Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells

Biochemical and Biophysical Research Communications

Volumn 296, Issue 3, 2002, Pages 721-728

  Diestel, Simone ^a   Richard, Gabriele ^b   Döring, Britta ^a   Traub, Otto ^a  

^a UNIVERSITY OF BONN   (Germany)

^b THOMAS JEFFERSON UNIVERSITY   (United States)

Author keywords

Connexin31; Gap junction; Intercellular communication; Role of amino terminal mutations; Skin disorder erythrokeratodermia variabilis

Indexed keywords

ARGININE; COMPLEMENTARY DNA; CONNEXIN 31; GAP JUNCTION PROTEIN; GLYCINE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CELL DEATH; CELL MEMBRANE; CELL SURVIVAL; CONDUCTANCE; CONTROLLED STUDY; ERYTHROKERATODERMA FIGURATA VARIABILIS; GENE EXPRESSION SYSTEM; GENE MUTATION; GENETIC TRANSFECTION; HELA CELL; HUMAN; HUMAN CELL; LIFESPAN; PRIORITY JOURNAL; PROTEIN ANALYSIS; PROTEIN EXPRESSION; SKIN DISEASE;

AMINO ACID SUBSTITUTION; CELL DEATH; CELL SURVIVAL; CONNEXINS; ELECTRIC CONDUCTIVITY; ERYTHEMA; GENETIC PREDISPOSITION TO DISEASE; HELA CELLS; HUMANS; KERATOSIS; MUTATION; TRANSFECTION;

VECTORS;

EID: 0036382811     PISSN: 0006291X     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0006-291X(02)00929-4     Document Type: Article

References (42)

