This item still needs to be validated !
Title: A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation
Authors: Carrié, A ×
Jun, L
Bienvenu, T
Vinet, M C
McDonell, N
Couvert, P
Zemni, R
Cardona, A
Van Buggenhout, Griet
Frints, Suzanna
Hamel, B
Moraine, C
Ropers, H H
Strom, T
Howell, G R
Whittaker, A
Ross, M T
Kahn, A
Fryns, Jean-Pierre
Beldjord, C
Marynen, Peter
Chelly, J #
Issue Date: Sep-1999
Series Title: Nature genetics. vol:23 issue:1 pages:25-31
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.
ISSN: 1061-4036
Publication status: published
KU Leuven publication type: IT
Appears in Collections:Clinical Genetics Section (-)
Molecular Genetics Section (-)
Department of Human Genetics - miscellaneous
Clinical Genetics
× corresponding author
# (joint) last author

Files in This Item:

There are no files associated with this item.

Request a copy


All items in Lirias are protected by copyright, with all rights reserved.

© Web of science