A dominant connexin 43 mutant does not have dominant effects on gap junction coupling in astrocytes

Neuron Glia Biology

Volumn 6, Issue 4, 2010, Pages 213-223

  Wasseff, Sameh ^a   Abrams, Charles K ^b   Scherer, Steven S ^a  

^a UNIVERSITY OF PENNSYLVANIA   (United States)

^b SUNY Downstate Medical Center   (United States)

Author keywords

astrocytes; connexin; ODDD

Indexed keywords

CONNEXIN 43; GAP JUNCTION PROTEIN; LUCIFER YELLOW; MUTANT PROTEIN; SULFORHODAMINE B; GJA1 PROTEIN, MOUSE; GLIAL FIBRILLARY ACIDIC PROTEIN; GREEN FLUORESCENT PROTEIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; ASTROCYTE; BRAIN SLICE; CONTROLLED STUDY; ELECTRON MICROSCOPY; ELECTROPHYSIOLOGY; GAP JUNCTION; GENE MUTATION; GENETIC CODE; GENETIC TRANSFECTION; IMMUNOCYTOCHEMISTRY; IMMUNOHISTOCHEMISTRY; IMMUNOPRECIPITATION; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; OCULODENTODIGITAL SYNDROME; PATCH CLAMP; PHENOTYPE; PRIORITY JOURNAL; ANIMAL; BIOPHYSICS; BRAIN CORTEX; C57BL MOUSE; CELL CULTURE; CELL JUNCTION; CELL MEMBRANE POTENTIAL; COCULTURE; CYTOLOGY; ELECTROSTIMULATION; GENETICS; HEART MUSCLE CELL; HUMAN; IN VITRO STUDY; METHODOLOGY; MUTATION; NEWBORN; PHYSIOLOGY; PROTEIN TERTIARY STRUCTURE; TRANSGENIC MOUSE; ULTRASTRUCTURE;

MUS;

ANIMALS; ANIMALS, NEWBORN; ASTROCYTES; BIOPHYSICS; CELLS, CULTURED; CEREBRAL CORTEX; COCULTURE TECHNIQUES; CONNEXIN 43; ELECTRIC STIMULATION; GAP JUNCTIONS; GLIAL FIBRILLARY ACIDIC PROTEIN; GREEN FLUORESCENT PROTEINS; HUMANS; IMMUNOPRECIPITATION; MEMBRANE POTENTIALS; MICE; MICE, INBRED C57BL; MICE, TRANSGENIC; MUTATION; MYOCYTES, CARDIAC; PATCH-CLAMP TECHNIQUES; PROTEIN STRUCTURE, TERTIARY; TRANSFECTION;

EID: 84857033434     PISSN: 1740925X     EISSN: 17410533     Source Type: Journal    
DOI: 10.1017/S1740925X11000019     Document Type: Article

References (61)

