Mackay W J, Reynolds E R, O'Donnell J M
Genetics. 1985 Dec;111(4):885-904. doi: 10.1093/genetics/111.4.885.
Mutations in the Punch locus result in loss of GTP cyclohydrolase activity, but all mutations do not affect the enzyme in the same way. There are at least three classes of Punch mutations. One class results in a dominant eye color, recessive lethal phenotype. A second class of mutations also causes a recessive lethal phenotype, but heterozygous mutants have normal eye color. They show loss of GTP cyclohydrolase function in all tissues where activity can be measured. Alleles comprising a third class are recessive eye color mutations that are homozygous viable. Individuals with this third type of mutation show loss of enzyme activity in the eye, but show normal or near-normal activity elsewhere. In order to examine the organization and function of this locus further, we have performed interallelic complementation tests on 25 Punch mutations, monitoring viability and enzyme activity in prepupae and adults. Most allele combinations are lethal. Those that complement do so in ways that are tissue-or stage-specific and unpredictable. Tests of mutants with tissue-specific phenotypes and of individuals mutant for complementing Punch lethal alleles lead us to conclude that Punch is a complex locus, both with respect to its organization and to its products.
Punch基因座的突变会导致GTP环化水解酶活性丧失,但并非所有突变对该酶的影响方式都相同。Punch突变至少有三类。一类导致显性眼色、隐性致死表型。第二类突变也会导致隐性致死表型,但杂合突变体具有正常眼色。在所有可测量活性的组织中,它们都表现出GTP环化水解酶功能丧失。构成第三类的等位基因是隐性眼色突变,纯合子可存活。具有这种第三类突变的个体在眼中表现出酶活性丧失,但在其他部位表现出正常或接近正常的活性。为了进一步研究该基因座的结构和功能,我们对25个Punch突变进行了等位基因间互补测试,监测了预蛹和成虫的活力和酶活性。大多数等位基因组合是致死的。那些互补的组合是以组织或阶段特异性且不可预测的方式进行的。对具有组织特异性表型的突变体和互补Punch致死等位基因的突变个体的测试使我们得出结论,Punch在其结构和产物方面都是一个复杂的基因座。