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Volumn 53, Issue 13, 2012, Pages 8214-8221

An ENU mutagenesis screen in zebrafish for visual system mutants identifies a novel splice-acceptor site mutation in patched2 that results in colobomas

Author keywords

[No Author keywords available]

Indexed keywords

CYCLOPAMINE; ETHYLNITROSOUREA; PROTEIN PATCHED 2; SONIC HEDGEHOG PROTEIN;

EID: 84873386881     PISSN: 01460404     EISSN: 15525783     Source Type: Journal    
DOI: 10.1167/iovs.12-11061     Document Type: Article
Times cited : (25)

References (44)
  • 1
    • 79952400325 scopus 로고    scopus 로고
    • Toward a better understanding of human eye disease insights from the zebrafish, Danio rerio
    • Bibliowicz J, Tittle RK, Gross JM. Toward a better understanding of human eye disease insights from the zebrafish, Danio rerio. Prog Mol Biol Transl Sci. 2011;100:287-330.
    • (2011) Prog Mol Biol Transl Sci. , vol.100 , pp. 287-330
    • Bibliowicz, J.1    Tittle, R.K.2    Gross, J.M.3
  • 2
    • 38949180529 scopus 로고    scopus 로고
    • Zebrafish mutants as models for congenital ocular disorders in humans
    • Gross JM, Perkins BD. Zebrafish mutants as models for congenital ocular disorders in humans. Mol Reprod Dev. 2008;75:547-555.
    • (2008) Mol Reprod Dev. , vol.75 , pp. 547-555
    • Gross, J.M.1    Perkins, B.D.2
  • 3
    • 80052973032 scopus 로고    scopus 로고
    • The genetics of ocular disorders: Insights from the zebrafish
    • Morris AC. The genetics of ocular disorders: insights from the zebrafish. Birth Defects Res C Embryo Today. 2011;93:215-228.
    • (2011) Birth Defects Res C Embryo Today. , vol.93 , pp. 215-228
    • Morris, A.C.1
  • 4
    • 84856959269 scopus 로고    scopus 로고
    • The visual system of zebrafish and its use to model human ocular diseases
    • Gestri G, Link BA, Neuhauss SC. The visual system of zebrafish and its use to model human ocular diseases. Dev Neurobiol. 2012;72:302-327.
    • (2012) Dev Neurobiol. , vol.72 , pp. 302-327
    • Gestri, G.1    Link, B.A.2    Neuhauss, S.C.3
  • 5
    • 79960143030 scopus 로고    scopus 로고
    • Application of zebrafish oculomotor behavior to model human disorders
    • Maurer CM, Huang YY, Neuhauss SC. Application of zebrafish oculomotor behavior to model human disorders. Rev Neurosci. 2011;22:5-16.
    • (2011) Rev Neurosci. , vol.22 , pp. 5-16
    • Maurer, C.M.1    Huang, Y.Y.2    Neuhauss, S.C.3
  • 6
    • 80052788666 scopus 로고    scopus 로고
    • Single nucleotide polymorphism (SNP) panels for rapid positional cloning in zebrafish
    • Clark MD, Guryev V, Bruijn E, et al. Single nucleotide polymorphism (SNP) panels for rapid positional cloning in zebrafish. Methods Cell Biol. 2011;104:219-235.
    • (2011) Methods Cell Biol. , vol.104 , pp. 219-235
    • Clark, M.D.1    Guryev, V.2    Bruijn, E.3
  • 7
    • 84858200179 scopus 로고    scopus 로고
    • Efficient mapping and cloning of mutations in zebrafish by low-coverage whole-genome sequencing
    • Bowen ME, Henke K, Siegfried KR, Warman ML, Harris MP. Efficient mapping and cloning of mutations in zebrafish by low-coverage whole-genome sequencing. Genetics. 2012;190: 1017-1024.
    • (2012) Genetics. , vol.190 , pp. 1017-1024
    • Bowen, M.E.1    Henke, K.2    Siegfried, K.R.3    Warman, M.L.4    Harris, M.P.5
  • 8
    • 84859354783 scopus 로고    scopus 로고
    • Fast homozygosity mapping and identification of a zebrafish ENU-induced mutation by whole-genome sequencing
    • Voz ML, Coppieters W, Manfroid I, et al. Fast homozygosity mapping and identification of a zebrafish ENU-induced mutation by whole-genome sequencing. PLoS One. 2012;7: e34671.
