Gja8

Summary

Gene Symbol: Gja8
Description: gap junction protein, alpha 8
Alias: Aey5, Cnx50, Cx50, Lop10, gap junction alpha-8 protein, alpha 8 connexin, connexin-50, gap junction membrane channel protein alpha 8, lens fiber protein MP70, lens opacity 10
Species: mouse

Top Publications

  1. ncbi Chromosomal assignments of mouse genes for connexin 50 and connexin 33 by somatic cell hybridization
    H J Schwarz
    Abt Molekulargenetik, Universitat Bonn, Germany
    Somat Cell Mol Genet 20:243-7. 1994
  2. ncbi The genes of the lysosomal cysteine proteinases cathepsin B, H, L, and S map to different mouse chromosomes
    J Deussing
    Zentrum Biochemie und Molekulare Zellbiologie, Abt Biochemie II, Universitat Gottingen, Gosslerstrasse 12d, 37073 Gottingen, Germany
    Mamm Genome 8:241-5. 1997
  3. pmc Gap junctional coupling in lenses lacking alpha3 connexin
    X Gong
    Department of Cell Biology, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Proc Natl Acad Sci U S A 95:15303-8. 1998
  4. ncbi Connexin50 is essential for normal postnatal lens cell proliferation
    Caterina Sellitto
    Department of Physiology and Biophysics, State University of New York, Stony Brook, New York, 11794 8661, USA
    Invest Ophthalmol Vis Sci 45:3196-202. 2004
  5. ncbi Inversion of both gating polarity and CO2 sensitivity of voltage gating with D3N mutation of Cx50
    Camillo Peracchia
    Department of Pharmacology and Physiology, University of Rochester School of Medicine, 601 Elmwood Ave, Rochester, NY 14642 8711, USA
    Am J Physiol Cell Physiol 288:C1381-9. 2005
  6. ncbi Unique and redundant connexin contributions to lens development
    Thomas W White
    Department of Physiology and Biophysics, State University of New York at Stony Brook, Stony Brook, NY 11794, USA
    Science 295:319-20. 2002
  7. ncbi Prenatal lens development in connexin43 and connexin50 double knockout mice
    T W White
    Department of Physiology and Biophysics, State University of New York, Stony Brook 11794 8661, USA
    Invest Ophthalmol Vis Sci 42:2916-23. 2001
  8. ncbi Defining a link between gap junction communication, proteolysis, and cataract formation
    A Baruch
    Department of Biochemistry and Biophysics, University of California, San Francisco, California 94143, USA
    J Biol Chem 276:28999-9006. 2001
  9. ncbi The cataract-inducing S50P mutation in Cx50 dominantly alters the channel gating of wild-type lens connexins
    Adam M DeRosa
    Department of Physiology and Biophysics and the Graduate Program in Genetics, State University of New York, Stony Brook, NY 11794, USA
    J Cell Sci 120:4107-16. 2007
  10. pmc Gap junction communication influences intercellular protein distribution in the lens
    Catherine Cheng
    UC Berkeley UCSF Joint Graduate Program in Bioengineering, University of California, Berkeley, Berkeley, CA, USA
    Exp Eye Res 86:966-74. 2008

Research Grants

  1. Structure Function in Low Resistance Junctions
    Camillo Peracchia; Fiscal Year: 2005

Scientific Experts

  • T W White
  • V M Berthoud
  • J Graw
  • Camillo Peracchia
  • A Forge
  • Subhash C Juneja
  • R Marc Pelletier
  • June Chung
  • Lisa Ebihara
  • M C Hart
  • Miklos Peterfy
  • Irene Dunia
  • Xiaohua Gong
  • Chun hong Xia
  • Adam M DeRosa
  • Catherine Cheng
  • Caterina Sellitto
  • Li Xin
  • Leping Li
  • Lin Li
  • Francisco J Martinez-Wittinghan
  • Donglin Bai
  • Bo Chang
  • Birthe Dorgau
  • Debra Cheung
  • Xiaoling Tong
  • Tomitake Tsukihara
  • Rupalatha Maddala
  • Woo kuen Lo
  • Bhagwat V Alapure
  • Zhifang Chai
  • Yanyi Chen
  • Richard T Mathias
  • Goran Sohl
  • Baskar Bakthavachalu
  • Teresa I Shakespeare
  • Miduturu Srinivas
  • Daniel A Goodenough
  • Jing Zhao
  • Basilio A Kotsias
  • Peter R Brink
  • N M Kumar
  • G J Baldo
  • N B Gilula
  • Annalisa Buniello
