Mutation of Celsr1 Disrupts Planar Polarity of Inner Ear Hair Cells and Causes Severe Neural Tube Defects in the Mouse
We identified two novel mouse mutants with abnormal head-shaking behavior and neural tube defects during the course of independent ENU mutagenesis experiments. The heterozygous and homozygous mutants exhibit defects in the orientation of sensory hair cells in the organ of Corti, indicating a defect...
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| Veröffentlicht in: | Current biology 2003-07, Vol.13 (13), p.1129-1133 |
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| creator | Curtin, John A. Quint, Elizabeth Tsipouri, Vicky Arkell, Ruth M. Cattanach, Bruce Copp, Andrew J. Henderson, Deborah J. Spurr, Nigel Stanier, Philip Fisher, Elizabeth M. Nolan, Patrick M. Steel, Karen P. Brown, Steve D.M. Gray, Ian C. Murdoch, Jennifer N. |
| description | We identified two novel mouse mutants with abnormal head-shaking behavior and neural tube defects during the course of independent ENU mutagenesis experiments. The heterozygous and homozygous mutants exhibit defects in the orientation of sensory hair cells in the organ of Corti, indicating a defect in planar cell polarity. The homozygous mutants exhibit severe neural tube defects as a result of failure to initiate neural tube closure. We show that these mutants, spin cycle and crash, carry independent missense mutations within the coding region of Celsr1, encoding a large protocadherin molecule [1]. Celsr1 is one of three mammalian homologs of Drosophila flamingo/starry night, which is essential for the planar cell polarity pathway in Drosophila together with frizzled, dishevelled, prickle, strabismus/van gogh, and rhoA[2, 3]. The identification of mouse mutants of Celsr1 provides the first evidence for the function of the Celsr family in planar cell polarity in mammals and further supports the involvement of a planar cell polarity pathway in vertebrate neurulation. |
| doi_str_mv | 10.1016/S0960-9822(03)00374-9 |
| format | Article |
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The heterozygous and homozygous mutants exhibit defects in the orientation of sensory hair cells in the organ of Corti, indicating a defect in planar cell polarity. The homozygous mutants exhibit severe neural tube defects as a result of failure to initiate neural tube closure. We show that these mutants, spin cycle and crash, carry independent missense mutations within the coding region of Celsr1, encoding a large protocadherin molecule [1]. Celsr1 is one of three mammalian homologs of Drosophila flamingo/starry night, which is essential for the planar cell polarity pathway in Drosophila together with frizzled, dishevelled, prickle, strabismus/van gogh, and rhoA[2, 3]. The identification of mouse mutants of Celsr1 provides the first evidence for the function of the Celsr family in planar cell polarity in mammals and further supports the involvement of a planar cell polarity pathway in vertebrate neurulation.