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Volumn 52, Issue 9, 2011, Pages 6814-6819

Refinement of the X-linked Nonsyndromic High-Grade Myopia Locus MYP1 on Xq28 and Exclusion of 13 Known Positional Candidate Genes by Direct Sequencing

(16)  Ratnamala, Uppala a   Lyle, Robert b   Rawal, Rakesh c   Singh, Raminder d   Vishnupriya, Satti e   Himabindu, Pamini e   Rao, Vittal f   Aggarwal, Somesh g   Paluru, Prasuna h   Bartoloni, Lucia i,j   Young, Terri L k,l   Giacobino, Ariane Paoloni j   Morris, Michael A j   Nath, Swapan K m   Antonarakis, Stylianos E j   Radhakrishna, Uppala j  


Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; DXS1073 GENE; DXYS154 GENE; EXON; EYE EXAMINATION; FEMALE; GENE; GENE LOCUS; GENE MUTATION; GENETIC ASSOCIATION; GENETIC RECOMBINATION; GENOTYPE; HIGH MYOPIA; HUMAN; HUMAN TISSUE; LINKAGE ANALYSIS; MALE; PEDIGREE ANALYSIS; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; X CHROMOSOME; X CHROMOSOME RECESSIVE DISORDER; ASIAN; CHILD; CHROMOSOME MAP; COMPARATIVE STUDY; DOMINANT GENE; GENETIC LINKAGE; GENETICS; HAPLOTYPE; INDIA; METHODOLOGY; MYOPIA; NUCLEOTIDE SEQUENCE; PEDIGREE; PRESCHOOL CHILD; X CHROMOSOME LINKED DISORDER;

EID: 80055069399     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.10-6815     Document Type: Article
Times cited : (22)

References (54)
  • 2
    • 0037129621 scopus 로고    scopus 로고
    • Myopia
    • Fredrick DR. Myopia. BMJ. 2002;324:1195-1199.
    • (2002) BMJ. , vol.324 , pp. 1195-1199
    • Fredrick, D.R.1
  • 4
    • 0034624864 scopus 로고    scopus 로고
    • Myopia and ambient night-time lighting. CLEERE Study Group. Collaborative Longitudinal Evaluation of Ethnicity and Refractive Error
    • Zadnik K, Jones LA, Irvin BC, et al. Myopia and ambient night-time lighting. CLEERE Study Group. Collaborative Longitudinal Evaluation of Ethnicity and Refractive Error. Nature. 2000;404:143-144.
    • (2000) Nature. , vol.404 , pp. 143-144
    • Zadnik, K.1    Jones, L.A.2    Irvin, B.C.3
  • 5
    • 0031053057 scopus 로고    scopus 로고
    • A longitudinal investigation of adultonset and adult-progression of myopia in an occupational group: Refractive and biometric findings
    • McBrien NA, Adams DW. A longitudinal investigation of adultonset and adult-progression of myopia in an occupational group: refractive and biometric findings. Invest Ophthalmol Vis Sci. 1997; 38:321-333.
    • (1997) Invest Ophthalmol Vis Sci. , vol.38 , pp. 321-333
    • McBrien, N.A.1    Adams, D.W.2
  • 6
    • 0026772882 scopus 로고
    • Prevalence of myopia and myopic progression in a population of clinical microscopists
    • Adams DW, McBrien NA. Prevalence of myopia and myopic progression in a population of clinical microscopists. Optom Vis Sci. 1992;69:467-473.
    • (1992) Optom Vis Sci. , vol.69 , pp. 467-473
    • Adams, D.W.1    McBrien, N.A.2
  • 7
    • 1842530292 scopus 로고    scopus 로고
    • The prevalence of refractive errors among adults in the United States, Western Europe, and Australia
    • Kempen JH, Mitchell P, Lee KE, et al. The prevalence of refractive errors among adults in the United States, Western Europe, and Australia. Arch Ophthalmol. 2004;122:495-505.
    • (2004) Arch Ophthalmol. , vol.122 , pp. 495-505
    • Kempen, J.H.1    Mitchell, P.2    Lee, K.E.3
  • 8
    • 0033867142 scopus 로고    scopus 로고
    • Prevalence and risk factors for refractive errors in adult Chinese in Singapore
    • Wong TY, Foster PJ, Hee J, et al. Prevalence and risk factors for refractive errors in adult Chinese in Singapore. Invest Ophthalmol Vis Sci. 2000;41:2486-2494.
