메뉴 건너뛰기




Volumn 48, Issue 1, 2000, Pages 5-13

Molecular genetics of cataract

Author keywords

Gene mutation; Genetic mapping; Genetics; Hereditary cataract; Mouse models

Indexed keywords

CRYSTALLIN; DNA;

EID: 0034157279     PISSN: 03014738     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (19)

References (57)
  • 1
    • 0030725582 scopus 로고    scopus 로고
    • The crystallins: Genes, proteins and diseases
    • Graw J. The Crystallins: Genes, Proteins and Diseases. Biol Chem 1997;378:1331-48.
    • (1997) Biol Chem , vol.378 , pp. 1331-1348
    • Graw, J.1
  • 2
    • 0030219742 scopus 로고    scopus 로고
    • Lens development and crystallin gene expression: Many roles for Pax 6
    • CvekI A, Piatigorsky J. Lens development and crystallin gene expression: many roles for Pax 6. BioEssays 1996;18:621-30.
    • (1996) BioEssays , vol.18 , pp. 621-630
    • Cveki, A.1    Piatigorsky, J.2
  • 3
    • 0037862721 scopus 로고
    • Molecular biology and inherited disorders of the eye lens
    • Scriver CR, Beaudet AL, Sly WS, Valle D, (editors). Mc Graw Hill, New York, USA
    • Hejtmancik JF, Kaiser MI, Piatigorsky J. Molecular biology and inherited disorders of the eye lens. In: Scriver CR, Beaudet AL, Sly WS, Valle D, (editors). The Metabolic Basis of Inherited Disease. Mc Graw Hill, New York, USA: 1995. pp 4325-49.
    • (1995) The Metabolic Basis of Inherited Disease , pp. 4325-4349
    • Hejtmancik, J.F.1    Kaiser, M.I.2    Piatigorsky, J.3
  • 5
    • 0002527685 scopus 로고
    • Untersuchung der proteinsubstanzen in den leichtbreechenden medien des auges
    • Cited in ref. 3
    • Morner CT. Untersuchung der proteinsubstanzen in den leichtbreechenden medien des auges. Hoppe Seyler's Z Physiol Chem 1894;18:61-106. Cited in ref. 3.
    • (1894) Hoppe Seyler's Z Physiol Chem , vol.18 , pp. 61-106
    • Morner, C.T.1
  • 6
    • 0026040828 scopus 로고
    • Immunoreactive α-crystallin in rat non-lenticular tissues detected with a sensitive immunoassay method
    • Kato K, Shinohara H, Kurobe N, Goto S, Inagumma Y, Ohshima K. Immunoreactive α-crystallin in rat non-lenticular tissues detected with a sensitive immunoassay method. Biochim Biophys Acta 1991;1080:173-80.
    • (1991) Biochim Biophys Acta , vol.1080 , pp. 173-180
    • Kato, K.1    Shinohara, H.2    Kurobe, N.3    Goto, S.4    Inagumma, Y.5    Ohshima, K.6
  • 8
    • 0020063988 scopus 로고
    • Four small Drosophila heat shock proteins are related to each other and to mammalian α-crystallin
    • Ingolia TD, Craig EA. Four small Drosophila heat shock proteins are related to each other and to mammalian α-crystallin. Proc Natl Acad Sci USA 1982;79:2360-64.
    • (1982) Proc Natl Acad Sci USA , vol.79 , pp. 2360-2364
    • Ingolia, T.D.1    Craig, E.A.2
  • 9
    • 0026483279 scopus 로고
    • α-crystallin can function as a molecular chaperone
    • Horwitz J. α-crystallin can function as a molecular chaperone. Proc Natl Acad Sci USA 1992;89:10449-53.
    • (1992) Proc Natl Acad Sci USA , vol.89 , pp. 10449-10453
    • Horwitz, J.1
  • 11
    • 0028831015 scopus 로고
    • In vitro studies on the assembly properties of the lens proteins CP49, CP115: Coassembly with α-crystallin but not with vimentin
    • Carter JM, Hutcheson AM, Quinlan RA. In vitro studies on the assembly properties of the lens proteins CP49, CP115: coassembly with α-crystallin but not with vimentin. Exp Eye Res 1995;60:181-92.
    • (1995) Exp Eye Res , vol.60 , pp. 181-192
    • Carter, J.M.1    Hutcheson, A.M.2    Quinlan, R.A.3
  • 12
    • 0030868827 scopus 로고    scopus 로고
    • Molecular genetics is revolutionizing our understanding of ophthalmic disease
    • Damji KF, Allingham RR. Molecular genetics is revolutionizing our understanding of ophthalmic disease. Am J Ophthalmol 1997;124:530-43.
