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Volumn 20, Issue , 2014, Pages 270-282

Gene regulation by PAX6: Structural-functional correlations of missense mutants and transcriptional control of Trpm3/miR-204

Author keywords

[No Author keywords available]

Indexed keywords

TRANSCRIPTION FACTOR PAX6; TRANSIENT RECEPTOR POTENTIAL CHANNEL M3;

EID: 84896808776     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (18)

References (54)
  • 1
    • 0030219742 scopus 로고    scopus 로고
    • Lens development and crystallin gene expression: Many roles for Pax-6
    • [PMID: 8760335]
    • Cvekl A, Piatigorsky J. Lens development and crystallin gene expression: many roles for Pax-6. Bioessays 1996; 18:621-30. [PMID: 8760335].
    • (1996) Bioessays , vol.18 , pp. 621-630
    • Cvekl, A.1    Piatigorsky, J.2
  • 2
    • 84863833138 scopus 로고    scopus 로고
    • Pax6: A multi-level regulator of ocular development
    • [PMID: 22561546]
    • Shaham O, Menuchin Y, Farhy C, Ashery-Padan R. Pax6: a multi-level regulator of ocular development. Prog Retin Eye Res 2012; 31:351-76. [PMID: 22561546].
    • (2012) Prog Retin Eye Res , vol.31 , pp. 351-376
    • Shaham, O.1    Menuchin, Y.2    Farhy, C.3    Ashery-Padan, R.4
  • 3
    • 34248545442 scopus 로고    scopus 로고
    • Foxe view of lens development and disease
    • [PMID: 17344231]
    • Medina-Martinez O, Jamrich M. Foxe view of lens development and disease. Development 2007; 134:1455-63. [PMID: 17344231].
    • (2007) Development , vol.134 , pp. 1455-1463
    • Medina-Martinez, O.1    Jamrich, M.2
  • 4
    • 84884243214 scopus 로고    scopus 로고
    • Ocular surface development and gene expression
    • [PMID: 23533700]
    • Swamynathan SK. Ocular surface development and gene expression. J Ophthalmol 2013; 2013:103947-[PMID: 23533700].
    • (2013) J Ophthalmol , vol.2013 , pp. 103947
    • Swamynathan, S.K.1
  • 5
    • 55049119613 scopus 로고    scopus 로고
    • Concise review: Pax6 transcription factor contributes to both embryonic and adult neurogenesis as a multifunctional regulator
    • [PMID: 18467663]
    • Osumi N, Shinohara H, Numayama-Tsuruta K, Maekawa M. Concise review: Pax6 transcription factor contributes to both embryonic and adult neurogenesis as a multifunctional regulator. Stem Cells 2008; 26:1663-72. [PMID: 18467663].
    • (2008) Stem Cells , vol.26 , pp. 1663-1672
    • Osumi, N.1    Shinohara, H.2    Numayama-Tsuruta, K.3    Maekawa, M.4
  • 6
    • 0034003392 scopus 로고    scopus 로고
    • Pax genes and the differentiation of hormone-producing endocrine cells in the pancreas
    • [PMID: 10704887]
    • Dohrmann C, Gruss P, Lemaire L. Pax genes and the differentiation of hormone-producing endocrine cells in the pancreas. Mech Dev 2000; 92:47-54. [PMID: 10704887].
    • (2000) Mech Dev , vol.92 , pp. 47-54
    • Dohrmann, C.1    Gruss, P.2    Lemaire, L.3
  • 7
    • 35748933472 scopus 로고    scopus 로고
    • Role of a transcription factor Pax6 in the developing vertebrate olfactory system
    • [PMID: 17908181]
    • Nomura T, Haba H, Osumi N. Role of a transcription factor Pax6 in the developing vertebrate olfactory system. Dev Growth Differ 2007; 49:683-90. [PMID: 17908181].
