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Volumn 51, Issue 7, 2010, Pages 3354-3361

Alterations of the 5'untranslated region of SLC16A12 lead to age-related cataract

Author keywords

[No Author keywords available]

Indexed keywords

ADENINE; GUANINE; LUCIFERASE; MONOCARBOXYLATE TRANSPORTER; SLC16A12; UNCLASSIFIED DRUG; PRIMER DNA; SLC16A12 PROTEIN, HUMAN;

EID: 77955888546     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.10-5193     Document Type: Article
Times cited : (42)

References (45)
  • 1
    • 0035088540 scopus 로고    scopus 로고
    • Cataract blindness-challenges for the 21st century
    • Brian G, Taylor H. Cataract blindness-challenges for the 21st century. Bull World Health Organ. 2001;79:249-256.
    • (2001) Bull World Health Organ , vol.79 , pp. 249-256
    • Brian, G.1    Taylor, H.2
  • 2
    • 0142088514 scopus 로고    scopus 로고
    • Important causes of visual impairment in the world today
    • Congdon NG, Friedman DS, Lietman T. Important causes of visual impairment in the world today. JAMA. 2003;290:2057-2060.
    • (2003) JAMA , vol.290 , pp. 2057-2060
    • Congdon, N.G.1    Friedman, D.S.2    Lietman, T.3
  • 5
    • 34548206366 scopus 로고    scopus 로고
    • CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q
    • Shiels A, Bennett TM, Knopf HL, et al. CHMP4B, a novel gene for autosomal dominant cataracts linked to chromosome 20q. Am J Hum Genet. 2007;81:596-606.
    • (2007) Am J Hum Genet , vol.81 , pp. 596-606
    • Shiels, A.1    Bennett, T.M.2    Knopf, H.L.3
  • 6
    • 41149175217 scopus 로고    scopus 로고
    • Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucos-uria
    • Kloeckener-Gruissem B, Vandekerckhove K, Nurnberg G, et al. Mutation of solute carrier SLC16A12 associates with a syndrome combining juvenile cataract with microcornea and renal glucos-uria. Am J Hum Genet. 2008;82:772-779
    • (2008) Am J Hum Genet , vol.82 , pp. 772-779
    • Kloeckener-Gruissem, B.1    Vandekerckhove, K.2    Nurnberg, G.3
  • 7
    • 34948856381 scopus 로고    scopus 로고
    • Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation
    • Jamieson RV, Farrar N, Stewart K, et al. Characterization of a familial t(16;22) balanced translocation associated with congenital cataract leads to identification of a novel gene, TMEM114, expressed in the lens and disrupted by the translocation. Hum Mutat. 2007;28:968-977.
    • (2007) Hum Mutat , vol.28 , pp. 968-977
    • Jamieson, R.V.1    Farrar, N.2    Stewart, K.3
  • 8
    • 0033824238 scopus 로고    scopus 로고
    • Age-related nuclear cataract: A lens transport problem
    • Truscott RJ. Age-related nuclear cataract: a lens transport problem. Ophthalmic Res. 2000;32:185-194.
    • (2000) Ophthalmic Res , vol.32 , pp. 185-194
    • Truscott, R.J.1
  • 10
    • 34249013395 scopus 로고    scopus 로고
    • Glutathione-S-transferase M1 and T1 genetic polymorphisms and the risk of cataract development: A study in the Turkish population
    • Guven M, Unal M, Sarici A, Ozaydin A, Batar B, Devranoglu K. Glutathione-S-transferase M1 and T1 genetic polymorphisms and the risk of cataract development: a study in the Turkish population. Curr Eye Res. 2007;32:447-454.
    • (2007) Curr Eye Res , vol.32 , pp. 447-454
    • Guven, M.1    Unal, M.2    Sarici, A.3    Ozaydin, A.4    Batar, B.5    Devranoglu, K.6
  • 11
    • 0033922740 scopus 로고    scopus 로고
    • Polymorphic glutathione S-transferases as genetic risk factors for senile cortical cataract in Estonians
    • Juronen E, Tasa G, Veromann S, et al. Polymorphic glutathione S-transferases as genetic risk factors for senile cortical cataract in Estonians. Invest Ophthalmol Vis Sci. 2000;41:2262-2267.