    • (1997) Am J Ophthalmol , vol.124 , pp. 530-543
    • Damji, K.F.1    Allingham, R.R.2
  • 13
    • 0029744789 scopus 로고    scopus 로고
    • The revolution in molecular genetics and its impact on ophthalmology
    • Della NG. The revolution in molecular genetics and its impact on ophthalmology. Austral NZ J Ophthalmol 1996;24:85-95.
    • (1996) Austral NZ J Ophthalmol , vol.24 , pp. 85-95
    • Della, N.G.1
  • 14
    • 0026541042 scopus 로고
    • Gene mapping of ocular diseases
    • Musarella MA. Gene mapping of ocular diseases. Surv Ophthalmol 1992;36:285-312.
    • (1992) Surv Ophthalmol , vol.36 , pp. 285-312
    • Musarella, M.A.1
  • 16
    • 4243269023 scopus 로고
    • En kataraktos bondefamilie
    • Cited in ref. 3
    • Giersing OM. En kataraktos Bondefamilie. Ugeskr Laeger 3 1878; XXVI: 273-277. Cited in ref. 3.
    • (1878) Ugeskr Laeger , vol.3-26 , pp. 273-277
    • Giersing, O.M.1
  • 17
    • 0024334955 scopus 로고
    • Autosomal dominant congenital cataract: Morphology and genetic mapping
    • Marner E, Rosenberg T, Eiberg H. Autosomal dominant congenital cataract: morphology and genetic mapping. Acta Ophthalmol 1989;67:151-58.
    • (1989) Acta Ophthalmol , vol.67 , pp. 151-158
    • Marner, E.1    Rosenberg, T.2    Eiberg, H.3
  • 18
    • 0000825759 scopus 로고
    • A family with eight generations of hereditary cataract
    • Marner E. A family with eight generations of hereditary cataract. Acta Ophthalmol 1949;27:537-51.
    • (1949) Acta Ophthalmol , vol.27 , pp. 537-551
    • Marner, E.1
  • 19
    • 0023715273 scopus 로고
    • Marners cataract (CAM) assigned to chromosome 16: Linkage to haptoglobin
    • Eiberg H, Marner E, Rosenberg T, Mohr J. Marners cataract (CAM) assigned to chromosome 16: linkage to haptoglobin. Clin Genet 1988;34:272-75.
    • (1988) Clin Genet , vol.34 , pp. 272-275
    • Eiberg, H.1    Marner, E.2    Rosenberg, T.3    Mohr, J.4
  • 20
    • 0030762388 scopus 로고    scopus 로고
    • Mouse mutations as models for studying Cataracts
    • Smith RS, Sundberg JP, Linder CC. Mouse mutations as models for studying Cataracts. Pathobiol 1997;65:146-54.
    • (1997) Pathobiol , vol.65 , pp. 146-154
    • Smith, R.S.1    Sundberg, J.P.2    Linder, C.C.3
  • 22
    • 0025778685 scopus 로고
    • Deletion mutation in an eye lens β-crystallin
    • Chambers C, Russell P. Deletion mutation in an eye lens β-crystallin. J Biol Chem 1991;266:6742-46.
    • (1991) J Biol Chem , vol.266 , pp. 6742-6746
    • Chambers, C.1    Russell, P.2
  • 25
    • 0030914095 scopus 로고    scopus 로고
    • Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene
    • Litt M, Carrero-Valenzuela R, La Morticella DM, Schultz DW, Mitchell TN, Kramer P, et al. Autosomal dominant cerulean cataract is associated with a chain termination mutation in the human beta-crystallin gene. Hum Mol Genet 1997;6:665-68.
    • (1997) Hum Mol Genet , vol.6 , pp. 665-668
    • Litt, M.1    Carrero-Valenzuela, R.2    La Morticella, D.M.3    Schultz, D.W.4    Mitchell, T.N.5    Kramer, P.6
  • 28
    • 0029095859 scopus 로고
    • Autosomal dominant zonular cataract with sutural opacities localised to chromosome 17q11-12
    • Padma T, Ayyagari R, Murty JS, Basti S, Fletcher T, Rao GN, et al. Autosomal dominant zonular cataract with sutural opacities localised to chromosome 17q11-12. Am J Hum Genet 1995;57:840-45.
    • (1995) Am J Hum Genet , vol.57 , pp. 840-845
    • Padma, T.1    Ayyagari, R.2    Murty, J.S.3    Basti, S.4    Fletcher, T.5    Rao, G.N.6
  • 29
    • 0032561116 scopus 로고    scopus 로고
    • Autosomal dominan: Zonular cataract with sutural opacities is associated with a splice mutation in the βA3/A1-crystallin gene
