Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity

Human Molecular Genetics

Volumn 13, Issue 16, 2004, Pages 1703-1714

  Essenfelder, Guilherme Munhoz ^a,b   Bruzzone, Roberto ^c,d   Lamartine, Jérôme ^a,b   Charollais, Anne ^e   Blanchet Bardon, Claudine ^f   Barbe, Michael T ^d   Meda, Paolo ^e   Waksman, Gilles ^a,b  

^a DIF   (France)

^b UNIVERSITÉ D EVRY VAL D ESSONNE   (France)

^c INSTITUT PASTEUR   (France)

^d UNIVERSITY OF HEIDELBERG   (Germany)

^e UNIVERSITY OF GENEVA   (Switzerland)

^f SAINT LOUIS HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADENOSINE TRIPHOSPHATE; CONNEXIN 30; EPIDERMAL GROWTH FACTOR; GAP JUNCTION PROTEIN;

ALOPECIA; ANIMAL CELL; ARTICLE; CELL DIFFERENTIATION; CELL MEMBRANE; CELL PROLIFERATION; CHANNEL GATING; CONTROLLED STUDY; CULTURE MEDIUM; ELECTROPHYSIOLOGY; FEMALE; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC TRANSFECTION; GENODERMATOSIS; HELA CELL; HUMAN; HUMAN CELL; HYPOHIDROTIC ECTODERMAL DYSPLASIA; KERATINOCYTE; KERATOSIS PALMOPLANTARIS; MOLECULAR MECHANICS; NAIL DISEASE; NONHUMAN; OOCYTE; PARACRINE SIGNALING; PATHOGENESIS; PATHOPHYSIOLOGY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN LOCALIZATION; PROTEIN TRANSPORT; TRANSPORT KINETICS; WILD TYPE; XENOPUS;

ADENOSINE TRIPHOSPHATE; ANIMALS; CONNEXINS; DNA PRIMERS; ECTODERMAL DYSPLASIA; ELECTROPHYSIOLOGY; EPIDERMIS; HELA CELLS; HUMANS; IMMUNOHISTOCHEMISTRY; ION CHANNELS; MICROINJECTIONS; MUTAGENESIS, SITE-DIRECTED; MUTATION; NUCLEIC ACID AMPLIFICATION TECHNIQUES; OOCYTES; TRANSFECTION; XENOPUS;

EID: 4444379731     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddh191     Document Type: Article

References (60)

