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

L Jun, T Bienvenu, M C Vinet, N McDonell, P Couvert, R Zemni, A Cardona, G Van Buggenhout, S Frints, B Hamel, C Moraine, H H Ropers, T Strom, G R Howell, A Whittaker, M T Ross, A Kahn, J P Fryns, C Beldjord, P Marynen, J Chelly

Affiliations

• PMID: 10471494
• DOI: 10.1038/12623

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

A Carrié et al. Nat Genet. 1999 Sep.

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.

PubMed Disclaimer

Similar articles

• Two novel members of the interleukin-1 receptor gene family, one deleted in Xp22.1-Xp21.3 mental retardation.
  Jin H, Gardner RJ, Viswesvaraiah R, Muntoni F, Roberts RG. Jin H, et al. Eur J Hum Genet. 2000 Feb;8(2):87-94. doi: 10.1038/sj.ejhg.5200415. Eur J Hum Genet. 2000. PMID: 10757639
• Oligophrenin-1 encodes a rhoGAP protein involved in X-linked mental retardation.
  Billuart P, Bienvenu T, Ronce N, des Portes V, Vinet MC, Zemni R, Roest Crollius H, Carrié A, Fauchereau F, Cherry M, Briault S, Hamel B, Fryns JP, Beldjord C, Kahn A, Moraine C, Chelly J. Billuart P, et al. Nature. 1998 Apr 30;392(6679):923-6. doi: 10.1038/31940. Nature. 1998. PMID: 9582072
• A new gene involved in X-linked mental retardation identified by analysis of an X;2 balanced translocation.
  Zemni R, Bienvenu T, Vinet MC, Sefiani A, Carrié A, Billuart P, McDonell N, Couvert P, Francis F, Chafey P, Fauchereau F, Friocourt G, des Portes V, Cardona A, Frints S, Meindl A, Brandau O, Ronce N, Moraine C, van Bokhoven H, Ropers HH, Sudbrak R, Kahn A, Fryns JP, Beldjord C, Chelly J. Zemni R, et al. Nat Genet. 2000 Feb;24(2):167-70. doi: 10.1038/72829. Nat Genet. 2000. PMID: 10655063
• The genetics of mental retardation.
  Raymond FL, Tarpey P. Raymond FL, et al. Hum Mol Genet. 2006 Oct 15;15 Spec No 2:R110-6. doi: 10.1093/hmg/ddl189. Hum Mol Genet. 2006. PMID: 16987873 Review.
• In search of the MRX genes.
  Toniolo D. Toniolo D. Am J Med Genet. 2000 Fall;97(3):221-7. doi: 10.1002/1096-8628(200023)97:3<221::AID-AJMG1040>3.0.CO;2-Q. Am J Med Genet. 2000. PMID: 11449491 Review.

Cited by

• Rare variation in non-coding regions with evolutionary signatures contributes to autism spectrum disorder risk.
  Shin T, Song JHT, Kosicki M, Kenny C, Beck SG, Kelley L, Antony I, Qian X, Bonacina J, Papandile F, Gonzalez D, Scotellaro J, Bushinsky EM, Andersen RE, Maury E, Pennacchio LA, Doan RN, Walsh CA. Shin T, et al. Cell Genom. 2024 Aug 14;4(8):100609. doi: 10.1016/j.xgen.2024.100609. Epub 2024 Jul 16. Cell Genom. 2024. PMID: 39019033 Free PMC article.
• Cause or consequence? The role of IL-1 family cytokines and receptors in neuroinflammatory and neurodegenerative diseases.
  Boraschi D, Italiani P, Migliorini P, Bossù P. Boraschi D, et al. Front Immunol. 2023 May 8;14:1128190. doi: 10.3389/fimmu.2023.1128190. eCollection 2023. Front Immunol. 2023. PMID: 37223102 Free PMC article.
• Clinical relevance and therapeutic potential of IL-38 in immune and non-immune-related disorders.
  Haghshenas MR, Zamir MR, Sadeghi M, Fattahi MJ, Mirshekari K, Ghaderi A. Haghshenas MR, et al. Eur Cytokine Netw. 2022 Sep 1;33(3):54-69. doi: 10.1684/ecn.2022.0480. Eur Cytokine Netw. 2022. PMID: 37052152 Free PMC article. Review.
• Large-Scale Functional Assessment of Genes Involved in Rare Diseases with Intellectual Disabilities Unravels Unique Developmental and Behaviour Profiles in Mouse Models.
  Meziane H, Birling MC, Wendling O, Leblanc S, Dubos A, Selloum M, Pavlovic G, Sorg T, Kalscheuer VM, Billuart P, Laumonnier F, Chelly J, van Bokhoven H, Herault Y. Meziane H, et al. Biomedicines. 2022 Dec 6;10(12):3148. doi: 10.3390/biomedicines10123148. Biomedicines. 2022. PMID: 36551904 Free PMC article.
• Nanomolar affinity of EF-hands in neuronal calcium sensor 1 for bivalent cations Pb2+, Mn2+, and Hg2.
  Alam MS, Azam S, Pham K, Leyva D, Fouque KJD, Fernandez-Lima F, Miksovska J. Alam MS, et al. Metallomics. 2022 Jul 8;14(7):mfac039. doi: 10.1093/mtomcs/mfac039. Metallomics. 2022. PMID: 35657675 Free PMC article.

Publication types

MeSH terms

Substances

LinkOut - more resources

• Full Text Sources

  • Nature Publishing Group

• Other Literature Sources

  • The Lens - Patent Citations

• Molecular Biology Databases

  • BioCyc
  • GlyGen glycoinformatics resource