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Volumn 7, Issue 10, 2014, Pages 1153-1163

Genetic interactions between planar cell polarity genes cause diverse neural tube defects in mice

Author keywords

Craniorachischisis; Genetic interactions; Multiple heterozygosity; Neural tube defects; Planar cell polarity

Indexed keywords

MUTANT PROTEIN;

EID: 84907549281     PISSN: 17548403     EISSN: 17548411     Source Type: Journal    
DOI: 10.1242/dmm.016758     Document Type: Article
Times cited : (71)

References (59)
  • 2
    • 84871775384 scopus 로고    scopus 로고
    • The Wnt coreceptor Ryk regulates Wnt/planar cell polarity by modulating the degradation of the core planar cell polarity component Vangl2
    • Andre, P., Wang, Q., Wang, N., Gao, B., Schilit, A., Halford, M. M., Stacker, S. A., Zhang, X. and Yang, Y. (2012). The Wnt coreceptor Ryk regulates Wnt/planar cell polarity by modulating the degradation of the core planar cell polarity component Vangl2. J. Biol. Chem. 287, 44518-44525.
    • (2012) J. Biol. Chem. , vol.287 , pp. 44518-44525
    • Andre, P.1    Wang, Q.2    Wang, N.3    Gao, B.4    Schilit, A.5    Halford, M.M.6    Stacker, S.A.7    Zhang, X.8    Yang, Y.9
  • 5
    • 81255171519 scopus 로고    scopus 로고
    • Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects
    • Bosoi, C. M., Capra, V., Allache, R., Trinh, V. Q., De Marco, P., Merello, E., Drapeau, P., Bassuk, A. G. and Kibar, Z. (2011). Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects. Hum. Mutat. 32, 1371-1375.
    • (2011) Hum. Mutat. , vol.32 , pp. 1371-1375
    • Bosoi, C.M.1    Capra, V.2    Allache, R.3    Trinh, V.Q.4    De Marco, P.5    Merello, E.6    Drapeau, P.7    Bassuk, A.G.8    Kibar, Z.9
  • 7
    • 0020002198 scopus 로고
    • Neural tube development in mutant (curly tail) and normal mouse embryos: The timing of posterior neuropore closure in vivo and in vitro
    • Copp, A. J., Seller, M. J. and Polani, P. E. (1982). Neural tube development in mutant (curly tail) and normal mouse embryos: the timing of posterior neuropore closure in vivo and in vitro. J. Embryol. Exp. Morphol. 69, 151-167.
    • (1982) J. Embryol. Exp. Morphol. , vol.69 , pp. 151-167
    • Copp, A.J.1    Seller, M.J.2    Polani, P.E.3
  • 8
    • 0028040705 scopus 로고
    • Developmental basis of severe neural tube defects in the loop-tail (Lp) mutant mouse: Use of microsatellite DNA markers to identify embryonic genotype
    • Copp, A. J., Checiu, I. and Henson, J. N. (1994). Developmental basis of severe neural tube defects in the loop-tail (Lp) mutant mouse: use of microsatellite DNA markers to identify embryonic genotype. Dev. Biol. 165, 20-29.
    • (1994) Dev. Biol. , vol.165 , pp. 20-29
    • Copp, A.J.1    Checiu, I.2    Henson, J.N.3
  • 9
    • 0141483382 scopus 로고    scopus 로고
    • The genetic basis of mammalian neurulation
    • Copp, A. J., Greene, N. D. and Murdoch, J. N. (2003). The genetic basis of mammalian neurulation. Nat. Rev. Genet. 4, 784-793.
    • (2003) Nat. Rev. Genet. , vol.4 , pp. 784-793
    • Copp, A.J.1    Greene, N.D.2    Murdoch, J.N.3
  • 10
    • 84880329695 scopus 로고    scopus 로고
    • Neural tube defects: Recent advances, unsolved questions, and controversies
    • Copp, A. J., Stanier, P. and Greene, N. D. (2013). Neural tube defects: recent advances, unsolved questions, and controversies. Lancet Neurol. 12, 799-810.
    • (2013) Lancet Neurol. , vol.12 , pp. 799-810
    • Copp, A.J.1    Stanier, P.2    Greene, N.D.3
  • 14
    • 55549083477 scopus 로고    scopus 로고
    • Planar polarization in embryonic epidermis orchestrates global asymmetric morphogenesis of hair follicles
    • Devenport, D. and Fuchs, E. (2008). Planar polarization in embryonic epidermis orchestrates global asymmetric morphogenesis of hair follicles. Nat. Cell Biol. 10, 1257-1268.
