메뉴 건너뛰기




Volumn 17, Issue 9, 1998, Pages 883-889

A mutation in the connexin 50 (Cx50) gene is a candidate for the No2 mouse cataract

Author keywords

Cataract; Connexin; Gene mapping; Lens; Mouse; Mutation

Indexed keywords

ALANINE; ASPARTIC ACID; GAP JUNCTION PROTEIN; RESTRICTION ENDONUCLEASE;

EID: 0031658660     PISSN: 02713683     EISSN: None     Source Type: Journal    
DOI: 10.1076/ceyr.17.9.883.5144     Document Type: Article
Times cited : (82)

References (45)
  • 2
    • 0027957469 scopus 로고
    • Cell-to-cell communication in a differentiating ovine lens culture system
    • TenBroek EM, Johnson R, Louis CF. Cell-to-cell communication in a differentiating ovine lens culture system. Invest Ophthalmol Vis Sci. 1994;35:215-228.
    • (1994) Invest Ophthalmol Vis Sci , vol.35 , pp. 215-228
    • TenBroek, E.M.1    Johnson, R.2    Louis, C.F.3
  • 3
    • 0021868690 scopus 로고
    • Identification of a 70,000-D protein in lens membrane junctional domains
    • Kistler J, Kirkland B, Bullivant, S. Identification of a 70,000-D protein in lens membrane junctional domains. J Cell Biol. 1985;101:28-35.
    • (1985) J Cell Biol , vol.101 , pp. 28-35
    • Kistler, J.1    Kirkland, B.2    Bullivant, S.3
  • 4
    • 0027070644 scopus 로고
    • Mouse Cx50, a functional member of the connexin family of gap junction proteins, is the lens fiber protein MP70
    • White TW, Bruzzone R, Goodenough DA, Paul DL. Mouse Cx50, a functional member of the connexin family of gap junction proteins, is the lens fiber protein MP70. Mol Biol Cell. 1992;129:711-720.
    • (1992) Mol Biol Cell , vol.129 , pp. 711-720
    • White, T.W.1    Bruzzone, R.2    Goodenough, D.A.3    Paul, D.L.4
  • 5
    • 0025796856 scopus 로고
    • The human connexin gene family of gap junction proteins: Distinct chromosomal locations but similar structures
    • Fishman GI, Eddy RL, Shows TB, Rosenthal L, Leinwand LA. The human connexin gene family of gap junction proteins: distinct chromosomal locations but similar structures. Genomics. 1991;10:250-256.
    • (1991) Genomics , vol.10 , pp. 250-256
    • Fishman, G.I.1    Eddy, R.L.2    Shows, T.B.3    Rosenthal, L.4    Leinwand, L.A.5
  • 6
    • 0028897622 scopus 로고
    • The human lens intrinsic membrane protein MP70 (Cx50) gene: Clonal analysis and chromosomal mapping
    • Church RL, Wang J, Steele, E. The human lens intrinsic membrane protein MP70 (Cx50) gene: clonal analysis and chromosomal mapping. Curr Eye Res. 1994;14:215-221.
    • (1994) Curr Eye Res , vol.14 , pp. 215-221
    • Church, R.L.1    Wang, J.2    Steele, E.3
  • 7
    • 0029877202 scopus 로고    scopus 로고
    • Molecular cloning of sheep connexin 49 and its identity with MP70
    • Yang DI, Louis CF. Molecular cloning of sheep connexin 49 and its identity with MP70. Curr Eye Res. 1996; 15:307-314.
    • (1996) Curr Eye Res , vol.15 , pp. 307-314
    • Yang, D.I.1    Louis, C.F.2
  • 8
    • 0029117318 scopus 로고
    • Mapping of four mouse genes encoding eye lens-specific structural, gap junction, and integral membrane proteins: Cryba1 (crystallin βA3/A1), Crybb2 (crystallin βB2), Gja8 (MP70), and Lim2 (MP19)
    • Kerscher S, Church RL, Boyd Y, Lyon MF. Mapping of four mouse genes encoding eye lens-specific structural, gap junction, and integral membrane proteins: Cryba1 (crystallin βA3/A1), Crybb2 (crystallin βB2), Gja8 (MP70), and Lim2 (MP19). Genomics. 1995;29:445-450.
