A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation

Nat Genet. 1999 Sep;23(1):25-31. doi: 10.1038/12623.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Animals
  • Base Sequence
  • Female
  • GTP Phosphohydrolases / metabolism
  • Gene Deletion
  • Genetic Linkage*
  • Hippocampus / metabolism*
  • Humans
  • Intellectual Disability / genetics*
  • Male
  • Mice
  • Molecular Sequence Data
  • Olfactory Bulb / metabolism
  • Pedigree
  • Receptors, Interleukin-1 / genetics*
  • Receptors, Interleukin-1 / metabolism*
  • Signal Transduction
  • Time Factors
  • Tissue Distribution
  • X Chromosome*


  • Receptors, Interleukin-1
  • GTP Phosphohydrolases

Associated data

  • GENBANK/AC005748
  • GENBANK/AJ243874
  • GENBANK/AL031575