    • (2000) Invest Ophthalmol Vis Sci. , vol.41 , pp. 2486-2494
    • Wong, T.Y.1    Foster, P.J.2    Hee, J.3
  • 9
    • 0025095962 scopus 로고
    • X-linked myopia: Bornholm eye disease: Linkage to DNA markers on the distal part of Xq
    • Schwartz M, Haim M, Skarsholm D. X-linked myopia: Bornholm eye disease: linkage to DNA markers on the distal part of Xq. Clin Genet. 1990;38:281-286.
    • (1990) Clin Genet. , vol.38 , pp. 281-286
    • Schwartz, M.1    Haim, M.2    Skarsholm, D.3
  • 10
    • 33745905223 scopus 로고    scopus 로고
    • Novel locus for X linked recessive high myopia maps to Xq23-q25 but outside MYP1
    • Zhang Q, Guo X, Xiao X, Jia X, Li S, Hejtmancik JF. Novel locus for X linked recessive high myopia maps to Xq23-q25 but outside MYP1. J Med Genet. 2006;43:e20.
    • (2006) J Med Genet. , vol.43
    • Zhang, Q.1    Guo, X.2    Xiao, X.3    Jia, X.4    Li, S.5    Hejtmancik, J.F.6
  • 13
    • 2942534721 scopus 로고    scopus 로고
    • X-linked high myopia associated with cone dysfunction
    • Young TL, Deeb SS, Ronan SM, et al. X-linked high myopia associated with cone dysfunction. Arch Ophthalmol. 2004;122:897-908.
    • (2004) Arch Ophthalmol. , vol.122 , pp. 897-908
    • Young, T.L.1    Deeb, S.S.2    Ronan, S.M.3
  • 14
    • 0032231942 scopus 로고    scopus 로고
    • Evidence that a locus for familial high myopia maps to chromosome 18p
    • Young TL, Ronan SM, Drahozal LA, et al. Evidence that a locus for familial high myopia maps to chromosome 18p. Am J Hum Genet. 1998;63:109-119.
    • (1998) Am J Hum Genet. , vol.63 , pp. 109-119
    • Young, T.L.1    Ronan, S.M.2    Drahozal, L.A.3
  • 15
    • 0032231298 scopus 로고    scopus 로고
    • A second locus for familial high myopia maps to chromosome 12q
    • Young TL, Ronan SM, Alvear AB, et al. A second locus for familial high myopia maps to chromosome 12q. Am J Hum Genet. 1998; 63:1419-1424.
    • (1998) Am J Hum Genet. , vol.63 , pp. 1419-1424
    • Young, T.L.1    Ronan, S.M.2    Alvear, A.B.3
  • 16
    • 0242500304 scopus 로고    scopus 로고
    • New locus for autosomal dominant high myopia maps to the long arm of chromosome 17
    • Paluru P, Ronan SM, Heon E, et al. New locus for autosomal dominant high myopia maps to the long arm of chromosome 17. Invest Ophthalmol Vis Sci. 2003;44:1830-1836.
    • (2003) Invest Ophthalmol Vis Sci. , vol.44 , pp. 1830-1836
    • Paluru, P.1    Ronan, S.M.2    Heon, E.3
  • 17
    • 4143102458 scopus 로고    scopus 로고
    • Genomewide linkage scan for myopia susceptibility loci among Ashkenazi Jewish families shows evidence of linkage on chromosome 22q12
    • Stambolian D, Ibay G, Reider L, et al. Genomewide linkage scan for myopia susceptibility loci among Ashkenazi Jewish families shows evidence of linkage on chromosome 22q12. Am J Hum Genet. 2004;75:448-459.
    • (2004) Am J Hum Genet. , vol.75 , pp. 448-459
    • Stambolian, D.1    Ibay, G.2    Reider, L.3
  • 18
    • 3242656225 scopus 로고    scopus 로고
    • A susceptibility locus for myopia in the normal population is linked to the PAX6 gene region on chromosome 11: A genomewide scan of dizygotic twins
    • Hammond CJ, Andrew T, Mak YT, Spector TD. A susceptibility locus for myopia in the normal population is linked to the PAX6 gene region on chromosome 11: a genomewide scan of dizygotic twins. Am J Hum Genet. 2004;75:294-304.