    • (1995) Genomics , vol.29 , pp. 445-450
    • Kerscher, S.1    Church, R.L.2    Boyd, Y.3    Lyon, M.F.4
  • 9
    • 0031576625 scopus 로고    scopus 로고
    • Regional mapping of the human MP70 (Cx50) gene by fluorescence in situ hybridization to 1q21.1
    • Geyer DD, Church RL, Steele EC, et al. Regional mapping of the human MP70 (Cx50) gene by fluorescence in situ hybridization to 1q21.1. Mol Vis [serial online]. 1997;3:13. Available at: http://www.emory.edu/molvis/v3/geyer.
    • (1997) Mol Vis [Serial Online] , vol.3 , pp. 13
    • Geyer, D.D.1    Church, R.L.2    Steele, E.C.3
  • 10
    • 0020554783 scopus 로고
    • A comparison of the dominant cataract and recessive specific-locus mutation rates induced by treatment of male mice with ethylnitrosourea
    • Favor J. A comparison of the dominant cataract and recessive specific-locus mutation rates induced by treatment of male mice with ethylnitrosourea. Mutat Res. 1983;110: 367-382.
    • (1983) Mutat Res , vol.110 , pp. 367-382
    • Favor, J.1
  • 11
    • 0021711378 scopus 로고
    • Characterization of dominant cataract mutations in mice: Penetrance, fertility and homozygous viability of mutations recovered after 250 mg/kg ethylnitrosourea paternal treatment
    • Favor J. Characterization of dominant cataract mutations in mice: penetrance, fertility and homozygous viability of mutations recovered after 250 mg/kg ethylnitrosourea paternal treatment. Genet Res Camb. 1984;44:183-197.
    • (1984) Genet Res Camb , vol.44 , pp. 183-197
    • Favor, J.1
  • 12
    • 0002874789 scopus 로고    scopus 로고
    • Identification of a mutation in the connexin 50 (Cx50) gene of the No2 cataractous mouse mutant
    • Werner R, ed. Amsterdam, Netherlands: ISO Press
    • Steele EC Jr, Lyon MF, Glenister PH, Guillot PV, Church RL. Identification of a mutation in the connexin 50 (Cx50) gene of the No2 cataractous mouse mutant. In: Werner R, ed. Gap Junctions. Amsterdam, Netherlands: ISO Press; 1998:289-293.
    • (1998) Gap Junctions , pp. 289-293
    • Steele Jr., E.C.1    Lyon, M.F.2    Glenister, P.H.3    Guillot, P.V.4    Church, R.L.5
  • 13
    • 0000457381 scopus 로고
    • Preparation of genomic DNA from mammalian tissue
    • New York, NY: Greene Publishing Associates and Wiley-Interscience
    • Strauss WF. Preparation of genomic DNA from mammalian tissue. In: Current Protocols in Molecular Biology. New York, NY: Greene Publishing Associates and Wiley-Interscience; 1987:2.2.1-2.2.3.
    • (1987) Current Protocols in Molecular Biology
    • Strauss, W.F.1
  • 14
    • 4244138385 scopus 로고
    • "Matted," a new hair-mutant in the house mouse: Genetics and morphology
    • Searle AG, Spearman RI. "Matted," a new hair-mutant in the house mouse: genetics and morphology. J Embryol Exp Morphol. 1957;5:93-102.
    • (1957) J Embryol Exp Morphol , vol.5 , pp. 93-102
    • Searle, A.G.1    Spearman, R.I.2
  • 15
    • 0000861497 scopus 로고
    • The varitint-waddler mouse
    • Cloudman AM, Bunker LE. The varitint-waddler mouse. J Hered. 1945;36:258-263.
    • (1945) J Hered , vol.36 , pp. 258-263
    • Cloudman, A.M.1    Bunker, L.E.2
  • 16
    • 0020620001 scopus 로고
    • Cloning of cDNA encoding the pre-beta subunit of mouse thyrotropin
    • Gurr JA, Catterall JF, Kourides IA. Cloning of cDNA encoding the pre-beta subunit of mouse thyrotropin. Proc Natl Acad Sci USA. 1983;80:2122-2126.
    • (1983) Proc Natl Acad Sci USA , vol.80 , pp. 2122-2126
    • Gurr, J.A.1    Catterall, J.F.2    Kourides, I.A.3
  • 17
    • 0031109750 scopus 로고    scopus 로고
    • The genes of the lysosomal cysteine proteases cathepsin B, H, L and S map to different mouse chromosomes
    • Deussing J, Roth W, Rommerskirch W, Wiederanders B, von Kigura K. The genes of the lysosomal cysteine proteases cathepsin B, H, L and S map to different mouse chromosomes. Mammal Genome. 1997;8:241-245.
