메뉴 건너뛰기




Volumn 295, Issue 4, 2008, Pages

Connexin26 deafness associated mutations show altered permeability to large cationic molecules

Author keywords

Channel; Cochlear homeostasis; Ethidium bromide; Lucifer yellow; Selectivity

Indexed keywords

ANION; ASPARTIC ACID; CATION; CONNEXIN 26; CYCLIC AMP; DYE; ETHIDIUM BROMIDE; LUCIFER YELLOW; MUTANT PROTEIN; POTASSIUM ION; TETRYLAMMONIUM; TRACER;

EID: 57049158204     PISSN: 03636143     EISSN: 15221563     Source Type: Journal    
DOI: 10.1152/ajpcell.00008.2008     Document Type: Article
Times cited : (37)

References (71)
  • 1
    • 33846590621 scopus 로고    scopus 로고
    • Restoration of connexin26 protein level in the cochlea completely rescues hearing in a mouse model of human connexin30-linked deafness
    • Ahmad S, Tang W, Chang Q, Qu Y, Hibshman J, Li Y, Sohl G, Willecke K, Chen P, Lin X. Restoration of connexin26 protein level in the cochlea completely rescues hearing in a mouse model of human connexin30-linked deafness. Proc Natl Acad Sci USA 104: 1337-1341, 2007.
    • (2007) Proc Natl Acad Sci USA , vol.104 , pp. 1337-1341
    • Ahmad, S.1    Tang, W.2    Chang, Q.3    Qu, Y.4    Hibshman, J.5    Li, Y.6    Sohl, G.7    Willecke, K.8    Chen, P.9    Lin, X.10
  • 4
    • 0030976035 scopus 로고    scopus 로고
    • Beblo DA, Veenstra RD. Monovalent cation permeation through the connexin40 gap junction channel. Cs, Rb, K, Na, Li, TEA, TMA, TBA, and effects of anions Br, Cl, F, acetate, aspartate, glutamate, and NO3. J Gen Physiol 109: 509-522, 1997.
    • Beblo DA, Veenstra RD. Monovalent cation permeation through the connexin40 gap junction channel. Cs, Rb, K, Na, Li, TEA, TMA, TBA, and effects of anions Br, Cl, F, acetate, aspartate, glutamate, and NO3. J Gen Physiol 109: 509-522, 1997.
  • 6
    • 12344304163 scopus 로고    scopus 로고
    • Beltramello M, Piazza V, Bukauskas FF, Pozzan T, Mammano F. Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness. Nat Cell Biol 7: 63-69, 2005.
    • Beltramello M, Piazza V, Bukauskas FF, Pozzan T, Mammano F. Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness. Nat Cell Biol 7: 63-69, 2005.
  • 7
    • 0014014633 scopus 로고
    • Physiology of electrotonic junctions
    • Bennett MV. Physiology of electrotonic junctions. Ann NY Acad Sci 137: 509-539, 1966.
    • (1966) Ann NY Acad Sci , vol.137 , pp. 509-539
    • Bennett, M.V.1
  • 8
    • 0014749755 scopus 로고
    • Electrical coupling between embryonic cells by way of extracellular space and specialized junctions
    • Bennett MV, Trinkaus JP. Electrical coupling between embryonic cells by way of extracellular space and specialized junctions. J Cell Biol 44: 592-610, 1970.
    • (1970) J Cell Biol , vol.44 , pp. 592-610
    • Bennett, M.V.1    Trinkaus, J.P.2
  • 12
    • 12344282751 scopus 로고    scopus 로고
    • Bruzzone R, Cohen-Salmon M. Hearing the messenger: Ins(1,4,5)P3 and deafness. Nat Cell Biol 7: 14-16, 2005.
    • Bruzzone R, Cohen-Salmon M. Hearing the messenger: Ins(1,4,5)P3 and deafness. Nat Cell Biol 7: 14-16, 2005.
  • 14
    • 2442637577 scopus 로고    scopus 로고
    • Expression of the connexin43- and connexin45-encoding genes in the developing and mature mouse inner ear
    • Cohen-Salmon M, Maxeiner S, Kruger O, Theis M, Willecke K, Petit C. Expression of the connexin43- and connexin45-encoding genes in the developing and mature mouse inner ear. Cell Tissue Res 316: 15-22, 2004.
