Evaluation of FOXC2 as a candidate gene for chronic progressive lymphedema in draft horses.
Identifieur interne : 003921 ( PubMed/Corpus ); précédent : 003920; suivant : 003922Evaluation of FOXC2 as a candidate gene for chronic progressive lymphedema in draft horses.
Auteurs : Amy E. Young ; Leslie P. Bower ; Verena K. Affolter ; Hilde E V. De Cock ; Gregory L. Ferraro ; Danika L. BannaschSource :
- Veterinary journal (London, England : 1997) [ 1090-0233 ] ; 2007.
English descriptors
- KwdEn :
- Age of Onset, Animals, Breeding, Chronic Disease, Extremities (pathology), Female, Forkhead Transcription Factors (genetics), Genetic Predisposition to Disease, Horse Diseases (genetics), Horse Diseases (pathology), Horses, Lymphedema (genetics), Lymphedema (pathology), Lymphedema (veterinary), Male, Mutation, Polymorphism, Single Nucleotide.
- MESH :
- chemical , genetics : Forkhead Transcription Factors.
- genetics : Horse Diseases, Lymphedema.
- pathology : Extremities, Horse Diseases, Lymphedema.
- veterinary : Lymphedema.
- Age of Onset, Animals, Breeding, Chronic Disease, Female, Genetic Predisposition to Disease, Horses, Male, Mutation, Polymorphism, Single Nucleotide.
Abstract
Chronic progressive lymphedema (CPL) is a debilitating condition identified in Clydesdales, Shires and Belgian draft horses and results in progressive swelling of the lower legs associated with the development of thick skin folds, ulcerations, fibrosis and marked hyperkeratosis. The result is severe discomfort and recurrent secondary infection, often requiring euthanasia. Due to the delayed onset, many horses are bred prior to diagnosis. CPL has only been documented in three related draft horse breeds, suggesting a genetic cause. Determining the molecular basis would enable owners to test horses prior to breeding and facilitate the elimination of CPL. Mutations in the FOXC2 gene cause a comparable condition in humans, lymphedema-distichiasis. This gene was sequenced in affected and unaffected draft horses and a control horse. Four single nucleotide polymorphisms (SNPs) were identified in unaffected draft horses and the control horse, indicating that they were not associated with CPL. A fifth SNP was seen in a single affected draft horse and the control horse. Since it was not seen in all affected draft horses, this SNP is not associated with the CPL phenotype.
DOI: 10.1016/j.tvjl.2006.05.023
PubMed: 16884936
Links to Exploration step
pubmed:16884936Le document en format XML
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De Cock</name></author><author><name sortKey="Ferraro, Gregory L" sort="Ferraro, Gregory L" uniqKey="Ferraro G" first="Gregory L" last="Ferraro">Gregory L. Ferraro</name></author><author><name sortKey="Bannasch, Danika L" sort="Bannasch, Danika L" uniqKey="Bannasch D" first="Danika L" last="Bannasch">Danika L. Bannasch</name></author></titleStmt><publicationStmt><idno type="wicri:source">PubMed</idno><date when="2007">2007</date><idno type="RBID">pubmed:16884936</idno><idno type="pmid">16884936</idno><idno type="doi">10.1016/j.tvjl.2006.05.023</idno><idno type="wicri:Area/PubMed/Corpus">003921</idno><idno type="wicri:explorRef" wicri:stream="PubMed" wicri:step="Corpus" wicri:corpus="PubMed">003921</idno></publicationStmt><sourceDesc><biblStruct><analytic><title xml:lang="en">Evaluation of FOXC2 as a candidate gene for chronic progressive lymphedema in draft horses.</title><author><name sortKey="Young, Amy E" sort="Young, Amy E" uniqKey="Young A" first="Amy E" last="Young">Amy E. Young</name><affiliation><nlm:affiliation>Department of Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, CA 95616, USA. ayoung@ucdavis.edu</nlm:affiliation></affiliation></author><author><name sortKey="Bower, Leslie P" sort="Bower, Leslie P" uniqKey="Bower L" first="Leslie P" last="Bower">Leslie P. Bower</name></author><author><name sortKey="Affolter, Verena K" sort="Affolter, Verena K" uniqKey="Affolter V" first="Verena K" last="Affolter">Verena K. Affolter</name></author><author><name sortKey="De Cock, Hilde E V" sort="De Cock, Hilde E V" uniqKey="De Cock H" first="Hilde E V" last="De Cock">Hilde E V. De Cock</name></author><author><name sortKey="Ferraro, Gregory L" sort="Ferraro, Gregory L" uniqKey="Ferraro G" first="Gregory L" last="Ferraro">Gregory L. Ferraro</name></author><author><name sortKey="Bannasch, Danika L" sort="Bannasch, Danika L" uniqKey="Bannasch D" first="Danika L" last="Bannasch">Danika L. Bannasch</name></author></analytic><series><title level="j">Veterinary journal (London, England : 1997)</title><idno type="ISSN">1090-0233</idno><imprint><date when="2007" type="published">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass><keywords scheme="KwdEn" xml:lang="en"><term>Age of Onset</term><term>Animals</term><term>Breeding</term><term>Chronic Disease</term><term>Extremities (pathology)</term><term>Female</term><term>Forkhead Transcription Factors (genetics)</term><term>Genetic Predisposition to Disease</term><term>Horse Diseases (genetics)</term><term>Horse Diseases (pathology)</term><term>Horses</term><term>Lymphedema (genetics)</term><term>Lymphedema (pathology)</term><term>Lymphedema (veterinary)</term><term>Male</term><term>Mutation</term><term>Polymorphism, Single Nucleotide</term></keywords><keywords scheme="MESH" type="chemical" qualifier="genetics" xml:lang="en"><term>Forkhead Transcription Factors</term></keywords><keywords scheme="MESH" qualifier="genetics" xml:lang="en"><term>Horse Diseases</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="pathology" xml:lang="en"><term>Extremities</term><term>Horse Diseases</term><term>Lymphedema</term></keywords><keywords scheme="MESH" qualifier="veterinary" xml:lang="en"><term>Lymphedema</term></keywords><keywords scheme="MESH" xml:lang="en"><term>Age of Onset</term><term>Animals</term><term>Breeding</term><term>Chronic Disease</term><term>Female</term><term>Genetic Predisposition to Disease</term><term>Horses</term><term>Male</term><term>Mutation</term><term>Polymorphism, Single Nucleotide</term></keywords></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en">Chronic progressive lymphedema (CPL) is a debilitating condition identified in Clydesdales, Shires and Belgian draft horses and results in progressive swelling of the lower legs associated with the development of thick skin folds, ulcerations, fibrosis and marked hyperkeratosis. The result is severe discomfort and recurrent secondary infection, often requiring euthanasia. Due to the delayed onset, many horses are bred prior to diagnosis. CPL has only been documented in three related draft horse breeds, suggesting a genetic cause. Determining the molecular basis would enable owners to test horses prior to breeding and facilitate the elimination of CPL. Mutations in the FOXC2 gene cause a comparable condition in humans, lymphedema-distichiasis. This gene was sequenced in affected and unaffected draft horses and a control horse. Four single nucleotide polymorphisms (SNPs) were identified in unaffected draft horses and the control horse, indicating that they were not associated with CPL. A fifth SNP was seen in a single affected draft horse and the control horse. Since it was not seen in all affected draft horses, this SNP is not associated with the CPL phenotype.</div></front></TEI><pubmed><MedlineCitation Status="MEDLINE" Owner="NLM"><PMID Version="1">16884936</PMID><DateCreated><Year>2007</Year><Month>10</Month><Day>23</Day></DateCreated><DateCompleted><Year>2007</Year><Month>11</Month><Day>29</Day></DateCompleted><DateRevised><Year>2007</Year><Month>10</Month><Day>23</Day></DateRevised><Article PubModel="Print-Electronic"><Journal><ISSN IssnType="Print">1090-0233</ISSN><JournalIssue CitedMedium="Print"><Volume>174</Volume><Issue>2</Issue><PubDate><Year>2007</Year><Month>Sep</Month></PubDate></JournalIssue><Title>Veterinary journal (London, England : 1997)</Title><ISOAbbreviation>Vet. J.</ISOAbbreviation></Journal><ArticleTitle>Evaluation of FOXC2 as a candidate gene for chronic progressive lymphedema in draft horses.</ArticleTitle><Pagination><MedlinePgn>397-9</MedlinePgn></Pagination><Abstract><AbstractText>Chronic progressive lymphedema (CPL) is a debilitating condition identified in Clydesdales, Shires and Belgian draft horses and results in progressive swelling of the lower legs associated with the development of thick skin folds, ulcerations, fibrosis and marked hyperkeratosis. The result is severe discomfort and recurrent secondary infection, often requiring euthanasia. Due to the delayed onset, many horses are bred prior to diagnosis. CPL has only been documented in three related draft horse breeds, suggesting a genetic cause. Determining the molecular basis would enable owners to test horses prior to breeding and facilitate the elimination of CPL. Mutations in the FOXC2 gene cause a comparable condition in humans, lymphedema-distichiasis. This gene was sequenced in affected and unaffected draft horses and a control horse. Four single nucleotide polymorphisms (SNPs) were identified in unaffected draft horses and the control horse, indicating that they were not associated with CPL. A fifth SNP was seen in a single affected draft horse and the control horse. Since it was not seen in all affected draft horses, this SNP is not associated with the CPL phenotype.