    • (2007) Dev Growth Differ , vol.49 , pp. 683-690
    • Nomura, T.1    Haba, H.2    Osumi, N.3
  • 8
    • 33845391367 scopus 로고    scopus 로고
    • Pax6 is required for delta-catenin/neurojugin expression during retinal, cerebellar and cortical development in mice
    • [PMID: 16973151]
    • Duparc RH, Boutemmine D, Champagne MP, Tetreault N, Bernier G. Pax6 is required for delta-catenin/neurojugin expression during retinal, cerebellar and cortical development in mice. Dev Biol 2006; 300:647-55. [PMID: 16973151].
    • (2006) Dev Biol , vol.300 , pp. 647-655
    • Duparc, R.H.1    Boutemmine, D.2    Champagne, M.P.3    Tetreault, N.4    Bernier, G.5
  • 9
    • 33845915509 scopus 로고    scopus 로고
    • Loss-and gain-of-function analyses reveal targets of Pax6 in the developing mouse telencephalon
    • [PMID: 17158062]
    • Holm PC, Mader MT, Haubst N, Wizenmann A, Sigvardsson M, Gotz M. Loss-and gain-of-function analyses reveal targets of Pax6 in the developing mouse telencephalon. Mol Cell Neurosci 2007; 34:99-119. [PMID: 17158062].
    • (2007) Mol Cell Neurosci , vol.34 , pp. 99-119
    • Holm, P.C.1    Mader, M.T.2    Haubst, N.3    Wizenmann, A.4    Sigvardsson, M.5    Gotz, M.6
  • 13
    • 79957604889 scopus 로고    scopus 로고
    • The mechanism of lens placode formation: A case of matrix-mediated morphogenesis
    • [PMID: 21540023]
    • Huang J, Rajagopal R, Liu Y, Dattilo LK, Shaham O, Ashery-Padan R, Beebe DC. The mechanism of lens placode formation: a case of matrix-mediated morphogenesis. Dev Biol 2011; 355:32-42. [PMID: 21540023].
    • (2011) Dev Biol , vol.355 , pp. 32-42
    • Huang, J.1    Rajagopal, R.2    Liu, Y.3    Dattilo, L.K.4    Shaham, O.5    Ashery-Padan, R.6    Beebe, D.C.7
  • 16
    • 27444436336 scopus 로고    scopus 로고
    • The Optimedin gene is a downstream target of Pax6
    • [PMID: 16115881]
    • Grinchuk O, Kozmik Z, Wu X, Tomarev S. The Optimedin gene is a downstream target of Pax6. J Biol Chem 2005; 280:35228-37. [PMID: 16115881].
    • (2005) J Biol Chem , vol.280 , pp. 35228-35237
    • Grinchuk, O.1    Kozmik, Z.2    Wu, X.3    Tomarev, S.4
  • 17
    • 33751109710 scopus 로고    scopus 로고
    • Six3 activation of Pax6 expression is essential for mammalian lens induction and specification
    • [PMID: 17066077]
    • Liu W, Lagutin OV, Mende M, Streit A, Oliver G. Six3 activation of Pax6 expression is essential for mammalian lens induction and specification. EMBO J 2006; 25:5383-95. [PMID: 17066077].
    • (2006) EMBO J , vol.25 , pp. 5383-5395
    • Liu, W.1    Lagutin, O.V.2    Mende, M.3    Streit, A.4    Oliver, G.5
  • 18
    • 3042582472 scopus 로고    scopus 로고
    • Expression of the alpha4 integrin subunit gene promoter is modulated by the transcription factor Pax-6 in corneal epithelial cells
    • [PMID: 15161828]
    • Zaniolo K, Leclerc S, Cvekl A, Vallieres L, Bazin R, Larouche K, Guerin SL. Expression of the alpha4 integrin subunit gene promoter is modulated by the transcription factor Pax-6 in corneal epithelial cells. Invest Ophthalmol Vis Sci 2004; 45:1692-704. [PMID: 15161828].
