Pedigree Analysis and Exclusion of Alpha-Tocopherol Transfer Protein (TTPA) as a Candidate Gene for Neuroaxonal Dystrophy in the American Quarter Horse
Identifieur interne : 003837 ( Pmc/Corpus ); précédent : 003836; suivant : 003838Pedigree Analysis and Exclusion of Alpha-Tocopherol Transfer Protein (TTPA) as a Candidate Gene for Neuroaxonal Dystrophy in the American Quarter Horse
Auteurs : C. J. Finno ; T. Famula ; M. Aleman ; R. J. Higgins ; J. E. Madigan ; D. L. BannaschSource :
- Journal of veterinary internal medicine / American College of Veterinary Internal Medicine [ 0891-6640 ] ; 2012.
Abstract
Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (NAD/EDM) is a neurodegenerative disorder affecting young horses of various breeds that resembles ataxia with vitamin E deficiency in humans, an inherited disorder caused by mutations in the alpha-tocopherol transfer protein gene (
NAD/EDM in the American Quarter Horse (QH) is caused by a mutation in
88 clinically phenotyped (35 affected [ataxia score ≥2], 53 unaffected) QHs with a diagnosis of NAD/EDM with 6 affected and 4 unaffected cases confirmed at postmortem examination.
Pedigrees and genotypes across 54,000 single nucleotide polymorphism (SNP) markers were assessed to determine heritability and mode of inheritance of NAD/EDM.
Equine NAD/EDM appears to be inherited as a polygenic trait and, within this family of QHs, demonstrates high heritability. Sequencing of
NAD/EDM demonstrates heritability in this family of QHs. Variants in
Url:
DOI: 10.1111/jvim.12015
PubMed: 23186252
PubMed Central: 4557866
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PMC:4557866Le document en format XML
<record><TEI><teiHeader><fileDesc><titleStmt><title xml:lang="en">Pedigree Analysis and Exclusion of Alpha-Tocopherol Transfer Protein (<italic>TTPA</italic>
) as a Candidate Gene for Neuroaxonal Dystrophy in the American Quarter Horse</title>
<author><name sortKey="Finno, C J" sort="Finno, C J" uniqKey="Finno C" first="C. J." last="Finno">C. J. Finno</name>
</author>
<author><name sortKey="Famula, T" sort="Famula, T" uniqKey="Famula T" first="T." last="Famula">T. Famula</name>
</author>
<author><name sortKey="Aleman, M" sort="Aleman, M" uniqKey="Aleman M" first="M." last="Aleman">M. Aleman</name>
</author>
<author><name sortKey="Higgins, R J" sort="Higgins, R J" uniqKey="Higgins R" first="R. J." last="Higgins">R. J. Higgins</name>
</author>
<author><name sortKey="Madigan, J E" sort="Madigan, J E" uniqKey="Madigan J" first="J. E." last="Madigan">J. E. Madigan</name>
</author>
<author><name sortKey="Bannasch, D L" sort="Bannasch, D L" uniqKey="Bannasch D" first="D. L." last="Bannasch">D. L. Bannasch</name>
</author>
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<sourceDesc><biblStruct><analytic><title xml:lang="en" level="a" type="main">Pedigree Analysis and Exclusion of Alpha-Tocopherol Transfer Protein (<italic>TTPA</italic>
) as a Candidate Gene for Neuroaxonal Dystrophy in the American Quarter Horse</title>
<author><name sortKey="Finno, C J" sort="Finno, C J" uniqKey="Finno C" first="C. J." last="Finno">C. J. Finno</name>
</author>
<author><name sortKey="Famula, T" sort="Famula, T" uniqKey="Famula T" first="T." last="Famula">T. Famula</name>
</author>
<author><name sortKey="Aleman, M" sort="Aleman, M" uniqKey="Aleman M" first="M." last="Aleman">M. Aleman</name>
</author>
<author><name sortKey="Higgins, R J" sort="Higgins, R J" uniqKey="Higgins R" first="R. J." last="Higgins">R. J. Higgins</name>
</author>
<author><name sortKey="Madigan, J E" sort="Madigan, J E" uniqKey="Madigan J" first="J. E." last="Madigan">J. E. Madigan</name>
</author>
<author><name sortKey="Bannasch, D L" sort="Bannasch, D L" uniqKey="Bannasch D" first="D. L." last="Bannasch">D. L. Bannasch</name>
</author>
</analytic>
<series><title level="j">Journal of veterinary internal medicine / American College of Veterinary Internal Medicine</title>
<idno type="ISSN">0891-6640</idno>
<idno type="eISSN">1939-1676</idno>
<imprint><date when="2012">2012</date>
</imprint>
