title: Isolation and chromosomal localization of two human CDP-diacylglycerol synthase (CDS) genes.
abstract: Phototransduction in Drosophila is a phosphoinositide-mediated signaling pathway. Phosphatidylinositol 4,5-bisphosphate (PIP2) plays a central role in this process, and its levels are tightly regulated. A photoreceptor-specific form of the enzyme CDP-diacylglycerol synthase (CDS), which catalyzes the formation of CDP-diacylglycerol from phosphatidic acid, is a key regulator of the amount of PIP2 available for signaling. cds mutants develop light-induced retinal degeneration. As part of a search for novel genes that may be involved in eye disease in human, using Drosophila phototransduction genes as a model system, two human CDP-diacylglycerol synthase genes (CDS1 and CDS2) were cloned and sequenced. Radiation hybrid panel mapping and fluorescence in situ hybridization were used to localize the genes to chromosomes 4q21 and 20p13. As yet, no known retinal diseases map to either of these regions.
authors.affiliation: Institute of Ophthalmology, University College London, Bath Street, London, EC1V 9EL, UK.
authors.forename: S
authors.initials: S
authors.lastname: Halford
authors.forename: K S
authors.initials: KS
authors.lastname: Dulai
authors.forename: S C
authors.initials: SC
authors.lastname: Daw
authors.forename: J
authors.initials: J
authors.lastname: Fitzgibbon
authors.forename: D M
authors.initials: DM
authors.lastname: Hunt
mesh_terms: D000595:Amino Acid Sequence; D001483:Base Sequence; D002874:Chromosome Mapping; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics*; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics*; D003001:Cloning, Molecular; D002798:Diacylglycerol Cholinephosphotransferase / Q000235:genetics*; D005128:Eye Diseases / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction / Q000379:methods
chemical_list: D002798:Diacylglycerol Cholinephosphotransferase