Vascular defects in a mouse model of hypotrichosis-lymphedema-telangiectasia syndrome indicate a role for SOX18 in blood vessel maturation.
Identifieur interne : 003395 ( Ncbi/Merge ); précédent : 003394; suivant : 003396Vascular defects in a mouse model of hypotrichosis-lymphedema-telangiectasia syndrome indicate a role for SOX18 in blood vessel maturation.
Auteurs : Meredith Downes [Australie] ; Mathias François ; Charles Ferguson ; Robert G. Parton ; Peter KoopmanSource :
- Human molecular genetics [ 1460-2083 ] ; 2009.
Descripteurs français
- KwdFr :
- Animaux, Facteurs de transcription SOX-F (génétique), Facteurs de transcription SOX-F (métabolisme), Humains, Hypotrichose (embryologie), Hypotrichose (génétique), Hypotrichose (métabolisme), Hypotrichose (physiopathologie), Lymphoedème (embryologie), Lymphoedème (génétique), Lymphoedème (métabolisme), Lymphoedème (physiopathologie), Modèles animaux de maladie humaine, Mâle, Souris, Souris de lignée DBA, Télangiectasie (embryologie), Télangiectasie (génétique), Télangiectasie (métabolisme), Télangiectasie (physiopathologie), Vaisseaux sanguins (embryologie), Vaisseaux sanguins (malformations), Vaisseaux sanguins (métabolisme), Vaisseaux sanguins (physiopathologie).
- MESH :
- embryologie : Hypotrichose, Lymphoedème, Télangiectasie, Vaisseaux sanguins.
- génétique : Facteurs de transcription SOX-F, Hypotrichose, Lymphoedème, Télangiectasie.
- malformations : Vaisseaux sanguins.
- métabolisme : Facteurs de transcription SOX-F, Hypotrichose, Lymphoedème, Télangiectasie, Vaisseaux sanguins.
- physiopathologie : Hypotrichose, Lymphoedème, Télangiectasie, Vaisseaux sanguins.
- Animaux, Humains, Modèles animaux de maladie humaine, Mâle, Souris, Souris de lignée DBA.
English descriptors
- KwdEn :
- Animals, Blood Vessels (abnormalities), Blood Vessels (embryology), Blood Vessels (metabolism), Blood Vessels (physiopathology), Disease Models, Animal, Humans, Hypotrichosis (embryology), Hypotrichosis (genetics), Hypotrichosis (metabolism), Hypotrichosis (physiopathology), Lymphedema (embryology), Lymphedema (genetics), Lymphedema (metabolism), Lymphedema (physiopathology), Male, Mice, Mice, Inbred DBA, SOXF Transcription Factors (genetics), SOXF Transcription Factors (metabolism), Telangiectasis (embryology), Telangiectasis (genetics), Telangiectasis (metabolism), Telangiectasis (physiopathology).
- MESH :
- chemical , genetics : SOXF Transcription Factors.
- abnormalities : Blood Vessels.
- embryology : Blood Vessels, Hypotrichosis, Lymphedema, Telangiectasis.
- genetics : Hypotrichosis, Lymphedema, Telangiectasis.
- metabolism : Blood Vessels, Hypotrichosis, Lymphedema, SOXF Transcription Factors, Telangiectasis.
- physiopathology : Blood Vessels, Hypotrichosis, Lymphedema, Telangiectasis.
- Animals, Disease Models, Animal, Humans, Male, Mice, Mice, Inbred DBA.
