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 Developmental Biology

Volumn 10, Issue , 2010, Pages

  Paudyal, Anju ^a   Damrau, Christine ^a   Patterson, Victoria L ^a   Ermakov, Alexander ^a,b   Formstone, Caroline ^c   Lalanne, Zuzanna ^a,d   Wells, Sara ^a   Lu, Xiaowei ^e   Norris, Dominic P ^a   Dean, Charlotte H ^a   Henderson, Deborah J ^f   Murdoch, Jennifer N ^a,g  

^a MRC MAMMALIAN GENETICS UNIT   (United Kingdom)

^b UNIVERSITY OF EDINBURGH   (United Kingdom)

^c KING'S COLLEGE LONDON   (United Kingdom)

^d Harwell Science and Innovation Campus   (United Kingdom)

^e UNIVERSITY OF VIRGINIA HEALTH SYSTEM   (United States)

^f NEWCASTLE UNIVERSITY   (United Kingdom)

^g UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CELSR1 PROTEIN, MOUSE; ETHYLNITROSOUREA; G PROTEIN COUPLED RECEPTOR; LTAP PROTEIN, MOUSE; NERVE PROTEIN; PROTEIN TYROSINE KINASE; PTK7 PROTEIN, MOUSE;

ANIMAL; ARTICLE; CELL POLARITY; CONGENITAL HEART MALFORMATION; CONGENITAL MALFORMATION; CYTOLOGY; DISEASE MODEL; GENE EXPRESSION REGULATION; GENETICS; HUMAN; INNER EAR; LUNG; MOUSE; NEURAL CREST; NEURAL TUBE DEFECT; PATHOLOGY; PRENATAL DEVELOPMENT; SIGNAL TRANSDUCTION;

ANIMALS; CELL POLARITY; DISEASE MODELS, ANIMAL; EAR, INNER; ETHYLNITROSOUREA; HEART DEFECTS, CONGENITAL; HUMANS; LUNG; MICE; MUTAGENESIS, INSERTIONAL; NERVE TISSUE PROTEINS; NEURAL CREST; NEURAL TUBE DEFECTS; RECEPTOR PROTEIN-TYROSINE KINASES; RECEPTORS, G-PROTEIN-COUPLED; SIGNAL TRANSDUCTION;

EID: 77955409202     PISSN: None     EISSN: 1471213X     Source Type: Journal    
DOI: 10.1186/1471-213X-10-87     Document Type: Article

References (72)

