Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient
Identifieur interne : 009828 ( Main/Exploration ); précédent : 009827; suivant : 009829Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient
Auteurs : François Rousseau [France] ; Jean-François Gauchat [Canada] ; James G. Mcleod [Australie] ; Sylvie Chevalier [France] ; Catherine Guillet [France] ; Florence Guilhot [Canada] ; Isabelle Cognet [Canada] ; Josy Froger [France] ; Angelika F. Hahn [Canada] ; Per M. Knappskog [Norvège] ; Hugues Gascan [France] ; Helge Boman [Norvège]Source :
- Proceedings of the National Academy of Sciences of the United States of America [ 0027-8424 ] ; 2006.
Abstract
Ciliary neurotrophic factor (CNTF) receptor controls a pathway supporting the differentiation and survival of a wide range of neural cell types during development and in adulthood. Cardiotrophin-like cytokine (CLC)–cytokine-like factor 1 (CLF) composite cytokine is a second ligand for the CNTF α-component receptor (CNTFRα). This composite cytokine is built on the structural model of IL-12, with a complex formed by a four-helix bundle type I cytokine, CLC (also referred to as
Url:
DOI: 10.1073/pnas.0509598103
PubMed: 16782820
PubMed Central: 1502507
Affiliations:
- Australie, Canada, France, Norvège
- Nouvelle-Galles du Sud, Pays de la Loire
- Angers, Sydney
- Université de Sydney
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Le document en format XML
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Mcleod</name><affiliation wicri:level="4"><nlm:aff id="aff3">Institute of Clinical Neuroscience, Royal Prince Alfred Hospital, University of Sydney, NSW 2006, Australia;</nlm:aff><country xml:lang="fr">Australie</country><wicri:regionArea>Institute of Clinical Neuroscience, Royal Prince Alfred Hospital, University of Sydney, NSW 2006</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="Chevalier, Sylvie" sort="Chevalier, Sylvie" uniqKey="Chevalier S" first="Sylvie" last="Chevalier">Sylvie Chevalier</name><affiliation wicri:level="1"><nlm:aff id="aff1">*Institut National de la Santé et de la Recherche Médicale, U564, F-49033 Angers, France;</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>*Institut National de la Santé et de la Recherche Médicale, U564, F-49033 Angers</wicri:regionArea><wicri:noRegion>49033 Angers</wicri:noRegion><wicri:noRegion>49033 Angers</wicri:noRegion></affiliation></author><author><name sortKey="Guillet, Catherine" sort="Guillet, Catherine" uniqKey="Guillet C" first="Catherine" last="Guillet">Catherine Guillet</name><affiliation wicri:level="1"><nlm:aff id="aff1">*Institut National de la Santé et de la Recherche Médicale, U564, F-49033 Angers, France;</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>*Institut National de la Santé et de la Recherche Médicale, U564, F-49033 Angers</wicri:regionArea><wicri:noRegion>49033 Angers</wicri:noRegion><wicri:noRegion>49033 Angers</wicri:noRegion></affiliation></author><author><name sortKey="Guilhot, Florence" sort="Guilhot, Florence" uniqKey="Guilhot F" first="Florence" last="Guilhot">Florence Guilhot</name><affiliation wicri:level="1"><nlm:aff id="aff2">Département de Pharmacologie, Institut National de la Santé et de la Recherche Médicale, U743, Université de Montréal, CP 6128, Succursale Centre-ville, Montréal, QC, Canada H3C 3J7;</nlm:aff><country>Canada</country><wicri:regionArea>Département de Pharmacologie, Institut National de la Santé et de la Recherche Médicale, U743, Université de Montréal, CP 6128, Succursale Centre-ville, Montréal, QC</wicri:regionArea><wicri:noRegion>QC</wicri:noRegion></affiliation></author><author><name sortKey="Cognet, Isabelle" sort="Cognet, Isabelle" uniqKey="Cognet I" first="Isabelle" last="Cognet">Isabelle Cognet</name><affiliation wicri:level="1"><nlm:aff id="aff2">Département de Pharmacologie, Institut National de la Santé et de la Recherche Médicale, U743, Université de Montréal, CP 6128, Succursale Centre-ville, Montréal, QC, Canada