X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy

被引：1386

作者：

Wildin, RS ^{[1
]}

Ramsdell, F

Peake, J

Faravelli, F

Casanova, JL

Buist, N

Levy-Lahad, E

Mazzella, M

Goulet, O

Perroni, L

Bricarelli, FD

Byrne, G

McEuen, M

Proll, S

Appleby, M

Brunkow, ME

机构：

[1] Oregon Hlth Sci Univ, Dept Mol & Med Genet L103A, Portland, OR 97201 USA

[2] Celltech Chirosci Inc, Bothell, WA USA

[3] Royal Childrens Hosp, Dept Paediat, Brisbane, Qld, Australia

[4] Royal Childrens Hosp, Dept Child Hlth, Brisbane, Qld 4029, Australia

[5] Galliera Hosp, Lab Human Genet, Genoa, Italy

[6] Univ Paris, Hosp Necker Enfants Malad, Serv Immunol & Hematol Pediat, Lab Human Genet Infect Dis, F-75252 Paris, France

[7] Oregon Hlth Sci Univ, Dept Pediat, Portland, OR 97201 USA

[8] Shaare Zedek Med Ctr, Med Genet Unit, Jerusalem, Israel

[9] G Gaslini Inst, Dept Neonatol, Neonatol Intens Care Unit, Genoa, Italy

[10] Princess Margaret Hosp, Dept Endocrinol, Perth, WA, Australia

来源：

NATURE GENETICS | 2001年 / 27卷 / 01期

关键词：

D O I：

10.1038/83707

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：18 / 20

页数：3

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