    • (2004) Am J Hum Genet. , vol.75 , pp. 294-304
    • Hammond, C.J.1    Andrew, T.2    Mak, Y.T.3    Spector, T.D.4
  • 19
    • 26244468175 scopus 로고    scopus 로고
    • A new locus for autosomal dominant high myopia maps to 4q22-q27 between D4S1578 and D4S1612
    • Zhang Q, Guo X, Xiao X, Jia X, Li S, Hejtmancik JF. A new locus for autosomal dominant high myopia maps to 4q22-q27 between D4S1578 and D4S1612. Mol Vis. 2005;11:554-560.
    • (2005) Mol Vis. , vol.11 , pp. 554-560
    • Zhang, Q.1    Guo, X.2    Xiao, X.3    Jia, X.4    Li, S.5    Hejtmancik, J.F.6
  • 21
    • 33645745403 scopus 로고    scopus 로고
    • Genomewide scan in Ashkenazi Jewish families demonstrates evidence of linkage of ocular refraction to a QTL on chromosome 1p36
    • Wojciechowski R, Moy C, Ciner E, et al. Genomewide scan in Ashkenazi Jewish families demonstrates evidence of linkage of ocular refraction to a QTL on chromosome 1p36. Hum Genet. 2006;119:389-399.
    • (2006) Hum Genet. , vol.119 , pp. 389-399
    • Wojciechowski, R.1    Moy, C.2    Ciner, E.3
  • 22
    • 33847205760 scopus 로고    scopus 로고
    • Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota
    • Nallasamy S, Paluru PC, Devoto M, Wasserman NF, Zhou J, Young TL. Genetic linkage study of high-grade myopia in a Hutterite population from South Dakota. Mol Vis. 2007;13:229-236.
    • (2007) Mol Vis. , vol.13 , pp. 229-236
    • Nallasamy, S.1    Paluru, P.C.2    Devoto, M.3    Wasserman, N.F.4    Zhou, J.5    Young, T.L.6
  • 23
    • 53149130971 scopus 로고    scopus 로고
    • A genome-wide scan maps a novel high myopia locus to 5p15
    • Lam CY, Tam PO, Fan DS, et al. A genome-wide scan maps a novel high myopia locus to 5p15. Invest Ophthalmol Vis Sci. 2008;49: 3768-3778.
    • (2008) Invest Ophthalmol Vis Sci. , vol.49 , pp. 3768-3778
    • Lam, C.Y.1    Tam, P.O.2    Fan, D.S.3
  • 24
    • 48949118879 scopus 로고    scopus 로고
    • Genomewide scan of ocular refraction in African-American families shows significant linkage to chromosome 7p15
    • Ciner E, Wojciechowski R, Ibay G, Bailey-Wilson JE, Stambolian D. Genomewide scan of ocular refraction in African-American families shows significant linkage to chromosome 7p15. Genet Epidemiol. 2008;32:454-463.
    • (2008) Genet Epidemiol. , vol.32 , pp. 454-463
    • Ciner, E.1    Wojciechowski, R.2    Ibay, G.3    Bailey-Wilson, J.E.4    Stambolian, D.5
  • 25
    • 60849123142 scopus 로고    scopus 로고
    • Clinical and linkage study on a consanguineous Chinese family with autosomal recessive high myopia
    • Yang Z, Xiao X, Li S, Zhang Q. Clinical and linkage study on a consanguineous Chinese family with autosomal recessive high myopia. Mol Vis. 2009;15:312-318.
    • (2009) Mol Vis. , vol.15 , pp. 312-318
    • Yang, Z.1    Xiao, X.2    Li, S.3    Zhang, Q.4
  • 26
    • 77957557992 scopus 로고    scopus 로고
    • A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25
    • Hysi PG, Young TL, Mackey DA, et al. A genome-wide association study for myopia and refractive error identifies a susceptibility locus at 15q25. Nat Genet. 2010;42:902-905.
    • (2010) Nat Genet. , vol.42 , pp. 902-905
    • Hysi, P.G.1    Young, T.L.2    Mackey, D.A.3
  • 27
    • 77957567357 scopus 로고    scopus 로고
    • A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14
    • Solouki AM, Verhoeven VJ, van Duijn CM, et al. A genome-wide association study identifies a susceptibility locus for refractive errors and myopia at 15q14. Nat Genet. 2010;42:897-901.
    • (2010) Nat Genet. , vol.42 , pp. 897-901
    • Solouki, A.M.1    Verhoeven, V.J.2    van Duijn, C.M.3
  • 28
    • 70349667197 scopus 로고    scopus 로고
    • A genome-wide association analysis identified a novel susceptible locus for pathological myopia at 11q24.1
    • Nakanishi H, Yamada R, Gotoh N, et al. A genome-wide association analysis identified a novel susceptible locus for pathological myopia at 11q24.1. PLoS Genet. 2009;5:e1000660.
