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Volumn 38, Issue 13, 1997, Pages 2750-2755

Localization of CSNBX (CSNB4) between the retinitis pigmentosa loci RP2 and RP3 on proximal Xp

Author keywords

Allelic; Haplotype analysis; Heterogeneity; Stationary night blindness; X linked congenital; X linked retinitis pigmentosa

Indexed keywords

ARTICLE; GENE LOCATION; GENE LOCUS; GENETIC HETEROGENEITY; GENETIC LINKAGE; GENETIC RECOMBINATION; HAPLOTYPE; HUMAN; HUMAN CELL; NIGHT BLINDNESS; PRIORITY JOURNAL; RETINITIS PIGMENTOSA; X CHROMOSOME LINKAGE;

EID: 0031442646     PISSN: 01460404     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (14)

References (39)
  • 2
    • 0025357734 scopus 로고
    • Mechanisms and sites of loss of scotopic sensitivity: A clinical analysis of congenital night blindness
    • Sharp D, Arden GB, Kemp CR, Hogg CR, Bird AC. Mechanisms and sites of loss of scotopic sensitivity: A clinical analysis of congenital night blindness. Clin Vision Sci. 1990;5:217-230.
    • (1990) Clin Vision Sci. , vol.5 , pp. 217-230
    • Sharp, D.1    Arden, G.B.2    Kemp, C.R.3    Hogg, C.R.4    Bird, A.C.5
  • 3
    • 0028125886 scopus 로고
    • Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness
    • Rao VR, Cohen GB, Oprain DD. Rhodopsin mutation G90D and a molecular mechanism for congenital night blindness. Nature. 1994; 367:639-642.
    • (1994) Nature , vol.367 , pp. 639-642
    • Rao, V.R.1    Cohen, G.B.2    Oprain, D.D.3
  • 4
    • 0025105161 scopus 로고
    • A point mutation of the rhodopsin gene in one form of retinitis pigmentosa
    • Dryja TP, McGee TL, Reichel E, et al. A point mutation of the rhodopsin gene in one form of retinitis pigmentosa. Nature. 1990;343:364-366.
    • (1990) Nature , vol.343 , pp. 364-366
    • Dryja, T.P.1    McGee, T.L.2    Reichel, E.3
  • 5
    • 0027248024 scopus 로고
    • Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness
    • Dryja TP, Berson EL, Rao VR, Oprain DD. Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness. Nat Genet. 1993;4:280-283.
    • (1993) Nat Genet. , vol.4 , pp. 280-283
    • Dryja, T.P.1    Berson, E.L.2    Rao, V.R.3    Oprain, D.D.4
  • 6
    • 0028128535 scopus 로고
    • Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness
    • Gal A, Orth U, Baehr W, Schwinger E, Rosenberg T. Heterozygous missense mutation in the rod cGMP phosphodiesterase beta-subunit gene in autosomal dominant stationary night blindness. Nat Genet. 1994; 7:64-68.
    • (1994) Nat Genet. , vol.7 , pp. 64-68
    • Gal, A.1    Orth, U.2    Baehr, W.3    Schwinger, E.4    Rosenberg, T.5
  • 7
    • 0027270053 scopus 로고
    • Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa
    • McLaughlin ME, Sandberg MA, Berson EL, Dryja TP. Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa. Nat Genet. 1994;4:130-134.
    • (1994) Nat Genet. , vol.4 , pp. 130-134
    • McLaughlin, M.E.1    Sandberg, M.A.2    Berson, E.L.3    Dryja, T.P.4
  • 8
    • 0024756571 scopus 로고
    • Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3
    • Mussarella MA, Weleber RG, Murphey WH, et al. Assignment of the gene for complete X-linked congenital stationary night blindness (CSNB1) to Xp11.3. Genomics. 1989;5:727-737.
    • (1989) Genomics , vol.5 , pp. 727-737
    • Mussarella, M.A.1    Weleber, R.G.2    Murphey, W.H.3
  • 9
    • 0024558243 scopus 로고
    • Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp
    • Gal A, Schinzel A, Orth U, et al. Gene of X-chromosomal congenital stationary night blindness is closely linked to DXS7 on Xp. Hum Genet. 1989;81:315-318.
    • (1989) Hum Genet. , vol.81 , pp. 315-318
    • Gal, A.1    Schinzel, A.2    Orth, U.3
  • 10
    • 0025272312 scopus 로고
    • A locus for X-linked congenital stationary night blindness is located on the proximal short arm of the X chromosome
    • Bech-Hansen NT, Field LL, Schramm AM, et al. A locus for X-linked congenital stationary night blindness is located on the proximal short arm of the X chromosome. Hum Genet. 1990;84:406-408.
