The sequence of the human phosducin gene (PDC) and its 5'-flanking region.
Phosducin, a principal protein of the retinal photoreceptor cells, modulates the phototransduction cascade by interacting with transducin. Recently, it has been reported that phosducin is a protein virtually identical to the G-protein inhibitor protein (GIP) in brain. Here, we have sequenced the complete human gene (PDC) and 2215 bp of its 5'-flanking region. The gene is 18 kb in length and has four exons and three introns. The splicing sites for donor and acceptor are in good agreement with the GT/AG rule. Comparative studies of human and mouse phosducin revealed highly homologous sequences. Both the human phosducin gene and a mutant gene locus for Usher syndrome type II have been assigned to chromosome 1q25-q32. The association of this gene with a human disease locus suggests that phosducin may be a potential candidate gene for this disorder.
Abe
T
T
Laboratory of Retinal Cell and Molecular Biology, National Eye Institute, National Institutes of Health, Bethesda, Maryland.
Kikuchi
T
T
Shinohara
T
T
D000818:Animals; D001483:Base Sequence; D002878:Chromosomes, Human, Pair 1; D003638:Deafness / Q000235:genetics; D005136:Eye Proteins / Q000235:genetics*; D020555:GTP-Binding Protein Regulators; D005796:Genes; D006801:Humans; D051379:Mice / Q000235:genetics; D008969:Molecular Sequence Data; D010750:Phosphoproteins / Q000235:genetics*; D012174:Retinitis Pigmentosa / Q000235:genetics; D012689:Sequence Homology, Nucleic Acid; D013045:Species Specificity; D013577:Syndrome
D005136:Eye Proteins; D020555:GTP-Binding Protein Regulators; D010750:Phosphoproteins; C065631:phosducin