  • Junyuan Gao
  • Julia von Maltzahn
  • Lucio E Benedetti
  • Klaus Willecke
  • X Gong
  • Peter A Nielsen
  • Dwan A Gerido
  • Ulrike Janssen-Bienhold
  • Regina Herrling
  • Petra Bolte
  • Sebastian Ströh
  • Reto Weiler
  • Jasmin Segelken
  • Konrad Schultz
  • Karin Dedek
  • Helena Greb
  • Pei Rong
  • Ling Zhou
  • Jackie S Bodnar
  • Satoshi Yamashita
  • Xin Wang
  • Hiroshi Aoyama
  • Kevin L Schey
  • Tharkika Nagendran
  • Gustaaf G de Ridder
  • Ponugoti Vasantha Rao
  • Jaime K Stull
  • So Nakagawa
  • Zeynep Firtina
  • Melinda K Duncan
  • A Baruch
  • Yubin Zhou
  • Charles F Louis
  • Richard D Veenstra
  • Monica M Lurtz
  • Hing Cheung Wong
  • David L Paul
  • Jie Jiang
  • Xianming Lin
  • Qin Xu
  • Jenny J Yang
  • Siming Wang
  • Sanjeev Galande
  • Daniel A Fletcher
  • Pradeep Parab

Detail Information

Publications70

  1. ncbi Chromosomal assignments of mouse genes for connexin 50 and connexin 33 by somatic cell hybridization
    H J Schwarz
    Abt Molekulargenetik, Universitat Bonn, Germany
    Somat Cell Mol Genet 20:243-7. 1994
    ..X Chinese hamster somatic cell hybrids and molecular probes of murine connexin genes, we have assigned the connexin 50 gene to mouse chromosome 3...
  2. ncbi The genes of the lysosomal cysteine proteinases cathepsin B, H, L, and S map to different mouse chromosomes
    J Deussing
    Zentrum Biochemie und Molekulare Zellbiologie, Abt Biochemie II, Universitat Gottingen, Gosslerstrasse 12d, 37073 Gottingen, Germany
    Mamm Genome 8:241-5. 1997
    ....
  3. pmc Gap junctional coupling in lenses lacking alpha3 connexin
    X Gong
    Department of Cell Biology, The Scripps Research Institute, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Proc Natl Acad Sci U S A 95:15303-8. 1998
    ..cells of the lens are interconnected by an extensive network of gap junctions containing alpha3 (Cx46) and alpha8 (Cx50) connexins. A specific role for these connexins in lens homeostasis is not known...
  4. ncbi Connexin50 is essential for normal postnatal lens cell proliferation
    Caterina Sellitto
    Department of Physiology and Biophysics, State University of New York, Stony Brook, New York, 11794 8661, USA
    Invest Ophthalmol Vis Sci 45:3196-202. 2004
    Connexin50 (Cx50) is absolutely essential for normal postnatal lens growth. Deletion of Cx50 or replacement with Cx46 by knockin resulted in smaller lenses containing fewer cells...
  5. ncbi Inversion of both gating polarity and CO2 sensitivity of voltage gating with D3N mutation of Cx50
    Camillo Peracchia
    Department of Pharmacology and Physiology, University of Rochester School of Medicine, 601 Elmwood Ave, Rochester, NY 14642 8711, USA
    Am J Physiol Cell Physiol 288:C1381-9. 2005
    ..on transjunctional voltage (V(j)) gating was studied by dual voltage-clamp in oocytes expressing mouse connexin 50 (Cx50) or a Cx50 mutant (Cx50-D3N), in which the third residue, aspartate (D), was mutated to asparagine (N)...
  6. ncbi Unique and redundant connexin contributions to lens development
    Thomas W White
    Department of Physiology and Biophysics, State University of New York at Stony Brook, Stony Brook, NY 11794, USA
    Science 295:319-20. 2002
    ..Knockout of Cx46 causes a loss of homeostasis and cataracts. Deletion of Cx50 results in reduced ocular growth and cataracts...
  7. ncbi Prenatal lens development in connexin43 and connexin50 double knockout mice
    T W White
    Department of Physiology and Biophysics, State University of New York, Stony Brook 11794 8661, USA
    Invest Ophthalmol Vis Sci 42:2916-23. 2001
    To determine the roles of intercellular communication in embryonic eye growth and development, mice with a targeted deletion of the Cx43 gene were examined, and mice without both Cx43 and Cx50 were generated and analyzed.
