Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation

Pierre Billuart, Thierry Bienvenu, Nathalie Ronce, Vincent des Portes, Marie Claude Vinet, Ramzi Zemni, Hugues Roest Crollius, Alain Carrié, Fabien Fauchereau, Michele Cherry, Sylvain Briault, Ben Hamel, Jean-Pierre Fryns, Cherif Beldjord, Axel Kahn, Claude Moraine and Jamel Chelly ()
Additional contact information
Pierre Billuart: INSERM U129-ICGM, Faculté de Médecine Cochin, 24 rue du Faubourg Saint-Jacques
Thierry Bienvenu: INSERM U129-ICGM, Faculté de Médecine Cochin, 24 rue du Faubourg Saint-Jacques
Nathalie Ronce: Centre Hospitalier Universitaire de Tours, Service de Génétique, Hôpital Bretonneau, 2 boulevard Tonnelle
Vincent des Portes: INSERM U129-ICGM, Faculté de Médecine Cochin, 24 rue du Faubourg Saint-Jacques
Marie Claude Vinet: INSERM U129-ICGM, Faculté de Médecine Cochin, 24 rue du Faubourg Saint-Jacques
Ramzi Zemni: INSERM U129-ICGM, Faculté de Médecine Cochin, 24 rue du Faubourg Saint-Jacques
Hugues Roest Crollius: Max-Plank-Institute for Molecular Genetics
Alain Carrié: INSERM U129-ICGM, Faculté de Médecine Cochin, 24 rue du Faubourg Saint-Jacques
Fabien Fauchereau: INSERM U129-ICGM, Faculté de Médecine Cochin, 24 rue du Faubourg Saint-Jacques
Michele Cherry: Centre Hospitalier Universitaire de Nancy, Laboratoire de Génétique
Sylvain Briault: Centre Hospitalier Universitaire de Tours, Service de Génétique, Hôpital Bretonneau, 2 boulevard Tonnelle
Ben Hamel: University Hospital Nijmegen
Jean-Pierre Fryns: Center for Human Genetics, Clinical Genetics Univ, UZ Gasthuisberg
Cherif Beldjord: INSERM U129-ICGM, Faculté de Médecine Cochin, 24 rue du Faubourg Saint-Jacques
Axel Kahn: INSERM U129-ICGM, Faculté de Médecine Cochin, 24 rue du Faubourg Saint-Jacques
Claude Moraine: Centre Hospitalier Universitaire de Tours, Service de Génétique, Hôpital Bretonneau, 2 boulevard Tonnelle
Jamel Chelly: INSERM U129-ICGM, Faculté de Médecine Cochin, 24 rue du Faubourg Saint-Jacques

Nature, 1998, vol. 392, issue 6679, 923-926

Abstract: Abstract Primary or nonspecific X-linked mental retardation (MRX) is a heterogeneous condition in which affected patients do not have any distinctive clinical or biochemical features in common apart from cognitive impairment1. Although it is present in approximately 0.15–0.3% of males2, most of the genetic defects associated with MRX, which may involve more than ten different genes, remain unknown3. Here we report the characterization of a new gene on the long arm of the X-chromosome (position Xq12) and the identification in unrelated individuals of different mutations that are predicted to cause a loss of function. This gene is highly expressed in fetal brain and encodes a protein of relative molecular mass 91K, named oligophrenin-1, which contains a domain typical of a Rho-GTPase–activating protein (rhoGAP)4,5. By enhancing their GTPase activity, GAP proteins inactivate small Rho and Ras proteins, so inactivation of rhoGAP proteins might cause constitutive activation of their GTPase targets. Such activation is known to affect cell migration and outgrowth of axons and dendrites in vivo6,7,8,. Our results demonstrate an association between cognitive impairment and a defect in a signalling pathway that depends on a Ras-like GTPase.

Date: 1998
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DOI: 10.1038/31940

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