Wildin R S, Ramsdell F, Peake J, Faravelli F, Casanova J L, Buist N, Levy-Lahad E, Mazzella M, Goulet O, Perroni L, Bricarelli F D, Byrne G, McEuen M, Proll S, Appleby M, Brunkow M E
Department of Molecular and Medical Genetics, Oregon Health Sciences University, Portland, USA.
Nat Genet. 2001 Jan;27(1):18-20. doi: 10.1038/83707.
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.
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）是否等同于小鼠的鳞屑（sf）病，我们对IPEX患者中与小鼠鳞屑病（Foxp3）中突变基因的人类直系同源基因（FOXP3）进行了测序。我们发现了四个非多态性突变。每个突变都影响鳞屑蛋白的叉头/翼状螺旋结构域，表明这些突变可能会破坏关键的DNA相互作用。
