An analysis of the embryonic defects in Punch mutants of Drosophila melanogaster

Punch (Pu), a complex genetic locus, encodes GTP cyclohydrolase, the first enzyme in the pteridine biosynthetic pathway. In the larval and adult stages of the Drosophila life cycle, the function of the locus can be monitored by enzyme assays. Although enzyme activity cannot be detected prior to larval stages, the locus must also have earlier functions since most homozygous Pu mutants die during embryogenesis. In order to assess the role of the locus during this stage of development, morphological examinations of embryos from different classes of Pu mutants were performed. An exact correspondence has been found between genetic and morphological classes of Pu mutations. The locus is required during two periods of embryogenesis. These requirements are genetically separable as shown by mutants with defects specific to each period. An early function utilizes both maternal and zygotic components. Mutants defective for these components have abnormal segment patterns. Late in embryogenesis, a Pu product is necessary for the proper pigmentation of larval cuticle and proper orientation and differentiation of other larval structures, particularly in the head region. A cold-sensitive period corresponds to this later function as determined by temperature-shift experiments. Some of the phenotypes observed correspond to known physiological roles of pteridines; others are unexpected and unexplained.