GNAT2

Summary

Gene Symbol: GNAT2
Description: guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 2
Alias: ACHM4, GNATC, cone-type transducin alpha subunit, guanine nucleotide-binding protein G(t) subunit alpha-2, transducin alpha-2 chain, transducin, cone-specific, alpha polypeptide
Species: human

Top Publications

  1. doi Molecular evolutionary analysis of vertebrate transducins: a role for amino Acid variation in photoreceptor deactivation
    Yi G Lin
    Department of Ecology and Evolutionary Biology, University of Toronto, Toronto, Canada
    J Mol Evol 77:231-45. 2013
  2. ncbi Scotopic and photopic visual thresholds and spatial and temporal discrimination evaluated by behavior of mice in a water maze
    Janaki Nathan
    Department of Biochemistry, University of Washington, Seattle, WA, USA
    Photochem Photobiol 82:1489-94. 2006
  3. pmc Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2)
    M Michaelides
    Institute of Ophthalmology, University College London, 11 43 Bath Street, London EC1V 9EV, UK
    Br J Ophthalmol 87:1317-20. 2003
  4. ncbi G protein coupling profile of mGluR6 and expression of G alpha proteins in retinal ON bipolar cells
    Liantian Tian
    Department of Biomedical Sciences, Kent State University, Rootstown, Ohio, USA
    Vis Neurosci 23:909-16. 2006
  5. ncbi Chinese hamster transducin gene (GNAT2): genomic organization and peptide conservation
    B Baron
    Unité de Génétique Somatique, Département d immunologie de l Institut Pasteur LA CNRS n degrees 1960, Paris, France
    Mamm Genome 7:922-3. 1996
  6. doi Expansion of transducin subunit gene families in early vertebrate tetraploidizations
    David Lagman
    Department of Neuroscience, Science for Life Laboratory, Uppsala University, Box 593, SE 751 24 Uppsala, Sweden
    Genomics 100:203-11. 2012
  7. pmc Pineal photoreceptor cells are required for maintaining the circadian rhythms of behavioral visual sensitivity in zebrafish
    Xinle Li
    Department of Biological Sciences, Center for Zebrafish Research, University of Notre Dame, Notre Dame, Indiana, United States of America
    PLoS ONE 7:e40508. 2012
  8. pmc A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia
    Susanne Kohl
    Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, 72076 Tuebingen, Germany
    Am J Hum Genet 91:527-32. 2012
  9. doi Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture
    Sonja I Berndt
    US Department of Health and Human Services, Division of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health, Bethesda, Maryland, USA
    Nat Genet 45:501-12. 2013
  10. doi A naturally occurring mouse model of achromatopsia: characterization of the mutation in cone transducin and subsequent retinal phenotype
    Andrew I Jobling
    Department of Anatomy and Neuroscience, The University of Melbourne, Parkville, Victoria, Australia
    Invest Ophthalmol Vis Sci 54:3350-9. 2013

Scientific Experts

  • P J DeMarco
  • S Kohl
  • Bo Chang
  • David Lagman
  • Thomas Rosenberg
  • Corinne Kostic
  • Frank Naarendorp
  • T M Brown
  • Anne Caroline Wiik
  • Xi Qin Ding
  • Ji Jing Pang
  • U Kellner
  • F Toledo
  • Steven Nusinowitz
  • Qin Liu
  • Wen tao Deng
  • Neena B Haider
  • Mark Emerson
  • John J Alexander
  • Yumiko Umino
  • Andrew I Jobling
  • Yi G Lin
  • Lance Doucette
  • Ross F Collery
  • Sonja I Berndt
  • Xinle Li
  • Jin Yang
  • Xu feng Dai
  • Farah Ouechtati
  • Yanbin V Wang
  • J Shi
  • C K Chen
  • Mette K G Andersen
  • Annette E Allen
  • Shay Reicher
  • M Michaelides
  • Alberta A H J Thiadens
  • I A Aligianis
  • Yachna Ahuja
  • Robert B Barlow
  • William W Hauswirth
  • Junping Chen
  • Wojciech Wiszniewski
  • Janaki Nathan
  • Liantian Tian
  • Lee S Weinstein
  • William M Oldham
  • Satoshi Goto-Omoto
  • Koji M Nishiguchi
  • Shao Ling Fong
  • Ana Luisa Pina
  • D M Hunt
  • E R Maher
  • A T Moore
  • Zoltan Kutalik
  • Veronique Vitart
  • Thomas W Winkler
  • Marjo Riitta Jarvelin
  • Jaana Lindström
  • Bruce H R Wolffenbuttel
  • Michael Stumvoll
  • Sirkka M Keinänen-Kiukaanniemi
  • Albert Hofman
  • Marcel Bruinenberg
  • Marja Liisa Lokki
  • Jaakko Tuomilehto
  • Stefano Signorini
  • Andrew C Heath
  • Cornelia M van Duijn
  • Albert Vernon Smith
  • Chris Power
  • Joyce B J van Meurs
  • Paul W Franks
  • Devin Absher
  • Anne U Jackson
  • Martin den Heijer
  • Unnur Thorsteinsdottir
  • Carolina Medina-Gómez
  • Gemma Cadby
  • Marjolein J Peters
  • Ben A Oostra
  • Andrew Wong
  • Andrew D Morris
  • Nicholas J Wareham
  • John M Connell
  • Folkert W Asselbergs
  • Jonathan C Stephens
  • Sarah H Wild
  • Sekar Kathiresan
  • David Schlessinger

Detail Information

Publications70

  1. doi Molecular evolutionary analysis of vertebrate transducins: a role for amino Acid variation in photoreceptor deactivation
    Yi G Lin
    Department of Ecology and Evolutionary Biology, University of Toronto, Toronto, Canada
    J Mol Evol 77:231-45. 2013
    ..Here, we used codon models to examine patterns of sequence evolution in rod (GNAT1) and cone (GNAT2) α subunits...