  8. ncbi Defining a link between gap junction communication, proteolysis, and cataract formation
    A Baruch
    Department of Biochemistry and Biophysics, University of California, San Francisco, California 94143, USA
    J Biol Chem 276:28999-9006. 2001
    ....
  9. ncbi The cataract-inducing S50P mutation in Cx50 dominantly alters the channel gating of wild-type lens connexins
    Adam M DeRosa
    Department of Physiology and Biophysics and the Graduate Program in Genetics, State University of New York, Stony Brook, NY 11794, USA
    J Cell Sci 120:4107-16. 2007
    Mutations within connexin50 (Cx50) have been linked to various cataract phenotypes...
  10. pmc Gap junction communication influences intercellular protein distribution in the lens
    Catherine Cheng
    UC Berkeley UCSF Joint Graduate Program in Bioengineering, University of California, Berkeley, Berkeley, CA, USA
    Exp Eye Res 86:966-74. 2008
    ..Although the mechanism that drives GFP transport between fiber cells remains unknown, this work reveals that gap junction communication plays a novel role in the regulation of intercellular protein distribution in the lens...
  11. ncbi Genetic diseases and gene knockouts reveal diverse connexin functions
    T W White
    Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA
    Annu Rev Physiol 61:283-310. 1999
    ..In addition, gene targeting of connexins in mice has provided new insights into connexin function and the significance of connexin diversity...
  12. pmc The cataract causing Cx50-S50P mutant inhibits Cx43 and intercellular communication in the lens epithelium
    Adam M DeRosa
    Department of Physiology and Biophysics, State University of New York, T5 147, Basic Science Tower, Stony Brook, NY 11794 8661, USA
    Exp Cell Res 315:1063-75. 2009
    Mutations in Connexin50 (Cx50) cause cataracts in both humans and mice. The mechanism(s) behind how mutated connexins lead to a variety of cataracts have yet to be fully elucidated...
  13. pmc Gap junctional coupling in lenses from alpha(8) connexin knockout mice
    G J Baldo
    Department of Physiology and Biophysics, State University of New York, Stony Brook, NY 11794 8661, USA
    J Gen Physiol 118:447-56. 2001
    Lens fiber cell gap junctions contain alpha(3) (Cx46) and alpha(8) (Cx50) connexins. To examine the roles of the two different connexins in lens physiology, we have genetically engineered mice lacking either alpha(3) or alpha(8) connexin...
  14. pmc Functional characterization of a naturally occurring Cx50 truncation
    Adam M DeRosa
    Graduate Program in Genetics, State University of New York, Stony Brook, NY 11794 8661, USA
    Invest Ophthalmol Vis Sci 47:4474-81. 2006
    ..This study evaluates the functional consequences of this endogenous truncation by characterizing the properties of a C-terminal truncated Cx50 protein.
  15. ncbi Disruption of Gja8 (alpha8 connexin) in mice leads to microphthalmia associated with retardation of lens growth and lens fiber maturation
    Pei Rong
    Department of Cell Biology, The Scripps Research Institute, La Jolla, 10550 North Torrey Pines Road, La Jolla, CA 92037, USA
    Development 129:167-74. 2002
    ..communication network via gap junction channels, which are made up of at least three connexin isoforms, alpha8 (Cx50), alpha3 (Cx46) and alpha1 (Cx43), and which are encoded by three different genes...
  16. ncbi Absence of alpha3 (Cx46) and alpha8 (Cx50) connexins leads to cataracts by affecting lens inner fiber cells
    Chun hong Xia
    School of Optometry and Vision Science Program, University of California at Berkeley, 693 Minor Hall, Berkeley, CA 94720 2020, USA
    Exp Eye Res 83:688-96. 2006
    ..have been hypothesized to depend on intercellular gap junction channels, consisting of alpha3 (Cx46) and alpha8 (Cx50) connexin subunits, to transport metabolites, secondary messages and ions between lens cells...
  17. ncbi A Gja8 (Cx50) point mutation causes an alteration of alpha 3 connexin (Cx46) in semi-dominant cataracts of Lop10 mice
    Bo Chang
    The Jackson Laboratory, Bar Harbor, ME, USA
    Hum Mol Genet 11:507-13. 2002
    ..We recently mapped an autosomal semi-dominant cataract [lens opacity 10 (Lop10)] mutation to mouse chromosome 3 and identified a missense mutation (G-->C) in the Gja8 gene, which ..
