Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene
Identifieur interne : 001227 ( Istex/Corpus ); précédent : 001226; suivant : 001228Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene
Auteurs : Maria I. Ferrante ; Leila Romio ; Silvia Castro ; John E. Collins ; David A. Goulding ; Derek L. Stemple ; Adrian S. Woolf ; Stephen W. WilsonSource :
- Human Molecular Genetics [ 0964-6906 ] ; 2009-01-15.
Abstract
In humans, OFD1 is mutated in oral-facial-digital type I syndrome leading to prenatal death in hemizygous males and dysmorphic faces and brain malformations, with polycystic kidneys presenting later in life in heterozygous females. To elucidate the function of Ofd1, we have studied its function during zebrafish embryonic development. In wild-type embryos, ofd1 mRNA is widely expressed and Ofd1-green fluorescent protein (GFP) fusion localizes to the centrosome/basal body. Disrupting Ofd1 using antisense morpholinos (MOs) led to bent body axes, hydrocephalus and oedema. Laterality was randomized in the brain, heart and viscera, likely a consequence of shorter cilia with disrupted axonemes and perturbed intravesicular fluid flow in Kupffer's vesicle. Embryos injected with ofd1 MOs also displayed convergent extension (CE) defects, which were enhanced by loss of Slb/Wnt11 or Tri/Vangl2, two proteins functioning in a non-canonical Wnt/Planar Cell Polarity (PCP) pathway. Pronephric glomerular midline fusion was compromised in vangl2 and ofd1 loss of function embryos and we suggest this anomaly may be a novel CE defect. Thus, Ofd1 is required for ciliary motility and function in zebrafish, supporting data showing that Ofd1 is essential for primary cilia function in mice. In addition, our data show that Ofd1 is important for CE during gastrulation, consistent with data linking primary cilia and non-canonical Wnt/PCP signalling.
Url:
DOI: 10.1093/hmg/ddn356
Links to Exploration step
ISTEX:554B7EAEF517285C1D7C153E821B34797413B110Le document en format XML
<record><TEI wicri:istexFullTextTei="biblStruct"><teiHeader><fileDesc><titleStmt><title>Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene</title><author><name sortKey="Ferrante, Maria I" sort="Ferrante, Maria I" uniqKey="Ferrante M" first="Maria I." last="Ferrante">Maria I. Ferrante</name><affiliation><mods:affiliation>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK</mods:affiliation></affiliation></author><author><name sortKey="Romio, Leila" sort="Romio, Leila" uniqKey="Romio L" first="Leila" last="Romio">Leila Romio</name><affiliation><mods:affiliation>Nephro-Urology Unit, UCL Institute of Child Health, London WC1N 1EH, UK</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Cell and Developmental Biology, UCL, London WC1E 6BT, UK</mods:affiliation></affiliation></author><author><name sortKey="Castro, Silvia" sort="Castro, Silvia" uniqKey="Castro S" first="Silvia" last="Castro">Silvia Castro</name><affiliation><mods:affiliation>Department of Cell and Developmental Biology, UCL, London WC1E 6BT, UK</mods:affiliation></affiliation></author><author><name sortKey="Collins, John E" sort="Collins, John E" uniqKey="Collins J" first="John E." last="Collins">John E. Collins</name><affiliation><mods:affiliation>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK</mods:affiliation></affiliation></author><author><name sortKey="Goulding, David A" sort="Goulding, David A" uniqKey="Goulding D" first="David A." last="Goulding">David A. Goulding</name><affiliation><mods:affiliation>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK</mods:affiliation></affiliation></author><author><name sortKey="Stemple, Derek L" sort="Stemple, Derek L" uniqKey="Stemple D" first="Derek L." last="Stemple">Derek L. Stemple</name><affiliation><mods:affiliation>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK</mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: ds4@sanger.ac.uk</mods:affiliation></affiliation></author><author><name sortKey="Woolf, Adrian S" sort="Woolf, Adrian S" uniqKey="Woolf A" first="Adrian S." last="Woolf">Adrian S. Woolf</name><affiliation><mods:affiliation>Nephro-Urology Unit, UCL Institute of Child Health, London WC1N 