  2. ncbi Scotopic and photopic visual thresholds and spatial and temporal discrimination evaluated by behavior of mice in a water maze
    Janaki Nathan
    Department of Biochemistry, University of Washington, Seattle, WA, USA
    Photochem Photobiol 82:1489-94. 2006
    ..In this report we describe the sensitivities of rod-mediated and cone-mediated vision using GNAT1-/-and GNAT2-/- mice. Cone-mediated vision is approximately 10,000 times less sensitive than rod-mediated vision in mice...
  3. pmc Cone dystrophy phenotype associated with a frameshift mutation (M280fsX291) in the alpha-subunit of cone specific transducin (GNAT2)
    M Michaelides
    Institute of Ophthalmology, University College London, 11 43 Bath Street, London EC1V 9EV, UK
    Br J Ophthalmol 87:1317-20. 2003
    To describe the phenotype of a three generation consanguineous Pakistani family containing six individuals with autosomal recessive cone dystrophy caused by mutation in GNAT2.
  4. ncbi G protein coupling profile of mGluR6 and expression of G alpha proteins in retinal ON bipolar cells
    Liantian Tian
    Department of Biomedical Sciences, Kent State University, Rootstown, Ohio, USA
    Vis Neurosci 23:909-16. 2006
    ..G(i2), G(i3), whereas no coupling was observed with G alpha(z), nor with the retinal G alpha proteins, rod (GNAT2) or cone (GNAT1) transducin (G alpha(Tr-R), G alpha(Tr-C))...
  5. ncbi Chinese hamster transducin gene (GNAT2): genomic organization and peptide conservation
    B Baron
    Unité de Génétique Somatique, Département d immunologie de l Institut Pasteur LA CNRS n degrees 1960, Paris, France
    Mamm Genome 7:922-3. 1996
  6. doi Expansion of transducin subunit gene families in early vertebrate tetraploidizations
    David Lagman
    Department of Neuroscience, Science for Life Laboratory, Uppsala University, Box 593, SE 751 24 Uppsala, Sweden
    Genomics 100:203-11. 2012
    ..in amniotes and the coelacanth, GNAT1-3; two of these were identified in amphibians and teleost fish, GNAT1 and GNAT2. Most tetrapods have four beta genes, GNB1-4, and teleosts have additional duplicates...
  7. pmc Pineal photoreceptor cells are required for maintaining the circadian rhythms of behavioral visual sensitivity in zebrafish
    Xinle Li
    Department of Biological Sciences, Center for Zebrafish Research, University of Notre Dame, Notre Dame, Indiana, United States of America
    PLoS ONE 7:e40508. 2012
    ..We generated a transgenic zebrafish line [Tg(Gnat2:gal4-VP16/UAS:nfsB-mCherry)] in which the E. coli nitroreductase is expressed in pineal photoreceptor cells...
  8. pmc A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia
    Susanne Kohl
    Molecular Genetics Laboratory, Institute for Ophthalmic Research, Centre for Ophthalmology, University of Tuebingen, 72076 Tuebingen, Germany
    Am J Hum Genet 91:527-32. 2012
    ..Its prevalence has been estimated to about 1 in 30,000 individuals. Four genes, GNAT2, PDE6C, CNGA3, and CNGB3, have been implicated in ACHM, and all encode functional components of the ..