    • (2012) PLoS One. , vol.7
    • Voz, M.L.1    Coppieters, W.2    Manfroid, I.3
  • 9
    • 84864581937 scopus 로고    scopus 로고
    • Mutation mapping and identification by whole-genome sequencing
    • Leshchiner I, Alexa K, Kelsey P, et al. Mutation mapping and identification by whole-genome sequencing. Genome Res. 2012;22:1541-1548.
    • (2012) Genome Res. , vol.22 , pp. 1541-1548
    • Leshchiner, I.1    Alexa, K.2    Kelsey, P.3
  • 12
    • 0028270120 scopus 로고
    • Efficient recovery of ENU-induced mutations from the zebrafish germline
    • Solnica-Krezel L, Schier AF, Driever W. Efficient recovery of ENU-induced mutations from the zebrafish germline. Genetics. 1994;136:1401-1420.
    • (1994) Genetics. , vol.136 , pp. 1401-1420
    • Solnica-Krezel, L.1    Schier, A.F.2    Driever, W.3
  • 13
    • 69049086297 scopus 로고    scopus 로고
    • Immunohistochemistry on cryosections from embryonic and adult zebrafish eyes
    • doi:10.1101/pdb.prot4779
    • Uribe RA, Gross JM. Immunohistochemistry on cryosections from embryonic and adult zebrafish eyes. CSH Protoc. 2007; doi:10.1101/pdb.prot4779.
    • (2007) CSH Protoc
    • Uribe, R.A.1    Gross, J.M.2
  • 14
    • 0028350952 scopus 로고
    • Whole-mount in situ hybridizations on zebrafish embryos using a mixture of digoxigenin-and fluorescein-labelled probes
    • Jowett T, Lettice L. Whole-mount in situ hybridizations on zebrafish embryos using a mixture of digoxigenin-and fluorescein-labelled probes. Trends Genet. 1994;10:73-74.
    • (1994) Trends Genet. , vol.10 , pp. 73-74
    • Jowett, T.1    Lettice, L.2
  • 15
    • 44749090636 scopus 로고    scopus 로고
    • Zebrafish blowout provides genetic evidence for Patched1-mediated negative regulation of Hedgehog signaling within the proximal optic vesicle of the vertebrate eye
    • Lee J, Willer JR, Willer GB, Smith K, Gregg RG, Gross JM. Zebrafish blowout provides genetic evidence for Patched1-mediated negative regulation of Hedgehog signaling within the proximal optic vesicle of the vertebrate eye. Dev Biol. 2008; 319:10-22.
    • (2008) Dev Biol. , vol.319 , pp. 10-22
    • Lee, J.1    Willer, J.R.2    Willer, G.B.3    Smith, K.4    Gregg, R.G.5    Gross, J.M.6
  • 17
    • 43149104980 scopus 로고    scopus 로고
    • Genetic analysis of two zebrafish patched homologues identifies novel roles for the hedgehog signaling pathway
    • Koudijs MJ, den Broeder MJ, Groot E, van Eeden FJ. Genetic analysis of two zebrafish patched homologues identifies novel roles for the hedgehog signaling pathway. BMC Dev Biol. 2008;8:15.
    • (2008) BMC Dev Biol. , vol.8 , pp. 15
    • Koudijs, M.J.1    den Broeder, M.J.2    Groot, E.3    van Eeden, F.J.4
  • 18
    • 0034964445 scopus 로고    scopus 로고
    • A hedgehog-insensitive form of patched provides evidence for direct long-range morphogen activity of sonic hedgehog in the neural tube
    • Briscoe J, Chen Y, Jessell TM, Struhl G. A hedgehog-insensitive form of patched provides evidence for direct long-range morphogen activity of sonic hedgehog in the neural tube. Mol Cell. 2001;7:1279-1291.