    • (2000) Invest Ophthalmol Vis Sci , vol.41 , pp. 2262-2267
    • Juronen, E.1    Tasa, G.2    Veromann, S.3
  • 12
    • 31544465501 scopus 로고    scopus 로고
    • N-acetyltransferase 2 pheno-type may be associated with susceptibility to age-related cataract
    • Tamer L, Yilmaz A, Yildirim H, et al. N-acetyltransferase 2 pheno-type may be associated with susceptibility to age-related cataract. Curr Eye Res. 2005;30:835-839
    • (2005) Curr Eye Res , vol.30 , pp. 835-839
    • Tamer, L.1    Yilmaz, A.2    Yildirim, H.3
  • 13
    • 56149112904 scopus 로고    scopus 로고
    • The EPHA2 gene is associated with cataracts linked to chromosome 1p
    • Shiels A, Bennett TM, Knopf HL, et al. The EPHA2 gene is associated with cataracts linked to chromosome 1p. Mol Vis. 2008;14: 2042-2055.
    • (2008) Mol Vis , vol.14 , pp. 2042-2055
    • Shiels, A.1    Bennett, T.M.2    Knopf, H.L.3
  • 14
    • 70349384227 scopus 로고    scopus 로고
    • A novel mutation (F71L) in aA-crystallin with defective chaperone-like function associated with age-related cataract
    • Bhagyalaxmi SG, Srinivas P, Barton KA, et al. A novel mutation (F71L) in aA-crystallin with defective chaperone-like function associated with age-related cataract. Biochim Biophys Acta. 2009; 1792:974-981.
    • (2009) Biochim Biophys Acta , vol.1792 , pp. 974-981
    • Bhagyalaxmi, S.G.1    Srinivas, P.2    Barton, K.A.3
  • 15
    • 0142119357 scopus 로고    scopus 로고
    • Galactokinase gene mutations and age-related cataract: Lack of association in an Italian population
    • Maraini G, Hejtmancik JF, Shiels A, et al. Galactokinase gene mutations and age-related cataract: lack of association in an Italian population. Mol Vis. 2003;9:397-400.
    • (2003) Mol Vis , vol.9 , pp. 397-400
    • Maraini, G.1    Hejtmancik, J.F.2    Shiels, A.3
  • 16
    • 0035071070 scopus 로고    scopus 로고
    • A genetic factor for age-related cataract: Identification and characterization of a novel galactokinase variant, 'Osaka,' in Asians
    • Okano Y, Asada M, Fujimoto A, et al. A genetic factor for age-related cataract: identification and characterization of a novel galactokinase variant, 'Osaka,' in Asians. Am J Hum Genet. 2001;68: 1036-1042.
    • (2001) Am J Hum Genet , vol.68 , pp. 1036-1042
    • Okano, Y.1    Asada, M.2    Fujimoto, A.3
  • 17
    • 9344271117 scopus 로고    scopus 로고
    • Glutathione S-transferase M1 genotype and age-related cataracts: Lack of association in an Italian population
    • Alberti G, Oguni M, Podgor M, et al. Glutathione S-transferase M1 genotype and age-related cataracts: lack of association in an Italian population. Invest Ophthalmol Vis Sci. 1996;37:1167-1173
    • (1996) Invest Ophthalmol Vis Sci , vol.37 , pp. 1167-1173
    • Alberti, G.1    Oguni, M.2    Podgor, M.3
  • 18
    • 55349108925 scopus 로고    scopus 로고
    • Mutation screening of HSF4 in 150 age-related cataract patients
    • Shi Y, Shi X, Jin Y, et al. Mutation screening of HSF4 in 150 age-related cataract patients. Mol Vis. 2008;14:1850-1855
    • (2008) Mol Vis , vol.14 , pp. 1850-1855
    • Shi, Y.1    Shi, X.2    Jin, Y.3
  • 19
    • 67649992702 scopus 로고    scopus 로고
    • Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract
    • Hansen L, Mikkelsen A, Nurnberg P, et al. Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract. Invest Ophthalmol Vis Sci. 2009;50:3291-3303.