  9. doi Genome-wide meta-analysis identifies 11 new loci for anthropometric traits and provides insights into genetic architecture
    Sonja I Berndt
    US Department of Health and Human Services, Division of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health, Bethesda, Maryland, USA
    Nat Genet 45:501-12. 2013
    ..H6PD, RSRC1 and PPP2R2A) influencing height detected in the distribution tails and 7 new loci (HNF4G, RPTOR, GNAT2, MRPS33P4, ADCY9, HS6ST3 and ZZZ3) for clinical classes of obesity...
  10. doi A naturally occurring mouse model of achromatopsia: characterization of the mutation in cone transducin and subsequent retinal phenotype
    Andrew I Jobling
    Department of Anatomy and Neuroscience, The University of Melbourne, Parkville, Victoria, Australia
    Invest Ophthalmol Vis Sci 54:3350-9. 2013
    This work investigates a novel, naturally occurring mouse model of achromatopsia. The specific missense mutation within the Gnat2 gene was identified and the subsequent retinal phenotype characterized.
  11. pmc Survey of common eye diseases in laboratory mouse strains
    Bo Chang
    The Jackson Laboratory, Bar Harbor, Maine 04609, USA
    Invest Ophthalmol Vis Sci 54:4974-81. 2013
    ..These eye diseases are retinal degeneration 1 (Pde6b(rd1)), retinal degeneration 8 (Crb1(rd8)), and cone photoreceptor function loss 3 (Gnat2(cpfl3)).
  12. doi Molecular genetics of achromatopsia in Newfoundland reveal genetic heterogeneity, founder effects and the first cases of Jalili syndrome in North America
    Lance Doucette
    Faculty of Medicine, Memorial University of Newfoundland, St John s, Newfoundland and Labrador, Canada
    Ophthalmic Genet 34:119-29. 2013
    ..from Newfoundland, Canada were sequenced for mutations in the four known achromatopsia genes CNGA3, CNGB3, GNAT2, and PDE6C...
  13. doi Transgenic zebrafish expressing mutant human RETGC-1 exhibit aberrant cone and rod morphology
    Ross F Collery
    UCD Conway Institute and UCD School of Biomolecular and Biomedical Sciences, University College Dublin, Dublin 4, Ireland
    Exp Eye Res 108:120-8. 2013
    ..cDNAs encoding wildtype and mutant (E837D R838S) RETGC-1 were cloned under the control of the cone-specific gnat2 promoter and microinjected into zebrafish embryos to generate transgenic lines...
  14. ncbi [Progress on study of achromatopsia and targeted gene therapy]
    Xu feng Dai
    School of Optometry and Ophthalmology, Wenzhou Medical College, Wenzhou, China
    Zhonghua Yan Ke Za Zhi 48:755-8. 2012
    ..genes have been found to be implicated in achromatopsia-associated mutations: guanine nucleotide-binding protein (GNAT2), cyclic nucleotide-gated channel alpha-3 (CNGA3), cyclic nucleotide-gated channel beta-3 (CNGB3) and ..
  15. pmc Vigabatrin-induced retinal toxicity is partially mediated by signaling in rod and cone photoreceptors
    Jin Yang
    Department of Ophthalmology, Columbia University, New York, New York, USA
    PLoS ONE 7:e43889. 2012
    ..photoreceptor function was involved in the pathway to toxicity, we tested mice with mutations in the cone-specific Gnat2 or rod-specific Pde6g genes, and found the mutations significantly reduced VGB toxicity...
  16. pmc Functional interchangeability of rod and cone transducin alpha-subunits
    Wen tao Deng
    Department of Ophthalmology, University of Florida, Gainesville, FL 32610, USA
    Proc Natl Acad Sci U S A 106:17681-6. 2009
    ..expressed in cones and cone Talpha expressed in rods in three mouse strains: rod Talpha knockout, cone Talpha GNAT2(cpfl3) mutant, and rod and cone Talpha double mutant rd17 mouse...
  17. doi Oligocone trichromacy: clinical and molecular genetic investigations
    Mette K G Andersen
    National Eye Clinic, Kennedy Center, Glostrup, Denmark
    Invest Ophthalmol Vis Sci 51:89-95. 2010
    ..To describe the phenotype and genotype of patients with a diagnosis of oligocone trichromacy (OT)...
  18. pmc A study of candidate genes for day blindness in the standard wire haired dachshund
    Anne Caroline Wiik
    Department of Basic Sciences and Aquatic Medicine, Division of Genetics, Norwegian School of Veterinary Science, PO Box 8146 Dep, 0033 Oslo, Norway
    BMC Vet Res 4:23. 2008
    ..Based on a literature review of diseases in dogs and human with phenotypes similar to day blindness, ten genes were selected and evaluated as potential candidate genes associated with day blindness in the breed...