1EH, UK</mods:affiliation></affiliation></author><author><name sortKey="Wilson, Stephen W" sort="Wilson, Stephen W" uniqKey="Wilson S" first="Stephen W." last="Wilson">Stephen W. Wilson</name><affiliation><mods:affiliation>Department of Cell and Developmental Biology, UCL, London WC1E 6BT, UK</mods:affiliation></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">ISTEX</idno><idno type="RBID">ISTEX:554B7EAEF517285C1D7C153E821B34797413B110</idno><date when="2009" year="2009">2009</date><idno type="doi">10.1093/hmg/ddn356</idno><idno type="url">https://api.istex.fr/document/554B7EAEF517285C1D7C153E821B34797413B110/fulltext/pdf</idno><idno type="wicri:Area/Istex/Corpus">001227</idno></publicationStmt><sourceDesc><biblStruct><analytic><title level="a">Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene</title><author><name sortKey="Ferrante, Maria I" sort="Ferrante, Maria I" uniqKey="Ferrante M" first="Maria I." last="Ferrante">Maria I. Ferrante</name><affiliation><mods:affiliation>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK</mods:affiliation></affiliation></author><author><name sortKey="Romio, Leila" sort="Romio, Leila" uniqKey="Romio L" first="Leila" last="Romio">Leila Romio</name><affiliation><mods:affiliation>Nephro-Urology Unit, UCL Institute of Child Health, London WC1N 1EH, UK</mods:affiliation></affiliation><affiliation><mods:affiliation>Department of Cell and Developmental Biology, UCL, London WC1E 6BT, UK</mods:affiliation></affiliation></author><author><name sortKey="Castro, Silvia" sort="Castro, Silvia" uniqKey="Castro S" first="Silvia" last="Castro">Silvia Castro</name><affiliation><mods:affiliation>Department of Cell and Developmental Biology, UCL, London WC1E 6BT, UK</mods:affiliation></affiliation></author><author><name sortKey="Collins, John E" sort="Collins, John E" uniqKey="Collins J" first="John E." last="Collins">John E. Collins</name><affiliation><mods:affiliation>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK</mods:affiliation></affiliation></author><author><name sortKey="Goulding, David A" sort="Goulding, David A" uniqKey="Goulding D" first="David A." last="Goulding">David A. Goulding</name><affiliation><mods:affiliation>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK</mods:affiliation></affiliation></author><author><name sortKey="Stemple, Derek L" sort="Stemple, Derek L" uniqKey="Stemple D" first="Derek L." last="Stemple">Derek L. Stemple</name><affiliation><mods:affiliation>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK</mods:affiliation></affiliation><affiliation><mods:affiliation>E-mail: ds4@sanger.ac.uk</mods:affiliation></affiliation></author><author><name sortKey="Woolf, Adrian S" sort="Woolf, Adrian S" uniqKey="Woolf A" first="Adrian S." last="Woolf">Adrian S. Woolf</name><affiliation><mods:affiliation>Nephro-Urology Unit, UCL Institute of Child Health, London WC1N 1EH, UK</mods:affiliation></affiliation></author><author><name sortKey="Wilson, Stephen W" sort="Wilson, Stephen W" uniqKey="Wilson S" first="Stephen W." last="Wilson">Stephen W. Wilson</name><affiliation><mods:affiliation>Department of Cell and Developmental Biology, UCL, London WC1E 6BT, UK</mods:affiliation></affiliation></author></analytic><monogr></monogr><series><title level="j">Human Molecular Genetics</title><idno type="ISSN">0964-6906</idno><idno type="eISSN">1460-2083</idno><imprint><publisher>Oxford University Press</publisher><date type="published" when="2009-01-15">2009-01-15</date><biblScope unit="volume">18</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="289">289</biblScope><biblScope unit="page" to="303">303</biblScope></imprint><idno type="ISSN">0964-6906</idno></series><idno type="istex">554B7EAEF517285C1D7C153E821B34797413B110</idno><idno type="DOI">10.1093/hmg/ddn356</idno><idno type="ArticleID">ddn356</idno></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0964-6906</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass><langUsage><language ident="en">en</language></langUsage></profileDesc></teiHeader><front><div type="abstract">In humans, OFD1 is mutated in oral-facial-digital type I syndrome leading to prenatal death in hemizygous