A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

Nat Genet. 1999 Sep;23(1):25-31. doi: 10.1038/12623.

A Carrié ¹, L Jun, T Bienvenu, M C Vinet, N McDonell, P Couvert, R Zemni, A Cardona, G Van Buggenhout, S Frints, B Hamel, C Moraine, H H Ropers, T Strom, G R Howell, A Whittaker, M T Ross, A Kahn, J P Fryns, C Beldjord, P Marynen, J Chelly

Affiliations

Affiliation

1 INSERM Unité 129-ICGM, CHU Cochin, 24 Rue du Faubourg Saint Jacques, 75014 Paris, France.

PMID: 10471494 DOI: 10.1038/12623

Abstract

We 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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