    • (1997) Mammal Genome , vol.8 , pp. 241-245
    • Deussing, J.1    Roth, W.2    Rommerskirch, W.3    Wiederanders, B.4    Von Kigura, K.5
  • 18
    • 0031081692 scopus 로고    scopus 로고
    • Mapping of the mouse actin capping protein α subunit genes and pseudogenes
    • Hart MC, Korshanova YO, Cooper JA. Mapping of the mouse actin capping protein α subunit genes and pseudogenes. Genomics. 1997;39:264-270.
    • (1997) Genomics , vol.39 , pp. 264-270
    • Hart, M.C.1    Korshanova, Y.O.2    Cooper, J.A.3
  • 20
    • 0020552057 scopus 로고
    • Analysis of a mouse alpha-globin gene mutation induced by ethylnitrosourea
    • Popp RA, Bailiff EG, Skow LC, Johnson FM, Lewis SE. Analysis of a mouse alpha-globin gene mutation induced by ethylnitrosourea. Genetics. 1983;105:157-167.
    • (1983) Genetics , vol.105 , pp. 157-167
    • Popp, R.A.1    Bailiff, E.G.2    Skow, L.C.3    Johnson, F.M.4    Lewis, S.E.5
  • 22
    • 0031024091 scopus 로고    scopus 로고
    • Spectrum of Bmp5 mutations from germline mutagenesis experiments in mice
    • Marker PC, Seung K, Bland AE, Russell LB, Kingsley DM. Spectrum of Bmp5 mutations from germline mutagenesis experiments in mice. Genetics. 1997;145:435-443.
    • (1997) Genetics , vol.145 , pp. 435-443
    • Marker, P.C.1    Seung, K.2    Bland, A.E.3    Russell, L.B.4    Kingsley, D.M.5
  • 23
    • 0026566346 scopus 로고
    • A domain substitution procedure and its use to analyze voltage dependence of homotypic gap junctions formed by connexins 26 and 32
    • Rubin JB, Verselis VK, Bennett MVL, Bargiello TA. A domain substitution procedure and its use to analyze voltage dependence of homotypic gap junctions formed by connexins 26 and 32. Proc Natl Acad Sci USA. 1992;89: 3820-3824.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 3820-3824
    • Rubin, J.B.1    Verselis, V.K.2    Bennett, M.V.L.3    Bargiello, T.A.4
  • 24
    • 0026666944 scopus 로고
    • Molecular analysis of voltage dependence of heterotypic gap junctions formed by connexins 26 and 32
    • Rubin JB, Verselis VK, Bennett MVL, Bargiello TA. Molecular analysis of voltage dependence of heterotypic gap junctions formed by connexins 26 and 32. Biophys J. 1992;62:183-195.
    • (1992) Biophys J , vol.62 , pp. 183-195
    • Rubin, J.B.1    Verselis, V.K.2    Bennett, M.V.L.3    Bargiello, T.A.4
  • 25
    • 0027772413 scopus 로고
    • Connexin mutations in X-linked Charcot-Marie-Tooth disease
    • Bergoffen J, Scherer SS, Wang S, et al. Connexin mutations in X-linked Charcot-Marie-Tooth disease. Science. 1993;262:2039-2042.
    • (1993) Science , vol.262 , pp. 2039-2042
    • Bergoffen, J.1    Scherer, S.S.2    Wang, S.3
  • 26
    • 0029060788 scopus 로고
    • Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality
    • Britz-Cunningham SH, Shah MM, Zuppan CW, Fletcher WH. Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality. N Engl J Med. 1995;332(20):1323-1329.
    • (1995) N Engl J Med , vol.332 , Issue.20 , pp. 1323-1329
    • Britz-Cunningham, S.H.1    Shah, M.M.2    Zuppan, C.W.3    Fletcher, W.H.4
  • 27
    • 9844252338 scopus 로고    scopus 로고
    • Prelingual deafness: High prevalence of a 30delG mutation in the connexin 26 gene
    • Denoyelle F, Weil D, Maw MA, et al. Prelingual deafness: high prevalence of a 30delG mutation in the connexin 26 gene. Hum Mol Genet. 1997;6:2173-2177.