1. EUROCAT Final Activity Report to European Commission March 2004 to August 2007. http://www.eurocat-network.eu/
2. The embryonic development of mammalian neural tube defects. AJ Copp FA Brook JP Estibeiro ASW Shum DL Cockroft, Progress in Neurobiology 1990 35 363 403 10.1016/0301-0082(90)90037-H 2263736
3. Elevated rates of severe neural tube defects in a high-prevalence area in northern China. CA Moore S Li Z Li SX Hong HQ Gu RJ Berry J Mulinare JD Erickson, Am J Med Genet 1997 73 113 118 10.1002/(SICI)1096-8628(19971212)73: 2<113::AID-AJMG23.0.CO;2-V 9409858
4. Mouse mutants with neural tube closure defects and their role in understanding human neural tube defects. MJ Harris DM Juriloff, Birth Defects Res A Clin Mol Teratol 2007 79 187 210 10.1002/bdra.20333 17177317
5. Ltap, a mammalian homolog of Drosophila Strabismus/Van Gogh, is altered in the mouse neural tube mutant Loop-tail. Z Kibar KJ Vogan N Groulx MJ Justice DA Underhill P Gros, Nature Genetics 2001 28 251 255 10.1038/90081 11431695
6. Severe neural tube defects in the loop-tail mouse result from mutation of Lpp1, a novel gene involved in floor plate specification. JN Murdoch K Doudney C Paternotte AJ Copp P Stanier, Human Molecular Genetics 2001 10 2593 2601 10.1093/hmg/10.22.2593 11709546
7. Mutation of Celsr1 disrupts planar polarity of inner ear hair cells and causes severe neural tube defects in the mouse. JA Curtin E Quint V Tsipouri R Arkell B Cattanach AJ Copp DJ Henderson N Spurr P Stanier EM Fisher, et al. Current Biology 2003 13 1 20 10.1016/S0960-9822(03)00374-9 12526738
8. The role of Frizzled3 and Frizzled6 in neural tube closure and in the planar polarity of inner-ear sensory hair cells. Y Wang N Guo J Nathans, Journal of Neuroscience 2006 26 2147 2156 10.1523/JNEUROSCI.4698-05.2005 16495441
9. Dishevelled 2 is essential for cardiac outflow tract development, somite segmentation and neural tube closure. NS Hamblet N Lijam P Ruiz-Lozano J Wang Y Yang Z Luo L Mei KR Chien DJ Sussman A Wynshaw-Boris, Development 2002 129 5827 5838 10.1242/dev.00164 12421720
10. Genetic interaction between members of the Vangl family causes neural tube defects in mice. E Torban AM Patenaude S Leclerc S Rakowiecki S Gauthier G Andelfinger DJ Epstein P Gros, Proc Natl Acad Sci USA 2008 105 3449 3454 10.1073/pnas.0712126105 18296642
11. Murine dishevelled 3 functions in redundant pathways with dishevelled 1 and 2 in normal cardiac outflow tract, cochlea, and neural tube development. SL Etheridge S Ray S Li NS Hamblet N Lijam M Tsang J Greer N Kardos J Wang DJ Sussman, et al. PLoS Genet 2008 4 1000 259 10.1371/journal.pgen.1000259
12. Dishevelled genes mediate a conserved mammalian PCP pathway to regulate convergent extension during neurulation. J Wang NS Hamblet S Mark ME Dickinson BC Brinkman N Segil SE Fraser P Chen JB Wallingford A Wynshaw-Boris, Development 2006 133 1767 1778 10.1242/dev.02347 16571627
13. Identification of Vangl2 and Scrb1 as planar polarity genes in mammals. M Montcouquiol RA Rachel PJ Lanford NG Copeland NA Jenkins MW Kelley, Nature 2003 423 173 177 10.1038/nature01618 12724779
14. Tissue/planar cell polarity in vertebrates: new insights and new questions. Y Wang J Nathans, Development (Cambridge, England) 2007 134 647 658 17259302
15. Planar polarization in embryonic epidermis orchestrates global asymmetric morphogenesis of hair follicles. D Devenport E Fuchs, Nature cell biology 2008 10 1257 1268 10.1038/ncb1784 18849982
16. Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse. JN Murdoch DJ Henderson K Doudney C Gaston-Massuet HM Phillips C Paternotte R Arkell P Stanier AJ Copp, Human Molecular Genetics 2003 12 87 98 10.1093/hmg/ddg014 12499390
17. Circletail, a new mouse mutant with severe neural tube defects: Chromosomal localization and interaction with the loop-tail mutation. JN Murdoch RA Rachel S Shah F Beermann P Stanier CA Mason AJ Copp, Genomics 2001 78 55 63 10.1006/geno.2001.6638 11707073