    • (1990) Hum Genet. , vol.84 , pp. 406-408
    • Bech-Hansen, N.T.1    Field, L.L.2    Schramm, A.M.3
  • 11
    • 0021344697 scopus 로고
    • Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28
    • Bhattacharya SS, Wright AF, Clayton JF, et al. Close genetic linkage between X-linked retinitis pigmentosa and a restriction fragment length polymorphism identified by recombinant DNA probe L1.28. Nature. 1984; 309:253-255.
    • (1984) Nature , vol.309 , pp. 253-255
    • Bhattacharya, S.S.1    Wright, A.F.2    Clayton, J.F.3
  • 12
    • 0022868912 scopus 로고
    • Genetic linkage between X-linked retinitis pigmentosa and DNA probe DXS7 (L1.28): Further linkage data, heterogeneity testing, and risk estimation
    • Clayton JF, Wright AF, Jay M, et al. Genetic linkage between X-linked retinitis pigmentosa and DNA probe DXS7 (L1.28): Further linkage data, heterogeneity testing, and risk estimation. Hum Genet. 1986; 74: 168-171.
    • (1986) Hum Genet. , vol.74 , pp. 168-171
    • Clayton, J.F.1    Wright, A.F.2    Jay, M.3
  • 13
    • 0026639778 scopus 로고
    • Linkage analysis in X-linked congenital stationary night blindness
    • Aldred MA, Dry KL, Sharp DM, et al. Linkage analysis in X-linked congenital stationary night blindness. Genomics. 1992;714:99-104.
    • (1992) Genomics , vol.714 , pp. 99-104
    • Aldred, M.A.1    Dry, K.L.2    Sharp, D.M.3
  • 14
    • 0026511032 scopus 로고    scopus 로고
    • Mapping of locus for X-linked congenital stationary night blindness (CSNB1) proximal to DXS7
    • 992
    • Bech-Hansen NT, Moore BJ, Pearce WG. Mapping of locus for X-linked congenital stationary night blindness (CSNB1) proximal to DXS7. Genomics. 992;12: 409-411.
    • Genomics , vol.12 , pp. 409-411
    • Bech-Hansen, N.T.1    Moore, B.J.2    Pearce, W.G.3
  • 15
    • 0029841724 scopus 로고    scopus 로고
    • Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: A genetically defined 5 cM critical region and exclusion of candidate genes by physical mapping
    • Thiselton DL, Hampson RM, Nayudu M, et al. Mapping the RP2 locus for X-linked retinitis pigmentosa on proximal Xp: A genetically defined 5 cM critical region and exclusion of candidate genes by physical mapping. Genome Res. 1996;6:1093-1102.
    • (1996) Genome Res. , vol.6 , pp. 1093-1102
    • Thiselton, D.L.1    Hampson, R.M.2    Nayudu, M.3
  • 16
    • 0028242407 scopus 로고
    • Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB
    • Bergen AAB, Kestelyn PH, Leys M, Meire F. Identification of a key recombinant which assigns the incomplete congenital stationary night blindness gene proximal to MAOB. J Med Genet. 1994;31:580-582.
    • (1994) J Med Genet. , vol.31 , pp. 580-582
    • Bergen, A.A.B.1    Kestelyn, P.H.2    Leys, M.3    Meire, F.4
  • 17
    • 0025274526 scopus 로고
    • Variable expressivity in X-linked congenital stationary night blindness
    • Pearce WG, Reedyk M, Coupland SG. Variable expressivity in X-linked congenital stationary night blindness. Can J Ophthalmol. 1990;25:3-10.
    • (1990) Can J Ophthalmol. , vol.25 , pp. 3-10
    • Pearce, W.G.1    Reedyk, M.2    Coupland, S.G.3
  • 18
    • 0027474273 scopus 로고
    • Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: Demonstration of homozygosity
    • Bech-Hansen NT, Pearce WG. Manifestations of X-linked congenital stationary night blindness in three daughters of an affected male: Demonstration of homozygosity. Am J Hum Genet. 1993;52:71-77.
    • (1993) Am J Hum Genet. , vol.52 , pp. 71-77
    • Bech-Hansen, N.T.1    Pearce, W.G.2
  • 19
    • 0028236066 scopus 로고
    • A 1.8Mb YAC contig in Xp11.23: Identification of CpG islands and physical mapping of CA repeats in a region of high gene density
    • Coleman MP, Nemeth AH, Campbell L, Chandrajit PR, Weissenbach J, Davies KE. A 1.8Mb YAC contig in Xp11.23: Identification of CpG islands and physical mapping of CA repeats in a region of high gene density. Genomics. 1994;21:337-343.
    • (1994) Genomics , vol.21 , pp. 337-343
