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C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle

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  • Sandrine Floriot

    (Institut National de la Recherche Agronomique (INRA), Unité Mixte de Recherche 1313—Génétique Animale et Biologie Intégrative (UMR1313—GABI))

  • Christine Vesque

    (Sorbonne Universités, UPMC University Paris 06, Institut de Biologie Paris Seine (IBPS)—Biologie du Développement, UMR 7622
    CNRS, UMR 7622, IBPS—Biologie du Développement
    INSERM, ERL 1156)

  • Sabrina Rodriguez

    (Institut National de la Recherche Agronomique (INRA), Unité Mixte de Recherche 1313—Génétique Animale et Biologie Intégrative (UMR1313—GABI)
    Plate-forme SIGENAE/Génétique Cellulaire, INRA)

  • Florence Bourgain-Guglielmetti

    (Sorbonne Universités, UPMC University Paris 06, Institut de Biologie Paris Seine (IBPS)—Biologie du Développement, UMR 7622
    CNRS, UMR 7622, IBPS—Biologie du Développement
    INSERM, UMR_S 938, Saint-Antoine Research Center)

  • Anthi Karaiskou

    (Sorbonne Universités, UPMC University Paris 06, Institut de Biologie Paris Seine (IBPS)—Biologie du Développement, UMR 7622
    CNRS, UMR 7622, IBPS—Biologie du Développement)

  • Mathieu Gautier

    (Institut National de la Recherche Agronomique (INRA), Unité Mixte de Recherche 1313—Génétique Animale et Biologie Intégrative (UMR1313—GABI)
    Centre de Biologie pour la gestion des populations (CBGP)/INRA, UMR1031)

  • Amandine Duchesne

    (Institut National de la Recherche Agronomique (INRA), Unité Mixte de Recherche 1313—Génétique Animale et Biologie Intégrative (UMR1313—GABI))

  • Sarah Barbey

    (INRA, Unité Expérimentale (UE0326))

  • Sébastien Fritz

    (Institut National de la Recherche Agronomique (INRA), Unité Mixte de Recherche 1313—Génétique Animale et Biologie Intégrative (UMR1313—GABI)
    Allice)

  • Alexandre Vasilescu

    (Labogena)

  • Maud Bertaud

    (Institut National de la Recherche Agronomique (INRA), Unité Mixte de Recherche 1313—Génétique Animale et Biologie Intégrative (UMR1313—GABI))

  • Mohammed Moudjou

    (INRA, Unité de Virologie et Immunologie Moléculaires (UR0892))

  • Sophie Halliez

    (INRA, Unité de Virologie et Immunologie Moléculaires (UR0892))

  • Valérie Cormier-Daire

    (Institut National de la Santé et de la Recherche Médicale (INSERM), Unité U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades)

  • Joyce E.L. Hokayem

    (Institut National de la Santé et de la Recherche Médicale (INSERM), Unité U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Hôpital Necker Enfants Malades)

  • Erich A. Nigg

    (University of Basel)

  • Luc Manciaux

    (CEIA du Doubs et du Territoire de Belfort
    Present address: Bretagne Conseil Elevage Ouest, CS 80 520, F-22195 PLERIN, France)

  • Raphaël Guatteo

    (LUNAM Université, Oniris, UMR BioEpAR, CS 40706
    INRA, UMR1300 BioEpAR, CS 40706)

  • Nora Cesbron

    (LUNAM Université, Oniris, UMR BioEpAR, CS 40706
    INRA, UMR1300 BioEpAR, CS 40706)

  • Geraldine Toutirais

    (Sorbonne Universités, UPMC University Paris 06, Paris Seine Biology Institute, Electron Microscopy Facility)

  • André Eggen

    (Institut National de la Recherche Agronomique (INRA), Unité Mixte de Recherche 1313—Génétique Animale et Biologie Intégrative (UMR1313—GABI))

  • Sylvie Schneider-Maunoury

    (Sorbonne Universités, UPMC University Paris 06, Institut de Biologie Paris Seine (IBPS)—Biologie du Développement, UMR 7622
    CNRS, UMR 7622, IBPS—Biologie du Développement
    INSERM, ERL 1156)

  • Didier Boichard

    (Institut National de la Recherche Agronomique (INRA), Unité Mixte de Recherche 1313—Génétique Animale et Biologie Intégrative (UMR1313—GABI))

  • Joelle Sobczak-Thépot

    (Sorbonne Universités, UPMC University Paris 06, Institut de Biologie Paris Seine (IBPS)—Biologie du Développement, UMR 7622
    CNRS, UMR 7622, IBPS—Biologie du Développement
    INSERM, UMR_S 938, Saint-Antoine Research Center)

  • Laurent Schibler

    (Institut National de la Recherche Agronomique (INRA), Unité Mixte de Recherche 1313—Génétique Animale et Biologie Intégrative (UMR1313—GABI)
    Allice)

Abstract

Caprine-like Generalized Hypoplasia Syndrome (SHGC) is an autosomal-recessive disorder in Montbéliarde cattle. Affected animals present a wide range of clinical features that include the following: delayed development with low birth weight, hind limb muscular hypoplasia, caprine-like thin head and partial coat depigmentation. Here we show that SHGC is caused by a truncating mutation in the CEP250 gene that encodes the centrosomal protein C-Nap1. This mutation results in centrosome splitting, which neither affects centriole ultrastructure and duplication in dividing cells nor centriole function in cilium assembly and mitotic spindle organization. Loss of C-Nap1-mediated centriole cohesion leads to an altered cell migration phenotype. This discovery extends the range of loci that constitute the spectrum of autosomal primary recessive microcephaly (MCPH) and Seckel-like syndromes.

Suggested Citation

  • Sandrine Floriot & Christine Vesque & Sabrina Rodriguez & Florence Bourgain-Guglielmetti & Anthi Karaiskou & Mathieu Gautier & Amandine Duchesne & Sarah Barbey & Sébastien Fritz & Alexandre Vasilescu , 2015. "C-Nap1 mutation affects centriole cohesion and is associated with a Seckel-like syndrome in cattle," Nature Communications, Nature, vol. 6(1), pages 1-9, November.
    • Handle: RePEc:nat:natcom:v:6:y:2015:i:1:d:10.1038_ncomms7894
    DOI: 10.1038/ncomms7894
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