males and dysmorphic faces and brain malformations, with polycystic kidneys presenting later in life in heterozygous females. To elucidate the function of Ofd1, we have studied its function during zebrafish embryonic development. In wild-type embryos, ofd1 mRNA is widely expressed and Ofd1-green fluorescent protein (GFP) fusion localizes to the centrosome/basal body. Disrupting Ofd1 using antisense morpholinos (MOs) led to bent body axes, hydrocephalus and oedema. Laterality was randomized in the brain, heart and viscera, likely a consequence of shorter cilia with disrupted axonemes and perturbed intravesicular fluid flow in Kupffer's vesicle. Embryos injected with ofd1 MOs also displayed convergent extension (CE) defects, which were enhanced by loss of Slb/Wnt11 or Tri/Vangl2, two proteins functioning in a non-canonical Wnt/Planar Cell Polarity (PCP) pathway. Pronephric glomerular midline fusion was compromised in vangl2 and ofd1 loss of function embryos and we suggest this anomaly may be a novel CE defect. Thus, Ofd1 is required for ciliary motility and function in zebrafish, supporting data showing that Ofd1 is essential for primary cilia function in mice. In addition, our data show that Ofd1 is important for CE during gastrulation, consistent with data linking primary cilia and non-canonical Wnt/PCP signalling.</div></front></TEI><istex><corpusName>oup</corpusName><author><json:item><name>Maria I. Ferrante</name><affiliations><json:string>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK</json:string></affiliations></json:item><json:item><name>Leila Romio</name><affiliations><json:string>Nephro-Urology Unit, UCL Institute of Child Health, London WC1N 1EH, UK</json:string><json:string>Department of Cell and Developmental Biology, UCL, London WC1E 6BT, UK</json:string></affiliations></json:item><json:item><name>Silvia Castro</name><affiliations><json:string>Department of Cell and Developmental Biology, UCL, London WC1E 6BT, UK</json:string></affiliations></json:item><json:item><name>John E. Collins</name><affiliations><json:string>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK</json:string></affiliations></json:item><json:item><name>David A. Goulding</name><affiliations><json:string>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK</json:string></affiliations></json:item><json:item><name>Derek L. Stemple</name><affiliations><json:string>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK</json:string><json:string>E-mail: ds4@sanger.ac.uk</json:string></affiliations></json:item><json:item><name>Adrian S. Woolf</name><affiliations><json:string>Nephro-Urology Unit, UCL Institute of Child Health, London WC1N 1EH, UK</json:string></affiliations></json:item><json:item><name>Stephen W. Wilson</name><affiliations><json:string>Department of Cell and Developmental Biology, UCL, London WC1E 6BT, UK</json:string></affiliations></json:item></author><articleId><json:string>ddn356</json:string></articleId><language><json:string>eng</json:string></language><originalGenre><json:string>research-article</json:string></originalGenre><abstract>In humans, OFD1 is mutated in oral-facial-digital type I syndrome leading to prenatal death in hemizygous males and dysmorphic faces and brain malformations, with polycystic kidneys presenting later in life in heterozygous females. To elucidate the function of Ofd1, we have studied its function during zebrafish embryonic development. In wild-type embryos, ofd1 mRNA is widely expressed and Ofd1-green fluorescent protein (GFP) fusion localizes to the centrosome/basal body. Disrupting Ofd1 using antisense morpholinos (MOs) led to bent body axes, hydrocephalus and oedema. Laterality was randomized in the brain, heart and viscera, likely a consequence of shorter cilia with disrupted axonemes and perturbed intravesicular fluid flow in Kupffer's vesicle. Embryos injected with ofd1 MOs also displayed convergent extension (CE) defects, which were enhanced by loss of Slb/Wnt11 or Tri/Vangl2, two proteins functioning in a non-canonical Wnt/Planar Cell Polarity (PCP) pathway. Pronephric glomerular midline fusion was compromised in vangl2 and ofd1 loss of function embryos and we suggest this anomaly may be a novel CE defect. Thus, Ofd1 is required for ciliary motility and function in zebrafish, supporting data showing that Ofd1 is essential for primary cilia function in mice. In addition, our data show that Ofd1 is important for CE during gastrulation, consistent with data linking primary cilia and non-canonical Wnt/PCP signalling.