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Insensitivity to anti–Müllerian hormone due to a mutation in the human anti–Müllerian hormone receptor

Nature Genetics volume 11, pages 382–388 (1995)Cite this article

Abstract

Anti–Müllerian hormone (AMH) and its receptor are involved in the regression of Müllerian ducts in male fetuses. We have now cloned and mapped the human AMH receptor gene and provide genetic proof that it is required for AMH signalling, by identifying a mutation in the AMH receptor in a patient with persistent Müllerian duct syndrome. The mutation destroys the invariant dinucleotide at the 5′ end of the second intron, generating two abnormal mRNAs, one missing the second exon, required for ligand binding, and the other incorporating the first 12 bases of the second intron. The similar phenotypes observed in AMH–deficient and AMH receptor–deficient individuals indicate that the AMH signalling machinery is remarkably simple, consisting of one ligand and one type II receptor.

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Authors and Affiliations

  1. Unité de Recherches sur l'Endocrinologie du Développement INSERM, Ecole Normale Supérieure, Département de Biologie, 1 rue Maurice-Arnoux, 92120, Montrouge, France

    Sandrine Imbeaud, Emmanuelle Faure, Isabelle Lamarre, Nathalie di Clemente, Danièle Carré-Eusèbe, Corinne Belville, Nathalie Josso & Jean-Yves Picard

  2. Unité de Recherches Génétique Médicale et Développement INSERM, 27 bd Jean-Moulin, 13385, Marseille Cedex, 5, France

    Marie-Geneviève Mattéi

  3. Biogen Inc, 14 Cambridge Center, Cambridge, Massachusets, 02142, USA

    Richard Tizard, Lars Tragethon, Christopher Tonkin, Janice Nelson, Michele McAuliffe & Richard L. Cate

  4. Service d'Immunologie Clinique, Institut Gustave-Roussy, 39 rue Camille-Desmoulins, Villejuif Cedex, 94805, France

    Jean-Michel Bidart

  5. Service de Chirurgie Pédiatrique, Hôpital de Bicêtre, 80 avenue du Général Leclerc, 94276, Le Kremlin-Bicêtre Cedex, France

    Abdul Lababidi

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  1. Sandrine Imbeaud
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Imbeaud, S., Faure, E., Lamarre, I. et al. Insensitivity to anti–Müllerian hormone due to a mutation in the human anti–Müllerian hormone receptor. Nat Genet 11, 382–388 (1995). https://doi.org/10.1038/ng1295-382

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