</series>
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</sourceDesc>
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<front><div type="abstract" xml:lang="en"><sec id="S1"><title>Background</title>
<p id="P1">Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (NAD/EDM) is a neurodegenerative disorder affecting young horses of various breeds that resembles ataxia with vitamin E deficiency in humans, an inherited disorder caused by mutations in the alpha-tocopherol transfer protein gene (<italic>TTPA</italic>
). To evaluate variants found upon sequencing <italic>TTPA</italic>
in the horse, the mode of inheritance for NAD/EDM had to be established.</p>
</sec>
<sec id="S2"><title>Hypothesis</title>
<p id="P2">NAD/EDM in the American Quarter Horse (QH) is caused by a mutation in <italic>TTPA</italic>
.</p>
</sec>
<sec id="S3"><title>Animals</title>
<p id="P3">88 clinically phenotyped (35 affected [ataxia score ≥2], 53 unaffected) QHs with a diagnosis of NAD/EDM with 6 affected and 4 unaffected cases confirmed at postmortem examination.</p>
</sec>
<sec id="S4"><title>Procedures</title>
<p id="P4">Pedigrees and genotypes across 54,000 single nucleotide polymorphism (SNP) markers were assessed to determine heritability and mode of inheritance of NAD/EDM. <italic>TTPA</italic>
sequence of exon/intron boundaries was evaluated in 2 affected and 2 control horses. An association analysis was performed by 71 SNPs surrounding <italic>TTPA</italic>
and 8 SNPs within <italic>TTPA</italic>
that were discovered by sequencing. RT-PCR for <italic>TTPA</italic>
was performed on mRNA from the liver of 4 affected and 4 control horses.</p>
</sec>
<sec id="S5"><title>Results</title>
<p id="P5">Equine NAD/EDM appears to be inherited as a polygenic trait and, within this family of QHs, demonstrates high heritability. Sequencing of <italic>TTPA</italic>
identified 12 variants. No significant association was found using the 79 available variants in and surrounding <italic>TTPA</italic>
. RT-PCR yielded PCR products of equivalent sizes between affected cases and controls.</p>
</sec>
<sec id="S6"><title>Conclusions and Clinical Importance</title>
<p id="P6">NAD/EDM demonstrates heritability in this family of QHs. Variants in <italic>TTPA</italic>
are not responsible for NAD/EDM in this study population.</p>
</sec>
</div>
</front>
</TEI>
<pmc article-type="research-article"><pmc-comment>The publisher of this article does not allow downloading of the full text in XML form.</pmc-comment>
<pmc-dir>properties manuscript</pmc-dir>
<front><journal-meta><journal-id journal-id-type="nlm-journal-id">8708660</journal-id>
<journal-id journal-id-type="pubmed-jr-id">5227</journal-id>
<journal-id journal-id-type="nlm-ta">J Vet Intern Med</journal-id>
<journal-id journal-id-type="iso-abbrev">J. Vet. Intern. Med.</journal-id>
<journal-title-group><journal-title>Journal of veterinary internal medicine / American College of Veterinary Internal Medicine</journal-title>
</journal-title-group>
<issn pub-type="ppub">0891-6640</issn>
<issn pub-type="epub">1939-1676</issn>
</journal-meta>
<article-meta><article-id pub-id-type="pmid">23186252</article-id>
<article-id pub-id-type="pmc">4557866</article-id>
<article-id pub-id-type="doi">10.1111/jvim.12015</article-id>
<article-id pub-id-type="manuscript">NIHMS419351</article-id>
<article-categories><subj-group subj-group-type="heading"><subject>Article</subject>
</subj-group>
</article-categories>
<title-group><article-title>Pedigree Analysis and Exclusion of Alpha-Tocopherol Transfer Protein (<italic>TTPA</italic>
) as a Candidate Gene for Neuroaxonal Dystrophy in the American Quarter Horse</article-title>
</title-group>
<contrib-group><contrib contrib-type="author"><name><surname>Finno</surname>
<given-names>C.J.</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Famula</surname>
<given-names>T.</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Aleman</surname>
<given-names>M.</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Higgins</surname>