    • (2004) Invest Ophthalmol Vis Sci , vol.45 , pp. 1692-1704
    • Zaniolo, K.1    Leclerc, S.2    Cvekl, A.3    Vallieres, L.4    Bazin, R.5    Larouche, K.6    Guerin, S.L.7
  • 19
    • 77249170249 scopus 로고    scopus 로고
    • Lens morphogenesis is dependent on Pax6-mediated inhibition of the canonical Wnt/beta-catenin signaling in the lens surface ectoderm
    • [PMID: 20027618]
    • Machon O, Kreslova J, Ruzickova J, Vacik T, Klimova L, Fujimura N, Lachova J, Kozmik Z. Lens morphogenesis is dependent on Pax6-mediated inhibition of the canonical Wnt/beta-catenin signaling in the lens surface ectoderm. Genesis 2010; 48:86-95. [PMID: 20027618].
    • (2010) Genesis , vol.48 , pp. 86-95
    • Machon, O.1    Kreslova, J.2    Ruzickova, J.3    Vacik, T.4    Klimova, L.5    Fujimura, N.6    Lachova, J.7    Kozmik, Z.8
  • 21
    • 83355166954 scopus 로고    scopus 로고
    • The orchestration of mammalian tissue morphogenesis through a series of coherent feed-forward loops
    • [PMID: 21998302]
    • Xie Q, Cvekl A. The orchestration of mammalian tissue morphogenesis through a series of coherent feed-forward loops. J Biol Chem 2011; 286:43259-71. [PMID: 21998302].
    • (2011) J Biol Chem , vol.286 , pp. 43259-43271
    • Xie, Q.1    Cvekl, A.2
  • 22
    • 0029837282 scopus 로고    scopus 로고
    • Cooperative interactions between paired domain and homeodomain
    • [PMID: 8787739]
    • Jun S, Desplan C. Cooperative interactions between paired domain and homeodomain. Development 1996; 122:2639-50. [PMID: 8787739].
    • (1996) Development , vol.122 , pp. 2639-2650
    • Jun, S.1    Desplan, C.2
  • 23
    • 0026340588 scopus 로고
    • Pax-6, a murine paired box gene, is expressed in the developing CNS
    • [PMID: 1687460]
    • Walther C, Gruss P. Pax-6, a murine paired box gene, is expressed in the developing CNS. Development 1991; 113:1435-49. [PMID: 1687460].
    • (1991) Development , vol.113 , pp. 1435-1449
    • Walther, C.1    Gruss, P.2
  • 25
    • 0028096639 scopus 로고
    • Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing
    • [PMID: 7958875]
    • Epstein JA, Glaser T, Cai J, Jepeal L, Walton DS, Maas RL. Two independent and interactive DNA-binding subdomains of the Pax6 paired domain are regulated by alternative splicing. Genes Dev 1994; 8:2022-34. [PMID: 7958875].
    • (1994) Genes Dev , vol.8 , pp. 2022-2034
    • Epstein, J.A.1    Glaser, T.2    Cai, J.3    Jepeal, L.4    Walton, D.S.5    Maas, R.L.6
  • 26
    • 0028239775 scopus 로고
    • Identification of a Pax paired domain recognition sequence and evidence for DNA-dependent conformational changes
    • [PMID: 8132558]
    • Epstein J, Cai J, Glaser T, Jepeal L, Maas R. Identification of a Pax paired domain recognition sequence and evidence for DNA-dependent conformational changes. J Biol Chem 1994; 269:8355-61. [PMID: 8132558].
    • (1994) J Biol Chem , vol.269 , pp. 8355-8361
    • Epstein, J.1    Cai, J.2    Glaser, T.3    Jepeal, L.4    Maas, R.5
  • 27
    • 0030162151 scopus 로고    scopus 로고
    • PAX6 missense mutation in isolated foveal hypoplasia
    • [PMID: 8640214]
    • Azuma N, Nishina S, Yanagisawa H, Okuyama T, Yamada M. PAX6 missense mutation in isolated foveal hypoplasia. Nat Genet 1996; 13:141-2. [PMID: 8640214].
    • (1996) Nat Genet , vol.13 , pp. 141-142
    • Azuma, N.1    Nishina, S.2    Yanagisawa, H.3    Okuyama, T.4    Yamada, M.5
  • 28
    • 0037092593 scopus 로고    scopus 로고
    • PAX6 in sensory development
    • [PMID: 12015275]
    • van Heyningen V, Williamson KA. PAX6 in sensory development. Hum Mol Genet 2002; 11:1161-7. [PMID: 12015275].