    • (2004) Cell Tissue Res , vol.316 , pp. 15-22
    • Cohen-Salmon, M.1    Maxeiner, S.2    Kruger, O.3    Theis, M.4    Willecke, K.5    Petit, C.6
  • 15
    • 0347756811 scopus 로고    scopus 로고
    • The inner ear contains heteromeric channels composed of cx26 and cx30 and deafness-related mutations in cx26 have a dominant negative effect on cx30
    • Forge A, Marziano NK, Casalotti SO, Becker DL, Jagger D. The inner ear contains heteromeric channels composed of cx26 and cx30 and deafness-related mutations in cx26 have a dominant negative effect on cx30. Cell Commun Adhes 10: 341-346, 2003.
    • (2003) Cell Commun Adhes , vol.10 , pp. 341-346
    • Forge, A.1    Marziano, N.K.2    Casalotti, S.O.3    Becker, D.L.4    Jagger, D.5
  • 16
    • 3042737001 scopus 로고    scopus 로고
    • Connexin43 and connexin26 form gap junctions, but not heteromeric channels in co-expressing cells
    • Gemel J, Valiunas V, Brink PR, Beyer EC. Connexin43 and connexin26 form gap junctions, but not heteromeric channels in co-expressing cells. J Cell Sci 117: 2469-2480, 2004.
    • (2004) J Cell Sci , vol.117 , pp. 2469-2480
    • Gemel, J.1    Valiunas, V.2    Brink, P.R.3    Beyer, E.C.4
  • 18
    • 0024110268 scopus 로고
    • Topological distribution of two connexin32 antigenic sites in intact and split rodent hepatocyte gap junctions
    • Goodenough DA, Paul DL, Jesaitis L. Topological distribution of two connexin32 antigenic sites in intact and split rodent hepatocyte gap junctions. J Cell Biol 107: 1817-1824, 1988.
    • (1988) J Cell Biol , vol.107 , pp. 1817-1824
    • Goodenough, D.A.1    Paul, D.L.2    Jesaitis, L.3
  • 20
    • 34249082403 scopus 로고    scopus 로고
    • Connexin channel permeability to cytoplasmic molecules
    • Harris AL. Connexin channel permeability to cytoplasmic molecules. Prog Biophys Mol Biol 94: 120-143, 2007.
    • (2007) Prog Biophys Mol Biol , vol.94 , pp. 120-143
    • Harris, A.L.1
  • 22
    • 0024165145 scopus 로고
    • Topology of the Mr 27,000 liver gap junction protein. Cytoplasmic localization of amino- and carboxyl termini and a hydrophilic domain which is protease-hypersensitive
    • Hertzberg EL, Disher RM, Tiller AA, Zhou Y, Cook RG. Topology of the Mr 27,000 liver gap junction protein. Cytoplasmic localization of amino- and carboxyl termini and a hydrophilic domain which is protease-hypersensitive. J Biol Chem 263: 19105-19111, 1988.
    • (1988) J Biol Chem , vol.263 , pp. 19105-19111
    • Hertzberg, E.L.1    Disher, R.M.2    Tiller, A.A.3    Zhou, Y.4    Cook, R.G.5
  • 24
    • 0011223791 scopus 로고
    • Low-resistance coupling between gland cells. Some observations on intercellular contact membranes and intercellular pace
    • Kanno Y, Loewenstein WR. Low-resistance coupling between gland cells. Some observations on intercellular contact membranes and intercellular pace. Nature 201: 194-195, 1964.
    • (1964) Nature , vol.201 , pp. 194-195
    • Kanno, Y.1    Loewenstein, W.R.2
  • 26
    • 0028843286 scopus 로고
    • Gap junctions in the rat cochlea: Immunohistochemical and ultrastructural analysis
    • Kikuchi T, Kimura RS, Paul DL, Adams JC. Gap junctions in the rat cochlea: immunohistochemical and ultrastructural analysis. Anat Embryol (Berl) 191: 101-118, 1995.
    • (1995) Anat Embryol (Berl) , vol.191 , pp. 101-118
    • Kikuchi, T.1    Kimura, R.S.2    Paul, D.L.3    Adams, J.C.4
  • 30
    • 0017850829 scopus 로고
    • Transmission of hormonal stimulation by cell-to-cell communication
    • Lawrence TS, Beers WH, Gilula NB. Transmission of hormonal stimulation by cell-to-cell communication. Nature 272: 501-506, 1978.
