IL1RAPL2 maps to Xq22 and is specifically expressed in the central nervous system

被引:25
作者
Ferrante, MI [1 ]
Ghiani, M [1 ]
Bulfone, A [1 ]
Franco, B [1 ]
机构
[1] Telethon Inst Genet & Med, I-80131 Naples, Italy
关键词
mental retardation; IL1RAPL; chromosome X; intrachromosomal duplication; brain development;
D O I
10.1016/S0378-1119(01)00659-X
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
We report the identification and characterization of a homologue of the IL1RAPL transcript which is responsible for a form of X-link-ed mental retardation (MRX34). This new transcript was cloned by analysis of genomic sequences from the Xq22 region and was named IL1RAPL2 (Interleukin I Receptor Accessory Protein-Like-2). The two X-linked genes share the same domains, the same exon-intron organization and a high degree of similarity at the protein level (70.4% similarity). RNA in situ expression studies on mouse embryo tissue section at different developmental stages show that Il1rapl2 is specifically expressed in the nervous system from embryonic day 12.5. The homologies to-ether with the pattern of expression render ILRAPL2 a candidate gene for disorders displaying involvement of the CNS, including the MRX loci for which the gene has not been identified yet. (C) 2001 Elsevier Science B.V. All rights reserved.
引用
收藏
页码:217 / 221
页数:5
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