    • (2002) Hum Mol Genet , vol.11 , pp. 1161-1167
    • van Heyningen, V.1    Williamson, K.A.2
  • 30
    • 67650627746 scopus 로고    scopus 로고
    • Histopathological characterisation of effects of the mouse Pax6(Leca4) missense mutation on eye development
    • [PMID: 19345209]
    • Ramaesh T, Williams SE, Paul C, Ramaesh K, Dhillon B, West JD. Histopathological characterisation of effects of the mouse Pax6(Leca4) missense mutation on eye development. Exp Eye Res 2009; 89:263-73. [PMID: 19345209].
    • (2009) Exp Eye Res , vol.89 , pp. 263-273
    • Ramaesh, T.1    Williams, S.E.2    Paul, C.3    Ramaesh, K.4    Dhillon, B.5    West, J.D.6
  • 31
    • 0035697310 scopus 로고    scopus 로고
    • Molecular characterization of Pax6(2Neu) through Pax6(10Neu): An extension of the Pax6 allelic series and the identification of two possible hypomorph alleles in the mouse Mus musculus
    • [PMID: 11779807]
    • Favor J, Peters H, Hermann T, Schmahl W, Chatterjee B, Neuhauser-Klaus A, Sandulache R. Molecular characterization of Pax6(2Neu) through Pax6(10Neu): an extension of the Pax6 allelic series and the identification of two possible hypomorph alleles in the mouse Mus musculus. Genetics 2001; 159:1689-700. [PMID: 11779807].
    • (2001) Genetics , vol.159 , pp. 1689-1700
    • Favor, J.1    Peters, H.2    Hermann, T.3    Schmahl, W.4    Chatterjee, B.5    Neuhauser-Klaus, A.6    Sandulache, R.7
  • 32
    • 84873723436 scopus 로고    scopus 로고
    • Functional dissection of the paired domain of Pax6 reveals molecular mechanisms of coordinating neurogenesis and proliferation
    • [PMID: 23404109]
    • Walcher T, Xie Q, Sun J, Irmler M, Beckers J, Ozturk T, Niessing D, Stoykova A, Cvekl A, Ninkovic J, Gotz M. Functional dissection of the paired domain of Pax6 reveals molecular mechanisms of coordinating neurogenesis and proliferation. Development 2013; 140:1123-36. [PMID: 23404109].
    • (2013) Development , vol.140 , pp. 1123-1136
    • Walcher, T.1    Xie, Q.2    Sun, J.3    Irmler, M.4    Beckers, J.5    Ozturk, T.6    Niessing, D.7    Stoykova, A.8    Cvekl, A.9    Ninkovic, J.10    Gotz, M.11
  • 37
    • 0032877154 scopus 로고    scopus 로고
    • Glucagon gene transcription activation mediated by synergistic interactions of pax-6 and cdx-2 with the p300 co-activator
    • [PMID: 10506141]
    • Hussain MA, Habener JF. Glucagon gene transcription activation mediated by synergistic interactions of pax-6 and cdx-2 with the p300 co-activator. J Biol Chem 1999; 274:28950-7. [PMID: 10506141].
    • (1999) J Biol Chem , vol.274 , pp. 28950-28957
    • Hussain, M.A.1    Habener, J.F.2
  • 39
    • 0033014232 scopus 로고    scopus 로고
    • Pax-6 interactions with TATA-box-binding protein and retinoblastoma protein
    • [PMID: 10359315]
    • Cvekl A, Kashanchi F, Brady JN, Piatigorsky J. Pax-6 interactions with TATA-box-binding protein and retinoblastoma protein. Invest Ophthalmol Vis Sci 1999; 40:1343-50. [PMID: 10359315].
    • (1999) Invest Ophthalmol Vis Sci , vol.40 , pp. 1343-1350
    • Cvekl, A.1    Kashanchi, F.2    Brady, J.N.3    Piatigorsky, J.4
  • 40
    • 7444233421 scopus 로고    scopus 로고
    • Regulation of gene expression by Pax6 in ocular cells: A case of tissue-preferred expression of crystallins in lens
    • [PMID: 15558475]
    • Cvekl A, Yang Y, Chauhan BK, Cveklova K. Regulation of gene expression by Pax6 in ocular cells: a case of tissue-preferred expression of crystallins in lens. Int J Dev Biol 2004; 48:829-44. [PMID: 15558475].