  18. ncbi Diverse gap junctions modulate distinct mechanisms for fiber cell formation during lens development and cataractogenesis
    Chun hong Xia
    School of Optometry and Vision Science Program, University of California at Berkeley, Berkeley, CA 94720, USA
    Development 133:2033-40. 2006
    Different mutations of alpha3 connexin (Cx46 or Gja8) and alpha8 connexin (Cx50 or Gja8), subunits of lens gap junction channels, cause a variety of cataracts via unknown mechanisms...
  19. ncbi Genetic background influences cataractogenesis, but not lens growth deficiency, in Cx50-knockout mice
    Dwan A Gerido
    Department of Physiology and Biophysics, State University of New York, Stony Brook, New York 11794 8661, USA
    Invest Ophthalmol Vis Sci 44:2669-74. 2003
    ..whether these two traits are influenced by genetic background and are dependent on each other, mice carrying the Cx50 deletion in two different strains were generated, and the growth defect and severity of cataracts were analyzed.
  20. pmc Dominant cataracts result from incongruous mixing of wild-type lens connexins
    Francisco J Martinez-Wittinghan
    Department of Physiology and Biophysics, State University of New York, Stony Brook 11794, USA
    J Cell Biol 161:969-78. 2003
    ..In the lens, Cx46 and Cx50 provide the gap junctional coupling needed for homeostasis and growth...
  21. pmc Lens connexins alpha3Cx46 and alpha8Cx50 interact with zonula occludens protein-1 (ZO-1)
    Peter A Nielsen
    Department of Cell Biology, The Scripps Research Institute, La Jolla, California 92037, USA
    Mol Biol Cell 14:2470-81. 2003
    ..The spatial variation in the interaction of ZO-1 with lens gap junctions is intriguing and is suggestive of multiple dynamic roles for this association...
  22. pmc Mouse Cx50, a functional member of the connexin family of gap junction proteins, is the lens fiber protein MP70
    T W White
    Program in Cell and Developmental Biology, Harvard Medical School, Boston, Massachusetts 02115
    Mol Biol Cell 3:711-20. 1992
    ..gap junction proteins, Cx50, and have shown that it is likely to correspond to the previously described lens fiber protein MP70. The N-terminal amino acid sequence of MP70 closely matches the sequence predicted by the clone...
  23. pmc Connections between connexins, calcium, and cataracts in the lens
    Junyuan Gao
    Department of Physiology and Biophysics, State University of New York at Stony Brook, NY 11794, USA
    J Gen Physiol 124:289-300. 2004
    ..test this calcium circulation hypothesis by studying calcium homeostasis in connexin (Cx46) knockout and (Cx46 for Cx50) knockin mouse lenses, which have different degrees of gap junction coupling...
  24. ncbi Lens gap junctional coupling is modulated by connexin identity and the locus of gene expression
    Francisco J Martinez-Wittinghan
    Department of Physiology and Biophysics, State University of New York, Stony Brook, New York 11794 8661, USA
    Invest Ophthalmol Vis Sci 45:3629-37. 2004
    ..To investigate the effects of reducing connexin (Cx) diversity in the lens when the amount of connexin protein is nearly constant...
  25. ncbi Knock-in of alpha3 connexin prevents severe cataracts caused by an alpha8 point mutation
    Chun hong Xia
    School of Optometry and Vision Science Program, University of California at Berkeley, Berkeley, CA, USA
    J Cell Sci 119:2138-44. 2006
    A G22R point mutation in alpha8 connexin (Cx50) has been previously shown to cause a severe cataract by interacting with endogenous wild-type alpha3 connexin (Cx46) in mouse lenses...
  26. pmc Targeted ablation of connexin50 in mice results in microphthalmia and zonular pulverulent cataracts
    T W White
    Department of Cell Biology and Department of Neurobiology, Harvard Medical School, Boston, Massachusetts 02115, USA
    J Cell Biol 143:815-25. 1998
    ..Gap junctions in rodent lens fibers contain two known intercellular channel-forming proteins, connexin50 (Cx50) and Cx46...
  27. ncbi Autosomal dominant mouse cataract (Lop-10). Consistent differences of expression in heterozygotes
    P E Runge
    Jules Stein Eye Institute, UCLA Medical Center
    Invest Ophthalmol Vis Sci 33:3202-8. 1992
    ..Lop-10 appeared to be an excellent model for studying variable expression of a dominant gene...
  28. ncbi Gap junction formation during development of the mouse lens
    C W Evans
    Department of Zoology, University of Auckland, New Zealand
    Eur J Cell Biol 60:243-9. 1993
    ..Our results suggest that gap junctions in the central region of the developing mouse lens undergo sequential changes in immunoreactivity which may reflect potentially distinct functional phases of intercellular communication...