18. Asymmetric localization of Vangl2 and Fz3 indicate novel mechanisms for planar cell polarity in mammals. M Montcouquiol N Sans D Huss J Kach JD Dickman A Forge RA Rachel NG Copeland NA Jenkins D Bogani, et al. Journal of Neuroscience 2006 26 5265 5275 10.1523/JNEUROSCI.4680-05.2006 16687519
19. Scribble associates with two polarity proteins, Lgl2 and Vangl2, via distinct molecular domains. LM Kallay A McNickle PJ Brennwald AL Hubbard LT Braiterman, JCell Biochem 2006 99 647 664
20. The apical/basal-polarity determinant Scribble cooperates with the PCP core factor Stbm/Vang and functions as one of its effectors. JR Courbard A Djiane J Wu M Mlodzik, Dev Biol 2009 333 67 77 10.1016/j.ydbio.2009.06.024 19563796
21. PTK7/CCK-4 is a novel regulator of planar cell polarity in vertebrates. X Lu AG Borchers C Jolicoeur H Rayburn JC Baker M Tessier-Lavigne, Nature 2004 430 93 98 10.1038/nature02677 15229603
22. PTK7 recruits dsh to regulate neural crest migration. I Shnitsar A Borchers, Development (Cambridge, England) 2008 135 4015 4024 19004858
23. Sec24b selectively sorts Vangl2 to regulate planar cell polarity during neural tube closure. J Merte D Jensen K Wright S Sarsfield Y Wang R Schekman DD Ginty, Nature cell biology 2010 12 41 46 sup pp 41-48 10.1038/ncb2002 19966784
24. Planar cell polarity defects and defective Vangl2 trafficking in mutants for the COPII gene Sec24b. C Wansleeben H Feitsma M Montcouquiol C Kroon E Cuppen F Meijlink, Development (Cambridge, England) 2010 137 1067 1073 20215345
25. Mouse mutagenesis identifies novel roles for left-right patterning genes in pulmonary, craniofacial, ocular, and limb development. A Ermakov JL Stevens E Whitehill JE Robson G Pieles D Brooker P Goggolidou N Powles-Glover T Hacker SR Young, et al. Dev Dyn 2009 238 581 594 10.1002/dvdy.21874 19235720
26. Abnormalities of floor plate, notochord and somite differentiation in the loop-tail (Lp) mouse: a model of severe neural tube defects. ND Greene D Gerrelli HW Van Straaten AJ Copp, Mechanisms of Development 1998 73 59 72 10.1016/S0925-4773(98)00029-X 9545534
27. Convergent extension, planar-cell-polarity signalling and initiation of mouse neural tube closure. P Ybot-Gonzalez D Savery D Gerrelli M Signore CE Mitchell CH Faux ND Greene AJ Copp, Development 2007 134 789 799 10.1242/dev.000380 17229766
28. PTK7 is essential for polarized cell motility and convergent extension during mouse gastrulation. WW Yen M Williams A Periasamy M Conaway C Burdsal R Keller X Lu A Sutherland, Development (Cambridge, England) 2009 136 2039 2048 19439496
29. The PCP genes Celsr1 and Vangl2 are required for normal lung branching morphogenesis. LL Yates C Schnatwinkel JN Murdoch D Bogani CJ Formstone S Townsend A Greenfield LA Niswander CH Dean, Human molecular genetics 2010 19 2251 2267 10.1093/hmg/ddq104 20223754
30. Cardiovascular defects associated with abnormalities in midline development in the loop-tail mouse mutant. DJ Henderson SJ Conway NDE Greene D Gerrelli JN Murdoch RH Anderson AJ Copp, Circulation Research 2001 89 6 12 10.1161/hh1301.092497 11440971
31. Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model. EM Southard-Smith L Kos WJ Pavan, Nature genetics 1998 18 60 64 10.1038/ng0198-60 9425902
32. Retinal axon misrouting at the optic chiasm in mice with neural tube closure defects. RA Rachel JN Murdoch F Beermann AJ Copp CA Mason, Genesis 2000 27 32 47 10.1002/1526-968X(200005)27:1<32::AID-GENE503.0.CO;2-T 10862153
33. Comprehensive splice-site analysis using comparative genomics. N Sheth X Roca ML Hastings T Roeder AR Krainer R Sachidanandam, Nucleic Acids Res 2006 34 3955 3967 10.1093/nar/gkl556 16914448
34. Cloning and characterization of the full-length mouse Ptk7 cDNA encoding a defective receptor protein tyrosine kinase. JW Jung WS Shin J Song ST Lee, Gene 2004 328 75 84 10.1016/j.gene.2003.12.006 15019986
35. Wnt5a functions in planar cell polarity regulation in mice. D Qian C Jones A Rzadzinska S Mark X Zhang KP Steel X Dai P Chen, Developmental Biology 2007 306 121 133 10.1016/j.ydbio.2007.03.011 17433286