    • (2004) Int J Dev Biol , vol.48 , pp. 829-844
    • Cvekl, A.1    Yang, Y.2    Chauhan, B.K.3    Cveklova, K.4
  • 42
    • 3042680569 scopus 로고    scopus 로고
    • Functional interactions between alternatively spliced forms of Pax6 in crystallin gene regulation and in haploinsufficiency
    • [PMID: 15020706]
    • Chauhan BK, Yang Y, Cveklova K, Cvekl A. Functional interactions between alternatively spliced forms of Pax6 in crystallin gene regulation and in haploinsufficiency. Nucleic Acids Res 2004; 32:1696-709. [PMID: 15020706].
    • (2004) Nucleic Acids Res , vol.32 , pp. 1696-1709
    • Chauhan, B.K.1    Yang, Y.2    Cveklova, K.3    Cvekl, A.4
  • 43
    • 0942265584 scopus 로고    scopus 로고
    • Functional properties of natural human PAX6 and PAX6(5a) mutants
    • [PMID: 14744876]
    • Chauhan BK, Yang Y, Cveklova K, Cvekl A. Functional properties of natural human PAX6 and PAX6(5a) mutants. Invest Ophthalmol Vis Sci 2004; 45:385-92. [PMID: 14744876].
    • (2004) Invest Ophthalmol Vis Sci , vol.45 , pp. 385-392
    • Chauhan, B.K.1    Yang, Y.2    Cveklova, K.3    Cvekl, A.4
  • 44
    • 0033786113 scopus 로고    scopus 로고
    • Overexpression of PAX6(5a) in lens fiber cells results in cataract and upregulation of (alpha)5(beta)1 integrin expression
    • [PMID: 10954416]
    • Duncan MK, Kozmik Z, Cveklova K, Piatigorsky J, Cvekl A. Overexpression of PAX6(5a) in lens fiber cells results in cataract and upregulation of (alpha)5(beta)1 integrin expression. J Cell Sci 2000; 113:3173-85. [PMID: 10954416].
    • (2000) J Cell Sci , vol.113 , pp. 3173-3185
    • Duncan, M.K.1    Kozmik, Z.2    Cveklova, K.3    Piatigorsky, J.4    Cvekl, A.5
  • 45
    • 78649643441 scopus 로고    scopus 로고
    • Using protein design algorithms to understand the molecular basis of disease caused by protein-DNA interactions: The Pax6 example
    • [PMID: 20685816]
    • Alibés A, Nadra AD, De Masi F, Bulyk ML, Serrano L, Stricher F. Using protein design algorithms to understand the molecular basis of disease caused by protein-DNA interactions: the Pax6 example. Nucleic Acids Res 2010; 38:7422-31. [PMID: 20685816].
    • (2010) Nucleic Acids Res , vol.38 , pp. 7422-7431
    • Alibés, A.1    Nadra, A.D.2    de Masi, F.3    Bulyk, M.L.4    Serrano, L.5    Stricher, F.6
  • 46
    • 84864296719 scopus 로고    scopus 로고
    • Predictions on impact of missense mutations on structure function relationship of PAX6 and its alternatively spliced isoform PAX6(5a)
    • [PMID: 22392277]
    • Shukla S, Mishra R. Predictions on impact of missense mutations on structure function relationship of PAX6 and its alternatively spliced isoform PAX6(5a). Interdiscip Sci 2012; 4:54-73. [PMID: 22392277].
    • (2012) Interdiscip Sci , vol.4 , pp. 54-73
    • Shukla, S.1    Mishra, R.2
  • 47
    • 0344731080 scopus 로고    scopus 로고
    • Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and C-terminal subdomain in DNA binding
    • [PMID: 10346815]
    • Xu HE, Rould MA, Xu W, Epstein JA, Maas RL, Pabo CO. Crystal structure of the human Pax6 paired domain-DNA complex reveals specific roles for the linker region and C-terminal subdomain in DNA binding. Genes Dev 1999; 13:1263-75. [PMID: 10346815].
