PMID- 10471494
OWN - NLM
STAT- MEDLINE
DCOM- 19990923
LR  - 20111117
IS  - 1061-4036 (Print)
IS  - 1061-4036 (Linking)
VI  - 23
IP  - 1
DP  - 1999 Sep
TI  - A new member of the IL-1 receptor family highly expressed in hippocampus and
      involved in X-linked mental retardation.
PG  - 25-31
AB  - 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.
FAU - Carrie, A
AU  - Carrie A
AD  - INSERM Unite 129-ICGM, CHU Cochin, 24 Rue du Faubourg Saint Jacques, 75014 Paris,
      France.
FAU - Jun, L
AU  - Jun L
FAU - Bienvenu, T
AU  - Bienvenu T
FAU - Vinet, M C
AU  - Vinet MC
FAU - McDonell, N
AU  - McDonell N
FAU - Couvert, P
AU  - Couvert P
FAU - Zemni, R
AU  - Zemni R
FAU - Cardona, A
AU  - Cardona A
FAU - Van Buggenhout, G
AU  - Van Buggenhout G
FAU - Frints, S
AU  - Frints S
FAU - Hamel, B
AU  - Hamel B
FAU - Moraine, C
AU  - Moraine C
FAU - Ropers, H H
AU  - Ropers HH
FAU - Strom, T
AU  - Strom T
FAU - Howell, G R
AU  - Howell GR
FAU - Whittaker, A
AU  - Whittaker A
FAU - Ross, M T
AU  - Ross MT
FAU - Kahn, A
AU  - Kahn A
FAU - Fryns, J P
AU  - Fryns JP
FAU - Beldjord, C
AU  - Beldjord C
FAU - Marynen, P
AU  - Marynen P
FAU - Chelly, J
AU  - Chelly J
LA  - eng
SI  - GENBANK/AC005748
SI  - GENBANK/AJ243874
SI  - GENBANK/AL031575
GR  - Wellcome Trust/United Kingdom
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Nat Genet
JT  - Nature genetics
JID - 9216904
RN  - 0 (Receptors, Interleukin-1)
RN  - EC 3.6.1.- (GTP Phosphohydrolases)
SB  - IM
MH  - Amino Acid Sequence
MH  - Animals
MH  - Base Sequence
MH  - Female
MH  - GTP Phosphohydrolases/metabolism
MH  - Gene Deletion
MH  - *Genetic Linkage
MH  - Hippocampus/*metabolism
MH  - Humans
MH  - Intellectual Disability/*genetics
MH  - Male
MH  - Mice
MH  - Molecular Sequence Data
MH  - Olfactory Bulb/metabolism
MH  - Pedigree
MH  - Receptors, Interleukin-1/*genetics/*metabolism
MH  - Signal Transduction
MH  - Time Factors
MH  - Tissue Distribution
MH  - *X Chromosome
EDAT- 1999/09/02 09:00
MHDA- 2001/03/23 10:01
CRDT- 1999/09/02 09:00
PHST- 1999/09/02 09:00 [pubmed]
PHST- 2001/03/23 10:01 [medline]
PHST- 1999/09/02 09:00 [entrez]
AID - 10.1038/12623 [doi]
PST - ppublish
SO  - Nat Genet. 1999 Sep;23(1):25-31. doi: 10.1038/12623.