1. Alao M.J., Bonneau D., Holder-Espinasse M., Goizet C., Manouvrier-Hanu S., Mezel A. et al. (2010) Oculo-dento-digital dysplasia: lack of genotype-phenotype correlation for GJA1 mutations and usefulness of neuro-imaging. European Journal of Medical Genetics 53, 19-22.
2. Altevogt B.M. and Paul D.L. (2004) Four classes of intercellular channels between glial cells in the CNS. The Journal of Neuroscience: The Official Journal of the Society for Neuroscience 24, 4313-4323. (Pubitemid 38608142)
3. Beltramello M., Bicego M., Piazza V., Ciubotaru C.D., Mammano F. and D'Andrea P. (2003) Permeability and gating properties of human connexins 26 and 30 expressed in HeLa cells. Biochemical and Biophysical Research Communications 305, 1024-1033. (Pubitemid 36597866)
4. Bruzzone R., White T.W. and Paul D.L. (1996) Connections with connexins: the molecular basis of direct intercellular signaling. European Journal of Biochemistry/FEBS 238, 1-27. (Pubitemid 26164180)
5. Bukauskas F.F., Bukauskiene A., Bennett M.V. and Verselis V.K. (2001) Gating properties of gap junction channels assembled from connexin43 and connexin43 fused with green fluorescent protein. Biophysical Journal 81, 137-152. (Pubitemid 32605958)
6. Chanson M., Kotsias B.A., Peracchia C. and O'Grady S.M. (2007) Interactions of connexins with other membrane channels and transporters. Progress in Biophysics and Molecular Biology 94, 233-244. (Pubitemid 46805108)
7. Cina C., Maass K., Theis M., Willecke K., Bechberger J.F. and Naus C.C. (2009) Involvement of the cytoplasmic C-terminal domain of connexin43 in neuronal migration. Journal of Neuroscience 29, 2009-2021.
8. Dermietzel R., Gao Y., Scemes E., Vieira D., Urban M., Kremer M. et al. (2000) Connexin43 null mice reveal that astrocytes express multiple connexins. Brain Research. Brain Research Reviews 32, 45-56. (Pubitemid 30177309)
9. Dobrowolski R., Sasse P., Schrickel J.W., Watkins M., Kim J.S., Rackauskas M. et al. (2008) The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans. Human Molecular Genetics 17, 539-554. (Pubitemid 351201767)
10. Elfgang C., Eckert R., Lichtenberg-Frate H., Butterweck A., Traub O., Klein R.A. et al. (1995) Specific permeability and selective formation of gap junction channels in connexin-transfected HeLa cells. Journal of Cell Biology 129, 805-817.
11. Elias L.A., Wang D.D. and Kriegstein A.R. (2007) Gap junction adhesion is necessary for radial migration in the neocortex. Nature 448, 901-907. (Pubitemid 47312775)
12. Fenwick A., Richardson R.J., Butterworth J., Barron M.J. and Dixon M.J. (2008) Novel mutations in GJA1 cause oculodentodigital syndrome. Journal of Dental Research 87, 1021-1026.
13. Flenniken A.M., Osborne L.R., Anderson N., Ciliberti N., Fleming C., Gittens J.E. et al. (2005) A Gja1 missense mutation in a mouse model of oculodentodigital dysplasia. Development 132, 4375-4386. (Pubitemid 41576698)
14. Giaume C., Fromaget C., el Aoumari A., Cordier J., Glowinski J. and Gros D. (1991) Gap junctions in cultured astrocytes: single-channel currents and characterization of channel-forming protein. Neuron 6, 133-143.
15. Giepmans B.N. and Moolenaar W.H. (1998) The gap junction protein connexin43 interacts with the second PDZ domain of the zona occludens-1 protein. Current Biology: CB 8, 931-934. (Pubitemid 28371760)
16. Gong X.Q., Shao Q., Lounsbury C.S., Bai D. and Laird D.W. (2006) Functional characterization of a GJA1 frameshift mutation causing oculodentodigital dysplasia and palmoplantar keratoderma. Journal of Biological Chemistry 281, 31801-31811. (Pubitemid 46041445)
17. Gutmann D.H., Zackai E.H., McDonald-McGinn D.M., Fischbeck K.H. and Kamholz J. (1991) Oculodentodigital dysplasia syndrome associated with abnormal cerebral white matter. American Journal of Medical Genetics 41, 18-20.
18. Iacobas D.A., Scemes E. and Spray D.C. (2004) Gene expression alterations in connexin null mice extend beyond the gap junction. Neurochemistry International 45, 243-250. (Pubitemid 38625615)
19. Kalcheva N., Qu J., Sandeep N., Garcia L., Zhang J., Wang Z. et al. (2007) Gap junction remodeling and cardiac arrhythmogenesis in a murine model of oculodentodigital dysplasia. Proceedings of the National Academy of Sciences of the U.S.A. 104, 20512-20516.
20. Koulakoff A., Ezan P. and Giaume C. (2008) Neurons control the expression of connexin 30 and connexin 43 in mouse cortical astrocytes. Glia 56, 1299-1311.
21. Kumar N.M. and Gilula N.B. (1996) The gap junction communication channel. Cell 84, 381-388. (Pubitemid 26060720)