</abstract><qualityIndicators><score>7.52</score><pdfVersion>1.2</pdfVersion><pdfPageSize>612 x 797.953 pts</pdfPageSize><refBibsNative>false</refBibsNative><keywordCount>0</keywordCount><abstractCharCount>1442</abstractCharCount><pdfWordCount>10289</pdfWordCount><pdfCharCount>63514</pdfCharCount><pdfPageCount>15</pdfPageCount><abstractWordCount>210</abstractWordCount></qualityIndicators><title>Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene</title><genre><json:string>research-article</json:string></genre><host><volume>18</volume><publisherId><json:string>hmg</json:string></publisherId><pages><last>303</last><first>289</first></pages><issn><json:string>0964-6906</json:string></issn><issue>2</issue><genre><json:string>journal</json:string></genre><language><json:string>unknown</json:string></language><eissn><json:string>1460-2083</json:string></eissn><title>Human Molecular Genetics</title></host><categories><wos><json:string>BIOCHEMISTRY & MOLECULAR BIOLOGY</json:string><json:string>GENETICS & HEREDITY</json:string></wos></categories><publicationDate>2009</publicationDate><copyrightDate>2009</copyrightDate><doi><json:string>10.1093/hmg/ddn356</json:string></doi><id>554B7EAEF517285C1D7C153E821B34797413B110</id><score>0.23370779</score><fulltext><json:item><original>true</original><mimetype>application/pdf</mimetype><extension>pdf</extension><uri>https://api.istex.fr/document/554B7EAEF517285C1D7C153E821B34797413B110/fulltext/pdf</uri></json:item><json:item><original>false</original><mimetype>application/zip</mimetype><extension>zip</extension><uri>https://api.istex.fr/document/554B7EAEF517285C1D7C153E821B34797413B110/fulltext/zip</uri></json:item><istex:fulltextTEI uri="https://api.istex.fr/document/554B7EAEF517285C1D7C153E821B34797413B110/fulltext/tei"><teiHeader><fileDesc><titleStmt><title level="a">Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene</title><respStmt><resp>Références bibliographiques récupérées via GROBID</resp><name resp="ISTEX-API">ISTEX-API (INIST-CNRS)</name></respStmt></titleStmt><publicationStmt><authority>ISTEX</authority><publisher>Oxford University Press</publisher><availability><p>2008 The Author(s)</p></availability><date>2008-10-29</date></publicationStmt><notesStmt><note>The authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors.</note></notesStmt><sourceDesc><biblStruct type="inbook"><analytic><title level="a">Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene</title><author xml:id="author-1"><persName><forename type="first">Maria I.</forename><surname>Ferrante</surname></persName><note type="biography">The authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors.</note><affiliation>The authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors.</affiliation><affiliation>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK</affiliation></author><author xml:id="author-2"><persName><forename type="first">Leila</forename><surname>Romio</surname></persName><note type="biography">The authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors.</note><affiliation>The authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors.</affiliation><affiliation>Nephro-Urology Unit, UCL Institute of Child Health, London WC1N 1EH, UK</affiliation><affiliation>Department of Cell and Developmental Biology, UCL, London WC1E 6BT, UK</affiliation></author><author xml:id="author-3"><persName><forename type="first">Silvia</forename><surname>Castro</surname></persName><affiliation>Department of Cell and Developmental Biology, UCL, London WC1E 6BT, UK</affiliation></author><author xml:id="author-4"><persName><forename type="first">John E.</forename><surname>Collins</surname></persName><affiliation>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK</affiliation></author><author xml:id="author-5"><persName><forename type="first">David A.