<given-names>R.J.</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Madigan</surname>
<given-names>J.E.</given-names>
</name>
</contrib>
<contrib contrib-type="author"><name><surname>Bannasch</surname>
<given-names>D.L.</given-names>
</name>
</contrib>
<aff id="A1">Department of Population Health and Reproduction, School of Veterinary Medicine, University of California-Davis, Davis, CA (Finno, Bannasch); the Department of Animal Science, School of Veterinary Medicine, University of California-Davis, Davis, CA (Famula); the William R. Pritchard Veterinary Medical Teaching Hospital, School of Veterinary Medicine, University of California-Davis, Davis, CA (Aleman); the Department of Pathology, Microbiology and Immunology, School of Veterinary Medicine, University of California-Davis, Davis, CA (Higgins); and the Department of Medicine and Epidemiology, School of Veterinary Medicine, University of California-Davis, Davis, CA (Madigan)</aff>
</contrib-group>
<author-notes><corresp id="cor1">Corresponding author: Dr C. Finno, University of Minnesota CVM, 1365 Gortner Ave, St. Paul, MN 55108; <email>finn0100@umn.edu</email>
</corresp>
</author-notes>
<pub-date pub-type="nihms-submitted"><day>29</day>
<month>8</month>
<year>2015</year>
</pub-date>
<pub-date pub-type="epub"><day>27</day>
<month>11</month>
<year>2012</year>
</pub-date>
<pub-date pub-type="ppub"><season>Jan-Feb</season>
<year>2013</year>
</pub-date>
<pub-date pub-type="pmc-release"><day>02</day>
<month>9</month>
<year>2015</year>
</pub-date>
<volume>27</volume>
<issue>1</issue>
<fpage>177</fpage>
<lpage>185</lpage>
<pmc-comment>elocation-id from pubmed: 10.1111/jvim.12015</pmc-comment>
<abstract><sec id="S1"><title>Background</title>
<p id="P1">Equine neuroaxonal dystrophy/equine degenerative myeloencephalopathy (NAD/EDM) is a neurodegenerative disorder affecting young horses of various breeds that resembles ataxia with vitamin E deficiency in humans, an inherited disorder caused by mutations in the alpha-tocopherol transfer protein gene (<italic>TTPA</italic>
). To evaluate variants found upon sequencing <italic>TTPA</italic>
in the horse, the mode of inheritance for NAD/EDM had to be established.</p>
</sec>
<sec id="S2"><title>Hypothesis</title>
<p id="P2">NAD/EDM in the American Quarter Horse (QH) is caused by a mutation in <italic>TTPA</italic>
.</p>
</sec>
<sec id="S3"><title>Animals</title>
<p id="P3">88 clinically phenotyped (35 affected [ataxia score ≥2], 53 unaffected) QHs with a diagnosis of NAD/EDM with 6 affected and 4 unaffected cases confirmed at postmortem examination.</p>
</sec>
<sec id="S4"><title>Procedures</title>
<p id="P4">Pedigrees and genotypes across 54,000 single nucleotide polymorphism (SNP) markers were assessed to determine heritability and mode of inheritance of NAD/EDM. <italic>TTPA</italic>
sequence of exon/intron boundaries was evaluated in 2 affected and 2 control horses. An association analysis was performed by 71 SNPs surrounding <italic>TTPA</italic>
and 8 SNPs within <italic>TTPA</italic>
that were discovered by sequencing. RT-PCR for <italic>TTPA</italic>
was performed on mRNA from the liver of 4 affected and 4 control horses.</p>
</sec>
<sec id="S5"><title>Results</title>
<p id="P5">Equine NAD/EDM appears to be inherited as a polygenic trait and, within this family of QHs, demonstrates high heritability. Sequencing of <italic>TTPA</italic>
identified 12 variants. No significant association was found using the 79 available variants in and surrounding <italic>TTPA</italic>
. RT-PCR yielded PCR products of equivalent sizes between affected cases and controls.</p>
</sec>
<sec id="S6"><title>Conclusions and Clinical Importance</title>
<p id="P6">NAD/EDM demonstrates heritability in this family of QHs. Variants in <italic>TTPA</italic>
are not responsible for NAD/EDM in this study population.</p>
</sec>
</abstract>
<kwd-group><kwd>Alpha-tocopherol</kwd>
<kwd>Equine</kwd>
<kwd>Genetics</kwd>
<kwd>Vitamin E</kwd>
</kwd-group>
</article-meta>
</front>
</pmc>
</record>
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