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An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus

Author

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  • Matthieu Giraud

    (Inserm, U580, 75015 Paris, France; Université Paris-Descartes, 75015 Paris, France
    Université Paris-Descartes, 75015 Paris, France
    Neuroscience Group, Weatherhall Institute of Molecular Medicine, Oxford University, Headington, Oxford OX3 9DS, UK)

  • Richard Taubert

    (Tumor Immunology Program, German Cancer Research Centre, INF 280, D-69120 Heidelberg, Germany)

  • Claire Vandiedonck

    (Inserm, U580, 75015 Paris, France; Université Paris-Descartes, 75015 Paris, France
    Université Paris-Descartes, 75015 Paris, France)

  • Xiayi Ke

    (Centre for Integrated Genomic Medical Research (CIGMR) and Arthritis Research Campaign (ARC) Epidemiology Unit, University of Manchester, Manchester M13 9PT, UK)

  • Matthieu Lévi-Strauss

    (Inserm, U580, 75015 Paris, France; Université Paris-Descartes, 75015 Paris, France
    Université Paris-Descartes, 75015 Paris, France)

  • Franco Pagani

    (International Centre for Genetic Engineering and Biotechnology Padriciano 99, 34012 Trieste, Italy)

  • Francisco E. Baralle

    (International Centre for Genetic Engineering and Biotechnology Padriciano 99, 34012 Trieste, Italy)

  • Bruno Eymard

    (Institut de Myologie, Hôpital de la Salpêtrière, 75013 Paris, France)

  • Christine Tranchant

    (Service de Neurologie, Hôpital Civil, CHRU, 67091 Strasbourg, France)

  • Philippe Gajdos

    (Service de Réanimation, Hôpital Raymond Poincaré, 92380 Garches, France)

  • Angela Vincent

    (Neuroscience Group, Weatherhall Institute of Molecular Medicine, Oxford University, Headington, Oxford OX3 9DS, UK)

  • Nick Willcox

    (Neuroscience Group, Weatherhall Institute of Molecular Medicine, Oxford University, Headington, Oxford OX3 9DS, UK)

  • David Beeson

    (Neuroscience Group, Weatherhall Institute of Molecular Medicine, Oxford University, Headington, Oxford OX3 9DS, UK)

  • Bruno Kyewski

    (Tumor Immunology Program, German Cancer Research Centre, INF 280, D-69120 Heidelberg, Germany)

  • Henri-Jean Garchon

    (Inserm, U580, 75015 Paris, France; Université Paris-Descartes, 75015 Paris, France
    Université Paris-Descartes, 75015 Paris, France)

Abstract

Trigger for autoimmunity The human thymus is tasked to teach T-cells which antigens are foreign and which are 'self', a process that appears to go wrong in autoimmune disorders. A study of the variation in the promoter of one gene expressed in the thymus shows that a single nucleotide change can disrupt gene regulation, and increase susceptibility to autoimmune disease. The gene, CHRNA1, encodes a subunit of the muscle acetylcholine receptor, a target for autoantibodies in the neuromuscular disease autoimmune myasthenia gravis.

Suggested Citation

  • Matthieu Giraud & Richard Taubert & Claire Vandiedonck & Xiayi Ke & Matthieu Lévi-Strauss & Franco Pagani & Francisco E. Baralle & Bruno Eymard & Christine Tranchant & Philippe Gajdos & Angela Vincent, 2007. "An IRF8-binding promoter variant and AIRE control CHRNA1 promiscuous expression in thymus," Nature, Nature, vol. 448(7156), pages 934-937, August.
    • Handle: RePEc:nat:nature:v:448:y:2007:i:7156:d:10.1038_nature06066
    DOI: 10.1038/nature06066
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    Cited by:

    1. Jason A. Carter & Léonie Strömich & Matthew Peacey & Sarah R. Chapin & Lars Velten & Lars M. Steinmetz & Benedikt Brors & Sheena Pinto & Hannah V. Meyer, 2022. "Transcriptomic diversity in human medullary thymic epithelial cells," Nature Communications, Nature, vol. 13(1), pages 1-15, December.

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