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A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma

Author

Listed:
  • Corine Bertolotto

    (INSERM, U895 (équipe 1), Equipe labélisée Ligue Contre le Cancer, C3M
    Université of Nice Sophia-Antipolis, UFR Médecine
    Centre Hospitalier Universitaire de Nice, Service de Dermatologie)

  • Fabienne Lesueur

    (Service de Génétique, Institut de Cancérologie Gustave Roussy
    Present addresses: Genetic Cancer Susceptibility group, International Agency for Research on Cancer, 69372 Lyon, France (F.L.); Genetic Department, Institut Paoli Calmettes, 13273 Marseille, France (A.R.).)

  • Sandy Giuliano

    (INSERM, U895 (équipe 1), Equipe labélisée Ligue Contre le Cancer, C3M
    Université of Nice Sophia-Antipolis, UFR Médecine)

  • Thomas Strub

    (Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS, INSERM, Université de Strasbourg)

  • Mahaut de Lichy

    (Service de Génétique, Institut de Cancérologie Gustave Roussy)

  • Karine Bille

    (INSERM, U895 (équipe 1), Equipe labélisée Ligue Contre le Cancer, C3M)

  • Philippe Dessen

    (INSERM, UMR985, Institut de Cancérologie Gustave Roussy, 94805 Villejuif, France and Université Paris-Sud 11)

  • Benoit d’Hayer

    (Service de Génétique, Institut de Cancérologie Gustave Roussy)

  • Hamida Mohamdi

    (INSERM, U946, Genetic Variation and Human Diseases Unit
    Université Paris Diderot, Sorbonne Paris Cité, Institut Universitaire d’Hématologie
    Fondation Jean Dausset-Centre d’Etude du Polymorphisme Humain (CEPH))

  • Audrey Remenieras

    (Service de Génétique, Institut de Cancérologie Gustave Roussy
    Present addresses: Genetic Cancer Susceptibility group, International Agency for Research on Cancer, 69372 Lyon, France (F.L.); Genetic Department, Institut Paoli Calmettes, 13273 Marseille, France (A.R.).)

  • Eve Maubec

    (INSERM, U946, Genetic Variation and Human Diseases Unit
    AP-HP, Hôpital Bichat, Service de Dermatologie, Faculté Paris Diderot)

  • Arnaud de la Fouchardière

    (Centre Léon Bérard)

  • Vincent Molinié

    (Hôpital Saint-Joseph)

  • Pierre Vabres

    (Centre Hospitalier Universitaire)

  • Stéphane Dalle

    (Lyon 1 University and Centre Hospitalier Lyon Sud)

  • Nicolas Poulalhon

    (Lyon 1 University and Centre Hospitalier Lyon Sud)

  • Tanguy Martin-Denavit

    (Lyon 1 University and Centre Hospitalier Lyon Sud)

  • Luc Thomas

    (Lyon 1 University and Centre Hospitalier Lyon Sud)

  • Pascale Andry-Benzaquen

    (AP-HP, Hôpital Cochin -Tarnier, Service de Dermatologie and Université Paris Descartes)

  • Nicolas Dupin

    (AP-HP, Hôpital Cochin -Tarnier, Service de Dermatologie and Université Paris Descartes)

  • Françoise Boitier

    (AP-HP, Hôpital Cochin -Tarnier, Service de Dermatologie and Université Paris Descartes)

  • Annick Rossi

    (Unité de Génétique Clinique, Hôpital Charles Nicolle, CHU Rouen)

  • Jean-Luc Perrot

    (CHU Hôpital Nord)

  • Bruno Labeille

    (CHU Hôpital Nord)

  • Caroline Robert

    (Institut de Cancérologie Gustave Roussy)

  • Bernard Escudier

    (Institut de Cancérologie Gustave Roussy)

  • Olivier Caron

    (Institut de Cancérologie Gustave Roussy)

  • Laurence Brugières

    (Institut de Cancérologie Gustave Roussy)

  • Simon Saule

    (Institut Curie, CNRS UMR33 and INSERM U1021, Université Paris-Sud 11)

  • Betty Gardie

    (Génétique Oncologique EPHE-INSERM U753, Faculté de Médecine, Université Paris-Sud 11 and Institut de Cancérologie Gustave Roussy)

  • Sophie Gad

    (Génétique Oncologique EPHE-INSERM U753, Faculté de Médecine, Université Paris-Sud 11 and Institut de Cancérologie Gustave Roussy)

  • Stéphane Richard

    (Génétique Oncologique EPHE-INSERM U753, Faculté de Médecine, Université Paris-Sud 11 and Institut de Cancérologie Gustave Roussy
    Centre Expert National Cancers Rares PREDIR, INCa/AP-HP, Service d’Urologie, Hôpital de Bicêtre)