  19. pmc Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism
    Xi Qin Ding
    Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA
    Hum Mol Genet 18:4770-80. 2009
    ..protein and mRNA levels were significantly decreased in CNGB3(-/-) mice; in contrast, mRNA levels of S-opsin, Gnat2 and Pde6c were unchanged, relative to WT mice...
  20. doi Genetic etiology and clinical consequences of complete and incomplete achromatopsia
    Alberta A H J Thiadens
    Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands
    Ophthalmology 116:1984-9.e1. 2009
    ..To investigate the genetic causes of complete and incomplete achromatopsia (ACHM) and assess the association between disease-causing mutations, phenotype at diagnosis, and visual prognosis...
  21. pmc Nr2e3-directed transcriptional regulation of genes involved in photoreceptor development and cell-type specific phototransduction
    Neena B Haider
    Department of Genetics, Cell Biology, and Anatomy, University of Nebraska Medical Center, 985805 Nebraska Medical Center, Omaha, NE 68198 5805, USA
    Exp Eye Res 89:365-72. 2009
    ..including the rod specific gene Gnb1 and cone specific genes blue opsin, and two of the cone transducin subunits, Gnat2 and Gnb3. In addition, we identified 5 novel transcripts that are targeted by NR2E3...
  22. pmc CNGA3 mutations in two United Arab Emirates families with achromatopsia
    Yachna Ahuja
    Center for Genetic Eye Diseases, Cole Eye Institute, Cleveland Clinic Foundation, Cleveland, OH, USA
    Mol Vis 14:1293-7. 2008
    ..channel, beta-3 (CNGB3); and guanine nucleotide-binding protein, alpha-transducing activity polypeptide 2 (GNAT2)...
  23. doi Prospects for retinal cone-targeted gene therapy
    John J Alexander
    Department of Pathology, Immunology, and Laboratory Medicine, University of Florida College of Medicine, Gainesville, Florida, USA
    Drug News Perspect 21:267-71. 2008
    ..In the Gnat2(cpfl3) mouse model of one genetic form of human achromatopsia, we were able to demonstrate recovery of normal cone ..
  24. doi A mutation in gene CNGA3 is associated with day blindness in sheep
    Shay Reicher
    Institute of Animal Science, The Volcani Center, Bet Dagan, Israel
    Genomics 95:101-4. 2010
    ..To identify gene(s) associated with sheep day blindness, we investigated mutations in the CNGA3, CNGB3, and GNAT2 genes which have been associated with achromatopsia...
  25. doi Genome-wide association study of recurrent early-onset major depressive disorder
    J Shi
    Department of Psychiatry, Stanford University, Stanford, CA, USA
    Mol Psychiatry 16:193-201. 2011
    ..Larger samples will be required to confirm the hypothesis of association between MDD (and particularly the recurrent early-onset subtype) and common SNPs...
  26. ncbi [Analysis of cell specific transcription of the human cone transducin alpha subunit gene]
    T Hirano
    Third Department of Internal Medicine, Hokkaido University School of Medicine, Sapporo, Japan
    Hokkaido Igaku Zasshi 68:885-93. 1993
    ..By further study utilizing genomic sequencing, HeLa DNA was methylated in contrast to Y79, suggesting methylation as one of the transcription-regulating factors of this region...
  27. pmc Spectral and temporal sensitivity of cone-mediated responses in mouse retinal ganglion cells
    Yanbin V Wang
    Department of Molecular, Cellular, and Developmental Biology, University of Michigan, Ann Arbor, Michigan 48105, USA
    J Neurosci 31:7670-81. 2011
    ..In mice lacking cone function (Gnat2(cpfl3)), light-adapted rod-mediated responses peaked at ∼ 5-7 Hz...
  28. pmc Gene therapy regenerates protein expression in cone photoreceptors in Rpe65(R91W/R91W) mice
    Corinne Kostic
    Unit of Gene Therapy and Stem Cell Biology, Jules Gonin Eye Hospital, University of Lausanne, Lausanne, Switzerland
    PLoS ONE 6:e16588. 2011
    ..the cones (40% of the number found in wild-type animals) in the Rpe65(R91W/R91W) mice expressed cone transducin (GNAT2); this fraction increased to 64% after treatment...