    • Coleman, M.P.1    Nemeth, A.H.2    Campbell, L.3    Chandrajit, P.R.4    Weissenbach, J.5    Davies, K.E.6
  • 20
    • 0028817495 scopus 로고
    • Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB)
    • Berger W, van Duijnhoven G, Pinckers A, Smits A, Ropers H-H, Cremers F. Linkage analysis in a Dutch family with X-linked recessive congenital stationary night blindness (XL-CSNB). Hum Genet. 1995;95:67-70.
    • (1995) Hum Genet. , vol.95 , pp. 67-70
    • Berger, W.1    Van Duijnhoven, G.2    Pinckers, A.3    Smits, A.4    Ropers, H.-H.5    Cremers, F.6
  • 21
    • 0029000026 scopus 로고
    • Localisation of a novel X-linked congenital stationary night blindness locus: Close linkage to the RP3 type retinitis pigmentosa gene region
    • Bergen AAB, Brink JB, Riemslag F, Schuurman EJM, Tijmes T. Localisation of a novel X-linked congenital stationary night blindness locus: Close linkage to the RP3 type retinitis pigmentosa gene region. Hum Mol Genet. 1995;4:931-935.
    • (1995) Hum Mol Genet. , vol.4 , pp. 931-935
    • Bergen, A.A.B.1    Brink, J.B.2    Riemslag, F.3    Schuurman, E.J.M.4    Tijmes, T.5
  • 23
    • 13344259999 scopus 로고    scopus 로고
    • A comprehensive genetic map of the human genome based on 5,264 microsatellites
    • Dib C, Faure S, Fizames C, et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature. 1996;380:152-154.
    • (1996) Nature , vol.380 , pp. 152-154
    • Dib, C.1    Faure, S.2    Fizames, C.3
  • 24
    • 0025940605 scopus 로고
    • Äland Island eye disease: Linkage data
    • Schwartzn M, Rosenberg T. Äland Island eye disease: Linkage data. Genomics. 1991;10:327-332.
    • (1991) Genomics , vol.10 , pp. 327-332
    • Schwartzn, M.1    Rosenberg, T.2
  • 25
    • 0026089211 scopus 로고
    • Localization of the Aland Island eye disease locus to the pericentric region of the human X chromosome by linkage analysis
    • Alitalo T, Kruse TA, Forsius H, Eriksson AW, de la Chapelle A. Localization of the Aland Island eye disease locus to the pericentric region of the human X chromosome by linkage analysis. Am J Hum Genet. 1991;48:31-38.
    • (1991) Am J Hum Genet. , vol.48 , pp. 31-38
    • Alitalo, T.1    Kruse, T.A.2    Forsius, H.3    Eriksson, A.W.4    De La Chapelle, A.5
  • 26
    • 0027482799 scopus 로고
    • Genetic mapping of a cone and rod dysfunction (AIED) to the proximal short arm of the human X chromosome
    • Glass IA, Good P, Coleman MP, et al. Genetic mapping of a cone and rod dysfunction (AIED) to the proximal short arm of the human X chromosome. J Med Genet. 1993;30:1044-1050.
    • (1993) J Med Genet. , vol.30 , pp. 1044-1050
    • Glass, I.A.1    Good, P.2    Coleman, M.P.3
  • 27
    • 15844378213 scopus 로고    scopus 로고
    • A gene (RPGR) with homology to the RCCI guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3)
    • Meindl A, Dry K, Herrmann K, et al. A gene (RPGR) with homology to the RCCI guanine nucleotide exchange factor is mutated in X-linked retinitis pigmentosa (RP3). Nat Genet. 1996;13:35-42.
    • (1996) Nat Genet. , vol.13 , pp. 35-42
    • Meindl, A.1    Dry, K.2    Herrmann, K.3
  • 28
    • 0029856584 scopus 로고    scopus 로고
    • Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1-p11.4
    • Bergen AAB, ten Brink JB, Riemslag F, et al. Conclusive evidence for a distinct congenital stationary night blindness locus in Xp21.1-p11.4. J Med Genet. 1996; 33:869-872.
    • (1996) J Med Genet. , vol.33 , pp. 869-872
    • Bergen, A.A.B.1    Ten Brink, J.B.2    Riemslag, F.3
  • 29
    • 4244154246 scopus 로고    scopus 로고
    • RPGR mutation analysis in patients with retinitis pigmentosa and congenital stationary night blindness
    • Herrmann K, Meindl A, Apfelstedt-Sylla E, et al. RPGR mutation analysis in patients with retinitis pigmentosa and congenital stationary night blindness. Am J Hum Genet. 1996;59:1518.
    • (1996) Am J Hum Genet. , vol.59 , pp. 1518
    • Herrmann, K.1    Meindl, A.2    Apfelstedt-Sylla, E.3
  • 30
    • 0027138447 scopus 로고