  • Jérôme Couturier

    (Service de Génétique, Institut Curie)

  • Bin Tean Teh

    (Laboratory of Cancer Genetics, Van Andel Research Institute
    NCCS-VARI Translational Research Laboratory, National Cancer Center Singapore)

  • Paola Ghiorzo

    (University of Genoa)

  • Lorenza Pastorino

    (University of Genoa)

  • Susana Puig

    (Melanoma Unit, Hospital Clinic, IDIBAPS, and CIBER de Enfermedades Raras, Instituto de Salud Carlos III)

  • Celia Badenas

    (Melanoma Unit, Hospital Clinic, IDIBAPS, and CIBER de Enfermedades Raras, Instituto de Salud Carlos III)

  • Hakan Olsson

    (Lund University and Hospital)

  • Christian Ingvar

    (Lund University and Hospital)

  • Etienne Rouleau

    (Service d’Oncogénétique, Hôpital René Huguenin- Institut Curie)

  • Rosette Lidereau

    (Service d’Oncogénétique, Hôpital René Huguenin- Institut Curie)

  • Philippe Bahadoran

    (Centre Hospitalier Universitaire de Nice, Service de Dermatologie)

  • Philippe Vielh

    (Translational Research Laboratory and Biobank, Institut de Cancérologie Gustave Roussy)

  • Eve Corda

    (INSERM, U946, Genetic Variation and Human Diseases Unit
    Fondation Jean Dausset-Centre d’Etude du Polymorphisme Humain (CEPH))

  • Hélène Blanché

    (Fondation Jean Dausset-Centre d’Etude du Polymorphisme Humain (CEPH))

  • Diana Zelenika

    (Commissariat à l’Energie Atomique, Centre National de Génotypage)

  • Pilar Galan

    (INSERM, UMR557, INRA U1125, CNAM, Paris 13, CRNH Idf)

  • Valérie Chaudru

    (INSERM, U946, Genetic Variation and Human Diseases Unit
    Fondation Jean Dausset-Centre d’Etude du Polymorphisme Humain (CEPH)
    Université d’Evry Val d’Essonne)

  • Gilbert M. Lenoir

    (Service de Génétique, Institut de Cancérologie Gustave Roussy
    Université Paris-Sud 11, Faculté de Médecine)

  • Mark Lathrop

    (Fondation Jean Dausset-Centre d’Etude du Polymorphisme Humain (CEPH)
    Commissariat à l’Energie Atomique, Centre National de Génotypage)

  • Irwin Davidson

    (Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS, INSERM, Université de Strasbourg)

  • Marie-Françoise Avril

    (AP-HP, Hôpital Cochin -Tarnier, Service de Dermatologie and Université Paris Descartes)

  • Florence Demenais

    (INSERM, U946, Genetic Variation and Human Diseases Unit
    Université Paris Diderot, Sorbonne Paris Cité, Institut Universitaire d’Hématologie
    Fondation Jean Dausset-Centre d’Etude du Polymorphisme Humain (CEPH))

  • Robert Ballotti

    (INSERM, U895 (équipe 1), Equipe labélisée Ligue Contre le Cancer, C3M
    Université of Nice Sophia-Antipolis, UFR Médecine
    Centre Hospitalier Universitaire de Nice, Service de Dermatologie)

  • Brigitte Bressac-de Paillerets

    (Service de Génétique, Institut de Cancérologie Gustave Roussy
    INSERM, U946, Genetic Variation and Human Diseases Unit)

Abstract

MITF, a melanoma predisposition gene Two papers in this issue of Nature demonstrate that missense substitutions in the gene encoding for microphthalmia-associated transcription factor (MITF) are associated with susceptibility to melanoma and renal cell carcinoma. Functional analysis shows that the variant has impaired sumoylation that leads to differential regulation of several MITF targets, and promotes tumour cell clonogenicity, migration and invasion.

Suggested Citation

  • Corine Bertolotto & Fabienne Lesueur & Sandy Giuliano & Thomas Strub & Mahaut de Lichy & Karine Bille & Philippe Dessen & Benoit d’Hayer & Hamida Mohamdi & Audrey Remenieras & Eve Maubec & Arnaud de l, 2011. "A SUMOylation-defective MITF germline mutation predisposes to melanoma and renal carcinoma," Nature, Nature, vol. 480(7375), pages 94-98, December.
    • Handle: RePEc:nat:nature:v:480:y:2011:i:7375:d:10.1038_nature10539
    DOI: 10.1038/nature10539
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    Cited by:

    1. Fang Liang & Yu Zhang & Lin Li & Yexin Yang & Ji-Feng Fei & Yanmei Liu & Wei Qin, 2022. "SpG and SpRY variants expand the CRISPR toolbox for genome editing in zebrafish," Nature Communications, Nature, vol. 13(1), pages 1-10, December.

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