    • (1999) Genes Dev , vol.13 , pp. 1263-1275
    • Xu, H.E.1    Rould, M.A.2    Xu, W.3    Epstein, J.A.4    Maas, R.L.5    Pabo, C.O.6
  • 48
    • 0029160486 scopus 로고
    • High resolution crystal structure of a paired (Pax) class cooperative homeodomain dimer on DNA
    • [PMID: 7671301]
    • Wilson DS, Guenther B, Desplan C, Kuriyan J. High resolution crystal structure of a paired (Pax) class cooperative homeodomain dimer on DNA. Cell 1995; 82:709-19. [PMID: 7671301].
    • (1995) Cell , vol.82 , pp. 709-719
    • Wilson, D.S.1    Guenther, B.2    Desplan, C.3    Kuriyan, J.4
  • 49
    • 37249030346 scopus 로고    scopus 로고
    • A novel arginine-to-cysteine substitution in the triple helical region of the alpha1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers-Danlos phenotype
    • [PMID: 18028452]
    • Lund A, Joensen F, Christensen E, Duno M, Skovby F, Schwartz M. A novel arginine-to-cysteine substitution in the triple helical region of the alpha1(I) collagen chain in a family with an osteogenesis imperfecta/Ehlers-Danlos phenotype. Clin Genet 2008; 73:97-101. [PMID: 18028452].
    • (2008) Clin Genet , vol.73 , pp. 97-101
    • Lund, A.1    Joensen, F.2    Christensen, E.3    Duno, M.4    Skovby, F.5    Schwartz, M.6
  • 50
    • 0035929640 scopus 로고    scopus 로고
    • Interaction of Maf transcription factors with Pax-6 results in synergistic activation of the glucagon promoter
    • [PMID: 11457839]
    • Planque N, Leconte L, Coquelle FM, Benkhelifa S, Martin P, Felder-Schmittbuhl MP, Saule S. Interaction of Maf transcription factors with Pax-6 results in synergistic activation of the glucagon promoter. J Biol Chem 2001; 276:35751-60. [PMID: 11457839].
    • (2001) J Biol Chem , vol.276 , pp. 35751-35760
    • Planque, N.1    Leconte, L.2    Coquelle, F.M.3    Benkhelifa, S.4    Martin, P.5    Felder-Schmittbuhl, M.P.6    Saule, S.7
  • 51
    • 77953808789 scopus 로고    scopus 로고
    • Epigenetic regulatory mechanisms in vertebrate eye development and disease
    • [PMID: 20179734]
    • Cvekl A, Mitton KP. Epigenetic regulatory mechanisms in vertebrate eye development and disease. Heredity (Edinb) 2010; 105:135-51. [PMID: 20179734].
    • (2010) Heredity (Edinb) , vol.105 , pp. 135-151
    • Cvekl, A.1    Mitton, K.P.2
  • 53
    • 0037025294 scopus 로고    scopus 로고
    • CREB-binding protein/p300 co-activation of crystallin gene expression
    • [PMID: 11943779]
    • Chen Q, Dowhan DH, Liang D, Moore DD, Overbeek PA. CREB-binding protein/p300 co-activation of crystallin gene expression. J Biol Chem 2002; 277:24081-9. [PMID: 11943779].
    • (2002) J Biol Chem , vol.277 , pp. 24081-24089
    • Chen, Q.1    Dowhan, D.H.2    Liang, D.3    Moore, D.D.4    Overbeek, P.A.5
  • 54
    • 77958168396 scopus 로고    scopus 로고
    • Facilitated DNA search by multidomain transcription factors: Cross talk via a flexible linker
    • [PMID: 20713004]
    • Vuzman D, Polonsky M, Levy Y. Facilitated DNA search by multidomain transcription factors: cross talk via a flexible linker. Biophys J 2010; 99:1202-11. [PMID: 20713004].
    • (2010) Biophys J , vol.99 , pp. 1202-1211
    • Vuzman, D.1    Polonsky, M.2    Levy, Y.3


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