    • (1978) Nature , vol.272 , pp. 501-506
    • Lawrence, T.S.1    Beers, W.H.2    Gilula, N.B.3
  • 31
    • 0019624299 scopus 로고
    • Junctional intercellular communication: The cell-to-cell membrane channel
    • Loewenstein WR. Junctional intercellular communication: the cell-to-cell membrane channel. Physiol Rev 61: 829-913, 1981.
    • (1981) Physiol Rev , vol.61 , pp. 829-913
    • Loewenstein, W.R.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 NK, Casalotti SO, Portelli AE, Becker DL, Forge A. 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.
    • (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
    • 0025063573 scopus 로고
    • Limitations of the whole cell patch clamp technique in the control of intracellular concentrations
    • Mathias RT, Cohen IS, Oliva C. Limitations of the whole cell patch clamp technique in the control of intracellular concentrations. Biophys J 58: 759-770, 1990.
    • (1990) Biophys J , vol.58 , pp. 759-770
    • Mathias, R.T.1    Cohen, I.S.2    Oliva, C.3
  • 35
    • 4344715863 scopus 로고    scopus 로고
    • Altered gating properties of functional Cx26 mutants associated with recessive nonsyndromic hearing loss
    • Mese G, Londin E, Mui R, Brink PR, White TW. Altered gating properties of functional Cx26 mutants associated with recessive nonsyndromic hearing loss. Hum Genet 115: 191-199, 2004.
    • (2004) Hum Genet , vol.115 , pp. 191-199
    • Mese, G.1    Londin, E.2    Mui, R.3    Brink, P.R.4    White, T.W.5
  • 36
    • 35348891428 scopus 로고    scopus 로고
    • Gap junctions: Basic structure and function
    • Mese G, Richard G, White TW. Gap junctions: basic structure and function. J Invest Dermatol 127: 2516-2524, 2007.
    • (2007) J Invest Dermatol , vol.127 , pp. 2516-2524
    • Mese, G.1    Richard, G.2    White, T.W.3
  • 37
    • 0034167601 scopus 로고    scopus 로고
    • The molecular basis of selective permeability of connexins is complex and includes both size and charge
    • Nicholson BJ, Weber PA, Cao F, Chang H, Lampe P, Goldberg G. The molecular basis of selective permeability of connexins is complex and includes both size and charge. Braz J Med Biol Res 33: 369-378, 2000.
    • (2000) Braz J Med Biol Res , vol.33 , pp. 369-378
    • Nicholson, B.J.1    Weber, P.A.2    Cao, F.3    Chang, H.4    Lampe, P.5    Goldberg, G.6
  • 38
    • 0023701515 scopus 로고
    • Calculation of time constants for intracellular diffusion in whole cell patch clamp configuration
    • Oliva C, Cohen IS, Mathias RT. Calculation of time constants for intracellular diffusion in whole cell patch clamp configuration. Biophys J 54: 791-799, 1988.
    • (1988) Biophys J , vol.54 , pp. 791-799
    • Oliva, C.1    Cohen, I.S.2    Mathias, R.T.3
  • 39
    • 0037449718 scopus 로고    scopus 로고
    • Roles of Met-34, Cys-64, and Arg-75 in the assembly of human connexin 26. Implication for key amino acid residues for channel formation and function
    • Oshima A, Doi T, Mitsuoka K, Maeda S, Fujiyoshi Y. Roles of Met-34, Cys-64, and Arg-75 in the assembly of human connexin 26. Implication for key amino acid residues for channel formation and function. J Biol Chem 278: 1807-1816, 2003.
    • (2003) J Biol Chem , vol.278 , pp. 1807-1816
    • Oshima, A.1    Doi, T.2    Mitsuoka, K.3    Maeda, S.4    Fujiyoshi, Y.5
  • 40
    • 33645047652 scopus 로고    scopus 로고
    • Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment
    • Palmada M, Schmalisch K, Bohmer C, Schug N, Pfister M, Lang F, Blin N. Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment. Neurobiol Dis 22: 112-118, 2006.
    • (2006) Neurobiol Dis , vol.22 , pp. 112-118
    • Palmada, M.1    Schmalisch, K.2    Bohmer, C.3    Schug, N.4    Pfister, M.5    Lang, F.6    Blin, N.7
  • 41
    • 0014692227 scopus 로고
    • Permeability and structure of junctional membranes at an electrotonic synapse
    • Payton BW, Bennett MV, Pappas GD. Permeability and structure of junctional membranes at an electrotonic synapse. Science 166: 1641-1643, 1969.
