期刊
IMMUNOGENETICS
卷 53, 期 6, 页码 435-439出版社
SPRINGER
DOI: 10.1007/s002510100358
关键词
IPEX; polyadenylation; T-cell activation; FOXP3
The mouse scurfy gene, Foxp3, and its human orthologue, FOXP3, which maps to Xp11.23-Xq13.3, were recently identified by positional cloning. Point mutations and microdeletions of the FOXP3 gene were found in the affected members of eight of nine families with IPEX (immune dysfunction, polyendocrinopathy, enteropathy, X-linked; OMIM 304930). We evaluated a pedigree with clinically typical IPEX in which mutations of the coding, exons of FOXP3 were not detected. Our reevaluation of this pedigree identified an A -->G transition within the first polyadenylation signal (AAUAAA --> AAU (G) under bar AA) after the stop codon. The next polyadenylation signal is not encountered for a further 5.1 kb. This transition was not detected in over 212 normal individuals (similar to 318 X chromosomes), excluding the possibility of a rare polymorphism. We suggest that this mutation is causal of IPEX in this family by a mechanism of nonspecific degradation of the FOXP3 gene message.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据