1. D.A. Goodenough, J.A. Goliger, D.L. Paul, Connexins, connexons, and intercellular communication, Ann. Rev. Biochem. 65 (1996) 475-502.
2. N.M. Kumar, N.B. Gilula, The gap junction communication channel, Cell 84 (1996) 381-388.
3. R. Bruzzone, T.W. White, D.L. Paul, Connections with connexins: the molecular basis of direct intercellular signalling, Eur. J. Biochem. 238 (1996) 1-27.
4. J. Bergoffen, S.S. Scherer, S. Wang, M.O. Scott, L.J. Bone, D.L. Paul, K. Chen, M.W. Lensch, P.F. Chance, K.H. Fishbeck, Connexin mutations in X-linked Charcot-Marie-Tooth disease, Science 262 (1993) 2039-2042.
5. R. Bruzzone, T.W. White, S.S. Scherer, K.H. Fishbeck, D.L. Paul, Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease, Neuron 13 (1994) 1253-1260.
6. S.H. Britz-Cunningham, M.M. Shah, C.W. Zuppan, W.H. Fletcher, Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality, N. Engl. J. Med. 332 (1995) 1323-1329.
7. A. Grifa, C.A. Wagner, L. D'Ambrosio, S. Melchionda, F. Bernardi, N. Lopez-Bigas, R. Rabionet, M. Arbones, M.D. Monica, X. Estivill, L. Zelante, F. Lang, P. Gasparini, Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus, Nat. Genet. 23 (1999) 16-18.
8. D.P. Kelsell, J. Dunlop, H.P. Stevens, N.J. Lench, J.N. Liang, G. Parry, R.F. Mueller, I.M. Leigh, Connexin26 mutations in hereditary nonsyndromic sensorineural deafness, Nature 287 (1997) 80-83.
9. J.H. Xia, C.Y. Liu, B.S. Tang, Q. Pan, L. Huang, H. Dai, B.R. Zhang, W. Xie, D.X. Hu, D. Zheng, X.L. Shi, D.A. Wang, K. Xia, K.P. Yu, X.D. Liao, Y. Feng, Y.F. Yang, J.Y. Xiao, D.H. Xie, J.Z. Huang, Mutations in the gene encoding gap junction protein β-3 associated with autosomal dominant hearing impairment, Nat. Genet. 20 (1998) 370-373.
10. V. Berry, D. Mackay, S. Khaliq, P.J. Francis, A. Hameed, K. Anwar, S.Q. Mehdi, R.J. Newbold, A. Ionides, A. Shiels, T. Moore, S.S. Bhattacharya, Connexin50 mutation in a family with congenital "zonular nuclear" pulverulent cataract of Pakistani origin, Hum. Genet. 105 (1999) 168-170.
11. D. Mackay, A. Ionides, Z. Kibar, G. Rouleau, V. Berry, A. Moore, A. Shiels, S. Bhattacharya, Connexin46 mutations in autosomal dominant congenital cataract, Am. J. Hum. Genet. 64 (1999) 1357-1364.
12. G. Richard, L.E. Smith, R.A. Bailey, P. Itin, D. Hohl, E.H. Epstein Jr., J.J. DiGiovanna, J.G. Compton, S.J. Bale, Mutation in the human connexin gene GJB3 cause erythrokeratodermia variabilis, Nat. Genet. 20 (1998) 366-369.
13. F. Macari, M. Landau, P. Cousin, B. Mevorah, S. Brenner, R. Panizzon, D.F. Schorderet, D. Hohl, M. Huber, Mutation in the gene for connexin30.3 in a family with erythrokeratodermia variabilis, Am. J. Hum. Genet. 67 (2000) 1296-1301.
14. S. Mendes da Costa, Erythro- et keratodermia variabilis in a mother and a daughter, Acta Derm. Venerol. 6 (1925) 255-261.
15. L. Zelante, P. Gasparini, X. Estivill, S. Melchionda, L. D'Argruma, N. Govea, M. Mila, M.D. Monica, J. Lutfi, M. Shohat, E. Mansfield, K. Delgrosso, E. Rappaport, S. Surrey, P. Fortina, Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans, Hum. Mol. Genet. 6 (1997) 1605-1609.
16. S.M. Deschenes, J.L. Walcott, T.L. Wexler, S.S. Scherer, K.H. Fishbeck, Altered trafficking of mutant connexin32, J. Neurosci. 17(1997) 9077-9084.
17. S. Urlinger, U. Baron, M. Thellmann, M.T. Hasan, H. Bujard, W. Hillen, Exploring the sequence space for tetracycline-dependent transcriptional activators: novel mutations yield expanded range and sensitivity, Proc. Natl. Acad. Sci. USA 97 (2000) 7963-7968.
18. M. Horst, N. Harth, A. Hasilik, Biosynthesis of glycosylated human lysozyme mutants, J. Biol. Chem. 266 (1991) 13914-13919.
19. K. Wenzel, D. Manthey, K. Willecke, K.H. Grzeschik, O. Traub, Human gap junction protein connexin31: molecular cloning and expression analysis, Biochem. Biophys. Res. Commun. 248 (1998) 910-915.
20. A. Kistner, M. Gossen, F. Zimmermann, J. Jerecic, C. Ullmer, H. Lubbert, H. Bujard, Doxycycline-mediated quantitative and tissue-specific control of gene expression in transgenic mice, Proc. Natl. Acad. Sci. USA 93 (1996) 10933-10938.
21. J.H. Chung, M. Whiteley, G. Felsenfeld, A 5′ element of the chicken β-globin domain serves as an insulator in human erythroid cells and protects against position effect in Drosophila, Cell 75 (1993) 505-514.