</forename><surname>Goulding</surname></persName><affiliation>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK</affiliation></author><author xml:id="author-6"><persName><forename type="first">Derek L.</forename><surname>Stemple</surname></persName><email>ds4@sanger.ac.uk</email><affiliation>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK</affiliation></author><author xml:id="author-7"><persName><forename type="first">Adrian S.</forename><surname>Woolf</surname></persName><affiliation>Nephro-Urology Unit, UCL Institute of Child Health, London WC1N 1EH, UK</affiliation></author><author xml:id="author-8"><persName><forename type="first">Stephen W.</forename><surname>Wilson</surname></persName><affiliation>Department of Cell and Developmental Biology, UCL, London WC1E 6BT, UK</affiliation></author></analytic><monogr><title level="j">Human Molecular Genetics</title><idno type="pISSN">0964-6906</idno><idno type="eISSN">1460-2083</idno><imprint><publisher>Oxford University Press</publisher><date type="published" when="2009-01-15"></date><biblScope unit="volume">18</biblScope><biblScope unit="issue">2</biblScope><biblScope unit="page" from="289">289</biblScope><biblScope unit="page" to="303">303</biblScope></imprint></monogr><idno type="istex">554B7EAEF517285C1D7C153E821B34797413B110</idno><idno type="DOI">10.1093/hmg/ddn356</idno><idno type="ArticleID">ddn356</idno></biblStruct></sourceDesc></fileDesc><profileDesc><creation><date>2008-10-29</date></creation><langUsage><language ident="en">en</language></langUsage><abstract><p>In humans, OFD1 is mutated in oral-facial-digital type I syndrome leading to prenatal death in hemizygous males and dysmorphic faces and brain malformations, with polycystic kidneys presenting later in life in heterozygous females. To elucidate the function of Ofd1, we have studied its function during zebrafish embryonic development. In wild-type embryos, ofd1 mRNA is widely expressed and Ofd1-green fluorescent protein (GFP) fusion localizes to the centrosome/basal body. Disrupting Ofd1 using antisense morpholinos (MOs) led to bent body axes, hydrocephalus and oedema. Laterality was randomized in the brain, heart and viscera, likely a consequence of shorter cilia with disrupted axonemes and perturbed intravesicular fluid flow in Kupffer's vesicle. Embryos injected with ofd1 MOs also displayed convergent extension (CE) defects, which were enhanced by loss of Slb/Wnt11 or Tri/Vangl2, two proteins functioning in a non-canonical Wnt/Planar Cell Polarity (PCP) pathway. Pronephric glomerular midline fusion was compromised in vangl2 and ofd1 loss of function embryos and we suggest this anomaly may be a novel CE defect. Thus, Ofd1 is required for ciliary motility and function in zebrafish, supporting data showing that Ofd1 is essential for primary cilia function in mice. In addition, our data show that Ofd1 is important for CE during gastrulation, consistent with data linking primary cilia and non-canonical Wnt/PCP signalling.</p></abstract></profileDesc><revisionDesc><change when="2008-10-29">Created</change><change when="2009-01-15">Published</change><change xml:id="refBibs-istex" who="#ISTEX-API" when="2016-10-14">References added</change></revisionDesc></teiHeader></istex:fulltextTEI><json:item><original>false</original><mimetype>text/plain</mimetype><extension>txt</extension><uri>https://api.istex.fr/document/554B7EAEF517285C1D7C153E821B34797413B110/fulltext/txt</uri></json:item></fulltext><metadata><istex:metadataXml wicri:clean="corpus oup" wicri:toSee="no header"><istex:xmlDeclaration>version="1.0" encoding="utf-8"</istex:xmlDeclaration><istex:docType PUBLIC="-//NLM//DTD Journal Publishing DTD v2.3 20070202//EN" URI="journalpublishing.dtd" name="istex:docType"></istex:docType><istex:document><article article-type="research-article"><front><journal-meta><journal-id journal-id-type="publisher-id">hmg</journal-id><journal-id journal-id-type="hwp">hmg</journal-id><journal-title>Human Molecular Genetics</journal-title><issn pub-type="ppub">0964-6906</issn><issn pub-type="epub">1460-2083</issn><publisher><publisher-name>Oxford University Press</publisher-name></publisher></journal-meta><article-meta><article-id pub-id-type="doi">10.1093/hmg/ddn356</article-id><article-id pub-id-type="publisher-id">ddn356</article-id><article-categories><subj-group subj-group-type="heading"><subject>ARTICLES</subject></subj-group></article-categories><title-group><article-title>Convergent extension movements and ciliary function are mediated by <italic>ofd1</italic>, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene</article-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>Ferrante</surname><given-names>Maria I.