保持完整。编码的蛋白质有异常长的谷氨酰胺序列,并且在C末端附近有一个同源异型结构域。