Foxf2: A Novel Locus for Anterior Segment Dysgenesis Adjacent to the Foxc1 Gene
Identifieur interne : 004519 ( Pmc/Curation ); précédent : 004518; suivant : 004520Foxf2: A Novel Locus for Anterior Segment Dysgenesis Adjacent to the Foxc1 Gene
Auteurs : Richard Mckeone [Royaume-Uni] ; Helena Vieira [Royaume-Uni] ; Kevin Gregory-Evans [Canada] ; Cheryl Y. Gregory-Evans [Canada] ; Paul Denny [Royaume-Uni]Source :
- PLoS ONE [ 1932-6203 ] ; 2011.
Abstract
Anterior segment dysgenesis (ASD) is characterised by an abnormal migration of neural crest cells or an aberrant differentiation of the mesenchymal cells during the formation of the eye's anterior segment. These abnormalities result in multiple tissue defects affecting the iris, cornea and drainage structures of the iridocorneal angle including the ciliary body, trabecular meshwork and Schlemm's canal. In some cases, abnormal ASD development leads to glaucoma, which is usually associated with increased intraocular pressure. Haploinsufficiency through mutation or chromosomal deletion of the human
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DOI: 10.1371/journal.pone.0025489
PubMed: 22022403
PubMed Central: 3192754
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<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en"><italic>Foxf2</italic>: A Novel Locus for Anterior Segment Dysgenesis Adjacent to the <italic>Foxc1</italic> Gene</title><author><name sortKey="Mckeone, Richard" sort="Mckeone, Richard" uniqKey="Mckeone R" first="Richard" last="Mckeone">Richard Mckeone</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>MRC Mammalian Genetics Unit, Harwell, Oxford, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Mammalian Genetics Unit, Harwell, Oxford</wicri:regionArea></affiliation></author><author><name sortKey="Vieira, Helena" sort="Vieira, Helena" uniqKey="Vieira H" first="Helena" last="Vieira">Helena Vieira</name><affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Department of Cell and Molecular Biology, Faculty of Medicine, Imperial College London, London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Cell and Molecular Biology, Faculty of Medicine, Imperial College London, London</wicri:regionArea></affiliation></author><author><name sortKey="Gregory Evans, Kevin" sort="Gregory Evans, Kevin" uniqKey="Gregory Evans K" first="Kevin" last="Gregory-Evans">Kevin Gregory-Evans</name><affiliation wicri:level="1"><nlm:aff id="aff3"><addr-line>Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, British Columbia, Canada</addr-line></nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, British Columbia</wicri:regionArea></affiliation></author><author><name sortKey="Gregory Evans, Cheryl Y" sort="Gregory Evans, Cheryl Y" uniqKey="Gregory Evans C" first="Cheryl Y." last="Gregory-Evans">Cheryl Y. Gregory-Evans</name><affiliation wicri:level="1"><nlm:aff id="aff3"><addr-line>Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, British Columbia, Canada</addr-line></nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, British Columbia</wicri:regionArea></affiliation></author><author><name sortKey="Denny, Paul" sort="Denny, Paul" uniqKey="Denny P" first="Paul" last="Denny">Paul Denny</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>MRC Mammalian Genetics Unit, Harwell, Oxford, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Mammalian Genetics Unit, Harwell, Oxford</wicri:regionArea></affiliation></author></titleStmt><publicationStmt><idno type="wicri:source">PMC</idno><idno type="pmid">22022403</idno><idno type="pmc">3192754</idno><idno type="url">http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3192754</idno><idno type="RBID">PMC:3192754</idno><idno type="doi">10.1371/journal.pone.0025489</idno><date when="2011">2011</date><idno type="wicri:Area/Pmc/Corpus">004520</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Corpus" wicri:corpus="PMC">004520</idno><idno type="wicri:Area/Pmc/Curation">004519</idno><idno type="wicri:explorRef" wicri:stream="Pmc" wicri:step="Curation">004519</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main"><italic>Foxf2</italic>: A Novel Locus for