1. Ando, Y., Tanaka, T., Horiguchi, Y., Ikai, K. and Tomono, H. (1988) Hidrotic ectodermal dysplasia: a clinical and ultrastructural observation. Dermatologica, 176, 205-211.
2. Fraser, F.C. and Der Kaloustian, V.M. (2001) A man, a syndrome, a gene: Clouston's hidrotic ectodermal dysplasia (HED). Am. J. Med. Genet., 100, 164-168.
3. Tan, E. and Tay, Y.K. (2000) What syndrome is this? Hidrotic ectodermal dysplasia (Clouston syndrome). Pediatr. Dermatol., 17, 65-67.
4. Kibar, Z., Dube, M.P., Powell, J., McCuaig, C., Hayflick, S.J., Zonana, J., Hovnanian, A., Radhakrishna, U., Antonarakis, S.E., Benohanian, A. et al. (2000) Clouston hidrotic ectodermal dysplasia (HED): genetic homogeneity, presence of a founder effect in the French Canadian population and fine genetic mapping. Eur. J. Hum. Genet., 8, 372-380.
5. Lamartine, J., Munhoz Essenfelder, G., Kibar, Z., Lanneluc, I., Callouet, E., Laoudj, D., Lemaitre, G., Hand, C., Hayflick, S.J., Zonana, J. et al. (2000) Mutations in GJB6 cause hidrotic ectodermal dysplasia. Nat. Genet., 26, 142-144.
6. Smith, F.J., Morley, S.M. and McLean, W.H. (2002) A novel connexin 30 mutation in Clouston syndrome. J. Invest. Dermatol., 118, 530-532.
7. Evans, W.H. and Martin, P.E. (2002) Gap junctions: structure and function (Review). Mol. Membr. Biol., 19, 121-136.
8. Sohl, G. and Willecke, K. (2003) An update on connexin genes and their nomenclature in mouse and man. Cell Commun. Adhes., 10, 173-180.
9. White, T.W. and Paul, D.L. (1999) Genetic diseases and gene knockouts reveal diverse connexin functions. Annu. Rev. Physiol., 61, 283-310.
10. Richard, G. (2003) Connexin gene pathology. Clin. Exp. Dermatol., 28, 397-409.
11. Di, W.L., Rugg, E.L., Leigh, I.M. and Kelsell, D.P. (2001) Multiple epidermal connexins are expressed in different keratinocyte subpopulations including connexin 31. J. Invest. Dermatol., 117, 958-964.
12. Common, J.E., Becker, D., Di, W.L., Leigh, I.M., O'Toole, E.A. and Kelsell, D.P. (2002) Functional studies of human skin disease- and deafness-associated connexin 30 mutations. Biochem. Biophys. Res. Commun., 298, 651-656.
13. Manthey, D., Banach, K., Desplantez, T., Lee, C.G., Kozak, C.A., Traub, O., Weingart, R. and Willecke, K. (2001) Intracellular domains of mouse connexin26 and -30 affect diffusional and electrical properties of gap junction channels. J. Membr. Biol., 181, 137-148.
14. Meda, P. (2001) Assaying the molecular permeability of connexin channels. Methods Mol. Biol., 154, 201-224.
15. Dahl, G., Miller, T., Paul, D., Voellmy, R. and Werner, R. (1987) Expression of functional cell-cell channels from cloned rat liver gap junction complementary DNA. Science, 236, 1290-1293.
16. Green, C.R., Harfst, E., Gourdie, R.G. and Severs, N.J. (1988) Analysis of the rat liver gap junction protein: clarification of anomalies in its molecular size. Proc. R. Soc. Lond. B Biol. Sci., 233, 165-174.
17. Dahl, E., Manthey, D., Chen, Y., Schwarz, H.J., Chang, Y.S., Lalley, P.A., Nicholson, B.J. and Willecke, K. (1996) Molecular cloning and functional expression of mouse connexin-30, a gap junction gene highly expressed in adult brain and skin. J. Biol. Chem., 271, 17903-17910.
18. 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. Biochem. Biophys. Res. Commun., 305, 1024-1033.
19. Valiunas, V. and Weingart, R. (2000) Electrical properties of gap junction hemichannels identified in transfected HeLa cells. Pflugers Arch., 440, 366-379.
20. VanSlyke, J.K., Deschenes, S.M. and Musil, L.S. (2000) Intracellular transport, assembly, and degradation of wild-type and disease-linked mutant gap junction proteins. Mol. Biol. Cell., 11, 1933-1946.
21. Gottfried, I. Landau, M., Glaser, F., Di, W.L., Ophir, J., Mevorah, B., Ben-Tal, N., Kelsell, D.P. and Avraham, K.B. (2002) A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein. Hum. Mol. Genet., 11, 1311-1316.
22. D'Andrea, P., Veronesi, V., Bicego, M., Melchionda, S., Zelante, L., Di Iorio, E., Bruzzone, R. and Gasparini, P. (2002) Hearing loss: frequency and functional studies of the most common connexin26 alleles. Biochem. Biophys. Res. Commun., 296, 685-691.