22. C. Chen, H. Okayama, High efficiency transformation of mammaliam cells by plasmid DNA, Mol. Cell Biol. 7 (1987) 2745-2752.
23. O. Traub, H. Lichtenberg-Fraté, R. Eckert, B. Bastide, K.H. Scheidtmann, D. Hülser, K. Willecke, Immunochemical and electrophysiological characterization of murine connexin40 and -43 expressed in transfected human cells and mouse tissues, Eur. J. Cell Biol. 64 (1994) 101-112.
24. A. Butterweck, K. Elfgang, K. Willecke, O. Traub, Di4erential expression of the gap junction proteins connexin45, -43, -40, -31, and -26 in mouse skin, Eur. J. Cell Biol. 65 (1994) 152-163.
25. C. Elfgang, R. Eckert, H. Lichtenberg-Fratë, A. Butterweck, O. Traub, A.R. Klein, D.F. Hülser, K. Willecke, Specific permeability and selective formation of gap junction channels in connexin transfected HeLa cells, J. Cell Biol. 126 (1995) 805-817.
26. T.J. King, L.H. Fukudhima, A.D. Hieber, K.A. Shimabukuro, W.A. Sakr, J.S. Bertram, Reduced levels of connexin43 in cervical dysplasia: inducible expression in a cervical carcinoma cell line decreases neoplastic potential with implications for tumor progression, Carcinogenesis 21 (2000) 1097-1109.
27. E. Masgrau-Peya, D. Salomon, J.H. Saurat, P. Meda, In vivo modulation of connexins 43 and 26 of human epidermis by topical retinoic acid treatment, J. Histochem. Cytochem. 45 (1997) 1207-1215.
28. M.P. Labarthe, D. Bosco, J.H. Saurat, P. Meda, D. Salomon, Upregulation of connexin26 between keratinocytes of psoriatic lesions, J. Invest. Dermatol. 111 (1998) 72-76.
29. M.V. Rivas, E.D. Jarvis, S. Morisaki, H. Carbonaro, A.B. Gottlieb, J.G. Krueger, Identification of aberrantly regulated genes in diseased skin using the cDNA differential display technique, J. Invest. Dermatol. 108 (1997) 188-194.
30. S. Oh, C.K. Abrams, V.K. Verselis, T.A. Bargiello, Stoichiometry of transjunctional voltage-gating polarity reversal by a negative charge substitution in the amino terminus of a connexin32 chimera, J. Gen. Physiol. 116 (2000) 13-31.
31. P.E. Purnick, S. Oh, C.K. Abrams, V.K. Verselis, T.A. Bargiello, Reversal of the gating polarity of gap junctions by negative charge substitutions in the N-terminus of connexin32, Biophys. J. 79 (2000a) 2403-2415.
32. P.E. Purnick, D.C. Benjamin, V.K. Verselis, T.A. Bargiello, T.L. Dowd, Structure of the amino terminus of a gap junction protein, Arch. Biochem. Biophys. 381 (2000b) 181-190.
33. G. Richard, F. Rouan, S. Diestel, O. Traub, T.W. White, C.W. Lo, J. und Uitto, Functional mechanisms of dominant connexin mutations in human skin disorders, Soc. Invest. Dermatol. (2000) (Abstract No. 730).
34. S.H. De Vries, E.A. Schwartz, Hemi-gap junction channels in solitary horizontal cells of the catfish retina, J. Physiol. London 445 (1992) 201-230.
35. R.P. Malchow, H. Qian, H. Ripps, Evidence for hemi-gap junctional channels in isolated horizontal cells of the skate retina, J. Neurosci. Res. 35 (1993) 237-245.
36. L. Ebihara, Xenopus connexin38 forms hemi-gap junctional channels in the nonjunctional plasma membrane of Xenopus oocytes, Biophys. J. 71 (1996) 742-748.
37. R.P. Kondo, S.Y. Wang, S.A. John, J.N. Weiss, J.I. und Goldhaber, Metabolic inhibition activates a non-selective current through connexin hemichannels in isolated ventricular myocytes, J. Mol. Cell. Cardiol. 32 (2000) 1859-1872.
38. D.L. Paul, L. Ebihara, L.J. Takemoto, K.I. Swenson, D.A. und Goodenough, Connexin46, a novel lens gap junction protein, induces voltage-gated currents in nonjunctional plasma membrane of Xenopus oocytes, J. Cell Biol. 115 (1991) 1077-1089.
39. A. Pfahnl, X.W. Zhou, R. Werner, G. Dahl, A chimeric connexin forming gap junction hemichannels, Eur. J. Physiol. 433 (1997) 773-779.
40. +-antiport in cultured rat aortic smooth muscle: its role in cytoplasmic pH regulation, Am. J. Physiol. 253 (1987) C193-C198.
41. A. Plum, E. Winterhager, J. Pesch, J. Lautermann, G. Hallas, B. Rosentreter, O. Traub, C. Herberhold, K. Willecke, Connexin31-deficiency in mice causes transient placental dysmorphogenesis but does not impair hearing and skin differentiation, Dev. Biol. 231 (2001) 334-347.
42. A. Plum, G. Hallas, F. Dombrowski, A. Hagendor4, B. Schumacher, C. Wolpert, J.S. Kim, W.H. Lamers, M. Evert, P. Meda, et al., Unique and shared functions of different connexins in mice, Curr. Biol. 10 (2000) 1083-1091.