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Volumn 12, Issue 24, 2003, Pages 3287-3294

Molecular interaction of connexin 30.3 and connexin 31 suggests a dominant-negative mechanism associated with erythrokeratodermia variabilis

Author keywords

[No Author keywords available]

Indexed keywords

CONNEXIN 30; CONNEXIN 31; GAP JUNCTION PROTEIN; MEMBRANE PROTEIN; UNCLASSIFIED DRUG;

EID: 0348013123     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/ddg364     Document Type: Article
Times cited : (45)

References (37)
  • 2
    • 0037382614 scopus 로고    scopus 로고
    • Beyond the gap: Functions of unpaired connexon channels
    • Goodenough, D.A. and Paul, D.L. (2003) Beyond the gap: functions of unpaired connexon channels. Nat. Rev. Mol. Cell. Biol., 4, 285-294.
    • (2003) Nat. Rev. Mol. Cell. Biol. , vol.4 , pp. 285-294
    • Goodenough, D.A.1    Paul, D.L.2
  • 3
    • 0034068362 scopus 로고    scopus 로고
    • Connexins: A connection with the skin
    • Richard, G. (2000) Connexins: a connection with the skin. Exp. Dermatol., 9, 77-96.
    • (2000) Exp. Dermatol. , vol.9 , pp. 77-96
    • Richard, G.1
  • 4
    • 0034080924 scopus 로고    scopus 로고
    • Connexin gene mutations in human genetic diseases
    • Krutovskikh, V and Yamasaki, H. (2000) Connexin gene mutations in human genetic diseases. Mutat. Res., 462, 197-207.
    • (2000) Mutat. Res. , vol.462 , pp. 197-207
    • Krutovskikh, V.1    Yamasaki, H.2
  • 6
    • 0026801572 scopus 로고
    • Two gap junction genes, connexin 31.1 and 30.3, are closely linked on mouse chromosome 4 and preferentially expressed in skin
    • Hennemann, H., Dahl, E., White, J.B., Schwarz, H.J., Lalley, P.A., Chang, S., Nicholson, B.J. and Willecke, K. (1992) Two gap junction genes, connexin 31.1 and 30.3, are closely linked on mouse chromosome 4 and preferentially expressed in skin. J. Biol. Chem., 267, 17225-17233.
    • (1992) J. Biol. Chem. , vol.267 , pp. 17225-17233
    • Hennemann, H.1    Dahl, E.2    White, J.B.3    Schwarz, H.J.4    Lalley, P.A.5    Chang, S.6    Nicholson, B.J.7    Willecke, K.8
  • 7
    • 0034773461 scopus 로고    scopus 로고
    • Multiple epidermal connexins are expressed in different keratinocyte subpopulations including connexin 31
    • 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.
    • (2001) J. Invest. Dermatol. , vol.117 , pp. 958-964
    • Di, W.L.1    Rugg, E.L.2    Leigh, I.M.3    Kelsell, D.P.4
  • 9
    • 0037715161 scopus 로고    scopus 로고
    • Connexin gene pathology
    • Richard, G. (2003) Connexin gene pathology. Clin. Exp. Dermatol., 28, 397-409.
    • (2003) Clin. Exp. Dermatol. , vol.28 , pp. 397-409
    • Richard, G.1
  • 10
    • 0035096676 scopus 로고    scopus 로고
    • Connexin mutations in skin disease and hearing loss
    • Kelsell, D.P., Di, W.L. and Houseman, M.J. (2001) Connexin mutations in skin disease and hearing loss. Am. J. Hum. Genet., 68, 559-568.
    • (2001) Am. J. Hum. Genet. , vol.68 , pp. 559-568
    • Kelsell, D.P.1    Di, W.L.2    Houseman, M.J.3
  • 11
    • 0034198467 scopus 로고    scopus 로고
    • Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family
    • Kelsell, D.P., Wilgoss, A.L., Richard, G., Stevens, H.P., Munro, C.S. and Leigh, I.M. (2000) Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family. Eur. J. Hum. Genet., 8, 469-472.
    • (2000) Eur. J. Hum. Genet. , vol.8 , pp. 469-472
    • Kelsell, D.P.1    Wilgoss, A.L.2    Richard, G.3    Stevens, H.P.4    Munro, C.S.5    Leigh, I.M.6
  • 13
    • 0036230429 scopus 로고    scopus 로고
    • A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome
    • van Steensel, M.A., van Geel, M., Nahuys, M., Smitt, J.H. and Steijlen, P.M. (2002) A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome. J. Invest. Dermatol., 118, 724-727.
    • (2002) J. Invest. Dermatol. , vol.118 , pp. 724-727
    • van Steensel, M.A.1    van Geel, M.2    Nahuys, M.3    Smitt, J.H.4    Steijlen, P.M.5
  • 16
    • 0033384991 scopus 로고    scopus 로고
    • Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis
    • Wilgoss, A., Leigh, I.M., Barnes, M.R., Dopping-Hepenstal, P., Eady, R.A., Walter, J.M., Kennedy, C.T. and Kelsell, D.P. (1999) Identification of a novel mutation R42P in the gap junction protein beta-3 associated with autosomal dominant erythrokeratoderma variabilis. J. Invest. Dermatol., 113, 1119-1122.
    • (1999) J. Invest. Dermatol. , vol.113 , pp. 1119-1122
    • Wilgoss, A.1    Leigh, I.M.2    Barnes, M.R.3    Dopping-Hepenstal, P.4    Eady, R.A.5    Walter, J.M.6    Kennedy, C.T.7    Kelsell, D.P.8
  • 19
    • 17344373747 scopus 로고    scopus 로고
    • Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment
    • Xia, J.H., Liu, C.Y., Tang, B.S., Pan, Q., Huang, L., Dai, H.P., Zhang, B.R., Xie, W., Hu, D.X., Zheng, D. et al. (1998) Mutations in the gene encoding gap junction protein beta-3 associated with autosomal dominant hearing impairment. Nat. Genet., 20, 370-373.
    • (1998) Nat. Genet. , vol.20 , pp. 370-373
    • Xia, J.H.1    Liu, C.Y.2    Tang, B.S.3    Pan, Q.4    Huang, L.5    Dai, H.P.6    Zhang, B.R.7    Xie, W.8    Hu, D.X.9    Zheng, D.10
  • 20
    • 0037093306 scopus 로고    scopus 로고
    • A mutation in GJB3 is associated with recessive erythrokeratodermia variabilis (EKV) and leads to defective trafficking of the connexin 31 protein
    • 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.
    • (2002) Hum. Mol. Genet. , vol.11 , pp. 1311-1316
    • Gottfried, I.1    Landau, M.2    Glaser, F.3    Di, W.L.4    Ophir, J.5    Mevorah, B.6    Ben-Tal, N.7    Kelsell, D.P.8    Avraham, K.B.9
  • 22
    • 0036551020 scopus 로고    scopus 로고
    • A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families
    • Lopez-Bigas, N., Melchionda, S., Gasparini, P, Borragan, A., Arbones, M.L. and Estivill, X. (2002) A common frameshift mutation and other variants in GJB4 (connexin 30.3): Analysis of hearing impairment families. Hum. Mutat., 19, 458.
    • (2002) Hum. Mutat. , vol.19 , pp. 458
    • Lopez-Bigas, N.1    Melchionda, S.2    Gasparini, P.3    Borragan, A.4    Arbones, M.L.5    Estivill, X.6
  • 24
    • 0025789648 scopus 로고
    • Biochemical analysis of connexin43 intracellular transport, phosphorylation, and assembly into gap junctional plaques
    • Musil, L.S. and Goodenough, D.A. (1991) Biochemical analysis of connexin43 intracellular transport, phosphorylation, and assembly into gap junctional plaques. J. Cell. Biol., 115, 1357-1374.
    • (1991) J. Cell. Biol. , vol.115 , pp. 1357-1374
    • Musil, L.S.1    Goodenough, D.A.2
  • 25
    • 0027364529 scopus 로고
    • Multisubunit assembly of an integral plasma membrane channel protein, gap junction connexin43, occurs after exit from the ER
    • 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.
    • (1993) Cell , vol.74 , pp. 1065-1077
    • Musil, L.S.1    Goodenough, D.A.2
  • 27
    • 0034047183 scopus 로고    scopus 로고
    • Intracellular transport, assembly, and degradation of wild-type and disease-linked mutant gap junction proteins
    • 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.
    • (2000) Mol. Biol. Cell. , vol.11 , pp. 1933-1946
    • VanSlyke, J.K.1    Deschenes, S.M.2    Musil, L.S.3
  • 28
    • 0031281674 scopus 로고    scopus 로고
    • Degradation of connexin43 gap junctions involves both the proteasome and the lysosome