</description><identifier>ISSN: 0960-9822</identifier><identifier>EISSN: 1879-0445</identifier><identifier>DOI: 10.1016/S0960-9822(03)00374-9</identifier><identifier>PMID: 12842012</identifier><language>eng</language><publisher>England: Elsevier Inc</publisher><subject>Animals ; Cell Polarity - genetics ; Cell Polarity - physiology ; Chromosome Mapping ; Hair Cells, Auditory, Inner - physiopathology ; Hair Cells, Auditory, Inner - ultrastructure ; In Situ Hybridization ; Mice ; Microscopy, Electron, Scanning ; Mutation, Missense - genetics ; Neural Tube Defects - physiopathology ; Receptors, G-Protein-Coupled - genetics ; Sequence Analysis, DNA ; Signal Transduction - physiology</subject><ispartof>Current biology, 2003-07, Vol.13 (13), p.1129-1133</ispartof><rights>2003 Cell Press</rights><lds50>peer_reviewed</lds50><oa>free_for_read</oa><woscitedreferencessubscribed>false</woscitedreferencessubscribed><citedby>FETCH-LOGICAL-c559t-90d0ffce57eef31eaa7e190f90d0adc9f34c80fe15fd5e836c8e8281fd4aaf893</citedby><cites>FETCH-LOGICAL-c559t-90d0ffce57eef31eaa7e190f90d0adc9f34c80fe15fd5e836c8e8281fd4aaf893</cites></display><links><openurl>$$Topenurl_article</openurl><openurlfulltext>$$Topenurlfull_article</openurlfulltext><thumbnail>$$Tsyndetics_thumb_exl</thumbnail><linktohtml>$$Uhttps://www.sciencedirect.com/science/article/pii/S0960982203003749$$EHTML$$P50$$Gelsevier$$Hfree_for_read</linktohtml><link.rule.ids>314,776,780,3537,27901,27902,65306</link.rule.ids><backlink>$$Uhttps://www.ncbi.nlm.nih.gov/pubmed/12842012$$D View this record in MEDLINE/PubMed$$Hfree_for_read</backlink></links><search><creatorcontrib>Curtin, John A.</creatorcontrib><creatorcontrib>Quint, Elizabeth</creatorcontrib><creatorcontrib>Tsipouri, Vicky</creatorcontrib><creatorcontrib>Arkell, Ruth M.</creatorcontrib><creatorcontrib>Cattanach, Bruce</creatorcontrib><creatorcontrib>Copp, Andrew J.</creatorcontrib><creatorcontrib>Henderson, Deborah J.</creatorcontrib><creatorcontrib>Spurr, Nigel</creatorcontrib><creatorcontrib>Stanier, Philip</creatorcontrib><creatorcontrib>Fisher, Elizabeth M.</creatorcontrib><creatorcontrib>Nolan, Patrick M.</creatorcontrib><creatorcontrib>Steel, Karen P.</creatorcontrib><creatorcontrib>Brown, Steve D.M.</creatorcontrib><creatorcontrib>Gray, Ian C.</creatorcontrib><creatorcontrib>Murdoch, Jennifer N.</creatorcontrib><title>Mutation of Celsr1 Disrupts Planar Polarity of Inner Ear Hair Cells and Causes Severe Neural Tube Defects in the Mouse</title><title>Current biology</title><addtitle>Curr Biol</addtitle><description>We identified two novel mouse mutants with abnormal head-shaking behavior and neural tube defects during the course of independent ENU mutagenesis experiments. The heterozygous and homozygous mutants exhibit defects in the orientation of sensory hair cells in the organ of Corti, indicating a defect in planar cell polarity. The homozygous mutants exhibit severe neural tube defects as a result of failure to initiate neural tube closure. We show that these mutants, spin cycle and crash, carry independent missense mutations within the coding region of Celsr1, encoding a large protocadherin molecule [1]. Celsr1 is one of three mammalian homologs of Drosophila flamingo/starry night, which is essential for the planar cell polarity pathway in Drosophila together with frizzled, dishevelled, prickle, strabismus/van gogh, and rhoA[2, 3]. The identification of mouse mutants of Celsr1 provides the first evidence for the function of the Celsr family in planar cell polarity in mammals and further supports the involvement of a planar cell polarity pathway in vertebrate neurulation.