22. Laing J.G., Tadros P.N., Westphale E.M. and Beyer E.C. (1997) Degradation of connexin43 gap junctions involves both the proteasome and the lysosome. Experimental Cell Research 236, 482-492. (Pubitemid 27505601)
23. Li X., Ionescu A.V., Lynn B.D., Lu S., Kamasawa N., Morita M. et al. (2004) Connexin47, connexin29 and connexin32 co-expression in oligodendrocytes and Cx47 association with zonula occludens-1 (ZO-1) in mouse brain. Neuroscience 126, 611-630. (Pubitemid 38759255)
24. Loddenkemper T., Grote K., Evers S., Oelerich M. and Stogbauer F. (2002) Neurological manifestations of the oculodentodigital dysplasia syndrome. Journal of Neurology 249, 584-595. (Pubitemid 34507833)
25. Lutz S.E., Zhao Y., Gulinello M., Lee S.C., Raine C.S. and Brosnan C.F. (2009) Deletion of astrocyte connexins 43 and 30 leads to a dysmyelinating phenotype and hippocampal CA1 vacuolation. Journal of Neuroscience 29, 7743-7752.
26. Maass K., Ghanem A., Kim J.S., Saathoff M., Urschel S., Kirfel G. et al. (2004) Defective epidermal barrier in neonatal mice lacking the C-terminal region of connexin43. Molecular Biology of the Cell 15, 4597-4608. (Pubitemid 39299107)
27. Manias J.L., Plante I., Gong X.Q., Shao Q., Churko J., Bai D. et al. (2008) Fate of connexin43 in cardiac tissue harbouring a diseaselinked connexin43 mutant. Cardiovascular Research 80, 385-395.
28. Manthey D., Banach K., Desplantez T., Lee C.G., Kozak C.A., Traub O. et al. (2001) Intracellular domains of mouse connexin26 and-30 affect diffusional and electrical properties of gap junction channels. Journal of Membrane Biology 181, 137-148. (Pubitemid 32466639)
29. McLachlan E., Manias J.L., Gong X.Q., Lounsbury C.S., Shao Q., Bernier S.M. et al. (2005) Functional characterization of oculodentodigital dysplasia-associated Cx43 mutants. Cell Communication and Adhesion 12, 279-292.
30. Meme W., Calvo C.F., Froger N., Ezan P., Amigou E., Koulakoff A. et al. (2006) Proinflammatory cytokines released from microglia inhibit gap junctions in astrocytes: potentiation by beta-amyloid. FASEB Journal 20, 494-496. (Pubitemid 46671227)
31. Menichella D.M., Goodenough D.A., Sirkowski E., Scherer S.S. and Paul D.L. (2003) Connexins are critical for normal myelination in the CNS. Journal of Neuroscience 23, 5963-5973. (Pubitemid 36807876)
32. Musil L.S. and Goodenough D.A. (1993) Multisubunit assembly of an integral plasma membrane channel protein, gap junction connexin43, occurs after exit from the ER. Cell 74, 1065-1077. (Pubitemid 23289463)
33. Nagy J.I., Ionescu A.V., Lynn B.D. and Rash J.E. (2003) Coupling of astrocyte connexins Cx26, Cx30, Cx43 to oligodendrocyte Cx29, Cx32, Cx47: implications from normal and connexin32 knockout mice. Glia 44, 205-218. (Pubitemid 37484472)
34. Nagy J.I., Patel D., Ochalski P.A. and Stelmack G.L. (1999) Connexin30 in rodent, cat and human brain: selective expression in gray matter astrocytes, co-localization with connexin43 at gap junctions and late developmental appearance. Neuroscience 88, 447-468. (Pubitemid 28480006)
35. Nagy J.I. and Rash J.E. (2003) Astrocyte and oligodendrocyte connexins of the glial syncytium in relation to astrocyte anatomical domains and spatial buffering. Cell Communication and Adhesion 10, 401-406. (Pubitemid 38081404)
36. Naus C.C., Bechberger J.F., Zhang Y., Venance L., Yamasaki H., Juneja S.C. et al. (1997) Altered gap junctional communication, intercellular signaling, and growth in cultured astrocytes deficient in connexin43. Journal of Neuroscience Research 49, 528-540. (Pubitemid 27381240)
37. Odermatt B., Wellershaus K., Wallraff A., Seifert G., Degen J., Euwens C. et al. (2003) Connexin 47 (Cx47)-deficient mice with enhanced green fluorescent protein reporter gene reveal predominant oligodendrocytic expression of Cx47 and display vacuolized myelin in the CNS. Journal of Neuroscience 23, 4549-4559. (Pubitemid 36706185)
38. Orthmann-Murphy J.L., Abrams C.K. and Scherer S.S. (2008) Gap junctions couple astrocytes and oligodendrocytes. Journal of Molecular Neuroscience 35, 101-116.
39. Orthmann-Murphy J.L., Freidin M., Fischer E., Scherer S.S. and Abrams C.K. (2007) Two distinct heterotypic channels mediate gap junction coupling between astrocyte and oligodendrocyte connexins. Journal of Neuroscience 27, 13949-13957. (Pubitemid 351377852)
40. Paznekas W.A., Boyadjiev S.A., Shapiro R.E., Daniels O., Wollnik B., Keegan C.E. et al. (2003) Connexin 43 (GJA1) mutations cause the pleiotropic phenotype of oculodentodigital dysplasia. American Journal of Human Genetics 72, 408-418. (Pubitemid 36194249)