    • Kannabiran C, Rogan PK, Olmos L, Basti S, Rao GN, et al. Autosomal dominan: zonular cataract with sutural opacities is associated with a splice mutation in the βA3/A1-crystallin gene. Mol Vis 1998;4:21-26.
    • (1998) Mol Vis , vol.4 , pp. 21-26
    • Kannabiran, C.1    Rogan, P.K.2    Olmos, L.3    Basti, S.4    Rao, G.N.5
  • 30
    • 0023651307 scopus 로고
    • RNA splice junctions of different classes of eukaryotes: Sequence statistics and functional implications in gene expression
    • Shapiro MB, Senapathy P. RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression. Nucl Acids Res 1987;15:7155-74.
    • (1987) Nucl Acids Res , vol.15 , pp. 7155-7174
    • Shapiro, M.B.1    Senapathy, P.2
  • 31
    • 0031934121 scopus 로고    scopus 로고
    • Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA
    • Litt M, Kramer P, La Morticella D, Murphey W, Lovrien EW, Weleber RG. Autosomal dominant congenital cataract associated with a missense mutation in the human alpha crystallin gene CRYAA. Hum Mol Genet 1998;7:471-74.
    • (1998) Hum Mol Genet , vol.7 , pp. 471-474
    • Litt, M.1    Kramer, P.2    La Morticella, D.3    Murphey, W.4    Lovrien, E.W.5    Weleber, R.G.6
  • 33
    • 0031283282 scopus 로고    scopus 로고
    • Disruption of α3 connexin gene leads to proteolysis and cataractogenesis in mice
    • Gong X, Li E, Klier G, Huang Q, Wu Y, Lei H, et al. Disruption of α3 connexin gene leads to proteolysis and cataractogenesis in mice. Cell 1997;91:833-43.
    • (1997) Cell , vol.91 , pp. 833-843
    • Gong, X.1    Li, E.2    Klier, G.3    Huang, Q.4    Wu, Y.5    Lei, H.6
  • 34
    • 0031959735 scopus 로고    scopus 로고
    • A missense mutation in the human connexin 50 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 connexin 50 gene (GJA8) underlies autosomal dominant 'zonular pulverulent' cataract, on chromosome 1q. Am J Hum Genet 1998;62:526-32.
    • (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
  • 35
    • 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
  • 36
    • 0001583612 scopus 로고
    • Seven new pedigrees of hereditary cataract
    • Cited in ref. 33
    • Nettleship E. Seven new pedigrees of hereditary cataract. Trans Ophthalmol Soc UK 1909;29:188-211. Cited in ref. 33.
    • (1909) Trans Ophthalmol Soc UK , vol.29 , pp. 188-211
    • Nettleship, E.1
  • 37
    • 0014841758 scopus 로고
    • Eyes on chromosomes
    • Renwick JH. Eyes on chromosomes. J Med Genet 1970;7:239-43.
    • (1970) J Med Genet , vol.7 , pp. 239-243
    • Renwick, J.H.1
  • 39
    • 0029968310 scopus 로고    scopus 로고
    • Cataract mutations as a tool for developmental geneticists
    • Graw J. Cataract mutations as a tool for developmental geneticists. Ophthalmic Res 1996;28:1(Suppl)8-18.
    • (1996) Ophthalmic Res , vol.28 , Issue.1 SUPPL. , pp. 8-18
    • Graw, J.1
  • 40
    • 0026576107 scopus 로고
    • Sequence and expression pattern of pax6 are highly conserved between zebrafish and mice
    • Puschel AW, Gruss P, Westerfield M. Sequence and expression pattern of pax6 are highly conserved between zebrafish and mice. Development 1992;114:643-51.
    • (1992) Development , vol.114 , pp. 643-651
    • Puschel, A.W.1    Gruss, P.2    Westerfield, M.3
  • 43
    • 0020043627 scopus 로고
    • Variable expressivity of autosomal dominant anterior segment mesenchymal dysgenesis in six generations
    • Hittner HM, Kretzer FL, Antoszyk JH, Ferrel RE, Menta RS. Variable expressivity of autosomal dominant anterior segment mesenchymal dysgenesis in six generations. Am J Ophthalmol 1982;93:57-70.
    • (1982) Am J Ophthalmol , vol.93 , pp. 57-70
    • Hittner, H.M.1    Kretzer, F.L.2    Antoszyk, J.H.3    Ferrel, R.E.4    Menta, R.S.5
  • 44
    • 0026802070 scopus 로고
    • Autosomal dominant congenital cataract and microphthalmia associated with a familial t(2;16) translocation