  29. pmc The unfolded protein response is activated in connexin 50 mutant mouse lenses
    Bhagwat V Alapure
    Department of Biological Sciences, University of Delaware, 327 Wolf Hall, The Green, Newark, DE 19716, USA
    Exp Eye Res 102:28-37. 2012
    ..While mutations in the gene for connexin 50 are known to cause autosomal dominant cataracts, it has not been previously reported whether mutant connexins ..
  30. pmc L-type calcium channels play a critical role in maintaining lens transparency by regulating phosphorylation of aquaporin-0 and myosin light chain and expression of connexins
    Rupalatha Maddala
    Department of Ophthalmology, Duke University School of Medicine, Durham, North Carolina, USA
    PLoS ONE 8:e64676. 2013
    ....
  31. pmc Connexin50D47A decreases levels of fiber cell connexins and impairs lens fiber cell differentiation
    Viviana M Berthoud
    Department of Pediatrics, University of Chicago, Chicago, Illinois
    Invest Ophthalmol Vis Sci 54:7614-22. 2013
    Substitutions of aspartate-47 (D47) of Connexin50 (Cx50) have been linked to autosomal dominant congenital cataracts in several human pedigrees...
  32. pmc Cx46 hemichannels contribute to the sodium leak conductance in lens fiber cells
    Lisa Ebihara
    Department of Physiology and Biophysics, Rosalind Franklin University of Medicine and Science, North Chicago, Illinois
    Am J Physiol Cell Physiol 306:C506-13. 2014
    ..to the basal membrane permeability of peripheral fiber cells isolated from transgenic mouse lenses lacking Cx50 or both Cx50 and Cx46 (dKO) using the whole cell patch-clamp technique...
  33. pmc Connexin46fs380 causes progressive cataracts
    Viviana M Berthoud
    Department of Pediatrics, University of Chicago, Chicago, Illinois, United States
    Invest Ophthalmol Vis Sci 55:6639-48. 2014
    ..The current experiments were designed to characterize the consequences of expression of one such mutant, Cx46fs380, in the mouse lens...
  34. pmc Charge at the 46th residue of connexin 50 is crucial for the gap-junctional unitary conductance and transjunctional voltage-dependent gating
    Xiaoling Tong
    Department of Physiology and Pharmacology, Western University, London, Ontario, Canada
    J Physiol 592:5187-202. 2014
    ..Specifically, G46D and G46E increased the Cx50 γj from 201 to 256 and 293 pS, respectively and the G46K channel showed an apparent γj of only 20 pS...
  35. doi Connexin50 couples axon terminals of mouse horizontal cells by homotypic gap junctions
    Birthe Dorgau
    Department of Neurobiology, University of Oldenburg, D 26111, Oldenburg, Germany
    J Comp Neurol 523:2062-81. 2015
    ..We investigated the expression of Cx50, which was recently identified in axonless A-type horizontal cells of the rabbit retina...
  36. pmc Complementary expression and phosphorylation of Cx46 and Cx50 during development and following gene deletion in mouse and in normal and orchitic mink testes
    R Marc Pelletier
    Department of Pathology and Cell Biology, Universite de Montreal, Quebec, Canada and
    Am J Physiol Regul Integr Comp Physiol 309:R255-76. 2015
    ..This report assesses mechanisms underlying the regulation of connexin 46 (Cx46) and Cx50 in mouse testis and those accompanying a "natural" seasonal and a pathological arrest of spermatogenesis, resulting ..
  37. pmc The Cataract-linked Mutant Connexin50D47A Causes Endoplasmic Reticulum Stress in Mouse Lenses
    Viviana M Berthoud
    From the Department of Pediatrics and
    J Biol Chem 291:17569-78. 2016
    ....
  38. ncbi Structural changes in lenses of mice lacking the gap junction protein connexin43
    Y Gao
    Department of Neuroscience, Rose F Kennedy Center, Albert Einstein College of Medicine, Bronx, New York 10461, USA
    Invest Ophthalmol Vis Sci 39:1198-209. 1998
    ..To investigate the role of the gap junction protein connexin43 (Cx43), which is predominantly expressed in lens epithelial cells in the control of lens development and organization...
  39. pmc Cx50 requires an intact PDZ-binding motif and ZO-1 for the formation of functional intercellular channels
    Zhifang Chai
    Department of Neurobiology, Harvard Medical School, Boston, MA 02115, USA
    Mol Biol Cell 22:4503-12. 2011
    ..We found that Cx50 with PDZ-binding motif mutations did not form gap junction plaques or induce cell-cell communication in HeLa cells, ..