H3C 3J7;</nlm:aff><country>Canada</country><wicri:regionArea>Département de Pharmacologie, Institut National de la Santé et de la Recherche Médicale, U743, Université de Montréal, CP 6128, Succursale Centre-ville, Montréal, QC</wicri:regionArea><wicri:noRegion>QC</wicri:noRegion></affiliation></author><author><name sortKey="Froger, Josy" sort="Froger, Josy" uniqKey="Froger J" first="Josy" last="Froger">Josy Froger</name><affiliation wicri:level="1"><nlm:aff id="aff1">*Institut National de la Santé et de la Recherche Médicale, U564, F-49033 Angers, France;</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>*Institut National de la Santé et de la Recherche Médicale, U564, F-49033 Angers</wicri:regionArea><wicri:noRegion>49033 Angers</wicri:noRegion><wicri:noRegion>49033 Angers</wicri:noRegion></affiliation></author><author><name sortKey="Hahn, Angelika F" sort="Hahn, Angelika F" uniqKey="Hahn A" first="Angelika F." last="Hahn">Angelika F. Hahn</name><affiliation wicri:level="1"><nlm:aff id="aff4">Department of Clinical Neurological Sciences, London Health Science Center, University of Western Ontario, London, ON, Canada N6A 5C2;</nlm:aff><country>Canada</country><wicri:regionArea>Department of Clinical Neurological Sciences, London Health Science Center, University of Western Ontario, London, ON</wicri:regionArea><wicri:noRegion>ON</wicri:noRegion></affiliation></author><author><name sortKey="Knappskog, Per M" sort="Knappskog, Per M" uniqKey="Knappskog P" first="Per M." last="Knappskog">Per M. Knappskog</name><affiliation wicri:level="1"><nlm:aff wicri:cut="; and" id="aff5">Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, 5021 Bergen, Norway</nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, 5021 Bergen</wicri:regionArea><wicri:noRegion>5021 Bergen</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff id="aff6">**Section of Medical Genetics and Molecular Medicine, Department of Clinical Medicine, University of Bergen, 5007 Bergen, Norway</nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>**Section of Medical Genetics and Molecular Medicine, Department of Clinical Medicine, University of Bergen, 5007 Bergen</wicri:regionArea><wicri:noRegion>5007 Bergen</wicri:noRegion></affiliation></author><author><name sortKey="Gascan, Hugues" sort="Gascan, Hugues" uniqKey="Gascan H" first="Hugues" last="Gascan">Hugues Gascan</name><affiliation wicri:level="1"><nlm:aff id="aff1">*Institut National de la Santé et de la Recherche Médicale, U564, F-49033 Angers, France;</nlm:aff><country xml:lang="fr">France</country><wicri:regionArea>*Institut National de la Santé et de la Recherche Médicale, U564, F-49033 Angers</wicri:regionArea><wicri:noRegion>49033 Angers</wicri:noRegion><wicri:noRegion>49033 Angers</wicri:noRegion></affiliation></author><author><name sortKey="Boman, Helge" sort="Boman, Helge" uniqKey="Boman H" first="Helge" last="Boman">Helge Boman</name><affiliation wicri:level="1"><nlm:aff id="aff6">**Section of Medical Genetics and Molecular Medicine, Department of Clinical Medicine, University of Bergen, 5007 Bergen, Norway</nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>**Section of Medical Genetics and Molecular Medicine, Department of Clinical Medicine, University of Bergen, 5007 Bergen</wicri:regionArea><wicri:noRegion>5007 Bergen</wicri:noRegion></affiliation><affiliation wicri:level="1"><nlm:aff wicri:cut="; and" id="aff5">Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, 5021 Bergen, Norway</nlm:aff><country xml:lang="fr">Norvège</country><wicri:regionArea>Center for Medical Genetics and Molecular Medicine, Haukeland University Hospital, 5021 Bergen</wicri:regionArea><wicri:noRegion>5021 Bergen</wicri:noRegion></affiliation></author></analytic><series><title level="j">Proceedings of the National Academy of Sciences of the United States of America</title><idno type="ISSN">0027-8424</idno><idno type="eISSN">1091-6490</idno><imprint><date