  29. pmc Visual responses in mice lacking critical components of all known retinal phototransduction cascades
    Annette E Allen
    Faculty of Life Sciences, University of Manchester, Manchester, United Kingdom
    PLoS ONE 5:e15063. 2010
    ..injection of U73122 (a phospholipase C antagonist), but is inhibited by a missense mutation of cone α transducin (Gnat2(cpfl3)), suggesting Gnat2-dependence...
  30. doi Clinical and genetic investigation of a large Tunisian family with complete achromatopsia: identification of a new nonsense mutation in GNAT2 gene
    Farah Ouechtati
    Molecular Investigation of Genetic Orphan Diseases Research Unit UR04 SP03, Pasteur Institute, Tunis, Tunisia
    J Hum Genet 56:22-8. 2011
    Complete achromatopsia is a rare autosomal recessive disease associated with CNGA3, CNGB3, GNAT2 and PDE6C mutations...
  31. pmc Dark light, rod saturation, and the absolute and incremental sensitivity of mouse cone vision
    Frank Naarendorp
    Department of Psychology, Northeastern University, Boston, Massachusetts 02115, USA
    J Neurosci 30:12495-507. 2010
    ..dissect the contributions of rod and cone pathways, both wild-type mice and mice lacking rod (Gnat1(-/-)) or cone (Gnat2(cpfl3)) function were studied...
  32. pmc Visual responses in the lateral geniculate evoked by Cx36-independent rod pathways
    Timothy M Brown
    Faculty of Life Sciences, University of Manchester, Manchester, UK
    Vision Res 51:280-7. 2011
    ..mice lacking a key gap junction protein (Cx36(-/-)) and carrying a mutation that disrupts cone phototransduction (Gnat2(cpfl3))...
  33. pmc Replacing the rod with the cone transducin subunit decreases sensitivity and accelerates response decay
    C K Chen
    Department of Integrative Biology and Physiology, University of California Los Angeles, 3836 Life Sciences Building, Los Angeles 90095 1606, USA
    J Physiol 588:3231-41. 2010
    ..They also indicate more generally that the molecular nature of G-protein alpha may play an important role in the kinetics of G-protein cascades for metabotropic receptors throughout the body...
  34. pmc Achromatopsia as a potential candidate for gene therapy
    Ji Jing Pang
    Department of Ophthalmology, University of Florida, Gainesville, FL 32610, USA
    Adv Exp Med Biol 664:639-46. 2010
    ..nucleotide-gated cation channel), CNGA3 (alpha subunit of the cone cyclic nucleotide-gated cation channel), and GNAT2 (cone specific alpha subunit of transducin)...
  35. pmc Speed, spatial, and temporal tuning of rod and cone vision in mouse
    Yumiko Umino
    Center for Vision Research, Department of Ophthalmology, State University of New York, Upstate Medical University, Syracuse, New York 13210, USA
    J Neurosci 28:189-98. 2008
    ..forced-choice measures of contrast thresholds for optomotor responses of C57BL/6J mice with normal vision, Gnat2(cpfl3) mice without functional cones, and Gnat1-/- mice without functional rods. Gnat2(cpfl3) mice (threshold, -6...
  36. ncbi An adaptive ERG technique to measure normal and altered dark adaptation in the mouse
    Paul J DeMarco
    Louisville VA Medical Center, Department of Psychological and Brain Sciences, University of Louisville, 317 Life Sciences Bldg, Louisville, KY, USA
    Doc Ophthalmol 115:155-63. 2007
    ..functions, commensurate with the functional deficit were recorded in pigmented mice that lacked cone function (Gnat2 ( cplf3 )) and in WT mice injected with a toxin, sodium iodate (NaIO(3)), which targets the retinal pigment ..
  37. ncbi Light threshold-controlled cone alpha-transducin translocation
    Junping Chen
    Oklahoma Center for Neuroscience, The University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA
    Invest Ophthalmol Vis Sci 48:3350-5. 2007
    ..However, cone alpha-transducin (cTalpha, GNAT2) has not been shown to have such light-dependent redistribution...
  38. ncbi Cloning and characterization of the human phosphoinositide-specific phospholipase C-beta 1 (PLC beta 1)
    A Caricasole
    Biology Department, GlaxoWellcome Medicines Research Centre, Verona, Italy
    Biochim Biophys Acta 1517:63-72. 2000
    ..Finally, we characterized the structure of the PLC beta 1 locus and confirmed its mapping to human chromosome 20...
  39. ncbi Novel locus for autosomal recessive cone-rod dystrophy CORD8 mapping to chromosome 1q12-Q24
    S Khaliq
    Dr A Q Khan Research Laboratories, Biomedical and Genetic Engineering Division, Islamabad, Pakistan
    Invest Ophthalmol Vis Sci 41:3709-12. 2000
    ..Fundoscopy revealed marked macular degeneration and attenuation of retinal vessels. Mild pigmentary changes were present in the periphery...
