Congenital syndactyly in cattle: four novel mutations in the low density lipoprotein receptor-related protein 4 gene (LRP4)
Identifieur interne : 009022 ( Main/Exploration ); précédent : 009021; suivant : 009023Congenital syndactyly in cattle: four novel mutations in the low density lipoprotein receptor-related protein 4 gene (LRP4)
Auteurs : Cord Drögemüller [Suisse, Allemagne] ; Tosso Leeb [Suisse] ; Barbara Harlizius [Allemagne] ; Imke Tammen [Allemagne, Australie] ; Ottmar Distl [Allemagne] ; Martin Höltershinken [Allemagne] ; Arcangelo Gentile [Italie] ; Amandine Duchesne [France] ; André Eggen [France]Source :
- BMC Genetics [ 1471-2156 ] ; 2007.
Abstract
Isolated syndactyly in cattle, also known as mulefoot, is inherited as an autosomal recessive trait with variable penetrance in different cattle breeds. Recently, two independent mutations in the bovine
We confirmed the previously described
We confirmed a significant role of
Url:
DOI: 10.1186/1471-2156-8-5
PubMed: 17319939
PubMed Central: 1810560
Affiliations:
- Allemagne, Australie, France, Italie, Suisse
- Basse-Saxe, Canton de Berne, Nouvelle-Galles du Sud
- Berne, Hanovre, Sydney
- Université de Sydney
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Le document en format XML
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University of Veterinary Medicine Hannover, Bünteweg 17p, 30559 Hannover, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Bünteweg 17p, 30559 Hannover</wicri:regionArea><placeName><region type="land" nuts="2">Basse-Saxe</region><settlement type="city">Hanovre</settlement></placeName></affiliation></author><author><name sortKey="Leeb, Tosso" sort="Leeb, Tosso" uniqKey="Leeb T" first="Tosso" last="Leeb">Tosso Leeb</name><affiliation wicri:level="1"><nlm:aff id="I1">Institute of Genetics, Vetsuisse Faculty, University of Berne, Bremgartenstrasse 109a, 3001 Berne, Switzerland</nlm:aff><country xml:lang="fr">Suisse</country><wicri:regionArea>Institute of Genetics, Vetsuisse Faculty, University of Berne, Bremgartenstrasse 109a, 3001 Berne</wicri:regionArea><placeName><settlement type="city">Berne</settlement><region type="région" nuts="3">Canton de Berne</region></placeName></affiliation></author><author><name sortKey="Harlizius, Barbara" sort="Harlizius, Barbara" uniqKey="Harlizius B" first="Barbara" last="Harlizius">Barbara Harlizius</name><affiliation wicri:level="3"><nlm:aff id="I2">Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Bünteweg 17p, 30559 Hannover, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Bünteweg 17p, 30559 Hannover</wicri:regionArea><placeName><region type="land" nuts="2">Basse-Saxe</region><settlement type="city">Hanovre</settlement></placeName></affiliation></author><author><name sortKey="Tammen, Imke" sort="Tammen, Imke" uniqKey="Tammen I" first="Imke" last="Tammen">Imke Tammen</name><affiliation wicri:level="3"><nlm:aff id="I2">Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Bünteweg 17p, 30559 Hannover, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Bünteweg 17p, 30559 Hannover</wicri:regionArea><placeName><region type="land" nuts="2">Basse-Saxe</region><settlement type="city">Hanovre</settlement></placeName></affiliation><affiliation wicri:level="4"><nlm:aff id="I3">Centre for Advanced Technologies in Animal Genetics and Reproduction (ReproGen), Faculty of Veterinary Science, The University of Sydney, Camden NSW 2570, Australia</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Centre for Advanced Technologies in Animal Genetics and Reproduction (ReproGen), Faculty of Veterinary Science, The University of Sydney, Camden NSW 2570</wicri:regionArea><orgName type="university">Université de Sydney</orgName><placeName><settlement type="city">Sydney</settlement><region type="état">Nouvelle-Galles du Sud</region></placeName></affiliation></author><author><name sortKey="Distl, Ottmar" sort="Distl, Ottmar" uniqKey="Distl O" first="Ottmar" last="Distl">Ottmar Distl</name><affiliation wicri:level="3"><nlm:aff id="I2">Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Bünteweg 17p, 30559 Hannover, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Institute for Animal Breeding and Genetics, University of Veterinary Medicine Hannover, Bünteweg 17p, 30559 Hannover</wicri:regionArea><placeName><region type="land" nuts="2">Basse-Saxe</region><settlement type="city">Hanovre</settlement></placeName></affiliation></author><author><name sortKey="Holtershinken, Martin" sort="Holtershinken, Martin" uniqKey="Holtershinken M" first="Martin" last="Höltershinken">Martin Höltershinken</name><affiliation wicri:level="3"><nlm:aff id="I4">Clinic for Cattle, University of Veterinary Medicine Hannover, Bünteweg 17p, 30559 Hannover, Germany</nlm:aff><country xml:lang="fr">Allemagne</country><wicri:regionArea>Clinic for Cattle, University of Veterinary Medicine Hannover, Bünteweg 17p, 30559 Hannover</wicri:regionArea><placeName><region type="land" nuts="2">Basse-Saxe</region><settlement type="city">Hanovre</settlement></placeName></affiliation></author><author><name sortKey="Gentile, Arcangelo" sort="Gentile, Arcangelo" uniqKey="Gentile A" first="Arcangelo" last="Gentile">Arcangelo Gentile</name><affiliation wicri:level="1"><nlm:aff