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. (C) 1994 Academic Press, Inc.