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自身免疫调节因子(AIRE)基因的小鼠同源物Aire的克隆,该基因与1型自身免疫性多腺体综合征(ASP1)相关。

Cloning of Aire, the mouse homologue of the autoimmune regulator (AIRE) gene responsible for autoimmune polyglandular syndrome type 1 (ASP1).

作者信息

Wang C Y, Shi J D, Davoodi-Semiromi A, She J X

机构信息

Department of Pathology, Immunology, and Laboratory Medicine and Center for Mammalian Genetics, College of Medicine, University of Florida, Gainesville 32610, USA.

出版信息

Genomics. 1999 Feb 1;55(3):322-6. doi: 10.1006/geno.1998.5656.

Abstract

The human autoimmune regulator gene (AIRE), responsible for autoimmune polyglandular syndrome Type 1 (APS1), has recently been identified by positional cloning. Here we report the cloning of Aire, the mouse homologue of AIRE, and the characterization of its genomic structure. The complete Aire gene is contained in 14 exons and encodes a protein of 552 amino acids. The coding region shares 77% nucleotide homology and 71% protein homology with human AIRE. As in its human homologue, Aire contains two PHD-type zinc-finger motifs, suggesting that the Aire protein may act as a transcription regulator.

摘要

负责自身免疫性多内分泌腺病1型(APS1)的人类自身免疫调节基因(AIRE),最近已通过定位克隆被鉴定出来。在此,我们报告AIRE的小鼠同源物Aire的克隆及其基因组结构的特征。完整的Aire基因包含在14个外显子中,编码一个由552个氨基酸组成的蛋白质。其编码区与人类AIRE的核苷酸同源性为77%,蛋白质同源性为71%。与人类同源物一样,Aire含有两个PHD型锌指基序,这表明Aire蛋白可能作为一种转录调节因子发挥作用。

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