    • (2001) Mol Cell. , vol.7 , pp. 1279-1291
    • Briscoe, J.1    Chen, Y.2    Jessell, T.M.3    Struhl, G.4
  • 19
    • 0033636788 scopus 로고    scopus 로고
    • In vivo functions of the patched protein: Requirement of the C terminus for target gene inactivation but not Hedgehog sequestration
    • Johnson RL, Milenkovic L, Scott MP. In vivo functions of the patched protein: requirement of the C terminus for target gene inactivation but not Hedgehog sequestration. Mol Cell. 2000;6:467-478.
    • (2000) Mol Cell. , vol.6 , pp. 467-478
    • Johnson, R.L.1    Milenkovic, L.2    Scott, M.P.3
  • 20
    • 0029791854 scopus 로고    scopus 로고
    • Spatial regulation of a zebrafish patched homologue reflects the roles of sonic hedgehog and protein kinase A in neural tube and somite patterning
    • Concordet JP, Lewis KE, Moore JW, et al. Spatial regulation of a zebrafish patched homologue reflects the roles of sonic hedgehog and protein kinase A in neural tube and somite patterning. Development. 1996;122:2835-2846.
    • (1996) Development. , vol.122 , pp. 2835-2846
    • Concordet, J.P.1    Lewis, K.E.2    Moore, J.W.3
  • 21
    • 0033121076 scopus 로고    scopus 로고
    • Characterisation of a second patched gene in the zebrafish Danio rerio and the differential response of patched genes to Hedgehog signalling
    • Lewis KE, Concordet JP, Ingham PW. Characterisation of a second patched gene in the zebrafish Danio rerio and the differential response of patched genes to Hedgehog signalling. Dev Biol. 1999;208:14-29.
    • (1999) Dev Biol. , vol.208 , pp. 14-29
    • Lewis, K.E.1    Concordet, J.P.2    Ingham, P.W.3
  • 22
    • 0030866154 scopus 로고    scopus 로고
    • Altered neural cell fates and medulloblastoma in mouse patched mutants
    • Goodrich LV, Milenkovic L, Higgins KM, Scott MP. Altered neural cell fates and medulloblastoma in mouse patched mutants. Science. 1997;277:1109-1113.
    • (1997) Science. , vol.277 , pp. 1109-1113
    • Goodrich, L.V.1    Milenkovic, L.2    Higgins, K.M.3    Scott, M.P.4
  • 23
    • 0029843937 scopus 로고    scopus 로고
    • Regulation of patched by sonic hedgehog in the developing neural tube
    • Marigo V, Tabin CJ. Regulation of patched by sonic hedgehog in the developing neural tube. Proc Natl Acad Sci U S A. 1996; 93:9346-9351.
    • (1996) Proc Natl Acad Sci U S A. , vol.93 , pp. 9346-9351
    • Marigo, V.1    Tabin, C.J.2
  • 24
    • 0032486433 scopus 로고    scopus 로고
    • Teratogenmediated inhibition of target tissue response to Shh signaling
    • Cooper MK, Porter JA, Young KE, Beachy PA. Teratogenmediated inhibition of target tissue response to Shh signaling. Science. 1998;280:1603-1607.
    • (1998) Science. , vol.280 , pp. 1603-1607
    • Cooper, M.K.1    Porter, J.A.2    Young, K.E.3    Beachy, P.A.4
  • 25
    • 0037158748 scopus 로고    scopus 로고
    • Patched acts catalytically to suppress the activity of Smoothened
    • Taipale J, Cooper MK, Maiti T, Beachy PA. Patched acts catalytically to suppress the activity of Smoothened. Nature. 2002;418:892-897.
    • (2002) Nature. , vol.418 , pp. 892-897
    • Taipale, J.1    Cooper, M.K.2    Maiti, T.3    Beachy, P.A.4
  • 26
    • 39049146684 scopus 로고    scopus 로고
    • The zebrafish mutants dre, uki, and lep encode negative regulators of the hedgehog signaling pathway
    • Koudijs MJ, den Broeder MJ, Keijser A, et al. The zebrafish mutants dre, uki, and lep encode negative regulators of the hedgehog signaling pathway. PLoS Genet. 2005;1:e19.