Anterior Segment Dysgenesis Adjacent to the <italic>Foxc1</italic> Gene</title><author><name sortKey="Mckeone, Richard" sort="Mckeone, Richard" uniqKey="Mckeone R" first="Richard" last="Mckeone">Richard Mckeone</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>MRC Mammalian Genetics Unit, Harwell, Oxford, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Mammalian Genetics Unit, Harwell, Oxford</wicri:regionArea></affiliation></author><author><name sortKey="Vieira, Helena" sort="Vieira, Helena" uniqKey="Vieira H" first="Helena" last="Vieira">Helena Vieira</name><affiliation wicri:level="1"><nlm:aff id="aff2"><addr-line>Department of Cell and Molecular Biology, Faculty of Medicine, Imperial College London, London, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>Department of Cell and Molecular Biology, Faculty of Medicine, Imperial College London, London</wicri:regionArea></affiliation></author><author><name sortKey="Gregory Evans, Kevin" sort="Gregory Evans, Kevin" uniqKey="Gregory Evans K" first="Kevin" last="Gregory-Evans">Kevin Gregory-Evans</name><affiliation wicri:level="1"><nlm:aff id="aff3"><addr-line>Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, British Columbia, Canada</addr-line></nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, British Columbia</wicri:regionArea></affiliation></author><author><name sortKey="Gregory Evans, Cheryl Y" sort="Gregory Evans, Cheryl Y" uniqKey="Gregory Evans C" first="Cheryl Y." last="Gregory-Evans">Cheryl Y. Gregory-Evans</name><affiliation wicri:level="1"><nlm:aff id="aff3"><addr-line>Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, British Columbia, Canada</addr-line></nlm:aff><country xml:lang="fr">Canada</country><wicri:regionArea>Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, British Columbia</wicri:regionArea></affiliation></author><author><name sortKey="Denny, Paul" sort="Denny, Paul" uniqKey="Denny P" first="Paul" last="Denny">Paul Denny</name><affiliation wicri:level="1"><nlm:aff id="aff1"><addr-line>MRC Mammalian Genetics Unit, Harwell, Oxford, United Kingdom</addr-line></nlm:aff><country xml:lang="fr">Royaume-Uni</country><wicri:regionArea>MRC Mammalian Genetics Unit, Harwell, Oxford</wicri:regionArea></affiliation></author></analytic><series><title level="j">PLoS ONE</title><idno type="eISSN">1932-6203</idno><imprint><date when="2011">2011</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Anterior segment dysgenesis (ASD) is characterised by an abnormal migration of neural crest cells or an aberrant differentiation of the mesenchymal cells during the formation of the eye's anterior segment. These abnormalities result in multiple tissue defects affecting the iris, cornea and drainage structures of the iridocorneal angle including the ciliary body, trabecular meshwork and Schlemm's canal. In some cases, abnormal ASD development leads to glaucoma, which is usually associated with increased intraocular pressure. Haploinsufficiency through mutation or chromosomal deletion of the human <italic>FOXC1</italic> transcription factor gene or duplications of the 6p25 region is associated with a spectrum of ocular abnormalities including ASD. However, mapping data and phenotype analysis of human deletions suggests that an additional locus for this condition may be present in the same chromosomal region as <italic>FOXC1</italic>. DHPLC screening of ENU mutagenised mouse archival tissue revealed five novel mouse <italic>Foxf2</italic> mutations. Re-derivation of one of these (the <italic>Foxf2</italic><sup>W174R</sup> mouse lineage) resulted in heterozygote mice that exhibited thinning of the iris stroma, hyperplasia of the trabecular meshwork, small or absent Schlemm's canal and a reduction in the iridocorneal angle. Homozygous E18.5 mice showed absence of ciliary body projections, demonstrating a critical role for <italic>Foxf2</italic> in the developing eye. These data provide evidence that the <italic>Foxf2</italic> gene, separated from <italic>Foxc1</italic> by less than 70 kb of genomic sequence (250 kb in human DNA), may explain human abnormalities in some cases of ASD where <italic>FOXC1</italic> has been excluded genetically.