CNGB3

Summary

Gene Symbol: CNGB3
Description: cyclic nucleotide gated channel beta 3
Alias: ACHM1, CNG channel beta-3, cone photoreceptor cGMP-gated cation channel beta-subunit, cyclic nucleotide-gated cation channel beta-3, cyclic nucleotide-gated cation channel modulatory subunit
Species: human

Top Publications

  1. ncbi Subunit configuration of heteromeric cone cyclic nucleotide-gated channels
    Changhong Peng
    Department of Veterinary and Comparative Anatomy, Washington State University, P O Box 646520, Pullman, WA 99164, USA
    Neuron 42:401-10. 2004
  2. ncbi Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels
    Changhong Peng
    Department of Veterinary and Comparative Anatomy, Pharmacology, and Physiology and Program in Neuroscience, Washington State University, Pullman, Washington 99164 6520, USA
    J Biol Chem 278:34533-40. 2003
  3. ncbi Regulation of human cone cyclic nucleotide-gated channels by endogenous phospholipids and exogenously applied phosphatidylinositol 3,4,5-trisphosphate
    Scott R Bright
    Department of Veterinary, Washington State University, PO Box 646520, Pullman, WA 99164, USA
    Mol Pharmacol 71:176-83. 2007
  4. ncbi Functionally important calmodulin-binding sites in both NH2- and COOH-terminal regions of the cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit
    Changhong Peng
    Department of Veterinary and Comparative Anatomy, Washington State University, Pullman 99164 6520, USA
    J Biol Chem 278:24617-23. 2003
  5. ncbi Progressive cone dystrophy associated with mutation in CNGB3
    Michel Michaelides
    Institute of Ophthalmology, University College London, London, United Kingdom
    Invest Ophthalmol Vis Sci 45:1975-82. 2004
  6. ncbi Functional role of hCngb3 in regulation of human cone cng channel: effect of rod monochromacy-associated mutations in hCNGB3 on channel function
    Akira Okada
    Department of Ophthalmology, Shiga University of Medical Science, Seta, Otsu, Japan
    Invest Ophthalmol Vis Sci 45:2324-32. 2004
  7. ncbi Genetic basis of total colourblindness among the Pingelapese islanders
    O H Sundin
    Laboratory of Developmental Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Nat Genet 25:289-93. 2000
  8. 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
  9. 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
  10. 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

Scientific Experts

  • S Kohl
  • Xi Qin Ding
  • Lynn Douglas
  • Thomas Rosenberg
  • R G Weleber
  • Anne Caroline Wiik
  • J M Seddon
  • Ji Jing Pang
  • Andras Komaromy
  • O H Sundin
  • Louise Eksandh
  • U Kellner
  • Cecilia V Rojas
  • Robert Karel Koenekoop
  • F Hofmann
  • JOSEPH J CARROLL
  • MICHAEL VARNUM
  • Michael D Varnum
  • Changhong Peng
  • Keri Hammel
  • Jeffrey D Chulay
  • Chunming Liu
  • Alberta A H J Thiadens
  • Gucan Dai
  • Jianhua Xu
  • Bernd Wissinger
  • Elizabeth D Rich
  • Frans P M Cremers
  • Scott R Bright
  • Susanne Roosing
  • Anneke I den Hollander
  • Carel B Hoyng
  • Naheed Wali Khan
  • Balazs Varsanyi
  • Starla E Meighan
  • Christian Schön
  • Lance Doucette
  • Martin Biel
  • R Lane Brown
  • Stylianos Michalakis
  • Deborah L Duricka
  • Xu feng Dai
  • Arjun Thapa
  • Lynsie Morris
  • Farah Ouechtati
  • Steven J Fliesler
  • Livia S Carvalho
  • Ajoy Vincent
  • Maleeha Azam
  • Shay Reicher
  • Rob W J Collin
  • S Johnson
  • Mette K G Andersen
  • Mary J van Schooneveld
  • Norka van Moll-Ramirez
  • Janneke J C van Lith-Verhoeven
  • L Ingeborgh van den Born
  • Caroline C W Klaver
  • I A Aligianis
  • Alexander V Matveev
  • Peggy Reuter
  • Yachna Ahuja
  • Robert K Koenekoop
  • Wojciech Wiszniewski
  • Agnes Farkas
  • Katja Koeppen
  • Satoshi Goto-Omoto
  • Christophe Paillart
  • Eberhart Zrenner
  • Koji M Nishiguchi
  • Juan I Korenbrot
  • Dimitri Tränkner
  • Michel Michaelides
  • Akira Okada
  • Maria Paula Faillace
  • M Michaelides
  • A T Moore
  • D M Hunt
  • E R Maher
  • Duska J Sidjanin
  • Terry Lynn Young
  • Gordon J Johnson
  • Dante Galutira
  • Jane Green
  • Tshering Sherpa
  • Coleman Black
  • Jeremy Schwartzentruber
  • Peter C Meighan
  • Hongwei Ma
  • Lynsie M Morris

Detail Information

Publications66

  1. ncbi Subunit configuration of heteromeric cone cyclic nucleotide-gated channels
    Changhong Peng
    Department of Veterinary and Comparative Anatomy, Washington State University, P O Box 646520, Pullman, WA 99164, USA
    Neuron 42:401-10. 2004
    Cone photoreceptor cyclic nucleotide-gated (CNG) channels are thought to be tetrameric assemblies of CNGB3 (B3) and CNGA3 (A3) subunits...
