X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
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DOI：
10.1038/83707
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发表时间：
2001-01-01
期刊：
影响因子：
30.8
通讯作者：
Brunkow, ME
中科院分区：
文献类型：
--
作者：
Wildin, RS;Ramsdell, F;Brunkow, ME
为了确定人类X连锁新生儿糖尿病、肠病和内分泌病综合征（IPEX; MIM 304930）是否是皮屑病（SF）小鼠的遗传等价物，我们对IPEX患者皮屑病小鼠（Foxp 3）中突变基因的人类直系同源物（FOXP 3）进行了测序。我们发现了四个非多态性突变。每个突变都会影响scurfin蛋白的叉头/翼状螺旋结构域，这表明突变可能会破坏关键的DNA相互作用。
To determine whether human X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome (IPEX; MIM 304930) is the genetic equivalent of the scurfy (sf) mouse, we sequenced the human ortholog (FOXP3) of the gene mutated in scurfy mice (Foxp3), in IPEX patients. We found four non-polymorphic mutations. Each mutation affects the forkhead/winged-helix domain of the scurfin protein, indicating that the mutations may disrupt critical DNA interactions.