</p></div></front><back><div1 type="bibliography"><listBibl><biblStruct><analytic><author><name sortKey="Kupfer, C" uniqKey="Kupfer C">C Kupfer</name></author><author><name sortKey="Kaiser Kupfer, Mi" uniqKey="Kaiser Kupfer M">MI Kaiser-Kupfer</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Beauchamp, Gr" uniqKey="Beauchamp G">GR Beauchamp</name></author><author><name sortKey="Knepper, Pa" uniqKey="Knepper P">PA Knepper</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Jerndal, T" uniqKey="Jerndal T">T Jerndal</name></author></analytic></biblStruct><biblStruct><analytic><author><name sortKey="Weatherill, Jr" uniqKey="Weatherill J">JR 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sortKey="Carlsson, P" uniqKey="Carlsson P">P Carlsson</name></author></analytic></biblStruct></listBibl></div1></back></TEI><pmc article-type="research-article"><pmc-dir>properties open_access</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-ta">PLoS One</journal-id><journal-id journal-id-type="publisher-id">plos</journal-id><journal-id journal-id-type="pmc">plosone</journal-id><journal-title-group><journal-title>PLoS ONE</journal-title></journal-title-group><issn pub-type="epub">1932-6203</issn><publisher><publisher-name>Public Library of Science</publisher-name><publisher-loc>San Francisco, USA</publisher-loc></publisher></journal-meta><article-meta><article-id pub-id-type="pmid">22022403</article-id><article-id pub-id-type="pmc">3192754</article-id><article-id pub-id-type="publisher-id">PONE-D-11-12192</article-id><article-id pub-id-type="doi">10.1371/journal.pone.0025489</article-id><article-categories><subj-group subj-group-type="heading"><subject>Research Article</subject></subj-group><subj-group subj-group-type="Discipline-v2"><subject>Biology</subject><subj-group><subject>Anatomy and Physiology</subject><subj-group><subject>Ocular System</subject><subj-group><subject>Ocular Anatomy</subject></subj-group></subj-group></subj-group><subj-group><subject>Genetics</subject><subj-group><subject>Genetic Mutation</subject><subj-group><subject>Mutagenesis</subject></subj-group></subj-group><subj-group><subject>Gene Function</subject><subject>Genetic Screens</subject><subject>Genetics of Disease</subject></subj-group></subj-group><subj-group><subject>Genomics</subject><subj-group><subject>Functional Genomics</subject></subj-group></subj-group></subj-group><subj-group subj-group-type="Discipline-v2"><subject>Medicine</subject><subj-group><subject>Anatomy and Physiology</subject><subj-group><subject>Ocular System</subject><subj-group><subject>Ocular Anatomy</subject></subj-group></subj-group></subj-group><subj-group><subject>Clinical Genetics</subject><subj-group><subject>Chromosomal Disorders</subject><subj-group><subject>Chromosomal Deletions and Duplications</subject></subj-group></subj-group></subj-group><subj-group><subject>Ophthalmology</subject><subj-group><subject>Glaucoma</subject></subj-group></subj-group></subj-group></article-categories><title-group><article-title><italic>Foxf2</italic>: A Novel Locus for Anterior Segment Dysgenesis Adjacent to the <italic>Foxc1</italic> Gene</article-title><alt-title alt-title-type="running-head"><italic>Foxf2</italic>: A New Locus for Anterior Segment Dysgenesis</alt-title></title-group><contrib-group><contrib contrib-type="author"><name><surname>McKeone</surname><given-names>Richard</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref><xref ref-type="author-notes" rid="fn1"><sup>¤a</sup></xref></contrib><contrib contrib-type="author"><name><surname>Vieira</surname><given-names>Helena</given-names></name><xref ref-type="aff" rid="aff2"><sup>2</sup></xref><xref ref-type="author-notes" rid="fn2"><sup>¤b</sup></xref></contrib><contrib contrib-type="author"><name><surname>Gregory-Evans</surname><given-names>Kevin</given-names></name><xref ref-type="aff" rid="aff3"><sup>3</sup></xref></contrib><contrib contrib-type="author"><name><surname>Gregory-Evans</surname><given-names>Cheryl Y.