  40. pmc oriGNAI3: a narrow zone of preferential replication initiation in mammalian cells identified by 2D gel and competitive PCR replicon mapping techniques
    F Toledo
    Unité de Génétique Somatique URA CNRS 1960, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris Cedex 15, France
    Nucleic Acids Res 26:2313-21. 1998
    ..we analyze the replication of an amplified genomic region encompassing the 3'-end of the GNAI3 gene, the entire GNAT2 gene and the intergenic region between them in exponentially growing Chinese hamster fibroblasts...
  41. ncbi Localization of upstream silencer elements involved in the expression of cone transducin alpha-subunit (GNAT2)
    T A Morris
    Department of Ophthalmology, Indiana University, Indianapolis 46202, USA
    Invest Ophthalmol Vis Sci 38:196-206. 1997
    To localize cis-acting elements involved in the expression of the cone-specific G-protein, cone transducin alpha-subunit (GNAT2).
  42. ncbi The structure of the G protein heterotrimer Gi alpha 1 beta 1 gamma 2
    M A Wall
    Department of Biochemistry, University of Texas Southwestern Medical Center, Dallas 75235, USA
    Cell 83:1047-58. 1995
    ..Repeated WD motifs in beta form a circularized sevenfold beta propeller. The conserved cores of these motifs are a scaffold for display of their more variable linkers on the exterior face of each propeller blade...
  43. ncbi Characterization of the gene encoding human cone transducin alpha-subunit (GNAT2)
    T A Morris
    Department of Biological Sciences, Purdue University, West Lafayette, Indiana 47907
    Genomics 17:442-8. 1993
    The human cone transducin alpha-subunit (GNAT2) gene has been completely characterized. The human GNAT2 transcription unit is 9967-bp in length and consists of eight exons with seven introns...
  44. ncbi Structural determinants for activation of the alpha-subunit of a heterotrimeric G protein
    D G Lambright
    Department of Molecular Biophysics and Biochemistry, Yale University, New Haven, Connecticut 06510
    Nature 369:621-8. 1994
    ..The changes are distinct from those observed in other members of the GTPase superfamily...
  45. pmc Myristoylated alpha subunits of guanine nucleotide-binding regulatory proteins
    J E Buss
    La Jolla Cancer Research Foundation, CA 92037
    Proc Natl Acad Sci U S A 84:7493-7. 1987
    ..Myristate may play an important role in stabilizing interactions of G proteins with phospholipid or with membrane-bound proteins...
  46. pmc Chromosomal localization of genes encoding guanine nucleotide-binding protein subunits in mouse and human
    C Blatt
    Weizmann Institute, Rehovoth, Israel
    Proc Natl Acad Sci U S A 85:7642-6. 1988
    ..The retinal-specific transducin subunit genes GNAT1 and GNAT2 were on chromosomes 3 and 1; GNAI1, GNAI2, and GNAI3 were assigned to chromosomes 7, 3, and 1, respectively; GNAZ ..
  47. ncbi Alpha transducin is present in blue-, green-, and red-sensitive cone photoreceptors in the human retina
    C L Lerea
    Howard Hughes Medical Institute, University of Washington, Seattle 98195
    Neuron 3:367-76. 1989
    ..The multiple Tc alpha genes could be closely related genes or different Tc alpha alleles, or one could be a pseudogene...
  48. ncbi Molecular cloning and sequence analysis of cDNA and genomic DNA for the human cone transducin alpha subunit
    M Kubo
    Section of Bacterial Infection, Hokkaido University, Sapporo, Japan
    FEBS Lett 291:245-8. 1991
    ..In Jurkat, however, the message was detectable only by reverse transcription/PCR. Taken together, this novel G protein alpha subunit must be human Tc...
  49. ncbi Rhodopsin and the retinal G-protein distinguish among G-protein beta gamma subunit forms
    A B Fawzi
    Department of Pharmacology, Yale University School of Medicine, New Haven, Connecticut 06510
    J Biol Chem 266:12194-200. 1991
    ..These results may indicate that the recently uncovered diversity in the expression of beta gamma subunit forms may complement the diversity of G alpha subunits in providing for specific receptor recognition of G-proteins...
  50. ncbi Structural analysis of rod GTP-binding protein, Gt. Limited proteolytic digestion pattern of Gt with four proteases defines monoclonal antibody epitope
    M R Mazzoni
    Department of Physiology and Biophysics, University of Illinois College of Medicine, Chicago 60680
    J Biol Chem 266:14072-81. 1991
    ..Additionally, the antibody did not bind the 38- and 36-kDa or other fragments containing the carboxyl terminus, showing that the amino-terminal residues from Met1 to Lys17 were essential for antibody binding to alpha t...
