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A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

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Abstract

Kallmann's syndrome (clinically characterized by hypogonadotropic hypogonadism and inability to smell) is caused by a defect in the migration of olfactory neurons, and neurons producing hypothalamic gonadotropin-releasing hormone. A gene has now been isolated from the critical region on Xp22.3 to which the syndrome locus has been assigned: this gene escapes X inactivation, has a homologue on the Y chromosome, and shows an unusual pattern of conservation across species. The predicted protein has significant similarities with proteins involved in neural cell adhesion and axonal pathfinding, as well as with protein kinases and phosphatases, which suggests that this gene could have a specific role in neuronal migration.

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Authors and Affiliations

  1. Institute for Molecular Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, 77030, USA

    Brunella Franco, Antonella Pragliola, Barbara Incerti, Rossana Tonlorenzi, Romeo Carrozzo, Elena Maestrini, Maura Pieretti & Andrea Ballabio

  2. Department of Cell Biology, Baylor College of Medicine, One Baylor Plaza, Houston, Texas, 77030, USA

    Charles Lawrence

  3. Biologia Generale e Genetica Medica, Via Forlanini 14, 27100, Pavia, Italy

    Silvana Guioli, Barbara Bardoni & Giovanna Camerino

  4. International Institute of Genetics and Biophysics, Via Marconi 10, 80125, Naples, Italy

    Antonella Pragliola & M. Graziella Persico

  5. Center for Genetics in Medicine, Washington University School of Medicine, St Louis, Missouri, 63110, USA

    Patricia Taillon-Miller

  6. Department of Genetics, Stanford University School of Medicine, Stanford, California, 94305, USA

    Carolyn J. Brown & Huntington F. Willard

  7. Institute G. Gaslini, Genoa, Italy

    Brunella Franco, Rossana Tonlorenzi, Romeo Carrozzo & Elena Maestrini

  8. Department of Pediatrics, University of Naples, Naples, Italy

    Brunella Franco, Rossana Tonlorenzi, Romeo Carrozzo & Elena Maestrini

  9. Istituto di Biochimica Genetica ed Evoluzionistica, Pavia, Italy

    Brunella Franco, Rossana Tonlorenzi, Romeo Carrozzo & Elena Maestrini

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Franco, B., Guioli, S., Pragliola, A. et al. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature 353, 529–536 (1991). https://doi.org/10.1038/353529a0

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