    • 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. Exp. Cell. Res., 236, 482-492.
    • (1997) Exp. Cell. Res. , vol.236 , pp. 482-492
    • Laing, J.G.1    Tadros, P.N.2    Westphale, E.M.3    Beyer, E.C.4
  • 29
    • 0034682799 scopus 로고    scopus 로고
    • Regulation of connexin degradation as a mechanism to increase gap junction assembly and function
    • Musil, L.S., Le, A.C., VanSlyke, J.K. and Roberts, L.M. (2000) Regulation of connexin degradation as a mechanism to increase gap junction assembly and function. J. Biol. Chem., 275, 25207 25215.
    • (2000) J. Biol. Chem. , vol.275 , pp. 25207-25215
    • Musil, L.S.1    Le, A.C.2    VanSlyke, J.K.3    Roberts, L.M.4
  • 30
    • 0033963213 scopus 로고    scopus 로고
    • Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease
    • Martin, P.E., Mambetisaeva, E.T., Archer, D.A., George, C.H. and Evans, W.H. (2000) Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease. J. Neurochem., 74, 711-720.
    • (2000) J. Neurochem. , vol.74 , pp. 711-720
    • Martin, P.E.1    Mambetisaeva, E.T.2    Archer, D.A.3    George, C.H.4    Evans, W.H.5
  • 31
    • 0033848257 scopus 로고    scopus 로고
    • Biosynthesis and structural composition of gap junction intercellular membrane channels
    • Falk, M.M. (2000) Biosynthesis and structural composition of gap junction intercellular membrane channels. Eur. J. Cell. Biol., 79, 564-574.
    • (2000) Eur. J. Cell. Biol. , vol.79 , pp. 564-574
    • Falk, M.M.1
  • 32
    • 0242684552 scopus 로고    scopus 로고
    • Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30
    • 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.
    • (2003) Hum. Mol. Genet. , vol.12 , pp. 805-812
    • Marziano, N.K.1    Casalotti, S.O.2    Portelli, A.E.3    Becker, D.L.4    Forge, A.5
  • 33
    • 0037728362 scopus 로고    scopus 로고
    • Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro
    • Rouan, F., Lo, C.W., Fertala, A., Wahl, M., Jost, M., Rodeck, U., Uitto, J. and Richard, G. (2003) Divergent effects of two sequence variants of GJB3 (G12D and R32W) on the function of connexin 31 in vitro. Exp. Dermatol., 12, 191-197.
    • (2003) Exp. Dermatol. , vol.12 , pp. 191-197
    • Rouan, F.1    Lo, C.W.2    Fertala, A.3    Wahl, M.4    Jost, M.5    Rodeck, U.6    Uitto, J.7    Richard, G.8
  • 35
    • 2442426547 scopus 로고    scopus 로고
    • Pathogenic mutations affecting Cx31 and Cx30.3 impair gap junction function and induce cell death. IID 2003
    • Miami Fl
    • Rouan, F., Yi, L., Uitto, J. and Richard, G. (2003) Pathogenic mutations affecting Cx31 and Cx30.3 impair gap junction function and induce cell death. IID 2003. J. Invest. Dermatol., Miami, Fl, Vol. 121, p. 602.
    • (2003) J. Invest. Dermatol. , vol.121 , pp. 602
    • Rouan, F.1    Yi, L.2    Uitto, J.3    Richard, G.4
  • 36
    • 0036382811 scopus 로고    scopus 로고
    • Expression of a connexin31 mutation causing erythrokeratodermia variabilis is lethal for HeLa cells
    • 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.
    • (2002) Biochem. Biophys. Res. Commun. , vol.296 , pp. 721-728
    • Diestel, S.1    Richard, G.2    Doring, B.3    Traub, O.4
  • 37
    • 0035933764 scopus 로고    scopus 로고
    • Connexin45 interacts with zonula occludens-1 and connexin43 in osteoblastic cells
    • Laing, J.G., Manley-Markowski, R.N., Koval, M., Civitelli, R. and Steinberg, T.H. (2001) Connexin45 interacts with zonula occludens-1 and connexin43 in osteoblastic cells. J. Biol. Chem., 276, 23051-23055.
    • (2001) J. Biol. Chem. , vol.276 , pp. 23051-23055
    • Laing, J.G.1    Manley-Markowski, R.N.2    Koval, M.3    Civitelli, R.4    Steinberg, T.H.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.