    • (1997) Hum Mol Genet , vol.6 , pp. 2173-2177
    • Denoyelle, F.1    Weil, D.2    Maw, M.A.3
  • 28
    • 0031283282 scopus 로고    scopus 로고
    • Disruption of alpha3 connexin gene leads to proteolysis and cataractogenesis in mice
    • Gong X, Li E, Klier G, et al. Disruption of alpha3 connexin gene leads to proteolysis and cataractogenesis in mice. Cell. 1997;91:833-843.
    • (1997) Cell , vol.91 , pp. 833-843
    • Gong, X.1    Li, E.2    Klier, G.3
  • 29
    • 0001583612 scopus 로고
    • Seven new pedigrees of hereditary cataract
    • Nettleship E. Seven new pedigrees of hereditary cataract. Trans Ophthalmol Soc UK. 1909;29:188-211.
    • (1909) Trans Ophthalmol Soc UK , vol.29 , pp. 188-211
    • Nettleship, E.1
  • 31
    • 0002288531 scopus 로고
    • Probable linkage between a congenital cataract locus and the Duffy blood group locus
    • Renwick JH, Lawler SD. Probable linkage between a congenital cataract locus and the Duffy blood group locus. Ann Hum Genet. 1963;27:67-84.
    • (1963) Ann Hum Genet , vol.27 , pp. 67-84
    • Renwick, J.H.1    Lawler, S.D.2
  • 32
    • 0013984150 scopus 로고
    • Identity of mutant genes "Shrivelled" and cataracta congenita subcapsularis in the mouse
    • Verrusio AC, Fraser, FC. Identity of mutant genes "Shrivelled" and cataracta congenita subcapsularis in the mouse. Genet Res. 1966;8:377-378.
    • (1966) Genet Res , vol.8 , pp. 377-378
    • Verrusio, A.C.1    Fraser, F.C.2
  • 33
    • 0019853818 scopus 로고
    • Lens Opacity: A new gene for congenital cataract on chromosome 10 of the mouse
    • Lyon MF, Jarvis SE, Sayers I, Holmes RS. Lens Opacity: a new gene for congenital cataract on chromosome 10 of the mouse. Genet Res. 1981;38:337-341.
    • (1981) Genet Res , vol.38 , pp. 337-341
    • Lyon, M.F.1    Jarvis, S.E.2    Sayers, I.3    Holmes, R.S.4
  • 34
    • 0030031158 scopus 로고    scopus 로고
    • Mutations in the founder of the MIP gene family underlie cataract development in the mouse
    • Shiels A, Bassnett S. Mutations in the founder of the MIP gene family underlie cataract development in the mouse. Nat Genet. 1996;12:212-215.
    • (1996) Nat Genet , vol.12 , pp. 212-215
    • Shiels, A.1    Bassnett, S.2
  • 35
    • 0021712623 scopus 로고
    • The major intrinsic protein (MIP) of the bovine lens fiber membrane: Characterization and structure based on cDNA cloning
    • Gorin MB, Yancey BS, Cline J, Revel JP, Horwitz J. The major intrinsic protein (MIP) of the bovine lens fiber membrane: characterization and structure based on cDNA cloning. Cell. 1984;39:49-59.
    • (1984) Cell , vol.39 , pp. 49-59
    • Gorin, M.B.1    Yancey, B.S.2    Cline, J.3    Revel, J.P.4    Horwitz, J.5
  • 36
    • 0027233420 scopus 로고
    • The Mip family of integral membrane channel proteins: Sequence comparisons, evolutionary relationships, reconstructed pathway of evolution and proposed functional differentiation of the two repeated halves of the proteins
    • Reizer J, Reizer A, Saier, MH. The Mip family of integral membrane channel proteins: sequence comparisons, evolutionary relationships, reconstructed pathway of evolution and proposed functional differentiation of the two repeated halves of the proteins. Crit Rev Biochem Molec Biol. 1993;28:235-257.
    • (1993) Crit Rev Biochem Molec Biol , vol.28 , pp. 235-257
    • Reizer, J.1    Reizer, A.2    Saier, M.H.3
  • 37
    • 0030586841 scopus 로고    scopus 로고
    • Two new cataract loci, Ccw and To3, and further mapping of the Npp and Opj cataracts in the mouse
    • Kerscher S, Glenister PH, Favor J, Lyon MF. Two new cataract loci, Ccw and To3, and further mapping of the Npp and Opj cataracts in the mouse. Genomics. 1996;36:17-21.