id="I5">Veterinary Clinical Departement, University of Bologna, Via Tolara di Sopra 50, 40064 Ozzano dell'Emilia (Bologna), Italy</nlm:aff><country xml:lang="fr">Italie</country><wicri:regionArea>Veterinary Clinical Departement, University of Bologna, Via Tolara di Sopra 50, 40064 Ozzano dell'Emilia (Bologna)</wicri:regionArea><wicri:noRegion>40064 Ozzano dell'Emilia (Bologna)</wicri:noRegion></affiliation></author><author><name sortKey="Duchesne, Amandine" sort="Duchesne, Amandine" uniqKey="Duchesne A" first="Amandine" last="Duchesne">Amandine Duchesne</name><affiliation wicri:level="1"><nlm:aff id="I6">INRA, UR339 Laboratoire de Génétique Biochimique et de Cytogénétique, 78350 Jouy-en-Josas, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INRA, UR339 Laboratoire de Génétique Biochimique et de Cytogénétique, 78350 Jouy-en-Josas</wicri:regionArea><wicri:noRegion>78350 Jouy-en-Josas</wicri:noRegion><wicri:noRegion>78350 Jouy-en-Josas</wicri:noRegion></affiliation></author><author><name sortKey="Eggen, Andre" sort="Eggen, Andre" uniqKey="Eggen A" first="André" last="Eggen">André Eggen</name><affiliation wicri:level="1"><nlm:aff id="I6">INRA, UR339 Laboratoire de Génétique Biochimique et de Cytogénétique, 78350 Jouy-en-Josas, France</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>INRA, UR339 Laboratoire de Génétique Biochimique et de Cytogénétique, 78350 Jouy-en-Josas</wicri:regionArea><wicri:noRegion>78350 Jouy-en-Josas</wicri:noRegion><wicri:noRegion>78350 Jouy-en-Josas</wicri:noRegion></affiliation></author></analytic><series><title level="j">BMC Genetics</title><idno type="eISSN">1471-2156</idno><imprint><date when="2007">2007</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><sec><title>Background</title><p>Isolated syndactyly in cattle, also known as mulefoot, is inherited as an autosomal recessive trait with variable penetrance in different cattle breeds. Recently, two independent mutations in the bovine <italic>LRP4 </italic>gene have been reported as the primary cause of syndactyly in the Holstein and Angus cattle breeds.</p></sec><sec><title>Results</title><p>We confirmed the previously described <italic>LRP4 </italic>exon 33 two nucleotide substitution in most of the affected Holstein calves and revealed additional evidence for allelic heterogeneity by the identification of four new <italic>LRP4 </italic>non-synonymous point mutations co-segregating in Holstein, German Simmental and Simmental-Charolais families.</p></sec><sec><title>Conclusion</title><p>We confirmed a significant role of <italic>LRP4 </italic>mutations in the pathogenesis of congenital syndactyly in cattle. The newly detected missense mutations in the <italic>LRP4 </italic>gene represent independent mutations affecting different conserved protein domains. However, the four newly described <italic>LRP4 </italic>mutations do still not explain all analyzed cases of syndactyly.</p></sec></div></front><back><div1 type="bibliography"><listBibl><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct><biblStruct></biblStruct></listBibl></div1></back></TEI><affiliations><list><country><li>Allemagne</li><li>Australie</li><li>France</li><li>Italie</li><li>Suisse</li></country><region><li>Basse-Saxe</li><li>Canton de Berne</li><li>Nouvelle-Galles du Sud</li></region><settlement><li>Berne</li><li>Hanovre</li><li>Sydney</li></settlement><orgName><li>Université de Sydney</li></orgName></list><tree><country name="Suisse"><region name="Canton de Berne"><name sortKey="Drogemuller, Cord" sort="Drogemuller, Cord" uniqKey="Drogemuller C" first="Cord" last="Drögemüller">Cord Drögemüller</name></region><name sortKey="Leeb, Tosso" sort="Leeb, Tosso" uniqKey="Leeb T" first="Tosso" last="Leeb">Tosso Leeb</name></country><country name="Allemagne"><region name="Basse-Saxe"><name sortKey="Drogemuller, Cord" sort="Drogemuller, Cord" uniqKey="Drogemuller C" first="Cord" last="Drögemüller">Cord Drögemüller</name></region><name sortKey="Distl, Ottmar" sort="Distl, Ottmar" uniqKey="Distl O" first="Ottmar" last="Distl">Ottmar Distl</name><name sortKey="Harlizius, Barbara" sort="Harlizius, Barbara" uniqKey="Harlizius B" first="Barbara" last="Harlizius">Barbara Harlizius</name><name sortKey="Holtershinken, Martin" sort="Holtershinken, Martin" uniqKey="Holtershinken M" first="Martin" last="Höltershinken">Martin Höltershinken</name><name sortKey="Tammen, Imke" sort="Tammen, Imke" uniqKey="Tammen I" first="Imke" last="Tammen">Imke Tammen</name></country><country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Tammen, Imke" sort="Tammen, Imke" uniqKey="Tammen I" first="Imke" last="Tammen">Imke Tammen</name></region></country><country name="Italie"><noRegion><name sortKey="Gentile, Arcangelo" sort="Gentile, Arcangelo" uniqKey="Gentile A" first="Arcangelo" last="Gentile">Arcangelo Gentile</name></noRegion></country><country name="France"><noRegion><name sortKey="Duchesne, Amandine" sort="Duchesne, Amandine" uniqKey="Duchesne A" first="Amandine" last="Duchesne">Amandine Duchesne</name></noRegion><name sortKey="Eggen, Andre" sort="Eggen, Andre" uniqKey="Eggen A" first="André" last="Eggen">André Eggen</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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