23. Elfgang, C., Eckert, R., Lichtenberg-Frate, H., Butterweck, A., Traub, O., Klein, R.A., Hulser, D.F. and Willecke, K. (1995) Specific permeability and selective formation of gap junction channels in connexin-transfected HeLa cells. J. Cell Biol., 129, 805-817.
24. Harris, A.L. (2001) Emerging issues of connexin channels: biophysics fills the gap. Q. Rev. Biophys., 34, 325-472.
25. Bruzzone, R., White, T.W. and Paul, D.L. (1994) Expression of chimeric connexins reveals new properties of the formation and gating behavior of gap junction channels. J. Cell Sci., 107, 955-967.
26. Oh, S., Rubin, J.B., Bennett, M.V., Verselis, V.K. and Bargiello, T.A. (1999) Molecular determinants of electrical rectification of single channel conductance in gap junctions formed by connexins 26 and 32. J. Gen. Physiol., 114, 339-364.
27. Suchyna, T.M., Xu, L.X., Gao, F., Fourtner, C.R. and Nicholson, B.J. (1993) Identification of a proline residue as a transduction element involved in voltage gating of gap junctions. Nature, 365, 847-849.
28. Oh, S., Ri, Y., Bennett, M.V., Trexler, E.B., Verselis, V.K. and Bargiello, T.A. (1997) Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot-Marie-Tooth disease. Neuron, 19, 927-938.
29. Abrams, C.K., Freidin, M.M., Verselis, V.K., Bennett, M.V. and Bargiello, T.A. (2001) Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease. Brain Res., 900, 9-25.
30. Paul, D.L., Ebihara, L., Takemoto, L.J., Swenson, K.I. and Goodenough, D.A. (1991) Connexin46, a novel lens gap junction protein, induces voltage-gated currents in nonjunctional plasma membrane of Xenopus oocytes. J. Cell Biol., 115, 1077-1089.
31. Abrams, C.K., Bennett, M.V., Verselis, V.K. and Bargiello, T.A. (2002) Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease. Proc. Natl Acad. Sci. USA, 99, 3980-3984.
32. Gomez-Hernandez, J.M., de Miguel, M., Larrosa, B., Gonzalez, D. and Barrio, L.C. (2003) Molecular basis of calcium regulation in connexin-32 hemichannels. Proc. Natl Acad. Sci. USA, 100, 16030-16035.
33. Bakirtzis, G., Choudhry, R., Aasen, T., Shore, L., Brown, K., Bryson, S., Forrow, S., Tetley, L., Finbow, M., Greenhalgh, D. et al. (2003) Targeted epidermal expression of mutant connexin 26 (D66H) mimics true Vohwinkel syndrome and provides a model for the pathogenesis of dominant connexin disorders. Hum. Mol. Genet., 12, 1737-1744.
34. Di, W.L., Monypenny, J., Common, J.E., Kennedy, C.T., Holland, K.A., Leigh, I.M., Rugg, E.L., Zicha, D. and Kelsell, D.P. (2002) Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations. Hum. Mol. Genet., 11, 2005-2014.
35. Ebihara, L. and Steiner, E. (1993) Properties of a nonjunctional current expressed from a rat connexin46 cDNA in Xenopus oocytes. J. Gen. Physiol., 102, 59-74.
36. Li, H., Liu, T.F., Lazrak, A., Peracchia, C., Goldberg, G.S., Lampe, P.D. and Johnson, R.G. (1996) Properties and regulation of gap junctional hemichannels in the plasma membranes of cultured cells. J. Cell Biol., 134, 1019-1030.
37. Pfahnl, A. and Dahl, G. (1999) Gating of cx46 gap junction hemichannels by calcium and voltage. Pflugers Arch., 437, 345-353.
38. 2+-regulated transmembrane NAD+ fluxes in intact cells. FASEB J., 15, 10-12.
39. Zoidl, G., Bruzzone, R., Weickert, S., Kremer, M., Zoidl, C., Mitropoulou, G., Srinivas, M., Spray, D.C. and Dermietzel, R. (2004) Molecular cloning and functional expression of zfCx52.6: a novel connexin with hemichannel-forming properties expressed in horizontal cells of the zebrafish retina. J. Biol. Chem., 279, 2913-2921.
40. Bennett, M.V., Contreras, J.E., Bukauskas, F.F. and Saez, J.C. (2003) New roles for astrocytes: gap junction hemichannels have something to communicate. Trends Neurosci., 26, 610-617.
41. Goodenough, D.A. and Paul, D.L. (2003) Beyond the gap: functions of unpaired connexon channels. Nat. Rev. Mol. Cell Biol., 4, 285-294.
42. Tran Van Nhieu, G., Clair, C., Bruzzone, R., Mesnil, M., Sansonetti, P. and Combettes, L. (2003) Connexin-dependent inter-cellular communication increases invasion and dissemination of Shigella in epithelial cells. Nat. Cell Biol., 5, 720-726.