  40. pmc Cataracts and microphthalmia caused by a Gja8 mutation in extracellular loop 2
    Chun hong Xia
    School of Optometry and Vision Science Program, University of California, Berkeley, California, United States of America
    PLoS ONE 7:e52894. 2012
    ..This mutation is caused by a Gja8(R205G) point mutation in the second extracellular loop of the Cx50 (or α8 connexin) protein...
  41. pmc Aspartic acid residue D3 critically determines Cx50 gap junction channel transjunctional voltage-dependent gating and unitary conductance
    Li Xin
    Graduate Program of Neuroscience, Department of Physiology and Pharmacology, University of Western Ontario, London, Ontario, Canada
    Biophys J 102:1022-31. 2012
    ..acid residue (D) at the third position is critical in determining the voltage polarity of fast V(j)-gating of Cx50 channels...
  42. ncbi Diverse functions of vertebrate gap junctions
    A M Simon
    Dept of Neurobiology, Harvard Medical School, Boston, MA 02115, USA
    Trends Cell Biol 8:477-83. 1998
    ....
  43. pmc Interaction between Connexin50 and mitogen-activated protein kinase signaling in lens homeostasis
    Teresa I Shakespeare
    Department of Physiology and Biophysics, Stony Brook University, Stony Brook, NY 11794 8661, USA
    Mol Biol Cell 20:2582-92. 2009
    ..Activation of MAPK signaling pathways significantly increased coupling provided by Cx50, but not Cx46, in paired Xenopus laevis oocytes in vitro, as well as between freshly isolated lens cells in vivo...
  44. pmc Connexin mediated cataract prevention in mice
    Lin Li
    Vision Science Program and School of Optometry, University of California, Berkeley, California, United States of America
    PLoS ONE 5:. 2010
    ..Thus, the use of an array of small molecules to promote lens homeostasis may become a feasible non-surgical approach for nuclear cataract prevention in the future...
  45. pmc Properties of connexin 46 hemichannels in dissociated lens fiber cells
    Lisa Ebihara
    Departments of Physiology and Biophysics, Rosalind Franklin School of Medicine and Science, North Chicago, Illinois 60064, USA
    Invest Ophthalmol Vis Sci 52:882-9. 2011
    ..To characterize the properties of connexin 46 hemichannels in differentiating fiber cells isolated from mouse lenses...
  46. ncbi Dense cataract and microphthalmia (dcm) in BALB/c mice is caused by mutations in the GJA8 locus
    Baskar Bakthavachalu
    National Centre for Cell Science, Ganeshkhind, India
    J Genet 89:147-54. 2010
    ..3 and further mapping and sequence analysis identified the mutation in the GJA8 gene that encodes for connexin 50. The mutation represents a single nucleotide change at position 64 (G to C) that results in a change in the ..
  47. pmc The role of amino terminus of mouse Cx50 in determining transjunctional voltage-dependent gating and unitary conductance
    Li Xin
    The University of Western Ontario, London, Ontario, Canada
    Biophys J 99:2077-86. 2010
    ..To better understand the molecular structure(s) determining the V(j)-gating properties and the γ(j) of Cx50, we have replaced part of the amino-terminus of mCx50 by the corresponding domain of mCx36 to engineer a chimera ..
  48. pmc Molecular interaction and functional regulation of connexin50 gap junctions by calmodulin
    Yanyi Chen
    Department of Chemistry, Georgia State University, Atlanta, GA 30303, USA
    Biochem J 435:711-22. 2011
    b>Cx50 (connexin50), a member of the α-family of gap junction proteins expressed in the lens of the eye, has been shown to be essential for normal lens development...
  49. ncbi A mutation in the connexin 50 (Cx50) gene is a candidate for the No2 mouse cataract
    E C Steele
    Emory Eye Center, Emory University School of Medicine, Atlanta, GA 30322, USA
    Curr Eye Res 17:883-9. 1998
    ..The aim of this work was to identify and subsequently screen an optimal candidate gene for a mutation correlated and consistent with the observed phenotype...
  50. ncbi Characterization and chromosomal mapping of two pseudogenes of the mouse Pafaha/Lis1 gene: retrointegration hotspots in the mouse genome
    M Peterfy
    Department of Biomedical Science, Amgen Inc, Thousand Oaks, CA 91320 1789, USA
    Gene 216:225-31. 1998
    ..Our results indicate that only one of the three LIS1-related mouse loci (Pafaha/Lis1) is functional, in contrast with two closely related functional genes (LIS1 and LIS2) reported in humans. 1998 Elsevier Science B.V...