  51. ncbi cGMP suppresses GTPase activity of a portion of transducin equimolar to phosphodiesterase in frog rod outer segments. Light-induced cGMP decreases as a putative feedback mechanism of the photoresponse
    - Arshavsky VYu
    Laboratory of Molecular Biology, University of Wisconsin, Madison 53706
    J Biol Chem 266:18530-7. 1991
    ....
  52. pmc Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia
    Susanne Kohl
    Molekulargenetisches Labor, Universitats Augenklinik, Auf der Morgenstelle 15, D 72076 Tubingen, Germany
    Am J Hum Genet 71:422-5. 2002
    ..identification of five independent families with achromatopsia that segregate protein-truncation mutations in the GNAT2 gene, located on chromosome 1p13...
  53. pmc Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2)
    I A Aligianis
    Section of Medical and Molecular Genetics, Department of Paediatrics and Child Health, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK
    J Med Genet 39:656-60. 2002
    ..To determine the molecular basis for achromatopsia using autozygosity mapping and positional candidate gene analysis...
  54. ncbi Restoration of cone vision in a mouse model of achromatopsia
    John J Alexander
    Department of Molecular Genetics and Microbiology, University of Florida College of Medicine, Gainesville, Florida 32610, USA
    Nat Med 13:685-7. 2007
    ..Using adeno-associated virus (AAV) gene therapy, we show that it is possible to target cones and rescue both the cone-mediated electroretinogram response and visual acuity in the Gnat2 ( cpfl3 ) mouse model of achromatopsia.
  55. ncbi Temporal response properties of the primary and secondary rod-signaling pathways in normal and Gnat2 mutant mice
    S Nusinowitz
    Jules Stein Eye Institute, UCLA School of Medicine, Los Angeles, CA, USA
    Exp Eye Res 84:1104-14. 2007
    ..C57BL/6J and Gnat2(cpfl3) mutant mice lacking functional cones were used in these experiments...
  56. ncbi Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14
    Wojciech Wiszniewski
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Genet 121:433-9. 2007
    ..of the cyclic nucleotide-gated cation channel (CNGA3 and CNGB3, respectively) and cone photoreceptor transducin--GNAT2. We investigated the prevalence of mutations in achromatopsia-causing genes in a cohort of 16 families with both ..
  57. pmc Differential expression of photoreceptor-specific genes in the retina of a zebrafish cadherin2 mutant glass onion and zebrafish cadherin4 morphants
    Q Liu
    Department of Biology, University of Akron, 302 Buchtel Common, Akron, OH 44325, USA
    Exp Eye Res 84:163-75. 2007
    ..photoreceptors, we have analyzed expression patterns of several photoreceptor-specific genes (crx, gnat1, gnat2, irbp, otx5, rod opsin, rx1, and uv opsin) and/or a cone photoreceptor marker (zpr-1) in the retina of a zebrafish ..
  58. ncbi Cone photoreceptor function loss-3, a novel mouse model of achromatopsia due to a mutation in Gnat2
    Bo Chang
    The Jackson Laboratory, Bar Harbor, Maine, USA
    Invest Ophthalmol Vis Sci 47:5017-21. 2006
    ..To report a novel mouse model of achromatopsia with a cpfl3 mutation found in the ALS/LtJ strain...
  59. ncbi Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia
    Satoshi Goto-Omoto
    Department of Ophthalmology, Jikei University School of Medicine, Tokyo, Japan
    Vis Neurosci 23:395-402. 2006
    ..This disorder has been shown to be associated with CNGA3, CNGB3, and GNAT2 mutations, and the frequency of mutations in the CNGA3 gene (encoding alpha subunit of the cone-specific cGMP-..
  60. ncbi Mechanism of the receptor-catalyzed activation of heterotrimeric G proteins
    William M Oldham
    Department of Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee 37232 6600, USA
    Nat Struct Mol Biol 13:772-7. 2006
    ..These data provide the first direct observation of R*-mediated conformational changes in G proteins and define the structural basis for GDP release from G alpha...
  61. ncbi Genetic diseases associated with heterotrimeric G proteins
    Lee S Weinstein
    Metabolic Diseases Branch, National Institute of Diabetes, Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Trends Pharmacol Sci 27:260-6. 2006
    ..Mutations of GNAT1 and GNAT2, which encode the retinal G proteins (transducins), are rare causes of specific congenital visual defects...