43. Stout, C.E., Costantin, J.L., Naus, C.C. and Charles, A.C. (2002) Intercellular calcium signaling in astrocytes via ATP release through connexin hemichannels. J. Biol. Chem., 277, 10482-10488.
44. Leybaert, L., Braet, K., Vandamme, W., Cabooter, L., Martin, P.E. and Evans, W.H. (2003) Connexin channels, connexin mimetic peptides and ATP release. Cell Commun. Adhes., 10, 251-257.
45. Braet, K., Aspeslagh, S., Vandamme, W., Willecke, K., Martin, P.E., Evans, W.H. and Leybaert, L. (2003) Pharmacological sensitivity of ATP release triggered by photoliberation of inositol-1,4,5-trisphosphate and zero extracellular calcium in brain endothelial cells. J. Cell. Physiol., 197, 205-213.
46. Contreras, J.E., Saez, J.C., Bukauskas, F.F. and Bennett, M.V. (2003) Gating and regulation of connexin 43 (Cx43) hemichannels. Proc. Natl Acad. Sci. USA, 100, 11388-11393.
47. Greig, A.V., Linge, C., Terenghi, G., McGrouther, D.A. and Burnstock, G. (2003) Purinergic receptors are part of a functional signaling system for proliferation and differentiation of human epidermal keratinocytes. J. Invest. Dermatol., 120, 1007-1015.
48. Denda, M., Inoue, K., Fuziwara, S. and Denda, S. (2002) P2X purinergic receptor antagonist accelerates skin barrier repair and prevents epidermal hyperplasia induced by skin barrier disruption. J. Invest. Dermatol., 119, 1034-1040.
49. Diestel, S., Richard, G., Doring, B. and Traub, O. (2002) Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells. Biochem. Biophys. Res. Commun., 296, 721-728.
50. Marziano, N.K., Casalotti, S.O., Portelli, A.E., Becker, D.L. and Forge, A. (2003) Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30. Hum. Mol. Genet., 12, 805-812.
51. Salomon, D., Masgrau, E., Vischer, S., Ullrich, S., Dupont, E., Sappino, P., Saurat, J.H. and Meda, P. (1994) Topography of mammalian connexins in human skin. J. Invest. Dermatol., 103, 240-247.
52. Wiszniewski, L., Limat, A., Samar, J.H., Meda, P. and Salomon, D. (2000) Differential expression of connexins during stratification of human keratinocytes. J. Invest. Dermatol., 115, 278-285.
53. Sivan, V., Vozenin-Brotons, M.C., Tricaud, Y., Lefaix, J.L., Cosset, J.M., Dubray, B. and Martin, M.T. (2002) Altered proliferation and differentiation of human epidermis in cases of skin fibrosis after radiotherapy. Int. J. Radiat. Oncol. Biol. Phys., 53, 385-393.
54. Charollais, A., Gjinovci, A., Huarte, J , Bauquis, J., Nadal, A., Martin, F., Andreu, E., Sanchez-Andres, J.V., Calabrese, A., Bosco, D. et al. (2000) Junctional communication of pancreatic beta cells contributes to the control of insulin secretion and glucose tolerance. J. Clin. Invest., 106, 235-243.
55. Krieg, P.A. and Melton, D.A. (1984) Functional messenger RNAs are produced by SP6 in vitro transcription of cloned cDNAs. Nucl. Acids Res., 12, 7057-7070.
56. Mitropoulou, G. and Bruzzone, R. (2003) Modulation of perch connexin35 hemi-channels by cyclic AMP requires a protein kinase A phosphorylation site. J. Neurosci. Res., 72, 147-157.
57. Bruzzone, R., Haefliger, J.A., Gimlich, R.L. and Paul, D.L. (1993) Connexin40, a component of gap junctions in vascular endothelium, is restricted in its ability to interact with other connexins. Mol. Biol. Cell, 4, 7-20.
58. White, T.W., Deans, M.R., O'Brien, J., Al-Ubaidi, MR., Goodenough, D.A., Ripps, H. and Bruzzone, R. (1999) Functional characteristics of skate connexin35, a member of the gamma subfamily of connexins expressed in the vertebrate retina. Eur. J. Neurosci., 11, 1883-1890.
59. White, T.W., Srinivas, M., Ripps, H., Trovato-Salinaro, A., Condorelli, D.F. and Bruzzone, R. (2002) Virtual cloning, functional expression, and gating analysis of human connexin31.9. Am. J. Physiol. Cell Physiol., 283, C960-970.
60. Duval, N., Gomes, D., Calaora, V., Calabrese, A., Meda, P. and Bruzzone, R. (2002) Cell coupling and Cx43 expression in embryonic mouse neural progenitor cells. J. Cell Sci., 115, 3241-3251.