Reference Report

Reference
Citation	O'Donnell, J.M., McLean, J.R., Reynolds, E.R. (1989). Molecular and developmental genetics of the Punch locus, a pterin biosynthesis gene in Drosophila melanogaster. Dev. Genet. 10: 273--286. (Export to RIS)
FlyBase ID	FBrf0049526
Publication Type	Research paper
PubMed ID	2500290
PubMed Abstract	Punch (Pu), the gene encoding the pterin biosynthetic enzyme GTP cyclohydrolase in Drosophila, is a complex locus. Mutations fall into several complementation classes that correspond to classes of mutants with distinct morphological and protein phenotypes. Two of these classes are developmentally specific, with mutants in each having defects in discrete subsets of the known functions of the locus. Defined functions of the locus include a role in embryonic nuclear divisions using initially a maternal Pu product, the synthesis of pterin cofactors that are required for catecholamine biosynthesis beginning in late embryogenesis, and the production of pterin-screening pigments in the developing adult eye. Mutant phenotypes include an interruption in synchronous nuclear divisions in precellular blastoderm embryos, a segment pattern phenotype in late embryos, failure to pigment and cross-link embryonic cuticular structures and failure to synthesize red eye pigments. Molecular analysis reveals that the locus is large, a minimum of 29 kb as defined by Southern mapping of Pu mutants. This region is transcriptionally extremely active, encoding at least 16 developmentally regulated transcripts. One transcript has been shown to be responsible for the production of the adult eye GTP cyclohydrolase on the basis of developmental profile, location with respect to the mapping of eye-specific Pu mutants, absence in eye-specific mutants, and hybrid-selection in vitro translation experiments. Several other transcripts are candidates for Pu vital functions, as suggested by their pattern of expression and their derivation from regions to which lethal Pu mutations map.
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Language of Publication	English
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Publication Type	Journal
Abbreviation	Dev. Genet.
Title	Developmental Genetics
Publication Year	1979-1999
ISBN/ISSN	0192-253X
Data from Reference
Aberrations (9)
	Df(2R)F36 Df(2R)K11 Df(2R)MP1 Df(2R)PI12 Df(2R)PK1 In(2LR)Pu^Ly In(2R)Pu^r1 T(2;3)Pu^H16 T(2;3)Pu^W
Alleles (53)
	Pu^E18A Pu^H16 Pu^K5-2 Pu^Ly Pu^PD16 Pu^r1 Pu^r331 Pu^rAA1 Pu^rAA4 Pu^rAA17 Pu^rFAMI-2 Pu^rhd17 Pu^rI9 Pu^rJ35 Pu^rK8-2 Pu^rP1 Pu^rP11 Pu^rP21 Pu^rP30 Pu^rP42 Pu^rP43 Pu^rPF7 Pu^rPF12 Pu^rPH30 Pu^rPJ15 Pu^rS47 Pu^rSH8 Pu^rTR1 Pu^rTR3 Pu^rTR7 Pu^rV3 Pu^rV9 Pu^rV14 Pu^rV15 Pu^rW10 Pu^rWE67 Pu^rWE75 Pu^rWM1 Pu^rWM2 Pu^rWM3 Pu^rWM4 Pu^rWM5 Pu^rWM6 Pu^rWM7 Pu^rX17 Pu^rX25 Pu^rZ2 Pu^rZ8 Pu^rZ19 Pu^rZ22 Pu^SHC Pu^TR6 Pu^W
Genes (16)
	anon-57Cb anon-57Cc anon-57Cd anon-57Ce anon-57Cf anon-57Cg anon-57Ch anon-57Ci anon-57Cj anon-57Ck anon-57Cl l(2)57Cc l(2)57Cd Mst57Ca Pu tud