title: Molecular characterization and mapping of canine cGMP-phosphodiesterase delta subunit (PDE6D).
abstract: cGMP-phosphodiesterase (PDE) is composed of two catalytic (alpha and beta) and two identical inhibitory (gamma) subunits. The human gene (PDE6D) encoding a new subunit (delta) has been characterized and mapped to the long arm of chromosome 2 (HSA2q35-q36) where a new autosomal recessive retinitis pigmentosa (arRP) locus (RP26) has been localized. Characterization of the canine PDE6D shows the gene is about 4.2kb containing four exons interrupted by three introns; the size of the cDNA is 1059bp with an open reading frame (ORF) of 453bp. A single transcript of identical size (1.43kb) was detected in all tissues examined (liver, lung, spleen, kidney, heart, brain and retina), with the highest abundance in the retina. Canine PDE6D has been localized to canine radiation hybrid group 14-a, which extends conserved synteny between the dog, human chromosome 2q and mouse chromosome 1. The characterization of the canine PDE6D gene and its mapping provide important information for testing causal association of the gene with canine retinal degenerations, in particular rod-cone dysplasia 2 (rcd2) in collie dogs. This disease is characterized by abnormal retinal cGMP metabolism due to a deficiency in cGMP-PDE activity, yet the alpha, beta and gamma subunits of PDE have been excluded as candidate gene loci.
authors.affiliation: The James A. Baker Institute for Animal Health, College of Veterinary Medicine, Cornell University, Ithaca, NY 14853, USA.
authors.forename: W
authors.initials: W
authors.lastname: Wang
authors.forename: Q
authors.initials: Q
authors.lastname: Zhang
authors.forename: G M
authors.initials: GM
authors.lastname: Acland
authors.forename: C
authors.initials: C
authors.lastname: Mellersh
authors.forename: E A
authors.initials: EA
authors.lastname: Ostrander
authors.forename: K
authors.initials: K
authors.lastname: Ray
authors.forename: G D
authors.initials: GD
authors.lastname: Aguirre
mesh_terms: D015106:3',5'-Cyclic-GMP Phosphodiesterases / Q000235:genetics*; D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D015152:Blotting, Northern; D002460:Cell Line; D002874:Chromosome Mapping; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6; D018076:DNA, Complementary / Q000032:analysis; D004285:Dogs / Q000235:genetics*; D005136:Eye Proteins / Q000235:genetics*; D015870:Gene Expression; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D051379:Mice; D018895:Microsatellite Repeats; D008957:Models, Genetic; D008969:Molecular Sequence Data; D020161:Physical Chromosome Mapping; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014018:Tissue Distribution
chemical_list: D018076:DNA, Complementary; D005136:Eye Proteins; C517432:PDE6D protein, human; D015106:3',5'-Cyclic-GMP Phosphodiesterases; D054707:Cyclic Nucleotide Phosphodiesterases, Type 6; C517431:PDE6B protein, human; C517438:Pde6b protein, mouse