  2. ncbi Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels
    Changhong Peng
    Department of Veterinary and Comparative Anatomy, Pharmacology, and Physiology and Program in Neuroscience, Washington State University, Pullman, Washington 99164 6520, USA
    J Biol Chem 278:34533-40. 2003
    ..cyclic nucleotide-gated (CNG) channels are thought to form by assembly of two different subunit types, CNGA3 and CNGB3. Recently, mutations in the gene encoding the CNGB3 subunit have been linked to achromatopsia in humans...
  3. ncbi Regulation of human cone cyclic nucleotide-gated channels by endogenous phospholipids and exogenously applied phosphatidylinositol 3,4,5-trisphosphate
    Scott R Bright
    Department of Veterinary, Washington State University, PO Box 646520, Pullman, WA 99164, USA
    Mol Pharmacol 71:176-83. 2007
    ..capable of altering the apparent ligand affinity of cone channels, we have expressed heteromeric (CNGA3 + CNGB3) human cone CNG channels in Xenopus laevis oocytes and characterized the alterations in channel activity that ..
  4. ncbi Functionally important calmodulin-binding sites in both NH2- and COOH-terminal regions of the cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit
    Changhong Peng
    Department of Veterinary and Comparative Anatomy, Washington State University, Pullman 99164 6520, USA
    J Biol Chem 278:24617-23. 2003
    ..Cone CNG channels are composed of at least two different subunit types, CNGA3 and CNGB3. We have investigated whether calmodulin modulates the activity of these channels by direct binding to the CNGB3 ..
  5. ncbi Progressive cone dystrophy associated with mutation in CNGB3
    Michel Michaelides
    Institute of Ophthalmology, University College London, London, United Kingdom
    Invest Ophthalmol Vis Sci 45:1975-82. 2004
    ..To determine the molecular basis for phenotypic variability in a three-generation consanguineous family containing a single individual with complete achromatopsia and three individuals with progressive cone dystrophy...
  6. ncbi Functional role of hCngb3 in regulation of human cone cng channel: effect of rod monochromacy-associated mutations in hCNGB3 on channel function
    Akira Okada
    Department of Ophthalmology, Shiga University of Medical Science, Seta, Otsu, Japan
    Invest Ophthalmol Vis Sci 45:2324-32. 2004
    ..The purpose was to examine the functional role of hCNGB3 in modulation of human cone CNG channels and to characterize functional consequences of rod monochromacy-associated mutations in hCNGB3 (S435F and D633G)...
  7. ncbi Genetic basis of total colourblindness among the Pingelapese islanders
    O H Sundin
    Laboratory of Developmental Genetics, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA
    Nat Genet 25:289-93. 2000
    ..4 cM and show that Pingelapese achromatopsia segregates with a missense mutation at a highly conserved site in CNGB3, a new gene that encodes the beta-subunit of the cone cyclic nucleotide-gated cation channel...
  8. 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...
  9. 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
    ..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 subunits of the cone cGMP-gated cation channel...
  10. 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
    ..including genes for the alpha and beta subunits of the cyclic nucleotide-gated cation channel (CNGA3 and CNGB3, respectively) and cone photoreceptor transducin--GNAT2...