</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="author-notes" rid="FN1">†</xref></contrib><contrib contrib-type="author"><name><surname>Romio</surname><given-names>Leila</given-names></name><xref ref-type="aff" rid="af2">2</xref><xref ref-type="aff" rid="af3">3</xref><xref ref-type="author-notes" rid="FN1">†</xref></contrib><contrib contrib-type="author"><name><surname>Castro</surname><given-names>Silvia</given-names></name><xref ref-type="aff" rid="af3">3</xref></contrib><contrib contrib-type="author"><name><surname>Collins</surname><given-names>John E.</given-names></name><xref ref-type="aff" rid="af1">1</xref></contrib><contrib contrib-type="author"><name><surname>Goulding</surname><given-names>David A.</given-names></name><xref ref-type="aff" rid="af1">1</xref></contrib><contrib contrib-type="author"><name><surname>Stemple</surname><given-names>Derek L.</given-names></name><xref ref-type="aff" rid="af1">1</xref><xref ref-type="corresp" rid="cor1">*</xref></contrib><contrib contrib-type="author"><name><surname>Woolf</surname><given-names>Adrian S.</given-names></name><xref ref-type="aff" rid="af2">2</xref></contrib><contrib contrib-type="author"><name><surname>Wilson</surname><given-names>Stephen W.</given-names></name><xref ref-type="aff" rid="af3">3</xref></contrib></contrib-group><aff id="af1"><label>1</label><addr-line>Wellcome Trust Sanger Institute</addr-line>, <institution>Wellcome Trust Genome Campus</institution>, <addr-line>Cambridge CB10 1SA</addr-line>, <country>UK</country></aff><aff id="af2"><label>2</label><addr-line>Nephro-Urology Unit</addr-line>, <institution>UCL Institute of Child Health</institution>, <addr-line>London WC1N 1EH</addr-line>, <country>UK</country></aff><aff id="af3"><label>3</label><addr-line>Department of Cell and Developmental Biology</addr-line>, <institution>UCL</institution>, <addr-line>London WC1E 6BT</addr-line>, <country>UK</country></aff><author-notes><corresp id="cor1"><label>*</label>To whom correspondence should be addressed. Tel: <phone>+44 1223496857</phone>; Fax: <fax>+44 1223494919</fax>; Email: <email>ds4@sanger.ac.uk</email></corresp><fn id="FN1"><p><sup>†</sup>The authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors.</p></fn></author-notes><pub-date pub-type="ppub"><day>15</day><month>1</month><year>2009</year></pub-date><pub-date pub-type="epub"><day>29</day><month>10</month><year>2008</year></pub-date><volume>18</volume><issue>2</issue><fpage>289</fpage><lpage>303</lpage><history><date date-type="received"><day>22</day><month>7</month><year>2008</year></date><date date-type="accepted"><day>26</day><month>10</month><year>2008</year></date></history><copyright-statement>© 2008 The Author(s)</copyright-statement><copyright-year>2009</copyright-year><license license-type="creative-commons" xlink:href="http://creativecommons.org/licenses/by-nc/2.0/uk/"><p>This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/2.0/uk/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.