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Publication : Gene structure and chromosome localization of the G gamma c subunit of human cone G-protein (GNGT2).

First Author  Ong OC Year  1997
Journal  Genomics Volume  44
Issue  1 Pages  101-9
PubMed ID  9286705 Mgi Jnum  J:59603
Mgi Id  MGI:1351957 Doi  10.1006/geno.1997.4814
Citation  Ong OC, et al. (1997) Gene structure and chromosome localization of the G gamma c subunit of human cone G-protein (GNGT2). Genomics 44(1):101-9
abstractText  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.
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