    • (1969) Science , vol.166 , pp. 1641-1643
    • Payton, B.W.1    Bennett, M.V.2    Pappas, G.D.3
  • 42
    • 0015167614 scopus 로고
    • Gap junctions between electrotonically coupled cells in tissue culture and in brown fat
    • Revel JP, Yee AG, Hudspeth AJ. Gap junctions between electrotonically coupled cells in tissue culture and in brown fat. Proc Natl Acad Sci USA 68: 2924-2927, 1971.
    • (1971) Proc Natl Acad Sci USA , vol.68 , pp. 2924-2927
    • Revel, J.P.1    Yee, A.G.2    Hudspeth, A.J.3
  • 44
    • 0031722150 scopus 로고    scopus 로고
    • Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma
    • Richard G, White TW, Smith LE, Bailey RA, Compton JG, Paul DL, Bale SJ. Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma. Hum Genet 103: 393-399, 1998.
    • (1998) Hum Genet , vol.103 , pp. 393-399
    • Richard, G.1    White, T.W.2    Smith, L.E.3    Bailey, R.A.4    Compton, J.G.5    Paul, D.L.6    Bale, S.J.7
  • 46
    • 0031959735 scopus 로고    scopus 로고
    • A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q
    • Shiels A, Mackay D, Ionides A, Berry V, Moore A, Bhattacharya S. A missense mutation in the human connexin50 gene (GJA8) underlies autosomal dominant "zonular pulverulent" cataract, on chromosome 1q. Am J Hum Genet 62: 526-532, 1998.
    • (1998) Am J Hum Genet , vol.62 , pp. 526-532
    • Shiels, A.1    Mackay, D.2    Ionides, A.3    Berry, V.4    Moore, A.5    Bhattacharya, S.6
  • 47
    • 0017363750 scopus 로고
    • Size limit of molecules permeating the junctional membrane channels
    • Simpson I, Rose B, Loewenstein WR. Size limit of molecules permeating the junctional membrane channels. Science 195: 294-296, 1977.
    • (1977) Science , vol.195 , pp. 294-296
    • Simpson, I.1    Rose, B.2    Loewenstein, W.R.3
  • 48
    • 4644303598 scopus 로고    scopus 로고
    • Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T
    • Skerrett IM, Di WL, Kasperek EM, Kelsell DP, Nicholson BJ. Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T. FASEB J 18: 860-862, 2004.
    • (2004) FASEB J , vol.18 , pp. 860-862
    • Skerrett, I.M.1    Di, W.L.2    Kasperek, E.M.3    Kelsell, D.P.4    Nicholson, B.J.5
  • 49
    • 20444397355 scopus 로고    scopus 로고
    • Structural organization of gap junction channels
    • Sosinsky GE, Nicholson BJ. Structural organization of gap junction channels. Biochim Biophys Acta 1711: 99-125, 2005.
    • (2005) Biochim Biophys Acta , vol.1711 , pp. 99-125
    • Sosinsky, G.E.1    Nicholson, B.J.2
  • 50
    • 33750300467 scopus 로고    scopus 로고
    • Functional connexin "hemichannels": A critical appraisal
    • Spray DC, Ye ZC, Ransom BR. Functional connexin "hemichannels": a critical appraisal. Glia 54: 758-773, 2006.
    • (2006) Glia , vol.54 , pp. 758-773
    • Spray, D.C.1    Ye, Z.C.2    Ransom, B.R.3
  • 53
    • 0037178757 scopus 로고    scopus 로고
    • Cardiac gap junction channels show quantitative differences in selectivity
    • Valiunas V, Beyer EC, Brink PR. Cardiac gap junction channels show quantitative differences in selectivity. Circ Res 91: 104-111, 2002.
    • (2002) Circ Res , vol.91 , pp. 104-111
    • Valiunas, V.1    Beyer, E.C.2    Brink, P.R.3
  • 55
    • 0342944791 scopus 로고    scopus 로고
    • Electrophysiological properties of gap junction channels in hepatocytes isolated from connexin32-deficient and wild-type mice
    • Valiunas V, Niessen H, Willecke K, Weingart R. Electrophysiological properties of gap junction channels in hepatocytes isolated from connexin32-deficient and wild-type mice. Pflügers Arch 437: 846-856, 1999.