    • (2009) PLoS Genet. , vol.5
    • Nakanishi, H.1    Yamada, R.2    Gotoh, N.3
  • 29
    • 77957335296 scopus 로고    scopus 로고
    • Single-nucleotide polymorphisms in the promoter region of matrix metalloproteinase-1,-2, and-3 in Japanese with high myopia
    • Nakanishi H, Hayashi H, Yamada R, et al. Single-nucleotide polymorphisms in the promoter region of matrix metalloproteinase-1,-2, and-3 in Japanese with high myopia. Invest Ophthalmol Vis Sci. 2010;51:4432-4436.
    • (2010) Invest Ophthalmol Vis Sci. , vol.51 , pp. 4432-4436
    • Nakanishi, H.1    Hayashi, H.2    Yamada, R.3
  • 30
    • 77957326959 scopus 로고    scopus 로고
    • Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohort
    • Metlapally R, Ki CS, Li YJ, et al. Genetic association of insulin-like growth factor-1 polymorphisms with high-grade myopia in an international family cohort. Invest Ophthalmol Vis Sci. 2010;51: 4476-4479.
    • (2010) Invest Ophthalmol Vis Sci. , vol.51 , pp. 4476-4479
    • Metlapally, R.1    Ki, C.S.2    Li, Y.J.3
  • 32
    • 0023845326 scopus 로고
    • X-linked congenital stationary night blindness with myopia and nystagmus without clinical complaints of nyctalopia
    • Price MJ, Judisch GF, Thompson HS. X-linked congenital stationary night blindness with myopia and nystagmus without clinical complaints of nyctalopia. J Pediatr Ophthalmol Strabismus. 1988;25: 33-36.
    • (1988) J Pediatr Ophthalmol Strabismus. , vol.25 , pp. 33-36
    • Price, M.J.1    Judisch, G.F.2    Thompson, H.S.3
  • 33
    • 0033757466 scopus 로고    scopus 로고
    • Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness
    • Bech-Hansen NT, Naylor MJ, Maybaum TA, et al. Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness. Nat Genet. 2000; 26:319-323.
    • (2000) Nat Genet. , vol.26 , pp. 319-323
    • Bech-Hansen, N.T.1    Naylor, M.J.2    Maybaum, T.A.3
  • 34
    • 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
  • 35
    • 0025358232 scopus 로고
    • X-chromosomal hereditary night blindness: Detection of carriers by segregation analysis with linked DNA markers (in German)
    • Orth U, Schinzel A, Machler M, Gal A. X-chromosomal hereditary night blindness: detection of carriers by segregation analysis with linked DNA markers (in German). Klin Monatsbl Augenheilkd. 1990;196:269-272.
    • (1990) Klin Monatsbl Augenheilkd. , vol.196 , pp. 269-272
    • Orth, U.1    Schinzel, A.2    Machler, M.3    Gal, A.4
  • 36
    • 0027482799 scopus 로고
    • Genetic mapping of a cone and rod dysfunction (Aland Island eye disease) 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 (Aland Island eye disease) 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
  • 37
    • 2942582934 scopus 로고
    • A new eye syndrome with X-chromosomal transmission: A family clan with fundus albinism, fovea hypoplasia, nystagmus, myopia, astigmatism and dyschromatopsia (in German)
    • Forsius H, Eriksson AW. A new eye syndrome with X-chromosomal transmission: a family clan with fundus albinism, fovea hypoplasia, nystagmus, myopia, astigmatism and dyschromatopsia (in German). Klin Monatsbl Augenheilkd. 1964;144:447-457.
    • (1964) Klin Monatsbl Augenheilkd. , vol.144 , pp. 447-457
    • Forsius, H.1    Eriksson, A.W.2
  • 38
    • 0026089211 scopus 로고
    • Localization of the Aland Island eye disease locus to the pericentromeric region of the 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 pericentromeric region of the 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
  • 39
  • 40
    • 0023269004 scopus 로고
    • Mapping X-linked ophthalmic diseases. III. Provisional assignment of the locus for blue cone monochromacy to Xq28
    • Lewis RA, Holcomb JD, Bromley WC, Wilson MC, Roderick TH, Hejtmancik JF. Mapping X-linked ophthalmic diseases. III. Provisional assignment of the locus for blue cone monochromacy to Xq28. Arch Ophthalmol. 1987;105:1055-1059.