</AbstractText></Abstract><AuthorList CompleteYN="Y"><Author ValidYN="Y"><LastName>Young</LastName><ForeName>Amy E</ForeName><Initials>AE</Initials><AffiliationInfo><Affiliation>Department of Population Health and Reproduction, School of Veterinary Medicine, University of California, Davis, CA 95616, USA. ayoung@ucdavis.edu</Affiliation></AffiliationInfo></Author><Author ValidYN="Y"><LastName>Bower</LastName><ForeName>Leslie P</ForeName><Initials>LP</Initials></Author><Author ValidYN="Y"><LastName>Affolter</LastName><ForeName>Verena K</ForeName><Initials>VK</Initials></Author><Author ValidYN="Y"><LastName>De Cock</LastName><ForeName>Hilde E V</ForeName><Initials>HE</Initials></Author><Author ValidYN="Y"><LastName>Ferraro</LastName><ForeName>Gregory L</ForeName><Initials>GL</Initials></Author><Author ValidYN="Y"><LastName>Bannasch</LastName><ForeName>Danika L</ForeName><Initials>DL</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>2006</Year><Month>08</Month><Day>01</Day></ArticleDate></Article><MedlineJournalInfo><Country>England</Country><MedlineTA>Vet J</MedlineTA><NlmUniqueID>9706281</NlmUniqueID><ISSNLinking>1090-0233</ISSNLinking></MedlineJournalInfo><ChemicalList><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="D051858">Forkhead Transcription Factors</NameOfSubstance></Chemical><Chemical><RegistryNumber>0</RegistryNumber><NameOfSubstance UI="C082078">mesenchyme fork head 1 protein</NameOfSubstance></Chemical></ChemicalList><CitationSubset>IM</CitationSubset><MeshHeadingList><MeshHeading><DescriptorName UI="D017668" MajorTopicYN="N">Age of Onset</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D000818" MajorTopicYN="N">Animals</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D001947" MajorTopicYN="N">Breeding</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D002908" MajorTopicYN="N">Chronic Disease</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D005121" MajorTopicYN="N">Extremities</DescriptorName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D005260" MajorTopicYN="N">Female</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D051858" MajorTopicYN="N">Forkhead Transcription Factors</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D020022" MajorTopicYN="N">Genetic Predisposition to Disease</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D006734" MajorTopicYN="N">Horse Diseases</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="Y">genetics</QualifierName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D006736" MajorTopicYN="N">Horses</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D008209" MajorTopicYN="N">Lymphedema</DescriptorName><QualifierName UI="Q000235" MajorTopicYN="N">genetics</QualifierName><QualifierName UI="Q000473" MajorTopicYN="N">pathology</QualifierName><QualifierName UI="Q000662" MajorTopicYN="Y">veterinary</QualifierName></MeshHeading><MeshHeading><DescriptorName UI="D008297" MajorTopicYN="N">Male</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D009154" MajorTopicYN="N">Mutation</DescriptorName></MeshHeading><MeshHeading><DescriptorName UI="D020641" MajorTopicYN="Y">Polymorphism, Single Nucleotide</DescriptorName></MeshHeading></MeshHeadingList></MedlineCitation><PubmedData><History><PubMedPubDate PubStatus="received"><Year>2006</Year><Month>04</Month><Day>13</Day></PubMedPubDate><PubMedPubDate PubStatus="revised"><Year>2006</Year><Month>05</Month><Day>12</Day></PubMedPubDate><PubMedPubDate PubStatus="accepted"><Year>2006</Year><Month>05</Month><Day>27</Day></PubMedPubDate><PubMedPubDate PubStatus="pubmed"><Year>2006</Year><Month>8</Month><Day>4</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="medline"><Year>2007</Year><Month>12</Month><Day>6</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate><PubMedPubDate PubStatus="entrez"><Year>2006</Year><Month>8</Month><Day>4</Day><Hour>9</Hour><Minute>0</Minute></PubMedPubDate></History><PublicationStatus>ppublish</PublicationStatus><ArticleIdList><ArticleId IdType="pubmed">16884936</ArticleId><ArticleId IdType="pii">S1090-0233(06)00121-3</ArticleId><ArticleId IdType="doi">10.1016/j.tvjl.2006.05.023</ArticleId></ArticleIdList></PubmedData></pubmed></record>Pour manipuler ce document sous Unix (Dilib)
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