Abstract
Three high-glucose-6-phosphate dehydrogenase (G6PD)-activity mutants (2512H, S44H, and 1FH) are characterized by two insertion sequences associated with the G6PD locus; one (Ins1; 3.5 kb long in 2512H and S44H and 2.9 kb long in 1FH) is present just 5' to exon I and consists of a KP' (the 32nd base of the KP was replaced by guanine), a core sequence and a KP, and the other is 4.2 kb long and resides within an intron. Southern blot analyses of revertants showing low G6PD activity suggested that the insertion sequence responsible for high G6PD activity may be the core sequence but not the flanking KP and KP' or the Ins2. DNA sequencing data of the clone carrying the core sequence of 2512H demonstrated that the core sequence is another type of defective P elements (core P). Interestingly, a protein(s) was found in the nuclear extract of Canton S embryos that specifically binds to the core P but not to the KP or various fragments of p pi 25.1. In addition, the mutant G6PD activity was found to be affected not only by the genotype, but also by cytoplasmic factors.