Abstract
Mutations in the transcription factor gene SOX18 cause vascular, lymphatic and hair follicle defects in humans with dominant and recessive forms of hypotrichosis-lymphedema-telangiectasia (HLT) syndrome. Here, we clarify the role of SOX18 in the vascular dysfunction in HLT by ultrastructural, immunofluorescence, molecular and functional analysis of vascular anomalies in embryos of the naturally occurring Sox18-mutant mouse strain ragged-opossum (Ra(Op)). Early genesis and patterning of vasculature was unimpaired in Ra(Op) embryos, but surface capillaries became enlarged from 12.5 dpc and embryos developed massive surface hemorrhage by 14.5 dpc. Large focal breaches in the endothelial barrier were observed, in addition to endothelial hyperplasia associated with impaired pericyte recruitment to the microvasculature. Expression of the genes encoding the endothelial factors MMP7, IL7R and N-cadherin was reduced in Ra(Op) embryos, suggesting that these are downstream targets of SOX18. Together, our results indicate that vascular anomalies in HLT arise from defects in regulation of genes required for the acquisition of structural integrity during microvascular maturation.
DOI: 10.1093/hmg/ddp219
PubMed: 19429912
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Here, we clarify the role of SOX18 in the vascular dysfunction in HLT by ultrastructural, immunofluorescence, molecular and functional analysis of vascular anomalies in embryos of the naturally occurring Sox18-mutant mouse strain ragged-opossum (Ra(Op)). Early genesis and patterning of vasculature was unimpaired in Ra(Op) embryos, but surface capillaries became enlarged from 12.5 dpc and embryos developed massive surface hemorrhage by 14.5 dpc. Large focal breaches in the endothelial barrier were observed, in addition to endothelial hyperplasia associated with impaired pericyte recruitment to the microvasculature. Expression of the genes encoding the endothelial factors MMP7, IL7R and N-cadherin was reduced in Ra(Op) embryos, suggesting that these are downstream targets of SOX18. Together, our results indicate that vascular anomalies in HLT arise from defects in regulation of genes required for the acquisition of structural integrity during microvascular maturation.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">19429912</PMID><DateCreated><Year>2009</Year><Month>07</Month><Day>08</Day></DateCreated><DateCompleted><Year>2009</Year><Month>10</Month><Day>14</Day></DateCompleted><DateRevised><Year>2009</Year><Month>07</Month><Day>08</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Electronic">1460-2083</ISSN><JournalIssue CitedMedium="Internet"><Volume>18</Volume><Issue>15</Issue><PubDate><Year>2009</Year><Month>Aug</Month><Day>01</Day></PubDate></JournalIssue><Title>Human molecular genetics</Title><ISOAbbreviation>Hum. Mol. Genet.</ISOAbbreviation></Journal><ArticleTitle>Vascular defects in a mouse model of hypotrichosis-lymphedema-telangiectasia syndrome indicate a role for SOX18 in blood vessel maturation.</ArticleTitle><Pagination><MedlinePgn>2839-50</MedlinePgn></Pagination><ELocationID EIdType="doi" ValidYN="Y">10.1093/hmg/ddp219</ELocationID><Abstract><AbstractText>Mutations in the transcription factor gene SOX18 cause vascular, lymphatic and hair follicle defects in humans with dominant and recessive forms of hypotrichosis-lymphedema-telangiectasia (HLT) syndrome. Here, we clarify the role of SOX18 in the vascular dysfunction in HLT by ultrastructural, immunofluorescence, molecular and functional analysis of vascular anomalies in embryos of the naturally occurring Sox18-mutant mouse strain ragged-opossum (Ra(Op)). Early genesis and patterning of vasculature was unimpaired in Ra(Op) embryos, but surface capillaries became enlarged from 12.5 dpc and embryos developed massive surface hemorrhage by 14.5 dpc. Large focal breaches in the endothelial barrier were observed, in addition to endothelial hyperplasia associated with impaired pericyte recruitment to the microvasculature. Expression of the genes encoding the endothelial factors MMP7, IL7R and N-cadherin was reduced in Ra(Op) embryos, suggesting that these are downstream targets of SOX18. Together, our results indicate that vascular anomalies in HLT arise from defects in regulation of genes required for the acquisition of structural integrity during microvascular maturation.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Downes</LastName><ForeName>Meredith</ForeName><Initials>M</Initials><AffiliationInfo><Affiliation>Institute for Molecular Bioscience, The University of Queensland, Brisbane, QLD 4072, Australia.