Nature Genetics
23, 25 - 31 (1999)
doi:10.1038/12623
A new member of the IL-1 receptor family highly expressed in hippocampus
and involved in X-linked mental retardationAlain Carrié1, Lin Jun2, Thierry Bienvenu1, Marie-Claude Vinet1, Nathalie McDonell1, Philippe Couvert1, Ramzi Zemni1, Ana Cardona3, Griet Van Buggenhout4, 5, Suzanna Frints2, 4, Ben Hamel5, Claude Moraine6, Hans H. Ropers7, Tim Strom8, Gareth R. Howell9, Adam Whittaker9, Mark T. Ross9, Axel Kahn1, Jean-Pierre Fryns4, Cherif Beldjord1, Peter Marynen2
& Jamel Chelly11
INSERM Unité 129−ICGM, CHU Cochin, 24 Rue du Faubourg Saint Jacques, 75014 Paris, France. 2
The Flanders Interuniversity Institute for Biotechnology, UZ Gasthuisberg, Herestraat 49, B-3000 Leuven, Belgium. 3
Laboratoire de Technologies Cellulaires, Institut Pasteur, 25 rue du Dr Roux, 75724 Paris cedex 15, France. 4
Center for Human Genetics, Clinical Genetics University, UZ Gasthuisberg, Herestraat 49, B-3000 Leuven, Belgium. 5
University Hospital Nijmegen, 417 Department of Human Genetics, Geert Grooteplein 10, 6500 HB Nijmegen, The Netherlands. 6
Centre Hospitalier de Tours, Service de Génétique, Hopital Bretonneau, 2 Boulevard Tonnelle, 37044 Tours Cedex, France. 7
Max-Plank-Institute for Molecular Genetics, Ihnestrasse 73, Berlin-Dahlem, Germany. 8
Abteilung Medizinische Genetik, Goethestr. 29, 80336 München, Germany. 9
The Sanger Centre, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.
Correspondence should be addressed to Jamel Chelly chelly@infobiogen.frWe demonstrate here the importance of interleukin signalling pathways in
cognitive function and the normal physiology of the CNS. Thorough investigation
of an MRX critical region in Xp22.1−21.3 enabled us to identify a new
gene expressed in brain that is responsible for a non-specific form of X-linked
mental retardation. This gene encodes a 696 amino acid protein that has homology
to IL-1 receptor accessory proteins. Non-overlapping deletions and a nonsense
mutation in this gene were identified in patients with cognitive impairment
only. Its high level of expression in post-natal brain structures involved
in the hippocampal memory system suggests a specialized role for this new
gene in the physiological processes underlying memory and learning abilities.
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