title: A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation.
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.
authors.affiliation: INSERM Unité 129-ICGM, CHU Cochin, 24 Rue du Faubourg Saint Jacques, 75014 Paris, France.
authors.forename: A
authors.initials: A
authors.lastname: Carrié
authors.forename: L
authors.initials: L
authors.lastname: Jun
authors.forename: T
authors.initials: T
authors.lastname: Bienvenu
authors.forename: M C
authors.initials: MC
authors.lastname: Vinet
authors.forename: N
authors.initials: N
authors.lastname: McDonell
authors.forename: P
authors.initials: P
authors.lastname: Couvert
authors.forename: R
authors.initials: R
authors.lastname: Zemni
authors.forename: A
authors.initials: A
authors.lastname: Cardona
authors.forename: G
authors.initials: G
authors.lastname: Van Buggenhout
authors.forename: S
authors.initials: S
authors.lastname: Frints
authors.forename: B
authors.initials: B
authors.lastname: Hamel
authors.forename: C
authors.initials: C
authors.lastname: Moraine
authors.forename: H H
authors.initials: HH
authors.lastname: Ropers
authors.forename: T
authors.initials: T
authors.lastname: Strom
authors.forename: G R
authors.initials: GR
authors.lastname: Howell
authors.forename: A
authors.initials: A
authors.lastname: Whittaker
authors.forename: M T
authors.initials: MT
authors.lastname: Ross
authors.forename: A
authors.initials: A
authors.lastname: Kahn
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: C
authors.initials: C
authors.lastname: Beldjord
authors.forename: P
authors.initials: P
authors.lastname: Marynen
authors.forename: J
authors.initials: J
authors.lastname: Chelly
mesh_terms: D000595:Amino Acid Sequence; D000818:Animals; D001483:Base Sequence; D005260:Female; D020558:GTP Phosphohydrolases / Q000378:metabolism; D017353:Gene Deletion; D008040:Genetic Linkage; D006624:Hippocampus / Q000378:metabolism*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D008297:Male; D051379:Mice; D008969:Molecular Sequence Data; D009830:Olfactory Bulb / Q000378:metabolism; D010375:Pedigree; D017472:Receptors, Interleukin-1 / Q000235:genetics* / Q000378:metabolism*; D015398:Signal Transduction; D013997:Time Factors; D014018:Tissue Distribution; D014960:X Chromosome
chemical_list: D017472:Receptors, Interleukin-1; D020558:GTP Phosphohydrolases