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

被引：245

作者：

Carrié, A

Jun, L

Bienvenu, T

Vinet, MC

McDonell, N

Couvert, P

Zemni, R

Cardona, A

Van Buggenhout, G

Frints, S

Hamel, B

Moraine, C

Ropers, HH

Strom, T

Howell, GR

Whittaker, A

Ross, MT

Kahn, A

Fryns, JP

Beldjord, C

Marynen, P

Chelly, J

机构：

[1] CHU Cochin, INSERM, U129, IGGM, F-75014 Paris, France

[2] Univ Hosp Gasthuisberg VIB, B-3000 Louvain, Belgium

[3] Inst Pasteur, Lab Technol Cellulaires, F-75724 Paris 15, France

[4] Clin Genet Univ, Ctr Human Genet, UZ Gasthuisberg, B-3000 Louvain, Belgium

[5] Univ Nijmegen Hosp, Dept Human Genet 417, NL-6500 HB Nijmegen, Netherlands

[6] Ctr Hosp Tours, Serv Genet, Hop Bretonneau, F-37044 Tours, France

[7] Max Planck Inst Mol Genet, Berlin, Germany

[8] Abt Med Genet, D-80336 Munich, Germany

[9] Sanger Ctr, Cambridge, England

来源：

NATURE GENETICS | 1999年 / 23卷 / 01期

基金：

英国惠康基金;

关键词：

D O I：

10.1038/12623

中图分类号：

Q3 [遗传学];

学科分类号：

071007 [遗传学]; 090102 [作物遗传育种];

摘要：

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-l 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.

引用

页码：25 / 31

页数：7

共 43 条

[1]

PAK3 mutation in nonsyndromic X-linked mental retardation [J].