    • (2008) Nat. Cell Biol. , vol.10 , pp. 1257-1268
    • Devenport, D.1    Fuchs, E.2
  • 15
    • 79952058211 scopus 로고    scopus 로고
    • The prevalence of congenital anomalies in Europe
    • Dolk, H., Loane, M. and Garne, E. (2010). The prevalence of congenital anomalies in Europe. Adv. Exp. Med. Biol. 686, 349-364.
    • (2010) Adv. Exp. Med. Biol. , vol.686 , pp. 349-364
    • Dolk, H.1    Loane, M.2    Garne, E.3
  • 19
    • 0034760668 scopus 로고    scopus 로고
    • The flamingo-related mouse Celsr family (Celsr1-3) genes exhibit distinct patterns of expression during embryonic development
    • Formstone, C. J. and Little, P. F. (2001). The flamingo-related mouse Celsr family (Celsr1-3) genes exhibit distinct patterns of expression during embryonic development. Mech. Dev. 109, 91-94.
    • (2001) Mech. Dev. , vol.109 , pp. 91-94
    • Formstone, C.J.1    Little, P.F.2
  • 20
    • 77953230310 scopus 로고    scopus 로고
    • Basal enrichment within neuroepithelia suggests novel function(s) for Celsr1 protein
    • Formstone, C. J., Moxon, C., Murdoch, J., Little, P. and Mason, I. (2010). Basal enrichment within neuroepithelia suggests novel function(s) for Celsr1 protein. Mol. Cell. Neurosci. 44, 210-222.
    • (2010) Mol. Cell. Neurosci. , vol.44 , pp. 210-222
    • Formstone, C.J.1    Moxon, C.2    Murdoch, J.3    Little, P.4    Mason, I.5
  • 22
    • 79958014429 scopus 로고    scopus 로고
    • Potential relation of aberrant proteolysis of human protein tyrosine kinase 7 (PTK7) chuzhoi by membrane type 1 matrix metalloproteinase (MT1-MMP) to congenital defects
    • Golubkov, V. S., Aleshin, A. E. and Strongin, A. Y. (2011). Potential relation of aberrant proteolysis of human protein tyrosine kinase 7 (PTK7) chuzhoi by membrane type 1 matrix metalloproteinase (MT1-MMP) to congenital defects. J. Biol. Chem. 286, 20970-20976.
    • (2011) J. Biol. Chem. , vol.286 , pp. 20970-20976
    • Golubkov, V.S.1    Aleshin, A.E.2    Strongin, A.Y.3
  • 23
    • 0031979611 scopus 로고    scopus 로고
    • Abnormalities of floor plate, notochord and somite differentiation in the loop-tail (Lp) mouse: A model of severe neural tube defects
    • Greene, N. D., Gerrelli, D., Van Straaten, H. W. and Copp, A. J. (1998). Abnormalities of floor plate, notochord and somite differentiation in the loop-tail (Lp) mouse: a model of severe neural tube defects. Mech. Dev. 73, 59-72.
    • (1998) Mech. Dev. , vol.73 , pp. 59-72
    • Greene, N.D.1    Gerrelli, D.2    Van Straaten, H.W.3    Copp, A.J.4
  • 24
    • 73949160160 scopus 로고    scopus 로고
    • Genetics of human neural tube defects
    • Greene, N. D., Stanier, P. and Copp, A. J. (2009). Genetics of human neural tube defects. Hum. Mol. Genet. 18 R2, R113-R129.
    • (2009) Hum. Mol. Genet. , vol.18 , pp. R2+R113-R129
    • Greene, N.D.1    Stanier, P.2    Copp, A.J.3
  • 26
    • 33947172588 scopus 로고    scopus 로고
    • Mouse mutants with neural tube closure defects and their role in understanding human neural tube defects
    • Harris, M. J. and Juriloff, D. M. (2007). Mouse mutants with neural tube closure defects and their role in understanding human neural tube defects. Birth Defects Res. A Clin. Mol. Teratol. 79, 187-210.