41. Paznekas W.A., Karczeski B., Vermeer S., Lowry R.B., Delatycki M., Laurence F. et al. (2009) GJA1 mutations, variants, and connexin 43 dysfunction as it relates to the oculodentodigital dysplasia phenotype. Human Mutation 30, 724-733.
42. Peters A., Palay S.L. and Webster H. (1991) The Fine Structure of the Nervous System, Neurons and Their Supporting Cells, 3rd edition. New York: Oxford University Press.
43. Plante I. and Laird D.W. (2008) Decreased levels of connexin43 result in impaired development of the mammary gland in a mouse model of oculodentodigital dysplasia. Developmental Biology 318, 312-322.
44. Rash J.E., Yasumura T., Davidson K.G., Furman C.S., Dudek F.E. and Nagy J.I. (2001) Identification of cells expressing Cx43, Cx30, Cx26, Cx32 and Cx36 in gap junctions of rat brain and spinal cord. Cell Communication & Adhesion 8, 315-320.
45. Retamal M.A., Froger N., Palacios-Prado N., Ezan P., Saez P.J., Saez J.C. et al. (2007) Cx43 hemichannels and gap junction channels in astrocytes are regulated oppositely by proinflammatory cytokines released from activated microglia. Journal of Neuroscience 27, 13781-13792. (Pubitemid 350278255)
46. Richardson R., Donnai D., Meire F. and Dixon M.J. (2004) Expression of Gja1 correlates with the phenotype observed in oculodentodigital syndrome/type III syndactyly. Journal of Medical Genetics 41, 60-67. (Pubitemid 38125691)
47. de Roos A.D., van Zoelen E.J. and Theuvenet A.P. (1996) Determination of gap junctional intercellular communication by capacitance measurements. Pflugers Archiv: European Journal of Physiology 431, 556-563.
48. Roscoe W., Veitch G.I., Gong X.Q., Pellegrino E., Bai D., McLachlan E. et al. (2005) Oculodentodigital dysplasia-causing connexin43 mutants are non-functional and exhibit dominant effects on wild-type connexin43. Journal of Biological Chemistry 280, 11458-11466. (Pubitemid 40418455)
49. Rouach N., Koulakoff A., Abudara V., Willecke K. and Giaume C. (2008) Astroglial metabolic networks sustain hippocampal synaptic transmission. Science 322, 1551-1555.
50. Saura J. (2007) Microglial cells in astroglial cultures: a cautionary note. Journal of Neuroinflammation 4, 26.
51. Shibayama J., Paznekas W., Seki A., Taffet S., Jabs E.W., Delmar M. et al. (2005) Functional characterization of connexin43 mutations found in patients with oculodentodigital dysplasia. Circulation Research 96, e83-e91.
52. Sohl G. and Willecke K. (2004) Gap junctions and the connexin protein family. Cardiovascular Research 62, 228-232. (Pubitemid 38496536)
53. Tong D., Colley D., Thoo R., Li T.Y., Plante I., Laird D.W. et al. (2009a) Oogenesis defects in a mutant mouse model of oculodentodigital dysplasia. Disease Models amd Mechanisms 2, 157-167.
54. Tong D., Lu X., Wang H.X., Plante I., Lui E., Laird D.W. et al. (2009b) A dominant loss-of-function GJA1 (Cx43) mutant impairs parturition in the mouse. Biology of Reproduction 80, 1099-1106.
55. Vink M.J., Suadicani S.O., Vieira D.M., Urban-Maldonado M., Gao Y., Fishman G.I. et al. (2004) Alterations of intercellular communication in neonatal cardiac myocytes from connexin43 null mice. Cardiovascular Research 62, 397-406. (Pubitemid 38496552)
56. Wallraff A., Kohling R., Heinemann U., Theis M., Willecke K. and Steinhauser C. (2006) The impact of astrocytic gap junctional coupling on potassium buffering in the hippocampus. Journal of Neuroscience 26, 5438-5447. (Pubitemid 44318396)
57. Wiencken-Barger A.E., Djukic B., Casper K.B. and McCarthy K.D. (2007) A role for Connexin43 during neurodevelopment. Glia 55, 675-686. (Pubitemid 46663021)
58. Willecke K., Eiberger J., Degen J., Eckardt D., Romualdi A., Guldenagel M. et al. (2002) Structural and functional diversity of connexin genes in the mouse and human genome. Biological Chemistry 383, 725-737. (Pubitemid 34649891)
59. Yamamoto T., Ochalski A., Hertzberg E.L. and Nagy J.I. (1990) On the organization of astrocytic gap junctions in rat brain as suggested by LM and EM immunohistochemistry of connexin43 expression. Journal of Comparative Neurology 302, 853-883.
60. Yum S.W., Zhang J., Valiunas V., Kanaporis G., Brink P.R., White T.W. et al. (2007) Human connexin26 and connexin30 form functional heteromeric and heterotypic channels. American Journal of Physiology. Cell Physiology 293, C1032-C1048. (Pubitemid 47437388)
61. Zhuo L., Sun B., Zhang C.L., Fine A., Chiu S.Y. and Messing A. (1997) Live astrocytes visualized by green fluorescent protein in transgenic mice. Developmental Biology 187, 36-42. (Pubitemid 27359423)