  11. pmc Achromatopsia caused by novel mutations in both CNGA3 and CNGB3
    S Johnson
    Institute of Ophthalmology, University College London, 11 43 Bath Street, London EC1V 9EV, UK
    J Med Genet 41:e20. 2004
  12. ncbi Clinical and genetic features of Hungarian achromatopsia patients
    Balazs Varsanyi
    Molecular Genetics Laboratory, University Eye Hospital, University of Tubingen, Tubingen, Germany
    Mol Vis 11:996-1001. 2005
    ..To describe the clinical features and molecular genetic findings in a collection of Hungarian achromatopsia patients...
  13. ncbi Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21
    S Kohl
    Molekulargenetisches Labor, Universitats Augenklinik, Auf der Morgenstelle 15, D 72076 Tubingen, Germany
    Hum Mol Genet 9:2107-16. 2000
    ..Using RT-PCR and RACE, we identified and cloned the human cDNA homologue, designated CNGB3, which encodes an 809 amino acid polypeptide...
  14. doi Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy
    Alberta A H J Thiadens
    Department of Ophthalmology, Erasmus Medical Centre, Rotterdam, The Netherlands
    Ophthalmology 117:825-30.e1. 2010
    To investigate whether the major achromatopsia genes (CNGA3 and CNGB3) play a role in the cause of progressive cone dystrophy (CD).
  15. 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...
  16. ncbi Disease-associated mutations in CNGB3 produce gain of function alterations in cone cyclic nucleotide-gated channels
    Scott R Bright
    Department of Veterinary and Comparative Anatomy, Pharmacology and Physiology, Washington State University, Pullman, WA 99164, USA
    Mol Vis 11:1141-50. 2005
    To characterize the functional consequences of disease-associated mutations in the CNGB3 (B3) subunit of human cone photoreceptor cyclic nucleotide-gated channels in order to gain insight into disease mechanisms.
  17. ncbi Cloning and molecular characterization of cGMP-gated ion channels from rod and cone photoreceptors of striped bass ( M. saxatilis ) retina
    Christophe Paillart
    Department of Physiology, School of Medicine, University of California at San Francisco, San Francisco, California 94143, USA
    Vis Neurosci 23:99-113. 2006
    ..9 kb in length and translated into a single 96-kDa protein. In cones we identified both alpha (CNGA3) and beta (CNGB3) channel subunits. For alpha, the gene product is 1956 bp long, the mRNA 3.4 kb, and the protein 74 kDa...
  18. doi Cyclic nucleotide-gated channel subunit glycosylation regulates matrix metalloproteinase-dependent changes in channel gating
    Starla E Meighan
    Program in Neuroscience, Department of Integrative Physiology and Neuroscience, WWAMI Medical Education Program, and Center for Integrated Biotechnology, Washington State University, P O Box 647620, Pullman, Washington 99164, United States
    Biochemistry 52:8352-62. 2013
    ..and Zn(2+)-dependent proteases, enhances the ligand sensitivity of both rod (CNGA1 and CNGB1) and cone (CNGA3 and CNGB3) CNG channels...
  19. pmc Defective trafficking of cone photoreceptor CNG channels induces the unfolded protein response and ER-stress-associated cell death
    Deborah L Duricka
    Department of Veterinary and Comparative Anatomy, Pharmacology and Physiology, Washington State University, Pullman, WA 99164, USA
    Biochem J 441:685-96. 2012
    ..idea, CNGA3 subunits bearing the R563H and Q655X mutations were expressed in photoreceptor-derived 661W cells with CNGB3 subunits...
  20. pmc Endoplasmic reticulum stress-associated cone photoreceptor degeneration in cyclic nucleotide-gated channel deficiency
    Arjun Thapa
    Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma 73104, USA
    J Biol Chem 287:18018-29. 2012
    ..Mutations in the cone CNG channel subunits CNGA3 and CNGB3 account for >70% of all known cases of achromatopsia...
  21. doi Gene replacement therapy for retinal CNG channelopathies
    Christian Schön
    Center for Integrated Protein Science Munich, CIPSM and Department of Pharmacy Center for Drug Research, Ludwig Maximilians Universitat Munchen, Butenandtstr 5 13, 81377, Munich, Germany
    Mol Genet Genomics 288:459-67. 2013
    ..CNG channel is composed of one CNGB1 and three CNGA1 subunits, whereas the cone channel is formed by one CNGB3 and three CNGA3 subunits...