    • (2009) Invest Ophthalmol Vis Sci , vol.50 , pp. 3291-3303
    • Hansen, L.1    Mikkelsen, A.2    Nurnberg, P.3
  • 20
    • 0036256255 scopus 로고    scopus 로고
    • In sickness and in health: The importance of transla-tional regulation
    • Reynolds PR. In sickness and in health: the importance of transla-tional regulation. Arch Dis Child. 2002;86:322-324.
    • (2002) Arch Dis Child , vol.86 , pp. 322-324
    • Reynolds, P.R.1
  • 21
    • 34548052424 scopus 로고    scopus 로고
    • Translation matters: Protein synthesis defects in inherited disease
    • Scheper GC, van der Knaap MS, Proud CG. Translation matters: protein synthesis defects in inherited disease. Nat Rev Genet. 2007;8:711-723.
    • (2007) Nat Rev Genet , vol.8 , pp. 711-723
    • Scheper, G.C.1    van der Knaap, M.S.2    Proud, C.G.3
  • 22
    • 64749099749 scopus 로고    scopus 로고
    • Role of 5'- and 3'-untranslated regions of mRNAs in human diseases
    • Chatterjee S, Pal JK. Role of 5'- and 3'-untranslated regions of mRNAs in human diseases. Biol Cell. 2009;101:251-262.
    • (2009) Biol Cell , vol.101 , pp. 251-262
    • Chatterjee, S.1    Pal, J.K.2
  • 23
    • 0034210637 scopus 로고    scopus 로고
    • Translational pathophysiology: A novel molecular mechanism of human disease
    • Cazzola M, Skoda RC. Translational pathophysiology: a novel molecular mechanism of human disease. Blood. 2000;95:3280-3288.
    • (2000) Blood , vol.95 , pp. 3280-3288
    • Cazzola, M.1    Skoda, R.C.2
  • 24
    • 69549135233 scopus 로고    scopus 로고
    • Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes
    • Magyar I, Colman D, Arnold E, et al. Quantitative sequence analysis of FBN1 premature termination codons provides evidence for incomplete NMD in leukocytes. Hum Mutat. 2009;30:1355-1364.
    • (2009) Hum Mutat , vol.30 , pp. 1355-1364
    • Magyar, I.1    Colman, D.2    Arnold, E.3
  • 26
    • 33747891736 scopus 로고    scopus 로고
    • An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers
    • Smith PJ, Zhang C, Wang J, Chew SL, Zhang MQ, Krainer AR. An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers. Hum Mol Genet. 2006;15: 2490-2508.
    • (2006) Hum Mol Genet , vol.15 , pp. 2490-2508
    • Smith, P.J.1    Zhang, C.2    Wang, J.3    Chew, S.L.4    Zhang, M.Q.5    Krainer, A.R.6
  • 27
    • 0042121256 scopus 로고    scopus 로고
    • Mfold Web server for nucleic acid folding and hybridization prediction
    • Zuker M. Mfold Web server for nucleic acid folding and hybridization prediction. Nucleic Acids Res. 2003;31:3406-3415
    • (2003) Nucleic Acids Res , vol.31 , pp. 3406-3415
    • Zuker, M.1
  • 28
    • 33847068210 scopus 로고    scopus 로고
    • Different migration of vascular smooth muscle cells from human coronary artery bypass vessels: Role of Rho/ROCKpathway
    • Weiss S, Frischknecht K, Greutert H, et al. Different migration of vascular smooth muscle cells from human coronary artery bypass vessels: role of Rho/ROCKpathway. JVascRes. 2007;44:149-156.
    • (2007) JVascRes , vol.44 , pp. 149-156
    • Weiss, S.1    Frischknecht, K.2    Greutert, H.3
  • 29
    • 5144227218 scopus 로고    scopus 로고
    • Identification of a major locus for age-related cortical cataract on chromosome 6p12-q12 in the Beaver Dam Eye Study
    • Iyengar SK, Klein BE, Klein R, et al. Identification of a major locus for age-related cortical cataract on chromosome 6p12-q12 in the Beaver Dam Eye Study. Proc Natl Acad Sci USA. 2004;101:14485-14490.