    • (2005) PLoS Genet. , vol.1
    • Koudijs, M.J.1    den Broeder, M.J.2    Keijser, A.3
  • 27
    • 23944494639 scopus 로고    scopus 로고
    • Morphogenesis of the anterior segment in the zebrafish eye
    • Soules KA, Link BA. Morphogenesis of the anterior segment in the zebrafish eye. BMC Dev Biol. 2005;5:12.
    • (2005) BMC Dev Biol. , vol.5 , pp. 12
    • Soules, K.A.1    Link, B.A.2
  • 28
    • 77949878447 scopus 로고    scopus 로고
    • Cell fate and differentiation of the developing ocular lens
    • Greiling TM, Aose M, Clark JI. Cell fate and differentiation of the developing ocular lens. Invest Ophthalmol Vis Sci. 2010; 51:1540-1546.
    • (2010) Invest Ophthalmol Vis Sci. , vol.51 , pp. 1540-1546
    • Greiling, T.M.1    Aose, M.2    Clark, J.I.3
  • 29
    • 70349100121 scopus 로고    scopus 로고
    • Early lens development in the zebrafish: A three-dimensional time-lapse analysis
    • Greiling TM, Clark JI. Early lens development in the zebrafish: a three-dimensional time-lapse analysis. Dev Dyn. 2009;238: 2254-2265.
    • (2009) Dev Dyn. , vol.238 , pp. 2254-2265
    • Greiling, T.M.1    Clark, J.I.2
  • 30
    • 78651242877 scopus 로고    scopus 로고
    • Uhrf1 and Dnmt1 are required for development and maintenance of the zebrafish lens
    • Tittle RK, Sze R, Ng A, et al. Uhrf1 and Dnmt1 are required for development and maintenance of the zebrafish lens. Dev Biol. 2011;350:50-63.
    • (2011) Dev Biol. , vol.350 , pp. 50-63
    • Tittle, R.K.1    Sze, R.2    Ng, A.3
  • 31
    • 77956594634 scopus 로고    scopus 로고
    • The ubiquitin proteasome system is required for cell proliferation of the lens epithelium and for differentiation of lens fiber cells in zebrafish
    • Imai F, Yoshizawa A, Fujimori-Tonou N, Kawakami K, Masai I. The ubiquitin proteasome system is required for cell proliferation of the lens epithelium and for differentiation of lens fiber cells in zebrafish. Development. 2010;137:3257-3268.
    • (2010) Development. , vol.137 , pp. 3257-3268
    • Imai, F.1    Yoshizawa, A.2    Fujimori-Tonou, N.3    Kawakami, K.4    Masai, I.5
  • 33
    • 2442482418 scopus 로고    scopus 로고
    • Hedgehog signaling in vertebrate eye development: A growing puzzle
    • Amato MA, Boy S, Perron M. Hedgehog signaling in vertebrate eye development: a growing puzzle. Cell Mol Life Sci. 2004;61: 899-910.
    • (2004) Cell Mol Life Sci. , vol.61 , pp. 899-910
    • Amato, M.A.1    Boy, S.2    Perron, M.3
  • 34
    • 70350214500 scopus 로고    scopus 로고
    • From progenitors to differentiated cells in the vertebrate retina
    • Agathocleous M, Harris WA. From progenitors to differentiated cells in the vertebrate retina. Annu Rev Cell Dev Biol. 2009; 25:45-69.
    • (2009) Annu Rev Cell Dev Biol. , vol.25 , pp. 45-69
    • Agathocleous, M.1    Harris, W.A.2
  • 35
    • 0029777408 scopus 로고    scopus 로고
    • Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function
    • Chiang C, Litingtung Y, Lee E, et al. Cyclopia and defective axial patterning in mice lacking Sonic hedgehog gene function. Nature. 1996;383:407-413.
    • (1996) Nature. , vol.383 , pp. 407-413
    • Chiang, C.1    Litingtung, Y.2    Lee, E.3
  • 36
    • 0030294408 scopus 로고    scopus 로고
    • Mutations in the human Sonic Hedgehog gene cause holoprosencephaly
    • Roessler E, Belloni E, Gaudenz K, et al. Mutations in the human Sonic Hedgehog gene cause holoprosencephaly. Nat Genet. 1996;14:357-360.