36. A focused and efficient genetic screening strategy in the mouse: identification of mutations that disrupt cortical development. K Zarbalis SR May Y Shen M Ekker JL Rubenstein AS Peterson, PLoSBiol 2004 2 219
37. Sfrp1, Sfrp2, and Sfrp5 regulate the Wnt/beta-catenin and the planar cell polarity pathways during early trunk formation in mouse. W Satoh M Matsuyama H Takemura S Aizawa A Shimono, Genesis (New York, N Y: 2000) 2008 46 92 103 18257070
38. Regulation of planar cell polarity by Smurf ubiquitin ligases. M Narimatsu R Bose M Pye L Zhang B Miller P Ching R Sakuma V Luga L Roncari L Attisano JL Wrana, Cell 2009 137 295 307 10.1016/j.cell.2009.02.025 19379695
39. Zic2 and Zic3 synergistically control neurulation and segmentation of paraxial mesoderm in mouse embryo. T Inoue M Ota K Mikoshiba J Aruga, Developmental biology 2007 306 669 684 10.1016/j.ydbio.2007.04.003 17490632
40. Chato, a KRAB zinc-finger protein, regulates convergent extension in the mouse embryo. MJ Garcia-Garcia M Shibata KV Anderson, Development 2008 135 3053 3062 10.1242/dev.022897 18701545
41. The genetic basis of mammalian neurulation. AJ Copp ND Greene JN Murdoch, Nature Reviews Genetics 2003 4 784 793 10.1038/nrg1181 13679871
42. The planar cell polarity gene strabismus regulates convergence and extension and neural fold closure in Xenopus. T Goto R Keller, Developmental Biology 2002 247 165 181 10.1006/dbio.2002.0673 12074560
43. Frizzled signalling and cell polarisation in Drosophila and vertebrates. D Strutt, Development 2003 130 4501 4513 10.1242/dev.00695 12925579
44. Live imaging and genetic analysis of mouse notochord formation reveals regional morphogenetic mechanisms. Y Yamanaka OJ Tamplin A Beckers A Gossler J Rossant, Dev Cell 2007 13 884 896 10.1016/j.devcel.2007.10.016 18061569
45. Regulation of polarized extension and planar cell polarity in the cochlea by the vertebrate PCP pathway. J Wang S Mark X Zhang D Qian SJ Yoo K Radde-Gallwitz Y Zhang X Lin A Collazo A Wynshaw-Boris P Chen, Nature genetics 2005 37 980 985 10.1038/ng1622 16116426
46. Vangl2 acts via RhoA signaling to regulate polarized cell movements during development of the proximal outflow tract. HM Phillips JN Murdoch B Chaudhry AJ Copp DJ Henderson, Circulation research 2005 96 292 299 10.1161/01.RES.0000154912.08695.88 15637299
47. Disruption of planar cell polarity signaling results in congenital heart defects and cardiomyopathy attributable to early cardiomyocyte disorganization. HM Phillips HJ Rhee JN Murdoch V Hildreth JD Peat RH Anderson AJ Copp B Chaudhry DJ Henderson, Circulation Research 2007 101 137 145 10.1161/CIRCRESAHA.106. 142406 17556662
48. Dual roles of Sema6D in cardiac morphogenesis through region-specific association of its receptor, Plexin-A1, with off-track and vascular endothelial growth factor receptor type 2. T Toyofuku H Zhang A Kumanogoh N Takegahara F Suto J Kamei K Aoki M Yabuki M Hori H Fujisawa H Kikutani, Genes Dev 2004 18 435 447 10.1101/gad.1167304 14977921
49. Cardiac outflow tract: a review of some embryogenetic aspects of the conotruncal region of the heart. A Restivo G Piacentini S Placidi C Saffirio B Marino, Anat Rec A Discov Mol Cell Evol Biol 2006 288 936 943 16892424
50. Rotation of the myocardial wall of the outflow tract is implicated in the normal positioning of the great arteries. F Bajolle S Zaffran RG Kelly J Hadchouel D Bonnet NA Brown ME Buckingham, Circulation research 2006 98 421 428 10.1161/01.RES.0000202800.85341.6e 16397144
51. Vang-like 2 and noncanonical Wnt signaling in outflow tract development. DJ Henderson HM Phillips B Chaudhry, Trends Cardiovasc Med 2006 16 38 45 10.1016/j.tcm.2005.11.005 16473760
52. The orphan G protein-coupled receptor, Gpr161, encodes the vacuolated lens locus and controls neurulation and lens development. PG Matteson J Desai R Korstanje G Lazar TE Borsuk J Rollins S Kadambi J Joseph T Rahman J Wink, et al. Proceedings of the National Academy of Sciences of the United States of America 2008 105 2088 2093 10.1073/pnas.0705657105 18250320
