A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation.
paper
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- Authors
- CarriΓ©, A; Jun, L; Bienvenu, T; Vinet, M C; McDonell, N; Couvert, P; Zemni, R; Cardona, A; Van Buggenhout, G; Frints, S; Hamel, B; Moraine, C; Ropers, H H; Strom, T; Howell, G R; Whittaker, A; Ross, M T; Kahn, A; Fryns, J P; Beldjord, C; Marynen, P; Chelly, J
- Year
- 1999
- Journal
- Nature genetics
- PMID
- 10471494
- DOI
- 10.1038/12623
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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