Genetics, Vol 142, 1157-1168, Copyright © 1996


INVESTIGATIONS

Structure and Expression of Wild-Type and Suppressible Alleles of the Drosophila purple Gene

N. Kim, J. Kim, D. Park, C. Rosen, D. Dorsett and J. Yim
Department of Microbiology, College of Natural Sciences, Seoul National University, Seoul 151, Republic of Korea and Molecular Biology Program, Sloan-Kettering Institute for Cancer Research, Memorial Sloan-Kettering Cancer Center, New York, New York 10021

Viable mutant alleles of purple (pr), such as pr(bw), exhibit mutant eye colors. This reflects low 6-pyruvoyl tetrahydropterin (PTP) synthase activity required for pigment synthesis. PTP synthase is also required for synthesis of the enzyme cofactor biopterin; presumably this is why some pr alleles are lethal. The pr(bw) eye color phenotype is suppressed by suppressor of sable [su(s)] mutations. The pr gene was cloned to explore the mechanism of this suppression. pr produces two PTP synthase mRNAs: one constitutively from a distal promoter and one in late pupae and young adult heads from a proximal promoter. The latter presumably supports eye pigment synthesis. The pr(bw) allele has a 412 retrotransposon in an intron spliced from both mRNAs. However, the head-specific mRNA is reduced >10-fold in pr(bw) and is restored by a su(s) mutation, while the constitutive transcript is barely affected. The Su(s) protein probably alters processing of RNA containing 412. Because the intron containing 412 is the first in the head-specific mRNA and the second in the constitutive mRNA, binding of splicing machinery to nascent transcripts before the 412 insertion is transcribed may preclude the effects of Su(s) protein.


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