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 14485-14490
    • Iyengar, S.K.1    Klein, B.E.2    Klein, R.3
  • 30
    • 0347418275 scopus 로고    scopus 로고
    • Prevalence and causes of visual impairment in an elderly Chinese population in Taiwan: The Shihpai Eye Study
    • Hsu WM, Cheng CY, Liu JH, Tsai SY, Chou P. Prevalence and causes of visual impairment in an elderly Chinese population in Taiwan: the Shihpai Eye Study. Ophthalmology. 2004;111:62-69.
    • (2004) Ophthalmology , vol.111 , pp. 62-69
    • Hsu, W.M.1    Cheng, C.Y.2    Liu, J.H.3    Tsai, S.Y.4    Chou, P.5
  • 31
    • 0026514839 scopus 로고
    • Prevalence of age-related lens opacities in a population: The Beaver Dam Eye Study
    • Klein BE, Klein R, Linton KL. Prevalence of age-related lens opacities in a population: the Beaver Dam Eye Study. Ophthalmology. 1992;99:546-552.
    • (1992) Ophthalmology , vol.99 , pp. 546-552
    • Klein, B.E.1    Klein, R.2    Linton, K.L.3
  • 32
    • 34347260321 scopus 로고    scopus 로고
    • Variability in the kinesin light chain 1 gene may influence risk of age-related cataract
    • Andersson ME, Zetterberg M, Tasa G, et al. Variability in the kinesin light chain 1 gene may influence risk of age-related cataract. Mol Vis. 2007;13:993-996.
    • (2007) Mol Vis , vol.13 , pp. 993-996
    • Andersson, M.E.1    Zetterberg, M.2    Tasa, G.3
  • 33
    • 33344471142 scopus 로고    scopus 로고
    • Regulation of gene expression by alternative untranslated regions
    • Hughes TA. Regulation of gene expression by alternative untranslated regions. Trends Genet. 2006;22:119-122.
    • (2006) Trends Genet , vol.22 , pp. 119-122
    • Hughes, T.A.1
  • 34
    • 0032824640 scopus 로고    scopus 로고
    • Translational effects of mutations and polymorphisms in a repressive upstream open reading frame of the human cytomegalovirus UL4 gene
    • Alderete JP, Jarrahian S, Geballe AP. Translational effects of mutations and polymorphisms in a repressive upstream open reading frame of the human cytomegalovirus UL4 gene.J Virol. 1999;73: 8330-8337.
    • (1999) J Virol , vol.73 , pp. 8330-8337
    • Alderete, J.P.1    Jarrahian, S.2    Geballe, A.P.3
  • 35
    • 19944426652 scopus 로고    scopus 로고
    • Regulatory mutations in transforming growth factor-/33 gene cause arrhythmogenic right ventricular cardiomyopathy type 1
    • Beffagna G, Occhi G, Nava A, et al. Regulatory mutations in transforming growth factor-/33 gene cause arrhythmogenic right ventricular cardiomyopathy type 1. CardiovascRes. 2005;65:366-373.
    • (2005) CardiovascRes , vol.65 , pp. 366-373
    • Beffagna, G.1    Occhi, G.2    Nava, A.3
  • 36
    • 0027234622 scopus 로고
    • Translational inhibition mediated by a short upstream open reading frame in the human cytomegalovirus gpUL4 (gp48) transcript
    • Degnin CR, Schleiss MR, Cao J, Geballe AP. Translational inhibition mediated by a short upstream open reading frame in the human cytomegalovirus gpUL4 (gp48) transcript. J Virol. 1993;67:5514-5521.