  22. pmc Disease-associated mutations in CNGB3 promote cytotoxicity in photoreceptor-derived cells
    Chunming Liu
    College of Optometry, Western University of Health Sciences, Pomona, CA, USA
    Mol Vis 19:1268-81. 2013
    To determine if achromatopsia associated F525N and T383fsX mutations in the CNGB3 subunit of cone photoreceptor cyclic nucleotide-gated (CNG) channels increases susceptibility to cell death in photoreceptor-derived cells.
  23. pmc Transient photoreceptor deconstruction by CNTF enhances rAAV-mediated cone functional rescue in late stage CNGB3-achromatopsia
    Andras M Komaromy
    Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA
    Mol Ther 21:1131-41. 2013
    ..disorder of cones, and one of the most common forms is a channelopathy caused by mutations in the β-subunit, CNGB3, of the cone cyclic nucleotide-gated (CNG) channel...
  24. pmc CNGA3 achromatopsia-associated mutation potentiates the phosphoinositide sensitivity of cone photoreceptor CNG channels by altering intersubunit interactions
    Gucan Dai
    Department of Integrative Physiology and Neuroscience, Program in Neuroscience and Center for Integrated Biotechnology, Washington State University, Pullman, Washington 99164 7620, USA
    Am J Physiol Cell Physiol 305:C147-59. 2013
    ..CNGA3-L633P subunits formed functional channels with or without CNGB3, producing an increase in apparent cGMP affinity...
  25. 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 phototransduction cascade in cone ..
  26. pmc Two structural components in CNGA3 support regulation of cone CNG channels by phosphoinositides
    Gucan Dai
    Department of Integrative Physiology and Neuroscience, Washington State University, Pullman, WA 99164, USA
    J Gen Physiol 141:413-30. 2013
    ..Heteromeric cone CNGA3 (A3) + CNGB3 (B3) channels are inhibited by membrane phosphoinositides (PIP(n)), including phosphatidylinositol 3,4,5-..
  27. ncbi Establishing an antenatal group for families with a diagnosis of cleft lip
    Lynn Douglas
    Central Manchester University Hospitals NHS Foundation Trust, North West England, Isle of Man, North Wales Cleft Lip and Palate Network
    Community Pract 85:20-3. 2012
    ..Attendance at these groups ranged from 30-50% of those invited between 2008 to 2011. Feedback forms from attendees have informed the evolution of the group. The groups facilitate peer support at an important adjustment time for families...
  28. 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
    ..patients from Newfoundland, Canada were sequenced for mutations in the four known achromatopsia genes CNGA3, CNGB3, GNAT2, and PDE6C...
  29. 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
    ..protein (GNAT2), cyclic nucleotide-gated channel alpha-3 (CNGA3), cyclic nucleotide-gated channel beta-3 (CNGB3) and phosphodiesterase 6C (PDE6C)...
  30. pmc Early-onset, slow progression of cone photoreceptor dysfunction and degeneration in CNG channel subunit CNGB3 deficiency
    Jianhua Xu
    Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA
    Invest Ophthalmol Vis Sci 52:3557-66. 2011
    To investigate the progression of cone dysfunction and degeneration in CNG channel subunit CNGB3 deficiency.
  31. 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...
  32. pmc Molecular pathogenesis of achromatopsia associated with mutations in the cone cyclic nucleotide-gated channel CNGA3 subunit
    Xi Qin Ding
    Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA
    Adv Exp Med Biol 664:245-53. 2010
    ..Mutations in the cone channel subunits CNGA3 and CNGB3 are linked to achromatopsia and progressive cone dystrophy in humans...
  33. 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
    ..Mutations in three genes have been found to be the primary causes of achromatopsia, including CNGB3 (beta subunit of the cone cyclic nucleotide-gated cation channel), CNGA3 (alpha subunit of the cone cyclic ..
  34. pmc Gene therapy rescues cone function in congenital achromatopsia
    Andras M Komaromy
    Department of Clinical Studies, School of Veterinary Medicine, University of Pennsylvania, Philadelphia, PA 19104, USA
    Hum Mol Genet 19:2581-93. 2010
    ..the human red cone opsin promoter led to the restoration of cone function and day vision in two canine models of CNGB3 achromatopsia, a neuronal channelopathy that is the most common form of achromatopsia in man...
  35. pmc Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsia
    Maleeha Azam
    Department of Biosciences, COMSATS Institute of Information Technology, Chak Shahzad, Islamabad, Pakistan
    Mol Vis 16:774-81. 2010
    ..To identify the genetic defect in two Pakistani families with autosomal recessive achromatopsia...