    • Additional evidence for a gene locus for progressive cone dystrophy with late rod involvement in Xp21.1-p11.3
    • Bergen AA, Meire F, ten Brink J, Schuurman EJ, van Ommen GJ, Delleman JW. Additional evidence for a gene locus for progressive cone dystrophy with late rod involvement in Xp21.1-p11.3. Genomics. 1993; 18:463-464.
    • (1993) Genomics , vol.18 , pp. 463-464
    • Bergen, A.A.1    Meire, F.2    Ten Brink, J.3    Schuurman, E.J.4    Van Ommen, G.J.5    Delleman, J.W.6
  • 31
    • 0028126874 scopus 로고
    • Clinical diversity and chromosomal localization of X-linked cone dystrophy (COD1)
    • Hong H-K, Ferrell RE, Gorin MB. Clinical diversity and chromosomal localization of X-linked cone dystrophy (COD1). Am J Hum Genet. 1994;55:1173-1181.
    • (1994) Am J Hum Genet. , vol.55 , pp. 1173-1181
    • Hong, H.-K.1    Ferrell, R.E.2    Gorin, M.B.3
  • 32
    • 84889219218 scopus 로고    scopus 로고
    • Localization of X-linked cone-rod dystrophy (COD-1) to a limited region of Xp11.4-p11.3 that encompasses the RP2 locus
    • Dash-Modi A, Seymour AB, Stefco T. Localization of X-linked cone-rod dystrophy (COD-1) to a limited region of Xp11.4-p11.3 that encompasses the RP2 locus. Invest Ophthalmol Vis Sci. 1996;31:4582.
    • (1996) Invest Ophthalmol Vis Sci. , vol.31 , pp. 4582
    • Dash-Modi, A.1    Seymour, A.B.2    Stefco, T.3
  • 33
    • 0027998708 scopus 로고
    • Heterogeneity analysis in 40 X-linked retinitis pigmentosa families
    • Teague PW, Aldred MA, Jay M, et al. Heterogeneity analysis in 40 X-linked retinitis pigmentosa families. Am J Hum Genet. 1994;55:105-111.
    • (1994) Am J Hum Genet. , vol.55 , pp. 105-111
    • Teague, P.W.1    Aldred, M.A.2    Jay, M.3
  • 34
    • 8944241311 scopus 로고    scopus 로고
    • Positional cloning of the gene for X-linked retinitis pigmentosa 3: Homology with the guanine-nucleotide-exchange factor RCC1
    • Roepman R, van Dujnhoven G, Rosenberg T, et al. Positional cloning of the gene for X-linked retinitis pigmentosa 3: Homology with the guanine-nucleotide-exchange factor RCC1. Hum Mol Genet. 1996;5:1043-1046.
    • (1996) Hum Mol Genet. , vol.5 , pp. 1043-1046
    • Roepman, R.1    Van Dujnhoven, G.2    Rosenberg, T.3
  • 35
    • 0029020995 scopus 로고
    • X-linked dominant conerod degeneration: Linkage mapping of a new locus for retinitis pigmentosa (RP15) to Xp22.13-p22.11
    • McGuire RE, Sullivan LS, Blanton SH, Church MW, Heckenlively JR, Daiger SP. X-linked dominant conerod degeneration: Linkage mapping of a new locus for retinitis pigmentosa (RP15) to Xp22.13-p22.11. Am J Hum Genet. 1995;57:87-94.
    • (1995) Am J Hum Genet. , vol.57 , pp. 87-94
    • McGuire, R.E.1    Sullivan, L.S.2    Blanton, S.H.3    Church, M.W.4    Heckenlively, J.R.5    Daiger, S.P.6
  • 36
    • 0025190712 scopus 로고
    • Localizing multiple X chromosome-linked retinitis pigmentosa loci using multiple homogeneity tests
    • Ott J, Bhattacharya S, Chen JD, et al. Localizing multiple X chromosome-linked retinitis pigmentosa loci using multiple homogeneity tests. Proc Natl Acad Sci U S A. 1990;87:701-704.
    • (1990) Proc Natl Acad Sci U S A , vol.87 , pp. 701-704
    • Ott, J.1    Bhattacharya, S.2    Chen, J.D.3
  • 38
    • 0026935145 scopus 로고
    • Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins
    • Meindl A, W Berger, T Meitinger, et al. Norrie disease is caused by mutations in an extracellular protein resembling C-terminal globular domain of mucins. Nat Genet. 1993;2:139-143.
    • (1993) Nat Genet. , vol.2 , pp. 139-143
    • Meindl, A.1    Berger, W.2    Meitinger, T.3
  • 39
    • 0027367772 scopus 로고
    • A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy
    • Chen ZY, Battinelli EM, Fielder A, et al. A mutation in the Norrie disease gene (NDP) associated with X-linked familial exudative vitreoretinopathy. Nat Genet. 1993;5:180-183.
    • (1993) Nat Genet. , vol.5 , pp. 180-183
    • Chen, Z.Y.1    Battinelli, E.M.2    Fielder, A.3


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