    • (1993) J Virol , vol.67 , pp. 5514-5521
    • Degnin, C.R.1    Schleiss, M.R.2    Cao, J.3    Geballe, A.P.4
  • 37
    • 0027510121 scopus 로고
    • Cell-specific translational regulation of S-adeno-sylmethionine decarboxylase mRNA: Dependence on translation and coding capacity of the cis-acting upstream open reading
    • Hill JR, Morris DR. Cell-specific translational regulation of S-adeno-sylmethionine decarboxylase mRNA: dependence on translation and coding capacity of the cis-acting upstream open reading fame. J Biol Chem. 1993;268:726-731
    • (1993) Fame. J Biol Chem , vol.268 , pp. 726-731
    • Hill, J.R.1    Morris, D.R.2
  • 38
    • 0032484213 scopus 로고    scopus 로고
    • The inhibitory upstream open reading frame from mammalian S-adenosylmethionine decarboxylase mRNA has a strict sequence specificity in critical positions
    • Mize GJ, Ruan H, Low JJ, Morris DR. The inhibitory upstream open reading frame from mammalian S-adenosylmethionine decarboxylase mRNA has a strict sequence specificity in critical positions. J Biol Chem. 1998;273:32500-32505.
    • (1998) J Biol Chem , vol.273 , pp. 32500-32505
    • Mize, G.J.1    Ruan, H.2    Low, J.J.3    Morris, D.R.4
  • 39
    • 0034742439 scopus 로고    scopus 로고
    • Association between the 5' UTR variant C178T of the serotonin receptor gene HTR3A and bipolar affective disorder
    • Niesler B, Flohr T, Nothen MM, et al. Association between the 5' UTR variant C178T of the serotonin receptor gene HTR3A and bipolar affective disorder. Pharmacogenetics. 2001;11: 471-475.
    • (2001) Pharmacogenetics , vol.11 , pp. 471-475
    • Niesler, B.1    Flohr, T.2    Nothen, M.M.3
  • 40
    • 0028145741 scopus 로고
    • The peptide product of a 5' leader cistron in the /32 adrenergic receptor mRNA inhibits receptor synthesis
    • Parola AL, Kobilka BK. The peptide product of a 5' leader cistron in the /32 adrenergic receptor mRNA inhibits receptor synthesis. J Biol Chem. 1994;269:4497-4505.
    • (1994) J Biol Chem , vol.269 , pp. 4497-4505
    • Parola, A.L.1    Kobilka, B.K.2
  • 41
    • 0031785415 scopus 로고    scopus 로고
    • The evolutionarily conserved eukary-otic arginine attenuator peptide regulates the movement of ribo-somes that have translated it
    • Wang Z, Fang P, Sachs MS. The evolutionarily conserved eukary-otic arginine attenuator peptide regulates the movement of ribo-somes that have translated it. Mol Cell Biol. 1998;18:7528-7536.
    • (1998) Mol Cell Biol , vol.18 , pp. 7528-7536
    • Wang, Z.1    Fang, P.2    Sachs, M.S.3
  • 42
    • 0023659507 scopus 로고
    • The leader peptide of yeast gene CPA1 is essential for the translational repression of its expression
    • Werner M, Feller A, Messenguy F, Pierard A. The leader peptide of yeast gene CPA1 is essential for the translational repression of its expression. Cell. 1987;49:805-813
    • (1987) Cell , vol.49 , pp. 805-813
    • Werner, M.1    Feller, A.2    Messenguy, F.3    Pierard, A.4
  • 43
    • 0034459468 scopus 로고    scopus 로고
    • Upstream open reading frames as regulators of mRNA translation
    • Morris DR, Geballe AP. Upstream open reading frames as regulators of mRNA translation. Mol Cell Biol. 2000;20:8635-8642.
    • (2000) Mol Cell Biol , vol.20 , pp. 8635-8642
    • Morris, D.R.1    Geballe, A.P.2
  • 44
    • 59649101325 scopus 로고    scopus 로고
    • Alternative splicing and promoter use in TFII-I genes
    • Makeyev AV, Bayarsaihan D. Alternative splicing and promoter use in TFII-I genes. Gene. 2009;433:16-25.
    • (2009) Gene , vol.433 , pp. 16-25
    • Makeyev, A.V.1    Bayarsaihan, D.2
  • 45
    • 49449110588 scopus 로고    scopus 로고
    • Post-transcriptional regulation of gene expression by alternative 5'-untranslated regions in carcinogenesis
    • Smith L. Post-transcriptional regulation of gene expression by alternative 5'-untranslated regions in carcinogenesis. Biochem Soc Trans. 2008;36:708-711.
    • (2008) Biochem Soc Trans , vol.36 , pp. 708-711
    • Smith, L.1


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