  36. pmc Long-term and age-dependent restoration of visual function in a mouse model of CNGB3-associated achromatopsia following gene therapy
    Livia S Carvalho
    The Department of Genetics, UCL Institute of Ophthalmology, London, UK
    Hum Mol Genet 20:3161-75. 2011
    Mutations in the CNGB3 gene account for >50% of all known cases of achromatopsia...
  37. ncbi Clinical features of achromatopsia in Swedish patients with defined genotypes
    Louise Eksandh
    Department of Ophthalmology, University Hospital, Lund, Sweden
    Ophthalmic Genet 23:109-20. 2002
    To describe the clinical phenotype, with emphasis on the electrophysiological findings, of patients with autosomal recessive rod monochromacy (RM) and defined mutations in the CNGA3/CNGB3 genes.
  38. doi Oligocone trichromacy is part of the spectrum of CNGA3-related cone system disorders
    Ajoy Vincent
    Department of Ophthalmology and Vision Sciences, The Hospital for Sick Children, Toronto, Canada
    Ophthalmic Genet 32:107-13. 2011
    ..To report the rare observation of CNGA3 mutation as a cause of oligocone trichromacy (OT) and present phenotypic characteristics...
  39. 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...
  40. 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)...
  41. 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
    ..This channel is composed of two structurally related subunits, CNGA3 and CNGB3; CNGA3 is the ion-conducting subunit, whereas CNGB3 is a modulatory subunit...
  42. 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...
  43. pmc Maternal uniparental isodisomy of chromosome 14: association with autosomal recessive rod monochromacy
    L Pentao
    Institute for Molecular Genetics, Baylor College of Medicine, Houston, TX 77030
    Am J Hum Genet 50:690-9. 1992
    ..This finding suggests that rod monochromacy maps to chromosome 14, and it emphasizes the importance of uniparental isodisomy to provide a putative chromosomal assignment of a gene for a rare autosomal recessive disorder...
  44. ncbi Cellular processing of cone photoreceptor cyclic GMP-gated ion channels: a role for the S4 structural motif
    Maria Paula Faillace
    Department of Physiology, School of Medicine, University of California, San Francisco, California 94143, USA
    J Biol Chem 279:22643-53. 2004
    ..Coexpression of cone CNG beta subunit (CNGB3) does not rescue the consequence of S4 mutations in CNGA3...
  45. ncbi Molecular basis of an inherited form of incomplete achromatopsia
    Dimitri Tränkner
    Institut für Biologische Informationsverarbeitung, Forschungszentrum Julich, 52425 Julich, Germany
    J Neurosci 24:138-47. 2004
    Mutations in the genes encoding the CNGA3 and CNGB3 subunits of the cyclic nucleotide-gated (CNG) channel of cone photoreceptors have been associated with autosomal recessive achromatopsia...
  46. ncbi A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate
    Cecilia V Rojas
    INTA, Universidad de Chile, Casilla 138 11, Santiago, Chile
    Eur J Hum Genet 10:638-42. 2002
    Complete achromatopsia is genetically heterogeneous and segregates with mutations in CNGA3 or CNGB3 genes, which respectively encode for alpha- and beta-subunits of the cyclic-nucleotide-gated (CNG) cation channel expressed in cone ..
  47. 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...
  48. ncbi Infantile and childhood retinal blindness: a molecular perspective (The Franceschetti Lecture)
    Richard G Weleber
    Casey Eye Institute, Oregon Health and Science University, Portland, OR 97201 4197, USA
    Ophthalmic Genet 23:71-97. 2002
    ..autosomal recessive congenital achromatopsia from mutations of the genes for ACHM2 (CNGA3) and ACHM3 (CNGB3), X-linked congenital stationary night blindness (CSNB) from mutations of CACNA1F (incomplete CSNB) and NYX (..
  49. ncbi Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3
    Duska J Sidjanin
    Center for Canine Genetics and Reproduction, James A Baker Institute for Animal Health, College of Veterinary Medicine, Cornell University, Ithaca, NY 14853, USA
    Hum Mol Genet 11:1823-33. 2002
    ..The canine homolog of the cyclic nucleotide-gated channel beta-subunit gene (CNGB3), responsible for the human ACHM3 disease phenotype, was mapped within the zero-recombination interval for the cd ..