    • (1999) Pflügers Arch , vol.437 , pp. 846-856
    • Valiunas, V.1    Niessen, H.2    Willecke, K.3    Weingart, R.4
  • 58
    • 0028299152 scopus 로고
    • Opposite voltage gating polarities of two closely related connexins
    • Verselis VK, Ginter CS, Bargiello TA. Opposite voltage gating polarities of two closely related connexins. Nature 368: 348-351, 1994.
    • (1994) Nature , vol.368 , pp. 348-351
    • Verselis, V.K.1    Ginter, C.S.2    Bargiello, T.A.3
  • 60
    • 0036106166 scopus 로고    scopus 로고
    • K+ cycling and the endocochlear potential
    • Wangemann P. K+ cycling and the endocochlear potential. Hear Res 165: 1-9, 2002.
    • (2002) Hear Res , vol.165 , pp. 1-9
    • Wangemann, P.1
  • 61
    • 33748910482 scopus 로고    scopus 로고
    • Supporting sensory transduction: Cochlear fluid homeostasis and the endocochlear potential
    • Wangemann P. Supporting sensory transduction: cochlear fluid homeostasis and the endocochlear potential. J Physiol 576: 11-21, 2006.
    • (2006) J Physiol , vol.576 , pp. 11-21
    • Wangemann, P.1
  • 62
    • 1942485065 scopus 로고    scopus 로고
    • The permeability of gap junction channels to probes of different size is dependent on connexin composition and permeant-pore affinities
    • Weber PA, Chang HC, Spaeth KE, Nitsche JM, Nicholson BJ. The permeability of gap junction channels to probes of different size is dependent on connexin composition and permeant-pore affinities. Biophys J 87: 958-973, 2004.
    • (2004) Biophys J , vol.87 , pp. 958-973
    • Weber, P.A.1    Chang, H.C.2    Spaeth, K.E.3    Nitsche, J.M.4    Nicholson, B.J.5
  • 63
    • 0033002783 scopus 로고    scopus 로고
    • Genetic diseases and gene knockouts reveal diverse connexin functions
    • White TW, Paul DL. Genetic diseases and gene knockouts reveal diverse connexin functions. Annu Rev Physiol 61: 283-310, 1999.
    • (1999) Annu Rev Physiol , vol.61 , pp. 283-310
    • White, T.W.1    Paul, D.L.2
  • 67
    • 27244452111 scopus 로고    scopus 로고
    • Gap junctionmediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions
    • Zhang Y, Tang W, Ahmad S, Sipp JA, Chen P, Lin X. Gap junctionmediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions. Proc Natl Acad Sci USA 102: 15201-15206, 2005.
    • (2005) Proc Natl Acad Sci USA , vol.102 , pp. 15201-15206
    • Zhang, Y.1    Tang, W.2    Ahmad, S.3    Sipp, J.A.4    Chen, P.5    Lin, X.6
  • 68
    • 18844362687 scopus 로고    scopus 로고
    • Connexin26 is responsible for anionic molecule permeability in the cochlea for intercellular signalling and metabolic communications
    • Zhao HB. Connexin26 is responsible for anionic molecule permeability in the cochlea for intercellular signalling and metabolic communications. Eur J Neurosci 21: 1859-1868, 2005.
    • (2005) Eur J Neurosci , vol.21 , pp. 1859-1868
    • Zhao, H.B.1
  • 70
    • 33750002208 scopus 로고    scopus 로고
    • Distinct and gradient distributions of connexin26 and connexin30 in the cochlear sensory epithelium of guinea pigs
    • Zhao HB, Yu N. Distinct and gradient distributions of connexin26 and connexin30 in the cochlear sensory epithelium of guinea pigs. J Comp Neurol 499: 506-518, 2006.
    • (2006) J Comp Neurol , vol.499 , pp. 506-518
    • Zhao, H.B.1    Yu, N.2
  • 71
    • 0023644895 scopus 로고
    • Topological analysis of the major protein in isolated intact rat liver gap junctions and gap junction-derived single membrane structures
    • Zimmer DB, Green CR, Evans WH, Gilula NB. Topological analysis of the major protein in isolated intact rat liver gap junctions and gap junction-derived single membrane structures. J Biol Chem 262: 7751-7763, 1987.
    • (1987) J Biol Chem , vol.262 , pp. 7751-7763
    • Zimmer, D.B.1    Green, C.R.2    Evans, W.H.3    Gilula, N.B.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.