</given-names></name><xref ref-type="aff" rid="aff3"><sup>3</sup></xref></contrib><contrib contrib-type="author"><name><surname>Denny</surname><given-names>Paul</given-names></name><xref ref-type="aff" rid="aff1"><sup>1</sup></xref><xref ref-type="corresp" rid="cor1"><sup>*</sup></xref></contrib></contrib-group><aff id="aff1"><label>1</label><addr-line>MRC Mammalian Genetics Unit, Harwell, Oxford, United Kingdom</addr-line></aff><aff id="aff2"><label>2</label><addr-line>Department of Cell and Molecular Biology, Faculty of Medicine, Imperial College London, London, United Kingdom</addr-line></aff><aff id="aff3"><label>3</label><addr-line>Department of Ophthalmology and Visual Sciences, University of British Columbia, Vancouver, British Columbia, Canada</addr-line></aff><contrib-group><contrib contrib-type="editor"><name><surname>Veitia</surname><given-names>Reiner Albert</given-names></name><role>Editor</role><xref ref-type="aff" rid="edit1"></xref></contrib></contrib-group><aff id="edit1">Institut Jacques Monod, France</aff><author-notes><corresp id="cor1">* E-mail: <email>paul.denny3@gmail.com</email></corresp><fn fn-type="con"><p>Conceived and designed the experiments: PD RM HV CYG-E. Performed the experiments: RM. Analyzed the data: RM CYG-E KG-E. Contributed reagents/materials/analysis tools: PD CYG-E. Wrote the paper: RM PD CYG-E.</p></fn><fn id="fn1" fn-type="current-aff"><label>¤a</label><p>Current address: Department of Molecular Ophthalmology, Lions Eye Institute, University of Western Australia, Perth, Australia</p></fn><fn id="fn2" fn-type="current-aff"><label>¤b</label><p>Current address: Bioalvo, Edifício ICAT - Campus da FCUL, Campo Grande, Lisbon, Portugal</p></fn></author-notes><pub-date pub-type="collection"><year>2011</year></pub-date><pub-date pub-type="epub"><day>13</day><month>10</month><year>2011</year></pub-date><volume>6</volume><issue>10</issue><elocation-id>e25489</elocation-id><history><date date-type="received"><day>29</day><month>6</month><year>2011</year></date><date date-type="accepted"><day>5</day><month>9</month><year>2011</year></date></history><permissions><copyright-statement>McKeone et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.</copyright-statement><copyright-year>2011</copyright-year></permissions><abstract><p>Anterior segment dysgenesis (ASD) is characterised by an abnormal migration of neural crest cells or an aberrant differentiation of the mesenchymal cells during the formation of the eye's anterior segment. These abnormalities result in multiple tissue defects affecting the iris, cornea and drainage structures of the iridocorneal angle including the ciliary body, trabecular meshwork and Schlemm's canal. In some cases, abnormal ASD development leads to glaucoma, which is usually associated with increased intraocular pressure. Haploinsufficiency through mutation or chromosomal deletion of the human <italic>FOXC1</italic> transcription factor gene or duplications of the 6p25 region is associated with a spectrum of ocular abnormalities including ASD. However, mapping data and phenotype analysis of human deletions suggests that an additional locus for this condition may be present in the same chromosomal region as <italic>FOXC1</italic>. DHPLC screening of ENU mutagenised mouse archival tissue revealed five novel mouse <italic>Foxf2</italic> mutations. Re-derivation of one of these (the <italic>Foxf2</italic><sup>W174R</sup> mouse lineage) resulted in heterozygote mice that exhibited thinning of the iris stroma, hyperplasia of the trabecular meshwork, small or absent Schlemm's canal and a reduction in the iridocorneal angle. Homozygous E18.5 mice showed absence of ciliary body projections, demonstrating a critical role for <italic>Foxf2</italic> in the developing eye. These data provide evidence that the <italic>Foxf2</italic> gene, separated from <italic>Foxc1</italic> by less than 70 kb of genomic sequence (250 kb in human DNA), may explain human abnormalities in some cases of ASD where <italic>FOXC1</italic> has been excluded genetically.</p></abstract><counts><page-count count="8"></page-count></counts></article-meta></front></pmc></record>Pour manipuler ce document sous Unix (Dilib)
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