  50. pmc Homozygosity mapping of the Achromatopsia locus in the Pingelapese
    J D Winick
    The Rockefeller University, New York, USA
    Am J Hum Genet 64:1679-85. 1999
    ..5cm...
  51. ncbi Neuropeptide-E-I antagonizes the action of melanin-concentrating hormone on stress-induced release of adrenocorticotropin in the rat
    M T Bluet-Pajot
    Unité INSERM U 159, Centre Paul Broca, Paris, France
    J Neuroendocrinol 7:297-303. 1995
    ..e. when basal ACTH levels are already low). Using a moderate ether induced stress, ACTH levels are only stimulated during the dark phase of the cycle.(ABSTRACT TRUNCATED AT 250 WORDS)..
  52. 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
    ....
  53. ncbi Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit
    Chunming Liu
    Department of Veterinary and Comparative Anatomy, Pharmacology, and Physiology and Program in Neuroscience, Washington State University, PO Box 646520, Pullman, Washington 99164 6520, USA
    Am J Physiol Cell Physiol 289:C187-98. 2005
    ..of these mutations, we expressed mutant human CNGA3 subunits in Xenopus oocytes, alone or together with human CNGB3, and studied these channels using patch-clamp recording...
  54. pmc Native cone photoreceptor cyclic nucleotide-gated channel is a heterotetrameric complex comprising both CNGA3 and CNGB3: a study using the cone-dominant retina of Nrl-/- mice
    Alexander V Matveev
    Department of Cell Biology, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma 73104, USA
    J Neurochem 106:2042-55. 2008
    ..Mutations in genes encoding the cone CNG channel subunits, CNGA3 and CNGB3, have been linked to various forms of achromatopsia and progressive cone dystrophy in humans...
  55. 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
    ..IN ONE OF THREE GENES: cyclic nucleotide-gated channel, alpha-3 (CNGA3); cyclic nucleotide-gated channel, beta-3 (CNGB3); and guanine nucleotide-binding protein, alpha-transducing activity polypeptide 2 (GNAT2)...
  56. 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...
  57. doi Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia
    Peggy Reuter
    Centre for Ophthalmology, Institute for Ophthalmic Research, Molecular Genetics Laboratory, Tuebingen, Germany
    Hum Mutat 29:1228-36. 2008
    ..functional defects were fully or partially compensated by coexpressing the mutant CNGA3 subunit with the wild-type CNGB3 subunit for channels with the mutations R439W, A469 T, F547L, and E590 K...
  58. pmc In vivo imaging of the photoreceptor mosaic of a rod monochromat
    Joseph Carroll
    Department of Ophthalmology, Medical College of Wisconsin, The Eye Institute, 925 North 87th Street, Milwaukee, WI 53226, USA
    Vision Res 48:2564-8. 2008
    ..images from a rod monochromat for whom the genetic basis of the disorder consists of a homozygous mutation in the CNGB3 gene. Behavioral data from the patient were consistent with an absence of cone function...
  59. ncbi CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function
    Naheed Wali Khan
    Department of Ophthalmology and Visual Sciences, W K Kellogg Eye Center, University of Michigan, Ann Arbor, Michigan, USA
    Invest Ophthalmol Vis Sci 48:3864-71. 2007
    b>CNGB3 encodes the beta-subunits of cyclic nucleotide-gated channels in the photoreceptor plasma membrane. CNGB3 mutations cause a channelopathy that results in impaired cone function manifesting achromatopsia...
  60. ncbi Genetic testing for retinal dystrophies and dysfunctions: benefits, dilemmas and solutions
    Robert K Koenekoop
    McGill Ocular Genetics Center, McGill University Health Center, Montreal, Quebec, Canada
    Clin Experiment Ophthalmol 35:473-85. 2007
    ..Genetic testing will then become standard practice to complement the ophthalmic evaluation...
  61. 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-..
  62. ncbi Genetic heterogeneity of day blindness in Alaskan Malamutes
    J M Seddon
    School of Veterinary Science, The University of Queensland, St Lucia, QLD, Australia
    Anim Genet 37:407-10. 2006
    ..with a breed-specific non-synonymous substitution in exon 6 of the cyclic nucleotide gated channel beta3 (CNGB3) gene in German Shorthaired Pointer dogs and a genomic deletion removing the entire gene in Alaskan Malamute dogs ..