    • (2007) Birth Defects Res. A Clin. Mol. Teratol. , vol.79 , pp. 187-210
    • Harris, M.J.1    Juriloff, D.M.2
  • 27
    • 77955649698 scopus 로고    scopus 로고
    • An update to the list of mouse mutants with neural tube closure defects and advances toward a complete genetic perspective of neural tube closure
    • Harris, M. J. and Juriloff, D. M. (2010). An update to the list of mouse mutants with neural tube closure defects and advances toward a complete genetic perspective of neural tube closure. Birth Defects Res. A Clin. Mol. Teratol. 88, 653-669.
    • (2010) Birth Defects Res. A Clin. Mol. Teratol. , vol.88 , pp. 653-669
    • Harris, M.J.1    Juriloff, D.M.2
  • 28
    • 84867688062 scopus 로고    scopus 로고
    • A consideration of the evidence that genetic defects in planar cell polarity contribute to the etiology of human neural tube defects
    • Juriloff, D. M. and Harris, M. J. (2012). A consideration of the evidence that genetic defects in planar cell polarity contribute to the etiology of human neural tube defects. Birth Defects Res. A Clin. Mol. Teratol. 94, 824-840.
    • (2012) Birth Defects Res. A Clin. Mol. Teratol. , vol.94 , pp. 824-840
    • Juriloff, D.M.1    Harris, M.J.2
  • 29
    • 42449105756 scopus 로고    scopus 로고
    • The forces that shape embryos: Physical aspects of convergent extension by cell intercalation
    • Keller, R., Shook, D. and Skoglund, P. (2008). The forces that shape embryos: physical aspects of convergent extension by cell intercalation. Phys. Biol. 5, 015007.
    • (2008) Phys. Biol. , vol.5 , pp. 015007
    • Keller, R.1    Shook, D.2    Skoglund, P.3
  • 30
    • 0034931874 scopus 로고    scopus 로고
    • Ltap, a mammalian homolog of Drosophila Strabismus/Van Gogh, is altered in the mouse neural tube mutant Loop-tail
    • Kibar, Z., Vogan, K. J., Groulx, N., Justice, M. J., Underhill, D. A. and Gros, P. (2001). Ltap, a mammalian homolog of Drosophila Strabismus/Van Gogh, is altered in the mouse neural tube mutant Loop-tail. Nat. Genet. 28, 251-255.
    • (2001) Nat. Genet. , vol.28 , pp. 251-255
    • Kibar, Z.1    Vogan, K.J.2    Groulx, N.3    Justice, M.J.4    Underhill, D.A.5    Gros, P.6
  • 34
    • 0016055778 scopus 로고
    • Causation of neural tube defects: Clues from epidemiology
    • Leck, I. (1974). Causation of neural tube defects: clues from epidemiology. Br. Med. Bull. 30, 158-163.
    • (1974) Br. Med. Bull. , vol.30 , pp. 158-163
    • Leck, I.1
  • 35
    • 84861839886 scopus 로고    scopus 로고
    • PTK7 regulates myosin II activity to orient planar polarity in the mammalian auditory epithelium
    • Lee, J., Andreeva, A., Sipe, C. W., Liu, L., Cheng, A. and Lu, X. (2012). PTK7 regulates myosin II activity to orient planar polarity in the mammalian auditory epithelium. Curr. Biol. 22, 956-966.
    • (2012) Curr. Biol. , vol.22 , pp. 956-966
    • Lee, J.1    Andreeva, A.2    Sipe, C.W.3    Liu, L.4    Cheng, A.5    Lu, X.6
  • 36
    • 77953498804 scopus 로고    scopus 로고
    • VANGL2 mutations in human cranial neural-tube defects
    • Lei, Y. P., Zhang, T., Li, H., Wu, B. L., Jin, L. and Wang, H. Y. (2010). VANGL2 mutations in human cranial neural-tube defects. N. Engl. J. Med. 362, 2232-2235.
    • (2010) N. Engl. J. Med. , vol.362 , pp. 2232-2235
    • Lei, Y.P.1    Zhang, T.2    Li, H.3    Wu, B.L.4    Jin, L.5    Wang, H.Y.6
  • 37
    • 0034830917 scopus 로고    scopus 로고
    • Differential expression of two scribble isoforms during Drosophila embryogenesis
    • Li, M., Marhold, J., Gatos, A., Török, I. and Mechler, B. M. (2001). Differential expression of two scribble isoforms during Drosophila embryogenesis. Mech. Dev. 108, 185-190.