  51. ncbi Mapping of the mouse actin capping protein alpha subunit genes and pseudogenes
    M C Hart
    Department of Cell Biology and Physiology, Washington University School of Medicine, St Louis, MO 63110, USA
    Genomics 39:264-70. 1997
    ..One mouse mutation, de, maps in the vicinity of the alpha 1 gene. No known mouse mutations map to regions near the alpha 2 or alpha 3 genes...
  52. ncbi Mapping of four mouse genes encoding eye lens-specific structural, gap junction, and integral membrane proteins: Cryba1 (crystallin beta A3/A1), Crybb2 (crystallin beta B2), Gja8 (MP70), and Lim2 (MP19)
    S Kerscher
    MRC Radiobiology Unit, Didcot, Oxfordshire, United Kingdom
    Genomics 29:445-50. 1995
    ..The other two genes encode lens-specific gap junction and integral membrane proteins, respectively: The Gja8 locus encoding gap juction membrane channel protein alpha8, also called connexin50 or MP70, maps to chromosome 3, ..
  53. ncbi Multiple members of the connexin gene family participate in preimplantation development of the mouse
    T C Davies
    Department of Zoology, University of Western Ontario, London, Canada
    Dev Genet 18:234-43. 1996
    ..The expression of multiple connexin genes during this early period of embryogenesis (when there are only two distinct cell types) raises questions about the functional significance of connexin diversity in this context...
  54. ncbi A comparison of the dominant cataract and recessive specific-locus mutation rates induced by treatment of male mice with ethylnitrosourea
    J Favor
    Mutat Res 110:367-82. 1983
  55. ncbi Characterization of a mutation in the lens-specific MP70 encoding gene of the mouse leading to a dominant cataract
    J Graw
    GSF National Research Center for Environment and Health, Institute of Mammalian Genetics, Neuherberg, D 85764, Germany
    Exp Eye Res 73:867-76. 2001
    ..This mutation results in Val-->Ala substitution at codon 64 of connexin50 (Cx50) also known as lens membrane protein 70 (MP70)...
  56. ncbi mRNA expression pattern of multiple members of connexin gene family in normal and abnormal fetal gonads in mouse
    Subhash C Juneja
    Department of Zoology, The University of Western Ontario, London, Canada
    Indian J Physiol Pharmacol 47:147-56. 2003
    ..The mRNA expression pattern of connexins (Cx26, Cx30.3, Cx31, Cx31.1, Cx32, Cx37, Cx40, Cx43, Cx45, Cx46 and Cx50) was analyzed by RT-PCR...
  57. ncbi An update on connexin genes and their nomenclature in mouse and man
    Goran Sohl
    Institut fur Genetik, Universitat Bonn, Germany
    Cell Commun Adhes 10:173-80. 2003
    ..Furthermore, this short review contains an update on phenotypic correlations between connexin deficient mice and patients bearing mutations in their orthologous connexin genes...
  58. ncbi Gap junctions in the inner ear: comparison of distribution patterns in different vertebrates and assessement of connexin composition in mammals
    Andrew Forge
    UCL Centre for Auditory Research and Institute of Laryngology and Otology, University College London, London WC1X 8EE, United Kingdom
    J Comp Neurol 467:207-31. 2003
    ..Heteromeric cx26/cx30 connexons may be unique to the inner ear, which could be one factor underlying the non-syndromic character of the deafness caused by mutations in cx26...
  59. ncbi The novel mouse connexin39 gene is expressed in developing striated muscle fibers
    Julia von Maltzahn
    Institut fur Genetik, Abteilung Molekulargenetik, Universitat Bonn, Römerstr 164, 53117 Bonn, Germany
    J Cell Sci 117:5381-92. 2004
    ..As expression of no other known connexin could be verified in these cells, intercellular dye transfer might result from functional expression of Cx39 in developing striated muscle fibers...
  60. ncbi Mapping of A gene responsible for cataract formation and its modifier in the UPL rat
    Satoshi Yamashita
    Carcinogenesis Division, National Cancer Center Research Institute, Tokyo, Japan
    Invest Ophthalmol Vis Sci 43:3153-9. 2002
    ..In this study, a gene and its modifier, which are responsible for formation of cataract, were mapped...
  61. ncbi Temporal expression of three mouse lens fiber cell membrane protein genes during early development
    Ling Zhou
    Department of Ophthalmology, Emory University School of Medicine, Atlanta, GA, USA
    Mol Vis 8:143-8. 2002
    Three different lens fiber cell intrinsic membrane proteins, MIP (Major Intrinsic Protein), MP19, and connexin50 (Cx50), have separately been implicated as causative candidates for congenital cataracts...