  63. ncbi International Union of Pharmacology. LI. Nomenclature and structure-function relationships of cyclic nucleotide-regulated channels
    Franz Hofmann
    Institut fur Pharmakologie und Toxikologie, Technische Universitat Munchen, Biedersteiner StraBe 29, D 80802 München, Germany
    Pharmacol Rev 57:455-62. 2005
  64. ncbi The rat melanin-concentrating hormone messenger ribonucleic acid encodes multiple putative neuropeptides coexpressed in the dorsolateral hypothalamus
    J L Nahon
    Clayton Foundation Laboratories for Peptide Biology, Salk Institute for Biological Studies, San Diego, California 92138 9216
    Endocrinology 125:2056-65. 1989
    ..Our results explain the staining of a discrete population of dorso-lateral hypothalamic neurons by heretofore seemingly unrelated antisera and provide evidence for the production of multiple novel neuropeptides from a common precursor...

Research Grants22

  1. Mechanism of Cone Degeneration Resulting from CNG Channel Deficiency
    Xi Qin Ding; Fiscal Year: 2010
    ..Mutations in the two channel subunits, CNGA3 and CNGB3, are associated with achromatopsia and progressive cone dystrophy...
  2. Molecular Mechanisms of Retinal cGMP-Activated Ion Channels
    Michael D Varnum; Fiscal Year: 2011
    ..Recently, we have functionally characterized several disease-associated mutations in the CNGA3 and CNGB3 subunits of cone CNG channels and discovered dramatic effects on channel gating, regulation and/or trafficking, ..
  3. Molecular Mechanisms of Retinal cGMP-Activated Ion Channels
    Michael D Varnum; Fiscal Year: 2010
    ..Recently, we have functionally characterized several disease-associated mutations in the CNGA3 and CNGB3 subunits of cone CNG channels and discovered dramatic effects on channel gating, regulation and/or trafficking, ..
  4. Molecular Mechanisms of Retinal cGMP-Activated Ion Channels
    MICHAEL VARNUM; Fiscal Year: 2009
    ..Recently, we have functionally characterized several disease-associated mutations in the CNGA3 and CNGB3 subunits of cone CNG channels and discovered dramatic effects on channel gating, regulation and/or trafficking, ..
  5. Molecular Mechanisms of Retinal cGMP-Activated Channels
    MICHAEL VARNUM; Fiscal Year: 2007
    ..Native cone photoreceptor CNG channels contain two different subunit types, CNGA3 and CNGB3; the assembly of these divergent subunits creates heteromeric CNG channels with properties optimized for their ..
  6. 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. ..
  7. Achromatopsia - Disease Mechanisms and Cone-Directed Gene Therapy
    Andras Komaromy; Fiscal Year: 2010
    ..In both canine models, loss-of-function mutations in the cone cyclic nucleotide-gated channel beta subunit (CNGB3) lead to a disease phenotype identical to human achromatopsia...
  8. Assessing Photoreceptor Structure and Function in Normal and Diseased Retina
    Joseph Carroll; Fiscal Year: 2010
    ..The work in this proposal will serve as the foundation for translation of this same approach to the future study of other retinal degenerations, which will accelerate progress for the effective implementation of novel therapies. ..
  9. Assessing Photoreceptor Structure and Function in Normal and Diseased Retina
    Joseph Carroll; Fiscal Year: 2009
    ..The work in this proposal will serve as the foundation for translation of this same approach to the future study of other retinal degenerations, which will accelerate progress for the effective implementation of novel therapies. ..
  10. Organization of the Trichromatic Cone Mosaic
    Joseph Carroll; Fiscal Year: 2005
    ..This will be done in subjects for whom we also have a representation of their cone mosaic, to be able to selectively stimulate cones from a particular class. ..
  11. Achromatopsia - Disease Mechanisms and Cone-Directed Gene Therapy
    Andras Komaromy; Fiscal Year: 2010
    ..In both canine models, loss-of-function mutations in the cone cyclic nucleotide-gated channel beta subunit (CNGB3) lead to a disease phenotype identical to human achromatopsia...
  12. 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. ..
  13. Assessing Photoreceptor Structure and Function in Normal and Diseased Retina
    Joseph Carroll; Fiscal Year: 2009
    ..The work in this proposal will serve as the foundation for translation of this same approach to the future study of other retinal degenerations, which will accelerate progress for the effective implementation of novel therapies. ..