    • Yokoyama Y, Narahara K, Tsuji K, Ninomiya S, Seino Y. Autosomal dominant congenital cataract and microphthalmia associated with a familial t(2;16) translocation. Hum Genet 1992;90:177-78.
    • (1992) Hum Genet , vol.90 , pp. 177-178
    • Yokoyama, Y.1    Narahara, K.2    Tsuji, K.3    Ninomiya, S.4    Seino, Y.5
  • 45
    • 0028328760 scopus 로고
    • Anterior polar cataract in two sisters with an unbalanced 3;18 translocation
    • Rubin SE, Nelson LB, Pletcher BA. Anterior polar cataract in two sisters with an unbalanced 3;18 translocation. Am J Ophthalmol 1994;117:512-15.
    • (1994) Am J Ophthalmol , vol.117 , pp. 512-515
    • Rubin, S.E.1    Nelson, L.B.2    Pletcher, B.A.3
  • 46
    • 0021347788 scopus 로고
    • Autosomal dominant anterior polar cataracts associated with a familial 2;14 translocation
    • Moross T, Vaithilingam SS, Styles S, Gardner HA. Autosomal dominant anterior polar cataracts associated with a familial 2;14 translocation. J Med Genet 1984;21:52-53.
    • (1984) J Med Genet , vol.21 , pp. 52-53
    • Moross, T.1    Vaithilingam, S.S.2    Styles, S.3    Gardner, H.A.4
  • 47
    • 0028835546 scopus 로고
    • A progressive early onset cataract gene maps to human chromosome 17q24
    • Armitage MM, Kivlin JD, Ferrel RE. A progressive early onset cataract gene maps to human chromosome 17q24. Nat Genet 1995;9:37-40.
    • (1995) Nat Genet , vol.9 , pp. 37-40
    • Armitage, M.M.1    Kivlin, J.D.2    Ferrel, R.E.3
  • 48
    • 0029002373 scopus 로고
    • Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36
    • Eiberg H, Lund AM, Warburg M, Rosenberg T. Assignment of congenital cataract Volkmann type (CCV) to chromosome 1p36. Hum Genet 1995;96:33-38.
    • (1995) Hum Genet , vol.96 , pp. 33-38
    • Eiberg, H.1    Lund, A.M.2    Warburg, M.3    Rosenberg, T.4
  • 52
    • 0026094642 scopus 로고
    • Immunochemical comparison of the major intrinsic protein of eye-lens fibre cell membranes in mice with hereditary cataracts
    • Shiels A, Griffin CS, Muggleton-Harris AL. Immunochemical comparison of the major intrinsic protein of eye-lens fibre cell membranes in mice with hereditary cataracts. Biochim Biophys Acta 1991;1097:318-24.
    • (1991) Biochim Biophys Acta , vol.1097 , pp. 318-324
    • Shiels, A.1    Griffin, C.S.2    Muggleton-Harris, A.L.3
  • 53
    • 0026921910 scopus 로고
    • A frameshift mutation in the gamrnaE-crystallin gene of the ELO mouse
    • Cartier M, Breitman ML, Tsui LC. A frameshift mutation in the gamrnaE-crystallin gene of the ELO mouse. Nat Genet 1992;2:42-45.
    • (1992) Nat Genet , vol.2 , pp. 42-45
    • Cartier, M.1    Breitman, M.L.2    Tsui, L.C.3
  • 54
    • 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;12:212-15.
    • (1996) Nat Genet , vol.12 , pp. 212-215
    • Shiels, A.1    Bassnett, S.2
  • 55
    • 0031557714 scopus 로고    scopus 로고
    • Identification of a mutation in the MP19 gene Lim 2, in the cataractous mouse mutant To3
    • Steele EC Jr, Kerscher S, Lyon MF, Glenister PH, Favor J, Wang J, et al. Identification of a mutation in the MP19 gene Lim 2, in the cataractous mouse mutant To3. Mol Vis 1997;3:5.
    • (1997) Mol Vis , vol.3 , pp. 5
    • Steele E.C., Jr.1    Kerscher, S.2    Lyon, M.F.3    Glenister, P.H.4    Favor, J.5    Wang, J.6
  • 57
    • 0032169097 scopus 로고    scopus 로고
    • Three murine cataract mutants (Cat2) are defective in different gamma-crystallin genes
    • Klopp N, Favor J, Loster J, Lutz R.B., Neuhanser-Klaus A, Prescott A, et al. Three murine cataract mutants (Cat2) are defective in different gamma-crystallin genes. Genomics 1998;52:152-58.
    • (1998) Genomics , vol.52 , pp. 152-158
    • Klopp, N.1    Favor, J.2    Loster, J.3    Lutz, R.B.4    Neuhanser-Klaus, A.5    Prescott, A.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.