</p></license><abstract><p>In humans, <italic>OFD1</italic> is mutated in oral-facial-digital type I syndrome leading to prenatal death in hemizygous males and dysmorphic faces and brain malformations, with polycystic kidneys presenting later in life in heterozygous females. To elucidate the function of Ofd1, we have studied its function during zebrafish embryonic development. In wild-type embryos, <italic>ofd1</italic> mRNA is widely expressed and Ofd1-green fluorescent protein (GFP) fusion localizes to the centrosome/basal body. Disrupting Ofd1 using antisense morpholinos (MOs) led to bent body axes, hydrocephalus and oedema. Laterality was randomized in the brain, heart and viscera, likely a consequence of shorter cilia with disrupted axonemes and perturbed intravesicular fluid flow in Kupffer's vesicle. Embryos injected with <italic>ofd1</italic> MOs also displayed convergent extension (CE) defects, which were enhanced by loss of Slb/Wnt11 or Tri/Vangl2, two proteins functioning in a non-canonical Wnt/Planar Cell Polarity (PCP) pathway. Pronephric glomerular midline fusion was compromised in <italic>vangl2</italic> and <italic>ofd1</italic> loss of function embryos and we suggest this anomaly may be a novel CE defect. Thus, Ofd1 is required for ciliary motility and function in zebrafish, supporting data showing that Ofd1 is essential for primary cilia function in mice. In addition, our data show that Ofd1 is important for CE during gastrulation, consistent with data linking primary cilia and non-canonical Wnt/PCP signalling.</p></abstract></article-meta></front></article></istex:document></istex:metadataXml><mods version="3.6"><titleInfo><title>Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene</title></titleInfo><titleInfo type="alternative" contentType="CDATA"><title>Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene</title></titleInfo><name type="personal"><namePart type="given">Maria I.</namePart><namePart type="family">Ferrante</namePart><affiliation>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK</affiliation><description>The authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Leila</namePart><namePart type="family">Romio</namePart><affiliation>Nephro-Urology Unit, UCL Institute of Child Health, London WC1N 1EH, UK</affiliation><affiliation>Department of Cell and Developmental Biology, UCL, London WC1E 6BT, UK</affiliation><description>The authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors.</description><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Silvia</namePart><namePart type="family">Castro</namePart><affiliation>Department of Cell and Developmental Biology, UCL, London WC1E 6BT, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">John E.</namePart><namePart type="family">Collins</namePart><affiliation>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">David A.</namePart><namePart type="family">Goulding</namePart><affiliation>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Derek L.</namePart><namePart type="family">Stemple</namePart><affiliation>Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Cambridge CB10 1SA, UK</affiliation><affiliation>E-mail: ds4@sanger.ac.uk</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Adrian S.</namePart><namePart type="family">Woolf</namePart><affiliation>Nephro-Urology Unit, UCL Institute of Child Health, London WC1N 1EH, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><name type="personal"><namePart type="given">Stephen W.</namePart><namePart type="family">Wilson</namePart><affiliation>Department of Cell and Developmental Biology, UCL, London WC1E 6BT, UK</affiliation><role><roleTerm type="text">author</roleTerm></role></name><typeOfResource>text</typeOfResource><genre type="research-article" displayLabel="research-article"></genre><originInfo><publisher>Oxford University Press</publisher><dateIssued encoding="w3cdtf">2009-01-15</dateIssued><dateCreated encoding="w3cdtf">2008-10-29</dateCreated><copyrightDate encoding="w3cdtf">2009</copyrightDate></originInfo><language><languageTerm type="code" authority="iso639-2b">eng</languageTerm><languageTerm type="code" authority="rfc3066">en</languageTerm></language><physicalDescription><internetMediaType>text/html</internetMediaType></physicalDescription><abstract>In humans, OFD1 is mutated in oral-facial-digital type I syndrome leading to prenatal death in hemizygous males and dysmorphic faces and brain malformations, with polycystic kidneys presenting later in life in heterozygous females. To elucidate the function of Ofd1, we have studied its function during zebrafish embryonic development. In wild-type embryos, ofd1 mRNA is widely expressed and Ofd1-green fluorescent protein (GFP) fusion localizes