Literature DB >> 1922361

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

B Franco1, S Guioli, A Pragliola, B Incerti, B Bardoni, R Tonlorenzi, R Carrozzo, E Maestrini, M Pieretti, P Taillon-Miller, C J Brown, H F Willard, C Lawrence, M Graziella Persico, G Camerino, A Ballabio.   

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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Year:  1991        PMID: 1922361     DOI: 10.1038/353529a0

Source DB:  PubMed          Journal:  Nature        ISSN: 0028-0836            Impact factor:   49.962


  166 in total

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