when="2006">2006</date></imprint></series></biblStruct></sourceDesc></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract" xml:lang="en"><p>Ciliary neurotrophic factor (CNTF) receptor controls a pathway supporting the differentiation and survival of a wide range of neural cell types during development and in adulthood. Cardiotrophin-like cytokine (CLC)–cytokine-like factor 1 (CLF) composite cytokine is a second ligand for the CNTF α-component receptor (CNTFRα). This composite cytokine is built on the structural model of IL-12, with a complex formed by a four-helix bundle type I cytokine, CLC (also referred to as <italic>CLCF1</italic>), bound to a soluble receptor subunit, CLF (also known as <italic>CRLF1</italic>). We have reported mutations in the chaperone soluble receptor CLF, causing cold-induced sweating syndrome (CISS). In this study, we studied the <italic>CLC</italic>-mutated alleles in a patient suffering from a similar disease. This patient was compound heterozygous for two different <italic>CLC</italic> mutations. The first allele was inactivated by a stop codon at position 107 (Y107X). In the second allele, a R197L mutation in the CLC-predicted binding site to the CNTFRα was detected. Functional analysis of the mutated protein revealed an incapacity for R197L CLC to bind to CNTFRα and activate the subsequent signaling events. Structural and docking interaction studies showed that the R197L substitution destabilized the contact site between CLC and CNTFRα.</p></div></front></TEI><affiliations><list><country><li>Australie</li><li>Canada</li><li>France</li><li>Norvège</li></country><region><li>Nouvelle-Galles du Sud</li><li>Pays de la Loire</li></region><settlement><li>Angers</li><li>Sydney</li></settlement><orgName><li>Université de Sydney</li></orgName></list><tree><country name="France"><region name="Pays de la Loire"><name sortKey="Rousseau, Francois" sort="Rousseau, Francois" uniqKey="Rousseau F" first="François" last="Rousseau">François Rousseau</name></region><name sortKey="Chevalier, Sylvie" sort="Chevalier, Sylvie" uniqKey="Chevalier S" first="Sylvie" last="Chevalier">Sylvie Chevalier</name><name sortKey="Froger, Josy" sort="Froger, Josy" uniqKey="Froger J" first="Josy" last="Froger">Josy Froger</name><name sortKey="Gascan, Hugues" sort="Gascan, Hugues" uniqKey="Gascan H" first="Hugues" last="Gascan">Hugues Gascan</name><name sortKey="Guillet, Catherine" sort="Guillet, Catherine" uniqKey="Guillet C" first="Catherine" last="Guillet">Catherine Guillet</name></country><country name="Canada"><noRegion><name sortKey="Gauchat, Jean Francois" sort="Gauchat, Jean Francois" uniqKey="Gauchat J" first="Jean-François" last="Gauchat">Jean-François Gauchat</name></noRegion><name sortKey="Cognet, Isabelle" sort="Cognet, Isabelle" uniqKey="Cognet I" first="Isabelle" last="Cognet">Isabelle Cognet</name><name sortKey="Guilhot, Florence" sort="Guilhot, Florence" uniqKey="Guilhot F" first="Florence" last="Guilhot">Florence Guilhot</name><name sortKey="Hahn, Angelika F" sort="Hahn, Angelika F" uniqKey="Hahn A" first="Angelika F." last="Hahn">Angelika F. Hahn</name></country><country name="Australie"><region name="Nouvelle-Galles du Sud"><name sortKey="Mcleod, James G" sort="Mcleod, James G" uniqKey="Mcleod J" first="James G." last="Mcleod">James G. Mcleod</name></region></country><country name="Norvège"><noRegion><name sortKey="Knappskog, Per M" sort="Knappskog, Per M" uniqKey="Knappskog P" first="Per M." last="Knappskog">Per M. Knappskog</name></noRegion><name sortKey="Boman, Helge" sort="Boman, Helge" uniqKey="Boman H" first="Helge" last="Boman">Helge Boman</name><name sortKey="Boman, Helge" sort="Boman, Helge" uniqKey="Boman H" first="Helge" last="Boman">Helge Boman</name><name sortKey="Knappskog, Per M" sort="Knappskog, Per M" uniqKey="Knappskog P" first="Per M." last="Knappskog">Per M. Knappskog</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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