to the centrosome/basal body. Disrupting Ofd1 using antisense morpholinos (MOs) led to bent body axes, hydrocephalus and oedema. Laterality was randomized in the brain, heart and viscera, likely a consequence of shorter cilia with disrupted axonemes and perturbed intravesicular fluid flow in Kupffer's vesicle. Embryos injected with ofd1 MOs also displayed convergent extension (CE) defects, which were enhanced by loss of Slb/Wnt11 or Tri/Vangl2, two proteins functioning in a non-canonical Wnt/Planar Cell Polarity (PCP) pathway. Pronephric glomerular midline fusion was compromised in vangl2 and ofd1 loss of function embryos and we suggest this anomaly may be a novel CE defect. Thus, Ofd1 is required for ciliary motility and function in zebrafish, supporting data showing that Ofd1 is essential for primary cilia function in mice. In addition, our data show that Ofd1 is important for CE during gastrulation, consistent with data linking primary cilia and non-canonical Wnt/PCP signalling.</abstract><note type="footnotes">The authors wish it to be known that, in their opinion, the first two authors should be regarded as joint First Authors.</note><relatedItem type="host"><titleInfo><title>Human Molecular Genetics</title></titleInfo><genre type="journal">journal</genre><identifier type="ISSN">0964-6906</identifier><identifier type="eISSN">1460-2083</identifier><identifier type="PublisherID">hmg</identifier><identifier type="PublisherID-hwp">hmg</identifier><part><date>2009</date><detail type="volume"><caption>vol.</caption><number>18</number></detail><detail type="issue"><caption>no.</caption><number>2</number></detail><extent unit="pages"><start>289</start><end>303</end></extent></part></relatedItem><identifier type="istex">554B7EAEF517285C1D7C153E821B34797413B110</identifier><identifier type="DOI">10.1093/hmg/ddn356</identifier><identifier type="ArticleID">ddn356</identifier><accessCondition type="use and reproduction" contentType="copyright">2008 The Author(s)</accessCondition><recordInfo><recordContentSource>OUP</recordContentSource></recordInfo></mods></metadata><covers><json:item><original>true</original><mimetype>image/tiff</mimetype><extension>tiff</extension><uri>https://api.istex.fr/document/554B7EAEF517285C1D7C153E821B34797413B110/covers/tiff</uri></json:item><json:item><original>true</original><mimetype>text/html</mimetype><extension>html</extension><uri>https://api.istex.fr/document/554B7EAEF517285C1D7C153E821B34797413B110/covers/html</uri></json:item></covers><annexes><json:item><original>true</original><mimetype>image/jpeg</mimetype><extension>jpeg</extension><uri>https://api.istex.fr/document/554B7EAEF517285C1D7C153E821B34797413B110/annexes/jpeg</uri></json:item><json:item><original>true</original><mimetype>image/gif</mimetype><extension>gif</extension><uri>https://api.istex.fr/document/554B7EAEF517285C1D7C153E821B34797413B110/annexes/gif</uri></json:item></annexes><enrichments><istex:catWosTEI uri="https://api.istex.fr/document/554B7EAEF517285C1D7C153E821B34797413B110/enrichments/catWos"><teiHeader><profileDesc><textClass><classCode scheme="WOS">BIOCHEMISTRY & MOLECULAR BIOLOGY</classCode><classCode scheme="WOS">GENETICS & HEREDITY</classCode></textClass></profileDesc></teiHeader></istex:catWosTEI><json:item><type>refBibs</type><uri>https://api.istex.fr/document/554B7EAEF517285C1D7C153E821B34797413B110/enrichments/refBibs</uri></json:item></enrichments><serie></serie></istex></record>Pour manipuler ce document sous Unix (Dilib)
EXPLOR_STEP=$WICRI_ROOT/Wicri/Belgique/explor/OpenAccessBelV2/Data/Istex/Corpus
HfdSelect -h $EXPLOR_STEP/biblio.hfd -nk 001227 | SxmlIndent | more
Ou
HfdSelect -h $EXPLOR_AREA/Data/Istex/Corpus/biblio.hfd -nk 001227 | SxmlIndent | more
Pour mettre un lien sur cette page dans le réseau Wicri
{{Explor lien
|wiki= Wicri/Belgique
|area= OpenAccessBelV2
|flux= Istex
|étape= Corpus
|type= RBID
|clé= ISTEX:554B7EAEF517285C1D7C153E821B34797413B110
|texte= Convergent extension movements and ciliary function are mediated by ofd1, a zebrafish orthologue of the human oral-facial-digital type 1 syndrome gene
}}
| This area was generated with Dilib version V0.6.25. |  |