    • (2001) Mech. Dev. , vol.108 , pp. 185-190
    • Li, M.1    Marhold, J.2    Gatos, A.3    Török, I.4    Mechler, B.M.5
  • 39
    • 41549086164 scopus 로고    scopus 로고
    • Regulation of cell polarity during epithelial morphogenesis
    • Martin-Belmonte, F. and Mostov, K. (2008). Regulation of cell polarity during epithelial morphogenesis. Curr. Opin. Cell Biol. 20, 227-234.
    • (2008) Curr. Opin. Cell Biol. , vol.20 , pp. 227-234
    • Martin-Belmonte, F.1    Mostov, K.2
  • 42
    • 0035888642 scopus 로고    scopus 로고
    • Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specification
    • Murdoch, J. N., Doudney, K., Paternotte, C., Copp, A. J. and Stanier, P. (2001a). Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specification. Hum. Mol. Genet. 10, 2593-2601.
    • (2001) Hum. Mol. Genet. , vol.10 , pp. 2593-2601
    • Murdoch, J.N.1    Doudney, K.2    Paternotte, C.3    Copp, A.J.4    Stanier, P.5
  • 43
    • 0034756121 scopus 로고    scopus 로고
    • Circletail, a new mouse mutant with severe neural tube defects: Chromosomal localization and interaction with the loop-tail mutation
    • Murdoch, J. N., Rachel, R. A., Shah, S., Beermann, F., Stanier, P., Mason, C. A. and Copp, A. J. (2001b). Circletail, a new mouse mutant with severe neural tube defects: chromosomal localization and interaction with the loop-tail mutation. Genomics 78, 55-63.
    • (2001) Genomics , vol.78 , pp. 55-63
    • Murdoch, J.N.1    Rachel, R.A.2    Shah, S.3    Beermann, F.4    Stanier, P.5    Mason, C.A.6    Copp, A.J.7
  • 45
    • 77955409202 scopus 로고    scopus 로고
    • The novel mouse mutant, chuzhoi, has disruption of Ptk7 protein and exhibits defects in neural tube, heart and lung development and abnormal planar cell polarity in the ear
    • Paudyal, A., Damrau, C., Patterson, V. L., Ermakov, A., Formstone, C., Lalanne, Z., Wells, S., Lu, X., Norris, D. P., Dean, C. H. et al. (2010). The novel mouse mutant, chuzhoi, has disruption of Ptk7 protein and exhibits defects in neural tube, heart and lung development and abnormal planar cell polarity in the ear. BMC Dev. Biol. 10, 87.
    • (2010) BMC Dev. Biol. , vol.10 , pp. 87
    • Paudyal, A.1    Damrau, C.2    Patterson, V.L.3    Ermakov, A.4    Formstone, C.5    Lalanne, Z.6    Wells, S.7    Lu, X.8    Norris, D.P.9    Dean, C.H.10
  • 47
    • 70349157719 scopus 로고    scopus 로고
    • Planar cell polarity cadherin Celsr1 regulates skin hair patterning in the mouse
    • Ravni, A., Qu, Y., Goffinet, A. M. and Tissir, F. (2009). Planar cell polarity cadherin Celsr1 regulates skin hair patterning in the mouse. J. Invest. Dermatol. 129, 2507-2509.
    • (2009) J. Invest. Dermatol. , vol.129 , pp. 2507-2509
    • Ravni, A.1    Qu, Y.2    Goffinet, A.M.3    Tissir, F.4
  • 48
    • 84857782607 scopus 로고    scopus 로고
    • Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis
    • Robinson, A., Escuin, S., Doudney, K., Vekemans, M., Stevenson, R. E., Greene, N. D., Copp, A. J. and Stanier, P. (2012). Mutations in the planar cell polarity genes CELSR1 and SCRIB are associated with the severe neural tube defect craniorachischisis. Hum. Mutat. 33, 440-447.
    • (2012) Hum. Mutat. , vol.33 , pp. 440-447
    • Robinson, A.1    Escuin, S.2    Doudney, K.3    Vekemans, M.4    Stevenson, R.E.5    Greene, N.D.6    Copp, A.J.7    Stanier, P.8
  • 49
    • 79955127220 scopus 로고    scopus 로고
    • Cdx mediates neural tube closure through transcriptional regulation of the planar cell polarity gene Ptk7
    • Savory, J. G., Mansfield, M., Rijli, F. M. and Lohnes, D. (2011). Cdx mediates neural tube closure through transcriptional regulation of the planar cell polarity gene Ptk7. Development 138, 1361-1370.