</description><subject>Animals</subject><subject>Cell Polarity - genetics</subject><subject>Cell Polarity - physiology</subject><subject>Chromosome Mapping</subject><subject>Hair Cells, Auditory, Inner - physiopathology</subject><subject>Hair Cells, Auditory, Inner - ultrastructure</subject><subject>In Situ Hybridization</subject><subject>Mice</subject><subject>Microscopy, Electron, Scanning</subject><subject>Mutation, Missense - genetics</subject><subject>Neural Tube Defects - physiopathology</subject><subject>Receptors, G-Protein-Coupled - genetics</subject><subject>Sequence Analysis, DNA</subject><subject>Signal Transduction - physiology</subject><issn>0960-9822</issn><issn>1879-0445</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2003</creationdate><recordtype>article</recordtype><sourceid>EIF</sourceid><recordid>eNqFkE1LAzEQhoMotlZ_gpKT6GE12c_kJLKtttBqofUc0uwEI9vdmuwW-u_NtkWPnoYZnpl3eBC6puSBEpo-LghPScBZGN6R6J6QKIsDfoL6lGU8IHGcnKL-L9JDF859EUJDxtNz1PM1Dn3XR9tZ28jG1BWuNc6hdJbioXG23TQOz0tZSYvndSmtaXYdMqkqsHjkp2NpbLdROiyrAueydeDwArZgAb9Ba2WJl-0K8BA0KH_NVLj5BDyrPXiJzrQsHVwd6wB9vIyW-TiYvr9O8udpoJKENwEnBdFaQZIB6IiClBlQTnQ3l4XiOooVIxpooosEWJQqBixkVBexlJrxaIBuD3c3tv5uwTVibZzyT8sK_B-CMsZ5GIYeTA6gsrVzFrTYWLOWdicoEZ1wsRcuOpuCRGIvXHQBN8eAdrWG4m_raNgDTwfAu4WtASucMlApKIz1WkRRm38ifgBzKJD4</recordid><startdate>20030701</startdate><enddate>20030701</enddate><creator>Curtin, John A.</creator><creator>Quint, Elizabeth</creator><creator>Tsipouri, Vicky</creator><creator>Arkell, Ruth M.</creator><creator>Cattanach, Bruce</creator><creator>Copp, Andrew J.</creator><creator>Henderson, Deborah J.</creator><creator>Spurr, Nigel</creator><creator>Stanier, Philip</creator><creator>Fisher, Elizabeth M.</creator><creator>Nolan, Patrick M.</creator><creator>Steel, Karen P.</creator><creator>Brown, Steve D.M.</creator><creator>Gray, Ian C.</creator><creator>Murdoch, Jennifer N.</creator><general>Elsevier Inc</general><scope>6I.</scope><scope>AAFTH</scope><scope>CGR</scope><scope>CUY</scope><scope>CVF</scope><scope>ECM</scope><scope>EIF</scope><scope>NPM</scope><scope>AAYXX</scope><scope>CITATION</scope><scope>8FD</scope><scope>FR3</scope><scope>P64</scope><scope>RC3</scope></search><sort><creationdate>20030701</creationdate><title>Mutation of Celsr1 Disrupts Planar Polarity of Inner Ear Hair Cells and Causes Severe Neural Tube Defects in the Mouse</title><author>Curtin, John A. ; Quint, Elizabeth ; Tsipouri, Vicky ; Arkell, Ruth M. ; Cattanach, Bruce ; Copp, Andrew J. ; Henderson, Deborah J. ; Spurr, Nigel ; Stanier, Philip ; Fisher, Elizabeth M. ; Nolan, Patrick M. ; Steel, Karen P. ; Brown, Steve D.M. ; Gray, Ian C. ; Murdoch, Jennifer N.</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c559t-90d0ffce57eef31eaa7e190f90d0adc9f34c80fe15fd5e836c8e8281fd4aaf893</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2003</creationdate><topic>Animals</topic><topic>Cell Polarity - genetics</topic><topic>Cell Polarity - physiology</topic><topic>Chromosome Mapping</topic><topic>Hair Cells, Auditory, Inner - physiopathology</topic><topic>Hair Cells, Auditory, Inner - ultrastructure</topic><topic>In Situ Hybridization</topic><topic>Mice</topic><topic>Microscopy, Electron, Scanning</topic><topic>Mutation, Missense - genetics</topic><topic>Neural Tube Defects - physiopathology</topic><topic>Receptors, G-Protein-Coupled - genetics</topic><topic>Sequence Analysis, DNA</topic><topic>Signal Transduction - physiology</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Curtin, John A.</creatorcontrib><creatorcontrib>Quint, Elizabeth</creatorcontrib><creatorcontrib>Tsipouri, Vicky</creatorcontrib><creatorcontrib>Arkell, Ruth M.</creatorcontrib><creatorcontrib>Cattanach, Bruce</creatorcontrib><creatorcontrib>Copp, Andrew J.</creatorcontrib><creatorcontrib>Henderson, Deborah J.