    • (1996) Nat Genet. , vol.14 , pp. 357-360
    • Roessler, E.1    Belloni, E.2    Gaudenz, K.3
  • 37
    • 0031816611 scopus 로고    scopus 로고
    • Human developmental disorders and the Sonic hedgehog pathway
    • Ming JE, Roessler E, Muenke M. Human developmental disorders and the Sonic hedgehog pathway. Mol Med Today. 1998;4:343-349.
    • (1998) Mol Med Today. , vol.4 , pp. 343-349
    • Ming, J.E.1    Roessler, E.2    Muenke, M.3
  • 38
    • 0036556309 scopus 로고    scopus 로고
    • Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly
    • Ming JE, Kaupas ME, Roessler E, et al. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly. Hum Genet. 2002;110:297-301.
    • (2002) Hum Genet. , vol.110 , pp. 297-301
    • Ming, J.E.1    Kaupas, M.E.2    Roessler, E.3
  • 39
    • 0029347087 scopus 로고
    • Patterning activities of vertebrate hedgehog proteins in the developing eye and brain
    • Ekker SC, Ungar AR, Greenstein P, et al. Patterning activities of vertebrate hedgehog proteins in the developing eye and brain. Curr Biol. 1995;5:944-955.
    • (1995) Curr Biol. , vol.5 , pp. 944-955
    • Ekker, S.C.1    Ungar, A.R.2    Greenstein, P.3
  • 40
    • 0028864430 scopus 로고
    • Midline signalling is required for Pax gene regulation and patterning of the eyes
    • Macdonald R, Barth KA, Xu Q, Holder N, Mikkola I, Wilson SW. Midline signalling is required for Pax gene regulation and patterning of the eyes. Development. 1995;121:3267-3278.
    • (1995) Development. , vol.121 , pp. 3267-3278
    • McDonald, R.1    Barth, K.A.2    Xu, Q.3    Holder, N.4    Mikkola, I.5    Wilson, S.W.6
  • 41
    • 0037730213 scopus 로고    scopus 로고
    • A novel function for Hedgehog signalling in retinal pigment epithelium differentiation
    • Perron M, Boy S, Amato MA, et al. A novel function for Hedgehog signalling in retinal pigment epithelium differentiation. Development. 2003;130:1565-1577.
    • (2003) Development. , vol.130 , pp. 1565-1577
    • Perron, M.1    Boy, S.2    Amato, M.A.3
  • 42
    • 0035872915 scopus 로고    scopus 로고
    • Temporal and spatial effects of Sonic hedgehog signaling in chick eye morphogenesis
    • Zhang XM, Yang XJ. Temporal and spatial effects of Sonic hedgehog signaling in chick eye morphogenesis. Dev Biol. 2001;233:271-290.
    • (2001) Dev Biol. , vol.233 , pp. 271-290
    • Zhang, X.M.1    Yang, X.J.2
  • 43
    • 0036076390 scopus 로고    scopus 로고
    • Axes establishment during eye morphogenesis in Xenopus by coordinate and antagonistic actions of BMP4, Shh, and RA
    • Sasagawa S, Takabatake T, Takabatake Y, Muramatsu T, Takeshima K. Axes establishment during eye morphogenesis in Xenopus by coordinate and antagonistic actions of BMP4, Shh, and RA. Genesis. 2002;33:86-96.
    • (2002) Genesis. , vol.33 , pp. 86-96
    • Sasagawa, S.1    Takabatake, T.2    Takabatake, Y.3    Muramatsu, T.4    Takeshima, K.5
  • 44
    • 33748690784 scopus 로고    scopus 로고
    • The C-terminal tail of the Hedgehog receptor Patched regulates both localization and turnover
    • Lu X, Liu S, Kornberg TB. The C-terminal tail of the Hedgehog receptor Patched regulates both localization and turnover. Genes Dev. 2006;20:2539-2551.
    • (2006) Genes Dev. , vol.20 , pp. 2539-2551
    • Lu, X.1    Liu, S.2    Kornberg, T.B.3


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