Reynolds E R, O'Donnell J M
Department of Biological Sciences, Carnegie Mellon University, Pittsburgh, Pennsylvania 15213.
Genetics. 1988 Jul;119(3):609-17. doi: 10.1093/genetics/119.3.609.
The Punch locus of Drosophila melanogaster which encodes the pteridine biosynthetic enzyme, GTP cyclohydrolase, is genetically complex. Lethal alleles of the locus resolve into an array of interallelic complementation groups, and at least one class of mutations is developmentally specific, affecting GTP cyclohydrolase activity only in the heads of adults. All previously isolated Punch alleles were identified on the basis of a mutant eye color phenotype. By screening mutagenized chromosomes over Punch region deficiencies, we have now isolated new alleles on the basis of lethal and visible phenotypes. Most of these alleles fall into previously identified genetic classes, but two new classes of mutations were also found. One class contains two alleles that behave as dominant lethal mutations in some genetic backgrounds. The other class represents a second developmentally specific set of alleles that affect the function of the Punch locus only during embryogenesis.
果蝇黑腹果蝇中编码蝶啶生物合成酶GTP环化水解酶的Punch基因座在遗传上是复杂的。该基因座的致死等位基因可分解为一系列等位基因间互补组,并且至少一类突变具有发育特异性,仅在成年果蝇头部影响GTP环化水解酶活性。所有先前分离的Punch等位基因都是基于突变体眼色表型鉴定的。通过在Punch区域缺陷上筛选诱变染色体,我们现在基于致死和可见表型分离出了新的等位基因。这些等位基因中的大多数属于先前确定的遗传类别,但也发现了两类新的突变。一类包含两个等位基因,在某些遗传背景下表现为显性致死突变。另一类代表另一组发育特异性等位基因,仅在胚胎发生期间影响Punch基因座的功能。