    • (1996) Genomics , vol.36 , pp. 17-21
    • Kerscher, S.1    Glenister, P.H.2    Favor, J.3    Lyon, M.F.4
  • 38
    • 0031557714 scopus 로고    scopus 로고
    • Identification of a mutation in the MP19 gene, Lim2, in the cataractous mouse mutant To3
    • Steele EC Jr, Kerscher S, Lyon MF, et al. Identification of a mutation in the MP19 gene, Lim2, in the cataractous mouse mutant To3. Mol Vis [serial online]. 1997;3:5. Available at: http://www.emory.edu/molvis/v3/steele.
    • (1997) Mol Vis [Serial Online] , vol.3 , pp. 5
    • Steele Jr., E.C.1    Kerscher, S.2    Lyon, M.F.3
  • 39
    • 0026636987 scopus 로고
    • Molecular cloning of mouse connexin 26 and-32: Similar genomic organization but distinct promoter sequences of two gap junction genes
    • Henneman H, Kozjek G, Dahl E, Nicholson B, Willecke K. Molecular cloning of mouse connexin 26 and-32: similar genomic organization but distinct promoter sequences of two gap junction genes. Eur J Cell Biol. 1992;58:81-89.
    • (1992) Eur J Cell Biol , vol.58 , pp. 81-89
    • Henneman, H.1    Kozjek, G.2    Dahl, E.3    Nicholson, B.4    Willecke, K.5
  • 40
    • 0029954685 scopus 로고    scopus 로고
    • Molecular cloning and functional expression of mouse connexin-30, a gap junction gene highly expressed in adult brain and skin
    • Dahl E, Manthey D, Chen Y, et al. Molecular cloning and functional expression of mouse connexin-30, a gap junction gene highly expressed in adult brain and skin. J Biol Chem. 1996;271:17903-17910.
    • (1996) J Biol Chem , vol.271 , pp. 17903-17910
    • Dahl, E.1    Manthey, D.2    Chen, Y.3
  • 41
    • 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
    • Heneeman H, Dahl E, White J, et al. 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. 1992;267:17225-17233.
    • (1992) J Biol Chem , vol.267 , pp. 17225-17233
    • Heneeman, H.1    Dahl, E.2    White, J.3
  • 42
    • 0026575430 scopus 로고
    • Characterization of gap junction genes expressed in F9 embryonic carcinoma cells: Molecular cloning of mouse 31 and -45 cDNAs
    • Henneman H, Schwarz HJ, Willecke K. Characterization of gap junction genes expressed in F9 embryonic carcinoma cells: molecular cloning of mouse 31 and -45 cDNAs. Eur J Cell Biol. 1992;57:51-58.
    • (1992) Eur J Cell Biol , vol.57 , pp. 51-58
    • Henneman, H.1    Schwarz, H.J.2    Willecke, K.3
  • 43
    • 0025817567 scopus 로고
    • Developmental regulation of gap junction gene expression during mouse embryonic development
    • Nishi M, Kumar NM, Gilula NB. Developmental regulation of gap junction gene expression during mouse embryonic development. Dev Biol. 1991;146:117-180.
    • (1991) Dev Biol , vol.146 , pp. 117-180
    • Nishi, M.1    Kumar, N.M.2    Gilula, N.B.3
  • 44
    • 0025838007 scopus 로고
    • Mouse connexin37: Cloning and functional expression of a gap junction gene highly expressed in lung
    • Willecke K, Heynkes R, Dahl E, et al. Mouse connexin37: cloning and functional expression of a gap junction gene highly expressed in lung. J Cell Biol. 1991;114:1049-1057.
    • (1991) J Cell Biol , vol.114 , pp. 1049-1057
    • Willecke, K.1    Heynkes, R.2    Dahl, E.3
  • 45
    • 0026776750 scopus 로고
    • Molecular cloning and functional expression of mouse connexin 40, a second gap junction gene preferentially expressed in lung
    • Henneman H, Suchyna T, Lichtenberg-Frate H, et al. Molecular cloning and functional expression of mouse connexin 40, a second gap junction gene preferentially expressed in lung. J Cell Biol. 1992;117:1299-1310.
    • (1992) J Cell Biol , vol.117 , pp. 1299-1310
    • Henneman, H.1    Suchyna, T.2    Lichtenberg-Frate, H.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.