  62. ncbi An expression atlas of connexin genes in the mouse
    Annalisa Buniello
    Telethon Institute of Genetics and Medicine, Via P Castellino 111, 80131 Naples, Italy
    Genomics 83:812-20. 2004
    ....
  63. ncbi Structural and immunocytochemical alterations in eye lens fiber cells from Cx46 and Cx50 knockout mice
    Irene Dunia
    Biologie Cellulaire, Institut Jacques Monod, CNRS, Universités Paris 6 Paris 7, 2, place Jussieu, F 75251 Paris Cedex 5, France
    Eur J Cell Biol 85:729-52. 2006
    ..the current study we describe the changes of overall organization of lens fiber cells in connexin 46 (Cx46) and connexin 50 (Cx50) knockout mice...
  64. pmc Positional cloning of the combined hyperlipidemia gene Hyplip1
    Jackie S Bodnar
    Department of Medicine, University of California, Los Angeles, 47 123 CHS, UCLA School of Medicine, Los Angeles, California 90095, USA
    Nat Genet 30:110-6. 2002
    ..These results reveal a new pathway of potential clinical significance that contributes to plasma lipid metabolism...
  65. pmc Transgenic overexpression of connexin50 induces cataracts
    June Chung
    Department of Pediatrics, University of Chicago, IL 60637, USA
    Exp Eye Res 84:513-28. 2007
    To examine the effects of increased expression of Cx50 in the mouse lens, transgenic mice were generated using a DNA construct containing the human Cx50 coding region and a C-terminal FLAG epitope driven by the chicken betaB1-crystallin ..
  66. ncbi Interplay between cystic fibrosis transmembrane regulator and gap junction channels made of connexins 45, 40, 32 and 50 expressed in oocytes
    Basilio A Kotsias
    Department of Pharmacology and Physiology, University of Rochester School of Medicine, 601 Elmwood Avenue, Rochester, NY 14642 8711, USA
    J Membr Biol 214:1-8. 2006
    ..between CFTR and gap junction channels, we coexpressed in Xenopus oocytes CFTR and either Cx45, Cx40, Cx32 or Cx50 and monitored junctional conductance (G (j)) and its sensitivity to transjunctional voltage (V (j)) by the dual ..
  67. pmc MARCKS-like protein, a membrane protein identified for its expression in developing neural retina, plays a role in regulating retinal cell proliferation
    Jing Zhao
    Department of Molecular and Developmental Biology, Institute of Medical Science, University of Tokyo, 4 6 1 Shirokanedai, Minato ku, 108 8639, Tokyo, Japan
    Biochem J 408:51-9. 2007
    ..Mutation analysis of MLP demonstrated that myristoylation was necessary to promote proliferation and that phosphorylation inhibited proliferation, indicating the functional importance of membrane localization...
  68. ncbi Optimal lens epithelial cell proliferation is dependent on the connexin isoform providing gap junctional coupling
    Thomas W White
    Department of Physiology and Biophysics, Stony Brook University, Stony Brook, New York, USA
    Invest Ophthalmol Vis Sci 48:5630-7. 2007
    Gap junctions between epithelial cells are essential for normal lens growth. In mice, knockout of Cx50 or targeted replacement of Cx50 with Cx46 (knockin) caused smaller lenses because of decreased epithelial cell proliferation...
  69. ncbi Characterization of a mouse Cx50 mutation associated with the No2 mouse cataract
    X Xu
    Department of Physiology and Biophysics, FUHS The Chicago Medical School, North Chicago, Illinois 60064, USA
    Invest Ophthalmol Vis Sci 40:1844-50. 1999
    Recently, a missense mutation in the mouse connexin 50 (Cx50) gene has been associated with the nuclear opacity 2 (No2) mouse cataract...
  70. ncbi Synergistic gene interactions control the induction of the mitochondrial uncoupling protein (Ucp1) gene in white fat tissue
    R A Koza
    Pennington Biomedical Research Center, Baton Rouge, Louisiana 70808, USA
    J Biol Chem 275:34486-92. 2000
    ..In addition to selective synergistic interactions between loci, variations in recessive and dominant effects also contribute to the final levels of Ucp1 expression...

Research Grants1

  1. Structure Function in Low Resistance Junctions
    Camillo Peracchia; Fiscal Year: 2005
    ..The relevance of a potential CaM binding site identified in connexins (similar to that of CaM kinase II) will be tested with deletion and mutation of crucial Cx32 residues. ..