    • (1987) Arch Ophthalmol. , vol.105 , pp. 1055-1059
    • Lewis, R.A.1    Holcomb, J.D.2    Bromley, W.C.3    Wilson, M.C.4    Roderick, T.H.5    Hejtmancik, J.F.6
  • 41
    • 0010809025 scopus 로고
    • Hereditary myopia
    • Wold KC. Hereditary myopia. Arch Ophthalmol. 1949;42:225-237.
    • (1949) Arch Ophthalmol. , vol.42 , pp. 225-237
    • Wold, K.C.1
  • 43
    • 0028231090 scopus 로고
    • The 1993-94 Genethon human genetic linkage map
    • Gyapay G, Morissette J, Vignal A, et al. The 1993-94 Genethon human genetic linkage map. Nat Genet. 1994;7:246-339.
    • (1994) Nat Genet. , vol.7 , pp. 246-339
    • Gyapay, G.1    Morissette, J.2    Vignal, A.3
  • 44
    • 0028365909 scopus 로고
    • Integrated human genome-wide maps constructed using the CEPH reference panel
    • Buetow KH, Weber JL, Ludwigsen S, et al. Integrated human genome-wide maps constructed using the CEPH reference panel. Nat Genet. 1994;6:391-393.
    • (1994) Nat Genet. , vol.6 , pp. 391-393
    • Buetow, K.H.1    Weber, J.L.2    Ludwigsen, S.3
  • 45
    • 0031018457 scopus 로고    scopus 로고
    • Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis
    • Radhakrishna U, Blouin JL, Mehenni H, et al. Mapping one form of autosomal dominant postaxial polydactyly type A to chromosome 7p15-q11.23 by linkage analysis. Am J Hum Genet. 1997;60:597-604.
    • (1997) Am J Hum Genet. , vol.60 , pp. 597-604
    • Radhakrishna, U.1    Blouin, J.L.2    Mehenni, H.3
  • 48
    • 0022453710 scopus 로고
    • Y-linkage and pseudoautosomal linkage
    • Ott J. Y-linkage and pseudoautosomal linkage. Am J Hum Genet. 1986;38:891-897.
    • (1986) Am J Hum Genet. , vol.38 , pp. 891-897
    • Ott, J.1
  • 49
    • 0029912523 scopus 로고    scopus 로고
    • The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28
    • Auricchio A, Brancolini V, Casari G, et al. The locus for a novel syndromic form of neuronal intestinal pseudoobstruction maps to Xq28. Am J Hum Genet. 1996;58:743-748.
    • (1996) Am J Hum Genet. , vol.58 , pp. 743-748
    • Auricchio, A.1    Brancolini, V.2    Casari, G.3
  • 50
    • 0036171161 scopus 로고    scopus 로고
    • A genome wide scan for familial high myopia suggests a novel locus on chromosome 7q36
    • Naiglin L, Gazagne C, Dallongeville F, et al. A genome wide scan for familial high myopia suggests a novel locus on chromosome 7q36. J Med Genet. 2002;39:118-124.
    • (2002) J Med Genet. , vol.39 , pp. 118-124
    • Naiglin, L.1    Gazagne, C.2    Dallongeville, F.3
  • 52
    • 0037313924 scopus 로고    scopus 로고
    • Complex events in the evolution of the human pseudoautosomal region 2 (PAR2)
    • Charchar FJ, Svartman M, El-Mogharbel N, et al. Complex events in the evolution of the human pseudoautosomal region 2 (PAR2). Genome Res. 2003;13:281-286.
    • (2003) Genome Res. , vol.13 , pp. 281-286
    • Charchar, F.J.1    Svartman, M.2    El-Mogharbel, N.3
  • 53
    • 18544408206 scopus 로고    scopus 로고
    • Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region
    • Ciccodicola A, D'Esposito M, Esposito T, et al. Differentially regulated and evolved genes in the fully sequenced Xq/Yq pseudoautosomal region. Hum Mol Genet. 2000;9:395-401.
    • (2000) Hum Mol Genet. , vol.9 , pp. 395-401
    • Ciccodicola, A.1    D'Esposito, M.2    Esposito, T.3
  • 54
    • 0032709151 scopus 로고    scopus 로고
    • Human and mouse SYBL1 gene structure and expression
    • Matarazzo MR, Cuccurese M, Strazzullo M, et al. Human and mouse SYBL1 gene structure and expression. Gene. 1999;240:233-238.
    • (1999) Gene. , vol.240 , pp. 233-238
    • Matarazzo, M.R.1    Cuccurese, M.2    Strazzullo, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.