</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>François</LastName><ForeName>Mathias</ForeName><Initials>M</Initials></Author><Author ValidYN="Y"><LastName>Ferguson</LastName><ForeName>Charles</ForeName><Initials>C</Initials></Author><Author ValidYN="Y"><LastName>Parton</LastName><ForeName>Robert G</ForeName><Initials>RG</Initials></Author><Author ValidYN="Y"><LastName>Koopman</LastName><ForeName>Peter</ForeName><Initials>P</Initials></Author></AuthorList><Language>eng</Language><PublicationTypeList><PublicationType UI="D016428">Journal Article</PublicationType><PublicationType UI="D013485">Research Support, Non-U.S. Gov't</PublicationType></PublicationTypeList><ArticleDate DateType="Electronic"><Year>2009</Year><Month>05</Month><Day>09</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Hum Mol Genet</MedlineTA><NlmUniqueID>9208958</NlmUniqueID><ISSNLinking>0964-6906</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D055760">SOXF Transcription Factors</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C490653">Sox18 protein, mouse</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D000818" MajorTopicYN="N">Animals</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D001808" MajorTopicYN="N">Blood Vessels</DescriptorName><QualifierName UI="Q000002" MajorTopicYN="N">abnormalities</QualifierName><QualifierName UI="Q000196" MajorTopicYN="N">embryology</QualifierName><QualifierName UI="Q000378" MajorTopicYN="N">metabolism</QualifierName><QualifierName UI="Q000503" MajorTopicYN="Y">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D004195" MajorTopicYN="N">Disease Models, Animal</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006801" MajorTopicYN="N">Humans</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D007039" MajorTopicYN="N">Hypotrichosis</DescriptorName><QualifierName UI="Q000196" MajorTopicYN="N">embryology</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000378" MajorTopicYN="Y">metabolism</QualifierName><QualifierName UI="Q000503" MajorTopicYN="N">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000196" MajorTopicYN="N">embryology</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000378" MajorTopicYN="Y">metabolism</QualifierName><QualifierName UI="Q000503" MajorTopicYN="N">physiopathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D051379" MajorTopicYN="N">Mice</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008811" MajorTopicYN="N">Mice, Inbred DBA</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D055760" MajorTopicYN="N">SOXF Transcription Factors</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000378" MajorTopicYN="Y">metabolism</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D013684" MajorTopicYN="N">Telangiectasis</DescriptorName><QualifierName UI="Q000196" MajorTopicYN="N">embryology</QualifierName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000378" MajorTopicYN="Y">metabolism</QualifierName><QualifierName UI="Q000503" MajorTopicYN="N">physiopathology</QualifierName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="entrez"><Year>2009</Year><Month>5</Month><Day>12</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2009</Year><Month>5</Month><Day>12</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2009</Year><Month>10</Month><Day>15</Day><Hour>6</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">19429912</ArticleId><ArticleId IdType="pii">ddp219</ArticleId><ArticleId IdType="doi">10.1093/hmg/ddp219</ArticleId></ArticleIdList></PubmedData></pubmed><affiliations><list><country><li>Australie</li></country></list><tree><noCountry><name sortKey="Ferguson, Charles" sort="Ferguson, Charles" uniqKey="Ferguson C" first="Charles" last="Ferguson">Charles Ferguson</name><name sortKey="Francois, Mathias" sort="Francois, Mathias" uniqKey="Francois M" first="Mathias" last="François">Mathias François</name><name sortKey="Koopman, Peter" sort="Koopman, Peter" uniqKey="Koopman P" first="Peter" last="Koopman">Peter Koopman</name><name sortKey="Parton, Robert G" sort="Parton, Robert G" uniqKey="Parton R" first="Robert G" last="Parton">Robert G. Parton</name></noCountry><country name="Australie"><noRegion><name sortKey="Downes, Meredith" sort="Downes, Meredith" uniqKey="Downes M" first="Meredith" last="Downes">Meredith Downes</name></noRegion></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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