Hartenstein K, Sinha P, Mishra A, Schenkel H, Török I, Mechler B M
Department of Developmental Genetics, Deutsches Krebsforschungszentrum, Heidelberg, Federal Republic of Germany.
Genetics. 1997 Dec;147(4):1755-68. doi: 10.1093/genetics/147.4.1755.
A recessive semi-lethal mutation resulting from the insertion of a P-lacW transposon at the cytological position 23A on the polytene chromosomes of Drosophila melanogaster was found to affect the unfolding and expansion of the wings resulting in a loss of venation and a marked decrease in their size. Lethality was polyphasic with numerous animals dying during early larval development and displaying apparently collapsed tracheal trees. The gene was therefore designated as congested-like tracheae, or colt. The colt mutation resulted from the insertion of a P-lacW transposon within the coding region of a 1.4-kb transcript. Wild-type function was restored by inducing a precise excision of the P-lacW transposon, while a deletion of the colt locus, produced by imprecise excision of the P element, showed a phenotype similar to that of the original P insert. The colt gene consists of a single exon and encodes a protein of 306 amino acids made of three tandem repeats, each characterized by two predicted transmembrane segments and a loop domain. The COLT protein shares extensive homology with proteins in the mitochondrial carrier family and particularly with the DIF-1 protein of Caenorhabditis elegans, which has been shown to be maternally required for embryonic tissue differentiation. Our analysis revealed that zygotic colt function is dispensable for normal embryonic morphogenesis but is required for gas-filling of the tracheal system at hatching time of the embryo and for normal epithelial morphogenesis of the wings.
在黑腹果蝇多线染色体上细胞位置23A处插入P-lacW转座子导致的隐性半致死突变,被发现会影响翅膀的展开和扩展,导致翅脉缺失和翅膀尺寸显著减小。致死性是多相的,许多动物在幼虫早期发育期间死亡,并表现出明显塌陷的气管树。因此,该基因被命名为类充血气管(congested-like tracheae),简称colt。colt突变是由于P-lacW转座子插入到一个1.4 kb转录本的编码区域内所致。通过诱导P-lacW转座子的精确切除可恢复野生型功能,而由P元件的不精确切除产生的colt基因座缺失,则表现出与原始P插入相似的表型。colt基因由单个外显子组成,编码一个由306个氨基酸组成的蛋白质,该蛋白质由三个串联重复序列组成,每个重复序列的特征是有两个预测的跨膜区段和一个环结构域。COLT蛋白与线粒体载体家族中的蛋白质具有广泛的同源性,特别是与秀丽隐杆线虫的DIF-1蛋白同源,后者已被证明是胚胎组织分化所需的母体因子。我们的分析表明,合子colt功能对于正常的胚胎形态发生是可有可无的,但对于胚胎孵化时气管系统的气体填充以及翅膀的正常上皮形态发生是必需的。