</creatorcontrib><creatorcontrib>Spurr, Nigel</creatorcontrib><creatorcontrib>Stanier, Philip</creatorcontrib><creatorcontrib>Fisher, Elizabeth M.</creatorcontrib><creatorcontrib>Nolan, Patrick M.</creatorcontrib><creatorcontrib>Steel, Karen P.</creatorcontrib><creatorcontrib>Brown, Steve D.M.</creatorcontrib><creatorcontrib>Gray, Ian C.</creatorcontrib><creatorcontrib>Murdoch, Jennifer N.</creatorcontrib><collection>ScienceDirect Open Access Titles</collection><collection>Elsevier:ScienceDirect:Open Access</collection><collection>Medline</collection><collection>MEDLINE</collection><collection>MEDLINE (Ovid)</collection><collection>MEDLINE</collection><collection>MEDLINE</collection><collection>PubMed</collection><collection>CrossRef</collection><collection>Technology Research Database</collection><collection>Engineering Research Database</collection><collection>Biotechnology and BioEngineering Abstracts</collection><collection>Genetics Abstracts</collection><jtitle>Current biology</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Curtin, John A.</au><au>Quint, Elizabeth</au><au>Tsipouri, Vicky</au><au>Arkell, Ruth M.</au><au>Cattanach, Bruce</au><au>Copp, Andrew J.</au><au>Henderson, Deborah J.</au><au>Spurr, Nigel</au><au>Stanier, Philip</au><au>Fisher, Elizabeth M.</au><au>Nolan, Patrick M.</au><au>Steel, Karen P.</au><au>Brown, Steve D.M.</au><au>Gray, Ian C.</au><au>Murdoch, Jennifer N.</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Mutation of Celsr1 Disrupts Planar Polarity of Inner Ear Hair Cells and Causes Severe Neural Tube Defects in the Mouse</atitle><jtitle>Current biology</jtitle><addtitle>Curr Biol</addtitle><date>2003-07-01</date><risdate>2003</risdate><volume>13</volume><issue>13</issue><spage>1129</spage><epage>1133</epage><pages>1129-1133</pages><issn>0960-9822</issn><eissn>1879-0445</eissn><abstract>We identified two novel mouse mutants with abnormal head-shaking behavior and neural tube defects during the course of independent ENU mutagenesis experiments. The heterozygous and homozygous mutants exhibit defects in the orientation of sensory hair cells in the organ of Corti, indicating a defect in planar cell polarity. The homozygous mutants exhibit severe neural tube defects as a result of failure to initiate neural tube closure. We show that these mutants, spin cycle and crash, carry independent missense mutations within the coding region of Celsr1, encoding a large protocadherin molecule [1]. Celsr1 is one of three mammalian homologs of Drosophila flamingo/starry night, which is essential for the planar cell polarity pathway in Drosophila together with frizzled, dishevelled, prickle, strabismus/van gogh, and rhoA[2, 3]. 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| source | MEDLINE; Cell Press Free Archives; Elsevier ScienceDirect Journals; EZB-FREE-00999 freely available EZB journals |
| subjects | Animals Cell Polarity - genetics Cell Polarity - physiology Chromosome Mapping Hair Cells, Auditory, Inner - physiopathology Hair Cells, Auditory, Inner - ultrastructure In Situ Hybridization Mice Microscopy, Electron, Scanning Mutation, Missense - genetics Neural Tube Defects - physiopathology Receptors, G-Protein-Coupled - genetics Sequence Analysis, DNA Signal Transduction - physiology |
| title | Mutation of Celsr1 Disrupts Planar Polarity of Inner Ear Hair Cells and Causes Severe Neural Tube Defects in the Mouse |
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