  62. ncbi Characterization of a transgenic mouse line lacking photoreceptor development within the ventral retina
    Shao Ling Fong
    Department of Ophthalmology, Indiana University, 702 Rotary Circle, Indianapolis, IN 46202, USA
    Exp Eye Res 81:376-88. 2005
    ..line was generated by incorporating a minigene that contained a cone-specific human cone transducin alpha-subunit (GNAT2) promoter, an attenuated diphtheria toxin A (DTA) gene, and an enhancer element from human interphotoreceptor ..
  63. ncbi Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases
    Koji M Nishiguchi
    Ocular Molecular Genetics Institute and the Berman Gund Laboratory for the Study of Retinal Degenerations, Harvard Medical School, Massachusetts Eye and Ear Infirmary, Boston, Massachusetts 02114, USA
    Hum Mutat 25:248-58. 2005
    ..macular malfunction were screened for mutations in the three genes known to be associated with achromatopsia: the GNAT2 gene encoding the alpha subunit of cone transducin and the CNGA3 and CNGB3 genes encoding the alpha and beta ..
  64. ncbi CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia
    Susanne Kohl
    Molekulargenetisches Labor, Universitäts Augenklinik Tübingen, Abt Pathophysiologie des Sehens und Neuroophthalmologie, Germany
    Eur J Hum Genet 13:302-8. 2005
    ..2), photophobia, and nystagmus. Mutations in the genes for CNGA3, CNGB3, and GNAT2 have been associated with this disorder...
  65. ncbi Variant phenotypes of incomplete achromatopsia in two cousins with GNAT2 gene mutations
    Thomas Rosenberg
    Gordon Norrie Centre for Genetic Eye Diseases, National Eye Clinic for the Visually Impaired, 1 Rymarksvej, DK 2900 Hellerup, Denmark
    Invest Ophthalmol Vis Sci 45:4256-62. 2004
    ....
  66. ncbi [Molecular genetic findings in patients with congenital cone dysfunction. Mutations in the CNGA3, CNGB3, or GNAT2 genes]
    U Kellner
    Augenklinik Campus Benjamin Franklin, Charite Universitatsmedizin, Berlin
    Ophthalmologe 101:830-5. 2004
    ..This study compares clinical and molecular genetic findings in patients with congenital cone dysfunction...
  67. ncbi A three base pair deletion encoding the amino acid (lysine-270) in the alpha-cone transducin gene
    Ana Luisa Pina
    McGill Ocular Genetics Laboratory, Montreal Children s Hospital Research Institute, McGill University, Montreal, PQ, Canada
    Mol Vis 10:265-71. 2004
    ..The human gene for the alpha-subunit of cone transducin (GNAT2) has been cloned and characterized. Recently achromatopsia has been associated with mutations in this gene...
  68. ncbi Phospholipase C-beta 1 is a GTPase-activating protein for Gq/11, its physiologic regulator
    G Berstein
    Department of Pharmacology, University of Texas Southwestern Medical Center, Dallas 75235 9041
    Cell 70:411-8. 1992
    ..Such GAP activity by an effector coupled to a trimeric G protein can reconcile slow GTP hydrolysis by pure G proteins in vitro with fast physiologic deactivation of G protein-mediated signaling...

Research Grants8

  1. Genetics of Age-Related Cataracts
    Bo Chang; Fiscal Year: 2007
    ..abstract_text> ..
  2. Eye Mutant Resource
    Bo Chang; Fiscal Year: 2010
    ..Further, these models can be used to identify treatment targets and to test therapeutic strategies. The EMR focuses on identifying, characterizing and distributing such models. ..
  3. Cadherin6 and -10 Function in Retinal Ganglion and Amacrine Cell Development
    Qin Liu; Fiscal Year: 2007
    ....
  4. Using Nanotechnology to Rescue Visual Loss in A Model of Human Blinding Disorder
    Xi Qin Ding; Fiscal Year: 2007
    ..Information obtained from the proposed study will open a new pathway for therapeutic interventions of retinal degeneration and will have significant impact on the clinical treatment of human retinal diseases. ..
  5. Nanoparticle & AAV Approaches to Rapid Onset, Stable Retinal Gene Therapy
    Jijing Pang; Fiscal Year: 2007
    ..Our ultimate goal is to establish a retinal gene delivery system that is fast, of long duration and can accommodate large therapeutic cDNAs. ..
  6. Mechanism of Cone Degeneration Resulting from CNG Channel Deficiency
    Xi Qin Ding; Fiscal Year: 2010
    ..This knowledge is essential for developing therapeutic interventions to treat cone diseases and retard or rescue vision loss. ..