53. Independent mutations in mouse Vangl2 that cause neural tube defects in looptail mice impair interaction with members of the Dishevelled family. E Torban HJ Wang N Groulx P Gros, Journal of Biological Chemistry 2004 279 52703 52713 10.1074/jbc.M408675200 15456783
54. Developmental basis of severe neural tube defects in the loop-tail (Lp) mutant mouse: Use of microsatellite DNA markers to identify embryonic genotype. AJ Copp I Checiu JN Henson, Developmental Biology 1994 165 20 29 10.1006/dbio.1994.1230 8088438
55. Colon carcinoma kinase-4 defines a new subclass of the receptor tyrosine kinase family. K Mossie B Jallal F Alves I Sures GD Plowman A Ullrich, Oncogene 1995 11 2179 2184 7478540
56. Characterization of the human full-length PTK7 cDNA encoding a receptor protein tyrosine kinase-like molecule closely related to chick KLG. SK Park HS Lee ST Lee, JBiochem(Tokyo) 1996 119 235 239
57. Emerging roles of pseudokinases. J Boudeau D Miranda-Saavedra GJ Barton DR Alessi, Trends in Cell Biology 2006 16 443 452 10.1016/j.tcb.2006.07.003 16879967
58. Lemon encodes an unusual receptor protein-tyrosine kinase expressed during gametogenesis in Hydra. MA Miller RE Steele, Developmental biology 2000 224 286 298 10.1006/dbio.2000.9786 10926767
59. Characterization of a member of the immunoglobulin gene superfamily that possibly represents an additional class of growth factor receptor. YH Chou MJ Hayman, Proceedings of the National Academy of Sciences of the United States of America 1991 88 4897 4901 10.1073/pnas.88.11.4897 1711213
60. Dtrk, a Drosophila gene related to the trk family of neurotrophin receptors, encodes a novel class of neural cell adhesion molecule. D Pulido S Campuzano T Koda J Modolell M Barbacid, The EMBO journal 1992 11 391 404 1371458
61. The GxxxG-containing transmembrane domain of the CCK4 oncogene does not encode preferential self-interactions. FJ Kobus KG Fleming, Biochemistry 2005 44 1464 1470 10.1021/bi048076l 15683231
62. Organization of the human PTK7 gene encoding a receptor protein tyrosine kinase-like molecule and alternative splicing of its mRNA. JW Jung AR Ji J Lee UJ Kim ST Lee, Biochimica et Biophysica Acta 2002 1579 153 163 12427550
63. Soluble PTK7 inhibits tube formation, migration, and invasion of endothelial cells and angiogenesis. WS Shin YS Maeng JW Jung JK Min YG Kwon ST Lee, Biochem Biophys Res Commun 2008 371 793 798 10.1016/j.bbrc.2008.04.168 18471990
64. Tumour necrosis factor alpha-converting enzyme mediates ectodomain shedding of Vps10p-domain receptor family members. G Hermey SS Sjogaard CM Petersen A Nykjaer J Gliemann, Biochem J 2006 395 285 293 10.1042/BJ20051364 16393139
65. Tumor necrosis factor-alpha-converting enzyme is required for cleavage of erbB4/HER4. C Rio JD Buxbaum JJ Peschon G Corfas, J Biol Chem 2000 275 10379 10387 10.1074/jbc.275.14.10379 10744726
66. The epidermal growth factor receptor ligands at a glance. MR Schneider E Wolf, J Cell Physiol 2009 218 460 466 10.1002/jcp.21635 19006176
67. Shedding light on ADAM metalloproteinases. APJ Huovila AJ Turner M Pelto-Huikko I Karkkainen RM Ortiz, Trends Biochem Sci 2005 30 413 422 10.1016/j.tibs.2005.05.006 15949939
68. (Make) stick and cut loose - disintegrin metalloproteases in development and disease. T Tousseyn E Jorissen K Reiss D Hartmann, Birth Defects Res C Embryo Today 2006 78 24 46 10.1002/bdrc.20066 16622847
69. DG Wilkinson, In Situ Hybridisation: A Practical Approach Oxford: IRL Press 1992
70. Sequence and expression analysis of Nhlh1: a basic helix-loop-helix gene implicated in neurogenesis. JN Murdoch J Eddleston N Leblond-Bourget P Stanier AJ Copp, Developmental Genetics 1999 24 165 177 10.1002/(SICI)1520-6408(1999)24: 1/2<165::AID-DVG153.0.CO;2-V 10079519
71. Basal enrichment within neuroepithelia suggests novel function(s) for Celsr1 protein. CJ Formstone C Moxon J Murdoch P Little I Mason, Mol Cell Neurosci 2010 44 210 222 10.1016/j.mcn.2010.03.008 20353824
72. hScrib is a functional homologue of the Drosophila tumour suppressor Scribble. LE Dow AM Brumby R Muratore ML Coombe KA Sedelies JA Trapani SM Russell HE Richardson PO Humbert, Oncogene 2003 22 9225 9230 10.1038/sj.onc.1207154 14681682