A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation.
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.
Carrié
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INSERM Unité 129-ICGM, CHU Cochin, 24 Rue du Faubourg Saint Jacques, 75014 Paris, France.
Jun
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L
Bienvenu
T
T
Vinet
M C
MC
McDonell
N
N
Couvert
P
P
Zemni
R
R
Cardona
A
A
Van Buggenhout
G
G
Frints
S
S
Hamel
B
B
Moraine
C
C
Ropers
H H
HH
Strom
T
T
Howell
G R
GR
Whittaker
A
A
Ross
M T
MT
Kahn
A
A
Fryns
J P
JP
Beldjord
C
C
Marynen
P
P
Chelly
J
J
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
D017472:Receptors, Interleukin-1; D020558:GTP Phosphohydrolases