title: Gene structure and chromosome localization of the G gamma c subunit of human cone G-protein (GNGT2).
abstract: Phototransduction in the vertebrate rod and cone photoreceptors is regulated by structurally homologous and yet distinct groups of signaling proteins. We have previously identified in bovine retinas a cone-specific G-protein gamma subunit (G gamma c, previously named G gamma b), which may play a key role in coupling the cone visual pigment to phosphodiesterase (O. C. Ong et al., 1995, J. Biol. Chem. 270:8495-8500). We report here the characterization of human G gamma c and its gene structure. Human G gamma c subunit shares a high degree of sequence identity with the corresponding bovine G gamma c isoform (85%) and human rod G gamma 1 (63%). The protein is specifically localized in cones, as indicated by immunohistochemical staining using anti-G gamma c antibodies. Nucleotide sequence analysis of the G gamma c gene (GNGT2) reveals a structure consisting of three exons and two introns, with the intron splice sites similar to that of the rod G gamma 1 gene (GNGT1). By using fluorescence in situ hybridization, we have further localized the human GNGT2 gene to chromosome 17q21. The elucidation of the G gamma c gene structure would facilitate the identification of genetic defects associated with cone degeneration.
authors.affiliation: Jules Stein Eye Institute, Department of Molecular and Medical Pharmacology, University of California at Los Angeles School of Medicine 90095, USA.
authors.forename: O C
authors.initials: OC
authors.lastname: Ong
authors.forename: K
authors.initials: K
authors.lastname: Hu
authors.forename: H
authors.initials: H
authors.lastname: Rong
authors.forename: R H
authors.initials: RH
authors.lastname: Lee
authors.forename: B K
authors.initials: BK
authors.lastname: Fung
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D015152:Blotting, Northern; D015153:Blotting, Western; D002417:Cattle; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D003001:Cloning, Molecular; D019204:GTP-Binding Proteins / Q000737:chemistry / Q000235:genetics*; D006801:Humans; D007150:Immunohistochemistry; D017404:In Situ Hybridization, Fluorescence; D008969:Molecular Sequence Data; D012333:RNA, Messenger / Q000235:genetics / Q000378:metabolism; D015183:Restriction Mapping; D017949:Retinal Cone Photoreceptor Cells / Q000737:chemistry*; D017422:Sequence Analysis, DNA; D017386:Sequence Homology, Amino Acid
chemical_list: D012333:RNA, Messenger; D019204:GTP-Binding Proteins