    • (2011) Development , vol.138 , pp. 1361-1370
    • Savory, J.G.1    Mansfield, M.2    Rijli, F.M.3    Lohnes, D.4
  • 52
    • 0028988719 scopus 로고
    • Genetic basis of neural tube defects: The mouse gene loop-tail maps to a region of chromosome 1 syntenic with human 1q21-q23
    • Stanier, P., Henson, J. N., Eddleston, J., Moore, G. E. and Copp, A. J. (1995). Genetic basis of neural tube defects: the mouse gene loop-tail maps to a region of chromosome 1 syntenic with human 1q21-q23. Genomics 26, 473-478.
    • (1995) Genomics , vol.26 , pp. 473-478
    • Stanier, P.1    Henson, J.N.2    Eddleston, J.3    Moore, G.E.4    Copp, A.J.5
  • 53
    • 34248593138 scopus 로고    scopus 로고
    • Fetal spina bifida in a mouse model: Loss of neural function in utero
    • Stiefel, D., Copp, A. J. and Meuli, M. (2007). Fetal spina bifida in a mouse model: loss of neural function in utero. J. Neurosurg. 106 Suppl., 213-221.
    • (2007) J. Neurosurg. , vol.106 , pp. 213-221
    • Stiefel, D.1    Copp, A.J.2    Meuli, M.3
  • 55
    • 33645637038 scopus 로고    scopus 로고
    • The role of Frizzled3 and Frizzled6 in neural tube closure and in the planar polarity of inner-ear sensory hair cells
    • Wang, Y., Guo, N. and Nathans, J. (2006b). The role of Frizzled3 and Frizzled6 in neural tube closure and in the planar polarity of inner-ear sensory hair cells. J. Neurosci. 26, 2147-2156.
    • (2006) J. Neurosci. , vol.26 , pp. 2147-2156
    • Wang, Y.1    Guo, N.2    Nathans, J.3
  • 56
    • 80052038817 scopus 로고    scopus 로고
    • Roles of planar cell polarity pathways in the development of neural [correction of neutral] tube defects
    • Wu, G., Huang, X., Hua, Y. and Mu, D. (2011). Roles of planar cell polarity pathways in the development of neural [correction of neutral] tube defects. J. Biomed. Sci. 18, 66.
    • (2011) J. Biomed. Sci. , vol.18 , pp. 66
    • Wu, G.1    Huang, X.2    Hua, Y.3    Mu, D.4
  • 57
    • 84868639059 scopus 로고    scopus 로고
    • Dishevelled: In vivo roles of a multifunctional gene family during development
    • Wynshaw-Boris, A. (2012). Dishevelled: in vivo roles of a multifunctional gene family during development. Curr. Top. Dev. Biol. 101, 213-235.
    • (2012) Curr. Top. Dev. Biol. , vol.101 , pp. 213-235
    • Wynshaw-Boris, A.1
  • 58
    • 84880508641 scopus 로고    scopus 로고
    • Mutations in the COPII vesicle component gene SEC24B are associated with human neural tube defects
    • Yang, X. Y., Zhou, X. Y., Wang, Q. Q., Li, H., Chen, Y., Lei, Y. P., Ma, X. H., Kong, P., Shi, Y., Jin, L. et al. (2013). Mutations in the COPII vesicle component gene SEC24B are associated with human neural tube defects. Hum. Mutat. 34, 1094-1101.
    • (2013) Hum. Mutat. , vol.34 , pp. 1094-1101
    • Yang, X.Y.1    Zhou, X.Y.2    Wang, Q.Q.3    Li, H.4    Chen, Y.5    Lei, Y.P.6    Ma, X.H.7    Kong, P.8    Shi, Y.9    Jin, L.10
  • 59
    • 84857437414 scopus 로고    scopus 로고
    • Comparison of phenotypes between different vangl2 mutants demonstrates dominant effects of the Looptail mutation during hair cell development
    • Yin, H., Copley, C. O., Goodrich, L. V. and Deans, M. R. (2012). Comparison of phenotypes between different vangl2 mutants demonstrates dominant effects of the Looptail mutation during hair cell development. PLoS ONE 7, e31988.
    • (2012) PLoS ONE , vol.7 , pp. e31988
    • Yin, H.1    Copley, C.O.2    Goodrich, L.V.3    Deans, M.R.4


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