A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation.
Nat Genet
; 23(1): 25-31, 1999 Sep.
Article
em En
| MEDLINE
| ID: mdl-10471494
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Cromossomo X
/
Receptores de Interleucina-1
/
Hipocampo
/
Ligação Genética
/
Deficiência Intelectual
Tipo de estudo:
Prognostic_studies
Limite:
Animals
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
Nat Genet
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
1999
Tipo de documento:
Article
País de afiliação:
França